Term IRI Term label Parent term IRI Parent term label Alternative term Definition http://purl.obolibrary.org/obo/DOID_9913 obsolete axillary metastasis http://purl.obolibrary.org/obo/DOID_0112238 X-linked lissencephaly 2 http://purl.obolibrary.org/obo/DOID_0050735 X-linked monogenic disease A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. http://purl.obolibrary.org/obo/UBERON_0002165 endocardium http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/DOID_0050247 obsolete parasitic stramenopiles infectious disease A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms. http://purl.obolibrary.org/obo/DOID_9915 obsolete malignant neoplasm of ribs, sternum and clavicle http://purl.obolibrary.org/obo/RO_0002202 develops from http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/UBERON_0002470 autopod region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/DOID_0112239 X-linked lissencephaly 1 http://purl.obolibrary.org/obo/DOID_0050735 X-linked monogenic disease A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. http://purl.obolibrary.org/obo/DOID_0050249 obsolete Brugia timori filariasis A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema. http://purl.obolibrary.org/obo/DOID_9916 obsolete secondary malignant neoplasm to the chest wall http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/DOID_0112240 Leber congenital amaurosis with early-onset deafness http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_0050252 obsolete Dipylidium caninum infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness. http://purl.obolibrary.org/obo/DOID_9919 obsolete malignant neoplasm of thoracic esophagus http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to http://purl.obolibrary.org/obo/UBERON_0008785 upper limb segment http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/DOID_0112241 multiple benign circumferential skin creases on limbs http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. http://purl.obolibrary.org/obo/DOID_0050255 obsolete Uncinaria stenocephala infectious disease A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections. http://purl.obolibrary.org/obo/DOID_9925 obsolete hyperostosis frontalis interna http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 has characteristic http://purl.obolibrary.org/obo/UBERON_0001044 saliva-secreting gland http://purl.obolibrary.org/obo/UBERON_0010047 oral gland http://purl.obolibrary.org/obo/DOID_0050257 obsolete Angiostrongylus cantonensis infectious disease An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur. http://purl.obolibrary.org/obo/DOID_0112242 congenital symmetric circumferential skin creases 1 http://purl.obolibrary.org/obo/DOID_0112241 multiple benign circumferential skin creases on limbs A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_9929 obsolete meningococcal meningitis http://purl.obolibrary.org/obo/RO_0007001 has disease driver http://purl.obolibrary.org/obo/RO_0007000 has driver http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0050258 obsolete Angiostrongylus costaricensis infectious disease An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity. http://purl.obolibrary.org/obo/DOID_0112243 congenital symmetric circumferential skin creases 2 http://purl.obolibrary.org/obo/DOID_0112241 multiple benign circumferential skin creases on limbs A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. http://purl.obolibrary.org/obo/DOID_9930 obsolete primary Neisseriaceae infectious disease http://purl.obolibrary.org/obo/RO_0002452 has symptom http://purl.obolibrary.org/obo/RO_0002200 has phenotype http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0050262 obsolete Acoelomata infectious disease A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity. http://purl.obolibrary.org/obo/DOID_0112244 alopecia, neurologic defects, and endocrinopathy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. http://purl.obolibrary.org/obo/DOID_9940 obsolete Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/RO_0002241 has exposure stressor http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/UBERON_0002419 skin gland http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/DOID_0050263 obsolete Pseudocoelomata infectious disease A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals. http://purl.obolibrary.org/obo/DOID_0112246 glutaric acidemia type 3 http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1. http://purl.obolibrary.org/obo/DOID_9943 obsolete syphilitic episcleritis http://purl.obolibrary.org/obo/RO_0002200 has phenotype http://purl.obolibrary.org/obo/RO_0016001 has phenotype or disease http://purl.obolibrary.org/obo/RO_0001020 is allergic trigger for http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0050264 obsolete Acanthocephala infectious disease A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host. http://purl.obolibrary.org/obo/DOID_0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency http://purl.obolibrary.org/obo/DOID_3765 pseudohermaphroditism A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_9989 obsolete metastasis to the orbit http://purl.obolibrary.org/obo/RO_0001021 is autoimmune trigger for http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0050271 obsolete cutaneous ascomycota mycosis A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members. http://purl.obolibrary.org/obo/DOID_0112249 GAPO syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. http://purl.obolibrary.org/obo/DOID_0050272 obsolete cutaneous basidiomycota mycosis A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members. http://purl.obolibrary.org/obo/DOID_9995 obsolete endocrine and metabolic disturbances specific to the fetus and newborn http://purl.obolibrary.org/obo/RO_0003304 contributes to condition http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0112250 Gaucher's disease type IIIC http://purl.obolibrary.org/obo/DOID_0110959 Gaucher's disease type III A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0050273 obsolete Neoscytalidium dimidiatum infectious disease A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/DOID_0050001 obsolete Actinomadura madurae infectious disease http://purl.obolibrary.org/obo/RO_0003303 causes condition http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0112251 Ghosal hematodiaphyseal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0050274 obsolete Scopulariopsis infectious disease An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals. http://purl.obolibrary.org/obo/DOID_0050002 obsolete Actinomadura pelletieri infectious disease http://purl.obolibrary.org/obo/RO_0001022 has allergic trigger http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/UBERON_0004859 eye gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0112252 congenital nonspherocytic hemolytic anemia 6 http://purl.obolibrary.org/obo/DOID_0080699 glutathione synthetase deficiency A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. http://purl.obolibrary.org/obo/DOID_0050275 obsolete onychomycosis A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed. http://purl.obolibrary.org/obo/DOID_0050003 obsolete Streptomyces somaliensis infectious disease http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0112253 combined cellular and humoral immune defects with granulomas http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. http://purl.obolibrary.org/obo/DOID_0050276 obsolete subcutaneous ascomycota mycosis A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members. http://purl.obolibrary.org/obo/DOID_0050024 obsolete Ehrlichia ewingii ehrlichiosis http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/UBERON_0006868 seminal fluid secreting gland http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/DOID_0112255 homocystinuria-megaloblastic anemia cblE type http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. http://purl.obolibrary.org/obo/DOID_0050277 obsolete subcutaneous fungi incertae sedis mycosis A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members. http://purl.obolibrary.org/obo/DOID_0050053 obsolete Rickettsia honei spotted fever http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/UBERON_0015152 gland of ocular region http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0112256 homocystinuria-megaloblastic anemia cblG type http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. http://purl.obolibrary.org/obo/DOID_0050280 obsolete superficial ascomycota mycosis A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members. http://purl.obolibrary.org/obo/DOID_0050063 obsolete abortive plague http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/UBERON_0002389 finger http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/DOID_0112257 hydroxykynureninuria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. http://purl.obolibrary.org/obo/DOID_0050281 obsolete superficial basidiomycota mycosis A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members. http://purl.obolibrary.org/obo/DOID_0050065 obsolete cutaneous listeriosis http://purl.obolibrary.org/obo/RO_0002220 adjacent to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/UBERON_0001466 toe http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/DOID_0112258 N-acetylglutamate synthase deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_0050282 obsolete primary systemic ascomycota mycosis A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members. http://purl.obolibrary.org/obo/DOID_0050066 obsolete Listeria meningoencephalitis http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to http://purl.obolibrary.org/obo/UBERON_0006048 digit 1 http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/DOID_0112259 Leydig cell hypoplasia http://purl.obolibrary.org/obo/DOID_3765 pseudohermaphroditism A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/DOID_0050283 obsolete Stachybotrys infectious disease A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants. http://purl.obolibrary.org/obo/DOID_0050067 obsolete Listeria septicaemia http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/DOID_0112260 Leydig cell hypoplasia type I http://purl.obolibrary.org/obo/DOID_0112259 Leydig cell hypoplasia A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/DOID_0050284 obsolete opportunistic ascomycota mycosis An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota. http://purl.obolibrary.org/obo/DOID_0050069 obsolete Yersinia pestis infectious disease http://purl.obolibrary.org/obo/RO_0004005 has major susceptibility factor http://purl.obolibrary.org/obo/RO_0004000 condition has genetic basis in http://purl.obolibrary.org/obo/UBERON_0001707 nasal cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0112261 Leydig cell hypoplasia type II http://purl.obolibrary.org/obo/DOID_0112259 Leydig cell hypoplasia A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/DOID_0050285 obsolete opportunistic basidiomycota mycosis An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members. http://purl.obolibrary.org/obo/DOID_0050070 obsolete plague meningitis http://purl.obolibrary.org/obo/RO_0004000 condition has genetic basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0112262 leucine-sensitive hypoglycemia of infancy http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1. http://purl.obolibrary.org/obo/DOID_0050286 obsolete opportunistic fungi incertae sedis mycosis An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members. http://purl.obolibrary.org/obo/DOID_0112263 hypoinsulinemic hypoglycemia with hemihypertrophy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_0050078 obsolete cervix tuberculosis http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/UBERON_0003728 mediastinum http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0050287 obsolete opportunistic microsporidia mycosis An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members. http://purl.obolibrary.org/obo/DOID_0112264 Woodhouse-Sakati syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/DOID_0050079 obsolete niacin deficiency http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/UBERON_0001179 peritoneal cavity http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/DOID_0050293 obsolete Scopulariopsis brevicaulis infectious disease An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. http://purl.obolibrary.org/obo/DOID_0112265 iminoglycinuria http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_0050080 obsolete iodine deficiency http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/UBERON_0002402 pleural cavity http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/DOID_0050294 obsolete Scytalidium hyalinum infectious disease A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface. http://purl.obolibrary.org/obo/DOID_0112266 nephrotic syndrome type 23 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. http://purl.obolibrary.org/obo/DOID_0050123 obsolete tuberculous encephalitis http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/UBERON_0004704 bone fossa http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0050295 obsolete cutaneous sporotrichosis A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain. http://purl.obolibrary.org/obo/DOID_0112267 nephrotic syndrome type 21 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. http://purl.obolibrary.org/obo/DOID_0050162 obsolete influenza encephalopathy http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/UBERON_0004867 orbital cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0050296 obsolete Asfarviridae infectious disease A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite. http://purl.obolibrary.org/obo/DOID_0112268 nephrotic syndrome type 22 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. http://purl.obolibrary.org/obo/DOID_0050163 obsolete influenza myocarditis http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/UBERON_0013411 cranial cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0050298 obsolete adenovirus infectious disease A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses. http://purl.obolibrary.org/obo/DOID_0112269 primary ovarian insufficiency 18 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. http://purl.obolibrary.org/obo/DOID_0050164 obsolete influenza myositis http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0050299 obsolete Simplexvirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus. http://purl.obolibrary.org/obo/DOID_0112270 spermatogenic failure 52 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. http://purl.obolibrary.org/obo/DOID_0050300 obsolete Deltavirus infectious disease A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus. http://purl.obolibrary.org/obo/DOID_0050265 obsolete tick paralysis http://purl.obolibrary.org/obo/RO_0007000 has driver A relation between two entities, in which one of the entities is any natural or human-influenced factor that directly or indirectly causes a change in the other entity. http://purl.obolibrary.org/obo/UBERON_0035014 functional part of brain http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_0112271 spermatogenic failure 49 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. http://purl.obolibrary.org/obo/DOID_0050301 obsolete Polyomaviridae infectious disease A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses. http://purl.obolibrary.org/obo/DOID_0050267 obsolete Ancylostoma caninum ancylostomiasis http://purl.obolibrary.org/obo/IDO_0000664 has material basis in Relating the disease to it’s causation (disease and disorder). http://purl.obolibrary.org/obo/UBERON_0001898 hypothalamus http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_0112272 spermatogenic failure 50 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1. http://purl.obolibrary.org/obo/DOID_0050302 obsolete Varicellovirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus. http://purl.obolibrary.org/obo/DOID_0050297 obsolete primary Francisellaceae infectious disease http://purl.obolibrary.org/obo/RO#_is_a is_a Relation defining child to partent inheritance type. http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_0112273 spermatogenic failure 51 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33. http://purl.obolibrary.org/obo/DOID_0050303 obsolete Hepacivirus infectious disease A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion. http://purl.obolibrary.org/obo/DOID_0050306 obsolete familial abdominal aortic aneurysm http://purl.obolibrary.org/obo/RO_0002324 developmentally related to http://purl.obolibrary.org/obo/UBERON_0002099 cardiac septum http://purl.obolibrary.org/obo/UBERON_0003037 septum http://purl.obolibrary.org/obo/DOID_0112274 X-linked spermatogenic failure 3 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. http://purl.obolibrary.org/obo/DOID_0050305 obsolete Arteriviridae infectious disease A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses. http://purl.obolibrary.org/obo/DOID_0050310 obsolete primary Listeriaceae infectious disease http://purl.obolibrary.org/obo/RO_0000053 has characteristic http://purl.obolibrary.org/obo/UBERON_0001833 lip http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/DOID_0112275 developmental and epileptic encephalopathy 93 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. http://purl.obolibrary.org/obo/DOID_0050307 obsolete Bornaviridae infectious disease A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses. http://purl.obolibrary.org/obo/DOID_0050311 obsolete primary Helicobacteraceae infectious disease http://purl.obolibrary.org/obo/RO_0001000 derives from http://purl.obolibrary.org/obo/RO_0003000 produces http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/DOID_0112276 neurodevelopmental disorder with involuntary movements http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13. http://purl.obolibrary.org/obo/DOID_0050309 obsolete Measles virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person. http://purl.obolibrary.org/obo/DOID_0112277 immunodeficiency 79 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0050312 obsolete primary Campylobacteraceae infectious disease http://purl.obolibrary.org/obo/RO_0003001 produced by http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0050324 obsolete physical disorder OBSOLETED TERM A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM). http://purl.obolibrary.org/obo/DOID_0112278 primary ovarian insufficiency 19 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0050313 obsolete primary Brucellaceae infectious disease http://purl.obolibrary.org/obo/RO_0016001 has phenotype or disease http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/DOID_0112279 spermatogenic failure 53 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_0050325 obsolete genetic disorder A medical disorder that is an illness caused by abnormalities in genes or chromosomes. http://purl.obolibrary.org/obo/DOID_0050314 obsolete primary Erysipelotrichaceae infectious disease http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/UBERON_0002299 alveolus of lung http://purl.obolibrary.org/obo/UBERON_0003215 alveolus http://purl.obolibrary.org/obo/DOID_0112282 spondyloepiphyseal dysplasia Kimberley type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_0050329 obsolete mental disorder A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture. http://purl.obolibrary.org/obo/DOID_0050315 obsolete commensal Clostridiaceae infectious disease http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/so#has_origin has_origin http://purl.obolibrary.org/obo/UBERON_0002351 sinoatrial node http://purl.obolibrary.org/obo/UBERON_0010131 conducting tissue of heart http://purl.obolibrary.org/obo/DOID_0050342 obsolete commensal Actinomycetales infectious disease A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora. http://purl.obolibrary.org/obo/DOID_0112283 spondyloepiphyseal dysplasia Kondo-Fu type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. http://purl.obolibrary.org/obo/DOID_0050494 obsolete Papillomaviridae infectious disease A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses. http://purl.obolibrary.org/obo/DOID_0050316 obsolete commensal Staphylococcaceae infectious disease http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/UBERON_0001739 laryngeal cartilage http://purl.obolibrary.org/obo/UBERON_0011004 pharyngeal arch cartilage http://purl.obolibrary.org/obo/DOID_0050496 obsolete Banna virus encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache. http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth. http://purl.obolibrary.org/obo/DOID_0050317 obsolete commensal Streptococcaceae infectious disease http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to http://purl.obolibrary.org/obo/UBERON_0001323 tibial nerve http://purl.obolibrary.org/obo/UBERON_0003431 leg nerve http://purl.obolibrary.org/obo/DOID_0112285 autosomal dominant spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0050497 obsolete Anelloviridae infectious disease A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses. http://purl.obolibrary.org/obo/DOID_0050498 obsolete dsDNA virus infectious disease A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA. http://purl.obolibrary.org/obo/DOID_0050318 obsolete primary Burkholderiaceae infectious disease http://purl.obolibrary.org/obo/DOID_0050319 obsolete primary Legionellaceae infectious disease http://purl.obolibrary.org/obo/RO_0002321 ecologically related to http://purl.obolibrary.org/obo/UBERON_0001423 radius bone http://purl.obolibrary.org/obo/UBERON_0015001 radius endochondral element http://purl.obolibrary.org/obo/UBERON_0004087 vena cava http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/DOID_0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma. http://purl.obolibrary.org/obo/DOID_0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. http://purl.obolibrary.org/obo/DOID_0050499 obsolete ssDNA virus infectious disease A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA. http://purl.obolibrary.org/obo/DOID_0050320 obsolete commensal Alcaligenaceae infectious disease http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/UBERON_0001673 central retinal vein http://purl.obolibrary.org/obo/UBERON_0009141 craniocervical region vein http://purl.obolibrary.org/obo/DOID_0112288 spondyloepiphyseal dysplasia Nishimura type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0050500 obsolete dsDNA-RT virus infectious disease A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase. http://purl.obolibrary.org/obo/DOID_0050321 obsolete opportunistic Pseudomonadaceae infectious disease http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/DOID_0050501 obsolete dsRNA virus infectious disease A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes. http://purl.obolibrary.org/obo/DOID_0112289 spondyloepiphyseal dysplasia tarda with characteristic facies http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. http://purl.obolibrary.org/obo/DOID_0050322 obsolete primary Vibrionaceae infectious disease http://purl.obolibrary.org/obo/UBERON_0003221 phalanx http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/DOID_0050502 obsolete (+)ssRNA virus infectious disease A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes. http://purl.obolibrary.org/obo/DOID_0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. http://purl.obolibrary.org/obo/DOID_0050323 obsolete primary Coxiellaceae infectious disease http://purl.obolibrary.org/obo/UBERON_0000981 femur http://purl.obolibrary.org/obo/UBERON_0015052 femur endochondral element http://purl.obolibrary.org/obo/DOID_0050503 obsolete (-)ssRNA virus infectious disease A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes. http://purl.obolibrary.org/obo/DOID_0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. http://purl.obolibrary.org/obo/DOID_0112292 spondyloepiphyseal dysplasia tarda with impaired intellectual development http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. http://purl.obolibrary.org/obo/DOID_0112293 autosomal recessive spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. http://purl.obolibrary.org/obo/DOID_0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. http://purl.obolibrary.org/obo/DOID_0050327 obsolete peripheral dysostosis http://purl.obolibrary.org/obo/UBERON_0003663 hindlimb muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0050504 obsolete ssRNA-RT virus infectious disease A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase. http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. http://purl.obolibrary.org/obo/DOID_0050333 obsolete congenital anosmia http://purl.obolibrary.org/obo/DOID_0050334 obsolete thiourea tasting http://purl.obolibrary.org/obo/DOID_0050505 obsolete human papilloma virus related anal squamous cell carcinoma A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus. http://purl.obolibrary.org/obo/UBERON_0001383 muscle of leg http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0112296 spondylometaphyseal dysplasia Algerian type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0050337 obsolete Burkholderia cepacia infectious disease http://purl.obolibrary.org/obo/DOID_0112297 spondylometaphyseal dysplasia corner fracture type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. http://purl.obolibrary.org/obo/UBERON_0002491 lambdoid suture http://purl.obolibrary.org/obo/UBERON_0003685 cranial suture http://purl.obolibrary.org/obo/DOID_0050506 obsolete human papilloma virus related vaginal squamous cell carcinoma A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina. http://purl.obolibrary.org/obo/DOID_0050341 obsolete opportunistic Actinomycetales infectious disease http://purl.obolibrary.org/obo/DOID_0112298 spondylometaphyseal dysplasia Sedaghatian type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/UBERON_0001103 diaphragm http://purl.obolibrary.org/obo/UBERON_0003831 respiratory system muscle http://purl.obolibrary.org/obo/DOID_0050511 obsolete Human torovirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea. http://purl.obolibrary.org/obo/DOID_0050343 obsolete Gardnerella vaginalis vaginosis http://purl.obolibrary.org/obo/DOID_0112299 axial spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/UBERON_0001091 calcareous tooth http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_0050512 obsolete Saffold virus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting. http://purl.obolibrary.org/obo/DOID_0050344 obsolete commensal Bifidobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112300 spondylometaphyseal dysplasia with cone-rod dystrophy http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/DOID_0050519 obsolete Lymphocytic choriomeningitis virus meningitis A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck. http://purl.obolibrary.org/obo/DOID_0050345 obsolete primary Thermomonosporaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112301 spondylometaphyseal dysplasia type A4 http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. http://purl.obolibrary.org/obo/UBERON_0007502 epithelial plexus http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/DOID_0050520 obsolete Lymphocytic choriomeningitis virus meningoencephalitis A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. http://purl.obolibrary.org/obo/DOID_0050346 obsolete primary Corynebacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112302 spondylometaphyseal dysplasia East African type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies. http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/DOID_0050536 obsolete SC phocomelia syndrome A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene. http://purl.obolibrary.org/obo/DOID_0050347 obsolete primary Mycobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112303 spondylometaphyseal dysplasia with corneal dystrophy http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/UBERON_0006615 venous sinus http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/DOID_0050549 obsolete Saldino-Noonan syndrome A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase. http://purl.obolibrary.org/obo/DOID_0050348 obsolete primary Streptomycetaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/UBERON_0011004 pharyngeal arch cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_0050556 obsolete infantile onset spinocerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment, has_material_basis_in mutation in the TWNK gene that affects mitochondrial function. http://purl.obolibrary.org/obo/DOID_0050349 obsolete opportunistic Nocardiaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/DOID_0050747 obsolete lymphoplasmacytic lymphoma A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. http://purl.obolibrary.org/obo/DOID_0050350 obsolete primary Clostridiaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112306 Mahvash Disease http://purl.obolibrary.org/obo/DOID_1428 endocrine pancreas disease An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/DOID_0050780 obsolete Opitz-GBBB syndrome A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects. http://purl.obolibrary.org/obo/DOID_0050351 obsolete primary Clostridium infectious disease http://purl.obolibrary.org/obo/DOID_0112307 sarcosinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2. http://purl.obolibrary.org/obo/UBERON_0005208 right atrium valve http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/DOID_0050786 obsolete iridogoniodysgenesis syndrome An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. http://purl.obolibrary.org/obo/DOID_0050355 obsolete opportunistic Burkholderiaceae infectious disease http://purl.obolibrary.org/obo/DOID_0080995 tuberculous encephalopathy http://purl.obolibrary.org/obo/DOID_399 tuberculosis A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state. http://purl.obolibrary.org/obo/UBERON_0004014 labium minora http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/DOID_0050815 obsolete eye adnexa disease An eye and adnexa disease that is located_in the adnexa of the eye. http://purl.obolibrary.org/obo/DOID_0050357 obsolete Burkholderia cenocepacia infectious disease http://purl.obolibrary.org/obo/DOID_0080996 diffuse large B-cell lymphoma activated B-cell type http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. http://purl.obolibrary.org/obo/UBERON_0004085 labium majora http://purl.obolibrary.org/obo/UBERON_0004084 genital labium http://purl.obolibrary.org/obo/DOID_0050819 obsolete Matthew-Wood syndrome A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. http://purl.obolibrary.org/obo/DOID_0050358 obsolete commensal Chlamydiaceae infectious disease http://purl.obolibrary.org/obo/DOID_0080997 diffuse large B-cell lymphoma germinal center B-cell type http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. http://purl.obolibrary.org/obo/UBERON_0000159 anal canal http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0050867 obsolete Jensen syndrome A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. http://purl.obolibrary.org/obo/DOID_0050359 obsolete Bilophila wadsworthia necrotizing fasciitis http://purl.obolibrary.org/obo/DOID_0080998 acute necrotizing pancreatitis http://purl.obolibrary.org/obo/DOID_2913 acute pancreatitis An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. http://purl.obolibrary.org/obo/UBERON_0003959 rete testis http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0050966 obsolete spinocerebellar ataxia type 16 An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia, dysarthria, nystagmus, peripheral neuropathy and limb spasticity, has_material_basis_in mutation in the STUB1 gene. http://purl.obolibrary.org/obo/DOID_0050360 obsolete commensal Enterobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0080999 acute hemorrhagic pancreatitis http://purl.obolibrary.org/obo/DOID_2913 acute pancreatitis An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0060006 obsolete artemis deficiency A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA. http://purl.obolibrary.org/obo/DOID_0050361 obsolete opportunistic Enterobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0081000 Cowden syndrome 4 http://purl.obolibrary.org/obo/DOID_6457 Cowden syndrome A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0060015 obsolete interleukin-7 receptor alpha deficiency A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. http://purl.obolibrary.org/obo/DOID_0050362 obsolete Elizabethkingia meningoseptica infectious disease http://purl.obolibrary.org/obo/DOID_0081003 Cowden syndrome 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0060035 obsolete medical disorder A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. http://purl.obolibrary.org/obo/DOID_0050363 obsolete Capnocytophaga canimorsus infectious disease http://purl.obolibrary.org/obo/DOID_0081005 parsley allergy http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy A vegetable allergy triggered by parsley (Petroselinum). http://purl.obolibrary.org/obo/UBERON_0001352 external acoustic meatus http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0060052 obsolete neurological disorder A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. http://purl.obolibrary.org/obo/DOID_0050364 obsolete opportunistic Flavobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0081006 dill allergy http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy A food allergy triggered by dill (Anethum graveolens). http://purl.obolibrary.org/obo/UBERON_0005744 bone foramen http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0060053 obsolete peripheral neuropathy A neuropathy that is located_in nerves of the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_0050365 obsolete Chryseobacterium indologenes infectious disease http://purl.obolibrary.org/obo/DOID_0081007 RNASET2-deficient cystic leukoencephalopathy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. http://purl.obolibrary.org/obo/UBERON_0011859 internal acoustic meatus http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0060064 obsolete sideroblastic anemia with spinocerebellar ataxia A sideoblastic anemia that is characterized by microcytic hypochromic anemia and ealy-onset, slowly progressive spinocerebellar ataxia, and has_material_basis_in X-linked inheritance of mutation in the ABCB7 gene that encodes a transporter protein that plays a role in heme production in the bone marrow and cerebellum. http://purl.obolibrary.org/obo/DOID_0050366 obsolete Empedobacter brevis endophthalmitis http://purl.obolibrary.org/obo/DOID_0081008 Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. http://purl.obolibrary.org/obo/UBERON_0002367 prostate gland http://purl.obolibrary.org/obo/UBERON_0010147 male accessory sex gland http://purl.obolibrary.org/obo/DOID_0060101 obsolete benign glioma A cell type benign neoplasm that has_material_basis_in glial cells. http://purl.obolibrary.org/obo/DOID_0050367 obsolete Myroides odoratus necrotizing fasciitis http://purl.obolibrary.org/obo/DOID_0081010 Bardet-Biedl syndrome 21 http://purl.obolibrary.org/obo/DOID_1935 Bardet-Biedl syndrome A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_0081011 Bardet-Biedl syndrome 22 http://purl.obolibrary.org/obo/DOID_1935 Bardet-Biedl syndrome A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. http://purl.obolibrary.org/obo/UBERON_0000056 ureter http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_0060208 obsolete amyotrophic lateral sclerosis type 17 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3. http://purl.obolibrary.org/obo/DOID_0050368 obsolete commensal Fusobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0081012 critical COVID-19 http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. http://purl.obolibrary.org/obo/UBERON_0000948 heart http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_0060561 obsolete DMD-related dilated cardiomyopathy A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene. http://purl.obolibrary.org/obo/DOID_0050369 obsolete primary Mycoplasmataceae infectious disease http://purl.obolibrary.org/obo/DOID_0081013 severe COVID-19 http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. http://purl.obolibrary.org/obo/UBERON_0000989 penis http://purl.obolibrary.org/obo/UBERON_0008811 intromittent organ http://purl.obolibrary.org/obo/DOID_0060605 obsolete anterior segment mesenchymal dysgenesis An eye disease that is characterized by impaired development of the anterior segment of the eye. http://purl.obolibrary.org/obo/DOID_0050370 obsolete commensal Neisseriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0081014 non-severe COVID-19 http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. http://purl.obolibrary.org/obo/UBERON_0000996 vagina http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/DOID_0060771 obsolete dextro-looped transposition of the great arteries 1 A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0050371 obsolete commensal Pasteurellaceae infectious disease http://purl.obolibrary.org/obo/DOID_0050372 obsolete commensal Haemophilus infectious disease http://purl.obolibrary.org/obo/DOID_0081015 congenital fibrosis of the extraocular muscles 1 http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. http://purl.obolibrary.org/obo/DOID_0081016 congenital fibrosis of the extraocular muscles 2 http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. http://purl.obolibrary.org/obo/UBERON_0000998 seminal vesicle http://purl.obolibrary.org/obo/UBERON_0006868 seminal fluid secreting gland http://purl.obolibrary.org/obo/DOID_0060829 obsolete Brooks-Wisniewski-Brown syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome. http://purl.obolibrary.org/obo/DOID_0050373 obsolete Leptospiraceae infectious disease http://purl.obolibrary.org/obo/DOID_0081017 congenital fibrosis of the extraocular muscles 3A http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. http://purl.obolibrary.org/obo/UBERON_0003889 fallopian tube http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_0070001 obsolete neoplastic disease A disease of cellular proliferation that results in an abnormal mass of tissue. http://purl.obolibrary.org/obo/DOID_0050374 obsolete Spirochaetaceae infectious disease http://purl.obolibrary.org/obo/DOID_0081019 congenital fibrosis of the extraocular muscles 3C http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). http://purl.obolibrary.org/obo/UBERON_0006589 round ligament of uterus http://purl.obolibrary.org/obo/UBERON_0008845 nonskeletal ligament http://purl.obolibrary.org/obo/DOID_0080034 obsolete endosteal hyperostosis A hyperostosis of endosteal bone. http://purl.obolibrary.org/obo/DOID_0050375 obsolete primary Spirillaceae infectious disease http://purl.obolibrary.org/obo/DOID_0081020 congenital fibrosis of the extraocular muscles 5 http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. http://purl.obolibrary.org/obo/UBERON_0001533 subclavian artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/DOID_0080091 obsolete spheroid body myopathy A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0050376 obsolete anaplasmosis http://purl.obolibrary.org/obo/DOID_0081021 Tukel syndrome http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/DOID_0080100 obsolete Batten Turner congenital myopathy A myopathy that is characterized by the lack of muscle tone or floppiness at birth. http://purl.obolibrary.org/obo/DOID_0050377 obsolete Burkholderia cepacia complex infectious disease http://purl.obolibrary.org/obo/DOID_0081022 cone dystrophy with supernormal rod responses http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. http://purl.obolibrary.org/obo/UBERON_0000966 retina http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/DOID_0110051 obsolete Alzheimer's disease 19 An Alzheimer's disease that is characterized by associated variants of the gene PLD3. http://purl.obolibrary.org/obo/DOID_0050378 obsolete opportunistic Campylobacteraceae infectious disease http://purl.obolibrary.org/obo/DOID_0081023 retinal cone dystrophy 4 http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. http://purl.obolibrary.org/obo/UBERON_0001017 central nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_0110071 obsolete arrhythmogenic right ventricular dysplasia 2 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43. http://purl.obolibrary.org/obo/DOID_0050379 obsolete Campylobacter fetus infectious disease http://purl.obolibrary.org/obo/DOID_0081024 retinal cone dystrophy 1 http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/DOID_0110578 obsolete autosomal dominant nonsyndromic deafness 52 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32. http://purl.obolibrary.org/obo/DOID_0050380 obsolete Campylobacter coli infectious disease http://purl.obolibrary.org/obo/DOID_0081025 achromatopsia 6 http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H) on chromosome 12p13. http://purl.obolibrary.org/obo/UBERON_2000364 hypural http://purl.obolibrary.org/obo/UBERON_2001364 hemal spine http://purl.obolibrary.org/obo/DOID_0110631 obsolete arthrogryposis due to muscular dystrophy A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome. http://purl.obolibrary.org/obo/DOID_0050381 obsolete Chlamydia trachomatis epididymitis http://purl.obolibrary.org/obo/DOID_0081026 benign peritoneal solitary fibrous tumor http://purl.obolibrary.org/obo/DOID_0060117 peritoneal benign neoplasm A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/DOID_0110638 obsolete congenital muscular dystrophy merosin-positive A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3. http://purl.obolibrary.org/obo/DOID_0050384 obsolete commensal Helicobacteraceae infectious disease http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. http://purl.obolibrary.org/obo/UBERON_0008789 cranial fossa http://purl.obolibrary.org/obo/UBERON_0004704 bone fossa http://purl.obolibrary.org/obo/DOID_0110836 obsolete Usher syndrome type 1J An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. http://purl.obolibrary.org/obo/DOID_0050385 obsolete commensal Helicobacter infectious disease http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by abnormalities in the small blood vessels in the brain. http://purl.obolibrary.org/obo/DOID_10007 obsolete respiratory syncytial virus bronchiolitis A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production. http://purl.obolibrary.org/obo/DOID_0050386 obsolete Acinetobacter baumannii pneumonia http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/DOID_0112314 autosomal dominant brain small vessel disease 2A http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease A brain small vessel disease characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_10049 obsolete desmoplastic melanoma A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck. http://purl.obolibrary.org/obo/DOID_0050388 obsolete Bacteroides fragilis peritonitis http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_0112315 brain small vessel disease 3 http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_10066 obsolete syphilitic acoustic neuritis A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved. http://purl.obolibrary.org/obo/DOID_0050389 obsolete Capnocytophaga canimorsus meningitis http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like structure http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_0112316 methemoglobinemia and ambiguous genitalia http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. http://purl.obolibrary.org/obo/DOID_10114 obsolete Trypanosoma brucei rhodesiense infectious disease A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems. http://purl.obolibrary.org/obo/DOID_0050390 obsolete Capnocytophaga canimorsus endocarditis http://purl.obolibrary.org/obo/UBERON_0004756 dermal skeletal element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_10116 obsolete Trypanosoma brucei gambiense infectious disease A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems. http://purl.obolibrary.org/obo/DOID_0050391 obsolete Elizabethkingia meningoseptica meningitis http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_0112318 Schindler disease type 1 http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_10150 obsolete lower limb cancer A malignant neoplasm that is manifested in the lower limb. http://purl.obolibrary.org/obo/DOID_0050392 obsolete streptococcal necrotizing fasciitis http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_0112319 Kanzaki disease http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_10233 obsolete Histoplasma capsulatum pericarditis An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. http://purl.obolibrary.org/obo/DOID_0050393 obsolete Chryseobacterium indologenes pneumonia http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_0112320 Schindler disease type 3 http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_10237 obsolete pelvic cancer A malignant neoplasm that is manifested in the pelvic region. http://purl.obolibrary.org/obo/DOID_0050394 obsolete nocardial pneumonia http://purl.obolibrary.org/obo/UBERON_0004742 dentary http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_0112321 alacrima, achalasia, and impaired intellectual development syndrome http://purl.obolibrary.org/obo/DOID_5212 congenital disorder of glycosylation A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_10263 obsolete Mumps virus hepatitis A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine. http://purl.obolibrary.org/obo/DOID_0050395 obsolete nocardial cellulitis http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. http://purl.obolibrary.org/obo/DOID_10277 obsolete Pseudomonas intestinal infectious disease A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess. http://purl.obolibrary.org/obo/DOID_0050396 obsolete nocardial keratitis http://purl.obolibrary.org/obo/UBERON_0000059 large intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0112323 pontocerebellar hypoplasia type 1D http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. http://purl.obolibrary.org/obo/DOID_10304 obsolete Mumps virus infectious disease A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. http://purl.obolibrary.org/obo/DOID_0050397 obsolete cerebral Bilophila wadsworthia infectious disease http://purl.obolibrary.org/obo/UBERON_0000160 intestine http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_0112324 pontocerebellar hypoplasia type 11 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. http://purl.obolibrary.org/obo/DOID_10305 obsolete Mumps virus orchitis A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen. http://purl.obolibrary.org/obo/DOID_0112325 pontocerebellar hypoplasia type 14 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. http://purl.obolibrary.org/obo/DOID_0050399 obsolete Bordetella pertussis whooping cough http://purl.obolibrary.org/obo/UBERON_0000165 mouth http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_10307 obsolete Mumps virus polyneuritis A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness. http://purl.obolibrary.org/obo/DOID_0112326 pontocerebellar hypoplasia type 15 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_0050400 obsolete Pseudomonas urinary tract infectious disease http://purl.obolibrary.org/obo/UBERON_0000945 stomach http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/DOID_10309 obsolete Mumps virus meningitis A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness. http://purl.obolibrary.org/obo/DOID_0112327 pontocerebellar hypoplasia type 12 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_0050401 obsolete Pseudomonas endocarditis http://purl.obolibrary.org/obo/UBERON_0001052 rectum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_10311 obsolete Mumps virus encephalitis A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech. http://purl.obolibrary.org/obo/DOID_0112328 pontocerebellar hypoplasia type 2 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. http://purl.obolibrary.org/obo/DOID_0050402 obsolete Pseudomonas keratitis http://purl.obolibrary.org/obo/UBERON_0001155 colon http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_10312 obsolete Mumps virus pancreatitis A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting. http://purl.obolibrary.org/obo/DOID_0112329 pontocerebellar hypoplasia type 2F http://purl.obolibrary.org/obo/DOID_0112328 pontocerebellar hypoplasia type 2 A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/DOID_0050403 obsolete commensal Mycoplasmatales infectious disease http://purl.obolibrary.org/obo/UBERON_0002108 small intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0080378 obsolete Zellweger spectrum disorder http://purl.obolibrary.org/obo/DOID_0112330 pontocerebellar hypoplasia type 1E http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. http://purl.obolibrary.org/obo/DOID_0050404 obsolete commensal Mycoplasmataceae infectious disease http://purl.obolibrary.org/obo/DOID_0050405 obsolete Mycoplasma genitalium urethritis http://purl.obolibrary.org/obo/UBERON_0002114 duodenum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_0080423 obsolete early infantile epileptic encephalopathy 39 http://purl.obolibrary.org/obo/DOID_0112331 pontocerebellar hypoplasia type 1F http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. http://purl.obolibrary.org/obo/DOID_0050406 obsolete Yersinia pseudotuberculosis mesenteric lymphadenitis http://purl.obolibrary.org/obo/UBERON_0002115 jejunum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_0080466 obsolete multiple congenital anomalies-hypotonia-seizures syndrome 2 http://purl.obolibrary.org/obo/DOID_0112332 pontocerebellar hypoplasia type 13 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/DOID_0050407 obsolete commensal Mycoplasma infectious disease http://purl.obolibrary.org/obo/DOID_0050408 obsolete Staphylococcus aureus ecthyma http://purl.obolibrary.org/obo/UBERON_0002116 ileum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_0080469 obsolete congenital disorder of glycosylation type 2m http://purl.obolibrary.org/obo/DOID_0112333 pontocerebellar hypoplasia type 16 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. http://purl.obolibrary.org/obo/DOID_0050409 obsolete Streptococcus pyogenes ecthyma http://purl.obolibrary.org/obo/UBERON_0006562 pharynx http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_1801 obsolete secondary malignant neoplasm to the pancreas http://purl.obolibrary.org/obo/DOID_0112334 pontocerebellar hypoplasia type 1C http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. http://purl.obolibrary.org/obo/DOID_0050410 obsolete streptococcal erysipelas http://purl.obolibrary.org/obo/UBERON_0000168 proximal-distal subdivision of colon http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_1823 obsolete petit mal status http://purl.obolibrary.org/obo/DOID_0112335 spermatogenic failure 54 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_0050411 obsolete Staphylococcus aureus erysipelas http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/DOID_1832 obsolete Mild hyperemesis gravidarum http://purl.obolibrary.org/obo/DOID_0112336 spermatogenic failure 56 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0050412 obsolete Streptococcus impetigo http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/DOID_0112337 spermatogenic failure 55 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12. http://purl.obolibrary.org/obo/DOID_1873 obsolete abortion complicated by metabolic disorder http://purl.obolibrary.org/obo/DOID_0050413 obsolete Staphylococcus aureus impetigo http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0112338 spermatogenic failure 57 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. http://purl.obolibrary.org/obo/DOID_1908 obsolete cutaneous fibrohistiocytic neoplasm http://purl.obolibrary.org/obo/DOID_0050414 obsolete Streptococcus lymphangitis http://purl.obolibrary.org/obo/DOID_0050415 obsolete Staphylococcus aureus lymphangitis http://purl.obolibrary.org/obo/UBERON_0002523 tunica intima http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31. http://purl.obolibrary.org/obo/DOID_1912 obsolete metastasis to vagina http://purl.obolibrary.org/obo/DOID_0050416 obsolete Streptococcus agalactiae meningitis http://purl.obolibrary.org/obo/UBERON_0005358 ventricle of nervous system http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. http://purl.obolibrary.org/obo/DOID_1913 obsolete alternating exotropia with A pattern http://purl.obolibrary.org/obo/DOID_0050417 obsolete Streptococcus equisimilis meningitis http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0112360 spondylocostal dysostosis 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. http://purl.obolibrary.org/obo/DOID_1922 obsolete endocrine syndrome http://purl.obolibrary.org/obo/DOID_0050418 obsolete Streptococcus zooepidemicus meningitis http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0112361 spondylocostal dysostosis 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. http://purl.obolibrary.org/obo/DOID_1938 obsolete primary Bacillaceae infectious disease http://purl.obolibrary.org/obo/DOID_0050420 obsolete primary Streptococcaceae infectious disease http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0112362 spondylocostal dysostosis 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_194 obsolete gonadal tissue neoplasm http://purl.obolibrary.org/obo/DOID_0050421 obsolete primary streptococcal infectious disease http://purl.obolibrary.org/obo/UBERON_0018260 layer of muscle tissue http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0112363 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/DOID_0050739 autosomal genetic disease A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_1941 obsolete intermittent alternating exotropia http://purl.obolibrary.org/obo/DOID_0050422 obsolete Yersinia pseudotuberculosis gastroenteritis http://purl.obolibrary.org/obo/DOID_0050423 obsolete enteroaggregative Escherichia coli infectious disease http://purl.obolibrary.org/obo/UBERON_0022351 parietal serous membrane http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0112364 spondylocostal dysostosis 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_195 obsolete reproductive endocrine cancer http://purl.obolibrary.org/obo/DOID_0050455 obsolete arachnodactyly http://purl.obolibrary.org/obo/DOID_0050478 obsolete primary Escherichia coli infectious disease http://purl.obolibrary.org/obo/UBERON_0034933 layer of smooth muscle tissue http://purl.obolibrary.org/obo/UBERON_0018260 layer of muscle tissue http://purl.obolibrary.org/obo/DOID_0112365 spondylocostal dysostosis 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_1954 obsolete benign hypertensive heart disease http://purl.obolibrary.org/obo/DOID_0050479 obsolete commensal Klebsiella infectious disease http://purl.obolibrary.org/obo/UBERON_0006810 olecranon http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/SYMP_0020000 airway stenosis http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a narrowing in the airway that obstructs the passage of air into the lungs. Examples include tracheal and laryngotracheal stenosis. http://purl.obolibrary.org/obo/DOID_196 obsolete acinar cell tumor http://purl.obolibrary.org/obo/DOID_0050482 obsolete lymphangitis-associated rickettsiosis http://purl.obolibrary.org/obo/UBERON_0001437 epiphysis http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/SYMP_0020001 apthous ulcer http://purl.obolibrary.org/obo/SYMP_0000136 skin ulcer A skin ulcer that is characterized by a small recurrent, painful, round or ovoid ulcers with well-defined erythematous margins, like a halo, and a central yellow or gray floor found in the soft tissue of the oral cavity. http://purl.obolibrary.org/obo/DOID_1966 obsolete fallopian tube soft tissue neoplasm http://purl.obolibrary.org/obo/SYMP_0020004 ageusia http://purl.obolibrary.org/obo/SYMP_0000551 disturbances of sensation of smell and taste A disturbances of sensation of smell and taste that is characterized by a complete loss of taste function of the tongue. http://purl.obolibrary.org/obo/DOID_0050483 obsolete Rickettsia aeschlimannii spotted fever http://purl.obolibrary.org/obo/UBERON_0001438 metaphysis http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/DOID_197 obsolete glandular cell epithelial neoplasm http://purl.obolibrary.org/obo/SYMP_0020006 agitation http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a feeling of irritability or severe restlessness. http://purl.obolibrary.org/obo/DOID_0050492 obsolete tertiary syphilitic encephalitis http://purl.obolibrary.org/obo/UBERON_0001300 scrotum http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/DOID_1977 obsolete lipoma of the mediastinum http://purl.obolibrary.org/obo/DOID_0081336 Thomsen disease http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0050493 obsolete tertiary syphilitic meningitis http://purl.obolibrary.org/obo/UBERON_0005352 spermatic cord http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/DOID_1978 obsolete juxtapapillary focal choroiditis and chorioretinitis http://purl.obolibrary.org/obo/DOID_0070363 bradyopsia 1 http://purl.obolibrary.org/obo/DOID_0050335 bradyopsia A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. http://purl.obolibrary.org/obo/DOID_0050507 obsolete AIDS-related cryptosporidiosis http://purl.obolibrary.org/obo/UBERON_0009853 body of uterus http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/DOID_198 obsolete mesonephric tumor http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by hypotonia and weakness, usually present from birth. http://purl.obolibrary.org/obo/DOID_0050509 obsolete AIDS-related toxoplasmosis http://purl.obolibrary.org/obo/UBERON_0011374 prepuce http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/DOID_1986 obsolete perinatal disease http://purl.obolibrary.org/obo/DOID_0070521 peeling skin syndrome 2 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. http://purl.obolibrary.org/obo/DOID_0050510 obsolete AIDS-related cystoisosporiasis http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_1987 obsolete fetal disease http://purl.obolibrary.org/obo/DOID_0081401 autosomal dominant distal hereditary motor neuronopathy 13 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_0050525 obsolete acroosteolysis http://purl.obolibrary.org/obo/UBERON_0012337 cauda equina http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_1990 obsolete metastasis to the rectum http://purl.obolibrary.org/obo/DOID_0070525 peeling skin syndrome 6 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_0050527 obsolete familial hypertriglyceridemia http://purl.obolibrary.org/obo/DOID_0050531 obsolete lentiginosis profusa http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_1991 obsolete metastases to large Intestine http://purl.obolibrary.org/obo/DOID_0081406 round cell sarcoma with EWSR1-non-ETS fusion http://purl.obolibrary.org/obo/DOID_3098 small cell sarcoma A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. http://purl.obolibrary.org/obo/DOID_0050532 obsolete epidermal nevus http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_2010 obsolete impaired mobility of ear ossicles except malleus http://purl.obolibrary.org/obo/DOID_0070595 X-linked spermatogenic failure 4 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0050533 obsolete soldiers heart http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_2014 obsolete perinatal digestive system disorder http://purl.obolibrary.org/obo/DOID_0070564 dialysis disequilibrium syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma. http://purl.obolibrary.org/obo/DOID_2022 obsolete metastatic neoplasm to the placenta http://purl.obolibrary.org/obo/DOID_0050550 obsolete Majewski syndrome http://purl.obolibrary.org/obo/UBERON_0001774 skeletal muscle of trunk http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_2027 obsolete fetal or neonatal hemorrhage http://purl.obolibrary.org/obo/DOID_0050551 obsolete Verma-Naumoff syndrome http://purl.obolibrary.org/obo/UBERON_0000965 lens of camera-type eye http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/DOID_0060986 preaxial polydactyly II http://purl.obolibrary.org/obo/DOID_1148 polydactyly A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_2038 obsolete urogenital abnormality http://purl.obolibrary.org/obo/DOID_0050583 obsolete Chlamydophila pneumoniae infectious disease http://purl.obolibrary.org/obo/UBERON_0010145 paraurethral gland http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/UBERON_0011826 vestibular gland http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/DOID_0051014 atypical autosomal dominant adult-onset demyelinating leukodystrophy http://purl.obolibrary.org/obo/DOID_0051015 adult onset demyelinating leukodystrophy An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. http://purl.obolibrary.org/obo/DOID_2062 obsolete vulvar tumor of skin appendage origin http://purl.obolibrary.org/obo/DOID_0050616 obsolete malignant Leydig cell tumor http://purl.obolibrary.org/obo/UBERON_0010147 male accessory sex gland http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/DOID_0051015 adult onset demyelinating leukodystrophy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. http://purl.obolibrary.org/obo/DOID_2069 obsolete vulvar acquired melanocytic nevus http://purl.obolibrary.org/obo/DOID_0050617 obsolete malignant Sertoli cell tumor http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/DOID_0051016 visceral heterotaxy 1 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_2070 obsolete vulvar melanocytic neoplasm http://purl.obolibrary.org/obo/DOID_0050618 obsolete malignant Sertoli-Leydig cell tumor http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/DOID_0051017 visceral heterotaxy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21. http://purl.obolibrary.org/obo/DOID_2077 obsolete vulvar congenital melanocytic nevus http://purl.obolibrary.org/obo/DOID_0050643 obsolete anonychia congenita http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/UBERON_0005744 bone foramen http://purl.obolibrary.org/obo/DOID_0051018 visceral heterotaxy 3 http://purl.obolibrary.org/obo/DOID_0050545 visceral heterotaxy A visceral heterotaxy that has been mapped to chromosome 6q21. http://purl.obolibrary.org/obo/DOID_208 obsolete hereditary neoplastic syndrome http://purl.obolibrary.org/obo/DOID_0050652 obsolete soft tissue cancer http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/DOID_0051019 visceral heterotaxy 4 http://purl.obolibrary.org/obo/DOID_0050545 visceral heterotaxy A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_2083 obsolete vulvar soft tissue tumor http://purl.obolibrary.org/obo/DOID_0050653 obsolete dysplastic nevus http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/UBERON_0005913 zone of bone organ http://purl.obolibrary.org/obo/UBERON_0001463 thumb http://purl.obolibrary.org/obo/UBERON_0019231 manual digit 1 or 5 http://purl.obolibrary.org/obo/DOID_0051020 visceral heterotaxy 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_2085 obsolete vulvar blue nevus http://purl.obolibrary.org/obo/DOID_0050707 obsolete nonsyndromic epilepsy http://purl.obolibrary.org/obo/UBERON_0003631 big toe http://purl.obolibrary.org/obo/UBERON_0019241 pedal digit 1 or 5 http://purl.obolibrary.org/obo/DOID_0051021 visceral heterotaxy 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_0051022 visceral heterotaxy 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12. http://purl.obolibrary.org/obo/DOID_2086 obsolete blue nevus http://purl.obolibrary.org/obo/DOID_0050756 obsolete CLN3 disease http://purl.obolibrary.org/obo/DOID_0050761 obsolete paramyloidosis http://purl.obolibrary.org/obo/DOID_0050875 obsolete small cell neuroendocrine carcinoma of the lung http://purl.obolibrary.org/obo/UBERON_0000978 leg http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/UBERON_0005486 venous dural sinus http://purl.obolibrary.org/obo/UBERON_0006615 venous sinus http://purl.obolibrary.org/obo/DOID_0051023 visceral heterotaxy 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_2088 obsolete outlet dysfunction constipation http://purl.obolibrary.org/obo/DOID_0050878 obsolete CLONE OF congenital afibrinogenemia http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/UBERON_0013141 capillary bed http://purl.obolibrary.org/obo/UBERON_0007502 epithelial plexus http://purl.obolibrary.org/obo/UBERON_0001810 nerve plexus http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/DOID_0051024 visceral heterotaxy 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_2094 obsolete vulvar sweat gland cancer http://purl.obolibrary.org/obo/DOID_2099 obsolete extramammary Paget's disease http://purl.obolibrary.org/obo/DOID_0060069 obsolete Bacillus cereus pneumonia http://purl.obolibrary.org/obo/UBERON_1100000 digestive tract junction http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/DOID_0051025 visceral heterotaxy 11 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_2100 obsolete vulvar metastasis http://purl.obolibrary.org/obo/DOID_0060120 obsolete skeletal system benign neoplasm http://purl.obolibrary.org/obo/UBERON_0003406 cartilage of respiratory system http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_0051026 visceral heterotaxy 12 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_211 obsolete Ankle or tarsus enthesopathy http://purl.obolibrary.org/obo/DOID_0051027 visceral heterotaxy 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0060171 obsolete Dravet syndrome http://purl.obolibrary.org/obo/UBERON_0003933 cranial cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_2124 obsolete intracranial neoplasm http://purl.obolibrary.org/obo/DOID_0051028 autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0051029 mitochondrial DNA depletion syndrome-21 http://purl.obolibrary.org/obo/DOID_0070329 mitochondrial DNA depletion syndrome A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum http://purl.obolibrary.org/obo/UBERON_0011135 intervertebral cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_2128 obsolete intracranial germinoma http://purl.obolibrary.org/obo/DOID_2131 obsolete childhood malignant central nervous system neoplasm http://purl.obolibrary.org/obo/DOID_2147 obsolete ovary soft tissue neoplasm http://purl.obolibrary.org/obo/DOID_2158 obsolete lung metastasis http://purl.obolibrary.org/obo/DOID_0051030 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0051031 primary autosomal recessive microcephaly 20 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_0051032 primary autosomal recessive microcephaly 21 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0051033 primary autosomal recessive microcephaly 22 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. http://purl.obolibrary.org/obo/DOID_0080013 obsolete mitochondrial disease http://purl.obolibrary.org/obo/DOID_0080017 obsolete olivopontocerebellar atrophy V http://purl.obolibrary.org/obo/UBERON_0001465 knee http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/DOID_2172 obsolete malignant eyelid tumor http://purl.obolibrary.org/obo/DOID_2177 obsolete complications mainly related to pregnancy http://purl.obolibrary.org/obo/DOID_0051034 primary autosomal recessive microcephaly 23 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_0080022 obsolete McKusick type metaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080023 obsolete Shwachman-Diamond type metaphyseal dysplasia http://purl.obolibrary.org/obo/UBERON_0011136 ligament of vertebral column http://purl.obolibrary.org/obo/UBERON_0008846 skeletal ligament http://purl.obolibrary.org/obo/DOID_2179 obsolete diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations http://purl.obolibrary.org/obo/DOID_2180 obsolete diabetic oculopathy http://purl.obolibrary.org/obo/DOID_2186 obsolete macrocephaly http://purl.obolibrary.org/obo/DOID_0051035 primary autosomal recessive microcephaly 24 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0080024 obsolete Pyles dysplasia http://purl.obolibrary.org/obo/UBERON_0001705 nail http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/DOID_2212 obsolete coagulation protein disease http://purl.obolibrary.org/obo/DOID_0051036 primary autosomal recessive microcephaly 25 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_0051037 autosomal dominant primary microcephaly 26 http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. http://purl.obolibrary.org/obo/DOID_0080048 obsolete trichorhinophalangeal syndrome I http://purl.obolibrary.org/obo/DOID_0080088 obsolete nonsyndromic congenital nail disorder 10 http://purl.obolibrary.org/obo/UBERON_0000916 abdomen http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0002356 perineum http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/DOID_2225 obsolete megakaryocytic tumor http://purl.obolibrary.org/obo/DOID_0051038 autosomal dominant primary microcephaly 27 http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0110172 obsolete Charcot-Marie-Tooth disease axonal type 2G http://purl.obolibrary.org/obo/UBERON_0001153 caecum http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0001160 fundus of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_2227 obsolete malignant neoplasm of lymphatic and hemopoietic tissue http://purl.obolibrary.org/obo/DOID_0051039 primary autosomal recessive microcephaly 28 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0110286 obsolete autosomal recessive limb-girdle muscular dystrophy type 2R http://purl.obolibrary.org/obo/UBERON_0001162 cardia of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_2230 obsolete hemophilia http://purl.obolibrary.org/obo/DOID_0051040 primary autosomal recessive microcephaly 29 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_0051041 primary autosomal recessive microcephaly 30 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_0110300 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A http://purl.obolibrary.org/obo/UBERON_0001165 pyloric antrum http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_2232 obsolete coagulation factor deficiency http://purl.obolibrary.org/obo/DOID_0061025 familial restrictive cardiomyopathy 6 http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0110301 obsolete autosomal dominant limb-girdle muscular dystrophy type 1B http://purl.obolibrary.org/obo/DOID_0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C http://purl.obolibrary.org/obo/UBERON_0001166 pylorus http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_2233 obsolete partial epilepsy with impairment of consciousness http://purl.obolibrary.org/obo/DOID_2242 obsolete mild recurrent major depression http://purl.obolibrary.org/obo/DOID_2255 obsolete short rib-polydactyly syndrome http://purl.obolibrary.org/obo/DOID_2257 obsolete primary Spirochaetales infectious disease http://purl.obolibrary.org/obo/DOID_0061026 hereditary pyropoikilocytosis http://purl.obolibrary.org/obo/DOID_583 hemolytic anemia A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene. http://purl.obolibrary.org/obo/DOID_0110325 obsolete hypertrophic cardiomyopathy 19 http://purl.obolibrary.org/obo/UBERON_0000964 cornea http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/DOID_2265 obsolete Treponema infectious disease http://purl.obolibrary.org/obo/DOID_2279 obsolete joint derangement http://purl.obolibrary.org/obo/DOID_0061027 Duane retraction syndrome 1 http://purl.obolibrary.org/obo/DOID_12557 Duane retraction syndrome A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13. http://purl.obolibrary.org/obo/DOID_0110466 obsolete autosomal recessive nonsyndromic deafness 105 http://purl.obolibrary.org/obo/DOID_0110748 obsolete type 1 diabetes mellitus 9 http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_2313 obsolete primary Actinomycetales infectious disease http://purl.obolibrary.org/obo/DOID_2321 obsolete dyspepsia http://purl.obolibrary.org/obo/DOID_0061028 Duane retraction syndrome 2 http://purl.obolibrary.org/obo/DOID_12557 Duane retraction syndrome A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0061029 Duane retraction syndrome 3 http://purl.obolibrary.org/obo/DOID_12557 Duane retraction syndrome A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. http://purl.obolibrary.org/obo/DOID_0110762 obsolete hereditary spastic paraplegia 1 http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_2323 obsolete prostate non-neoplastic disease http://purl.obolibrary.org/obo/DOID_0061030 hemophilia http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding. http://purl.obolibrary.org/obo/DOID_10000 obsolete visual cortex disorder due to neoplasm http://purl.obolibrary.org/obo/DOID_1001 obsolete labor complications http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_2325 obsolete enterovirus meningitis http://purl.obolibrary.org/obo/DOID_233 obsolete ocular tuberculosis http://purl.obolibrary.org/obo/DOID_0061103 retinitis pigmentosa 76 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0061104 retinitis pigmentosa 96 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0061105 retinitis pigmentosa 93 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_10012 obsolete metastatic malignant neoplasm to the thyroid http://purl.obolibrary.org/obo/DOID_10013 obsolete polyglandular activity in multiple endocrine adenomatosis http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0003947 brain ventricle/choroid plexus http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_2350 obsolete iron overload http://purl.obolibrary.org/obo/DOID_0061106 retinitis pigmentosa 91 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_10015 obsolete polyglandular dysfunction http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_2369 obsolete diabetes mellitus insulin dependent type not stated as uncontrolled with renal manifestations http://purl.obolibrary.org/obo/DOID_0061107 retinitis pigmentosa 92 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_10018 obsolete papilledema associated with increased intracranial pressure http://purl.obolibrary.org/obo/DOID_10038 obsolete old burn scar-related melanoma of skin http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_237 obsolete adhesions and disruptions of iris and ciliary body http://purl.obolibrary.org/obo/DOID_2370 obsolete diabetic nephropathy http://purl.obolibrary.org/obo/DOID_0061108 retinitis pigmentosa 79 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_10042 obsolete regressing skin melanoma http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_2376 obsolete chronic progressive multiple sclerosis http://purl.obolibrary.org/obo/DOID_0061109 retinitis pigmentosa 98 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_10045 obsolete malignant giant pigmented nevus melanoma http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_2385 obsolete thiamine deficiency http://purl.obolibrary.org/obo/DOID_0061110 retinitis pigmentosa 97 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_10048 obsolete malignant junctional nevus melanoma http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_2389 obsolete fibromuscular dysplasia http://purl.obolibrary.org/obo/DOID_0061111 retinitis pigmentosa 80 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_10053 obsolete malignant skin blue nevus http://purl.obolibrary.org/obo/UBERON_0034978 paraganglion (generic) http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/DOID_239 obsolete iridodialysis http://purl.obolibrary.org/obo/DOID_2399 obsolete ovarian clear cell neoplasm http://purl.obolibrary.org/obo/DOID_0061112 retinitis pigmentosa 95 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_10059 obsolete Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/UBERON_0010011 collection of basal ganglia http://purl.obolibrary.org/obo/UBERON_0010009 aggregate regional part of brain http://purl.obolibrary.org/obo/DOID_2402 obsolete lymphangiectasis http://purl.obolibrary.org/obo/DOID_0061113 retinitis pigmentosa 78 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_10111 obsolete Congenital or acquired abnormality of vagina, with delivery http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/UBERON_0014382 collection of hairs on head or neck http://purl.obolibrary.org/obo/DOID_2412 obsolete skin tumor of neural origin http://purl.obolibrary.org/obo/DOID_0061114 autosomal recessive intellectual developmental disorder 83 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. http://purl.obolibrary.org/obo/DOID_10120 obsolete eyelid degenerative disease http://purl.obolibrary.org/obo/DOID_10121 obsolete degenerative disorder of eyelid and periocular area http://purl.obolibrary.org/obo/DOID_10141 obsolete asthenopia http://purl.obolibrary.org/obo/UBERON_0014382 collection of hairs on head or neck http://purl.obolibrary.org/obo/UBERON_0010164 collection of hairs http://purl.obolibrary.org/obo/DOID_2413 obsolete epithelioid and spindle cell nevus http://purl.obolibrary.org/obo/DOID_2415 obsolete benign skin melanocytic nevus http://purl.obolibrary.org/obo/DOID_0061115 Carey-Fineman-Ziter syndrome 1 http://purl.obolibrary.org/obo/DOID_0080194 Carey-Fineman-Ziter syndrome A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_10142 obsolete Chlamydia trachomatis peritonitis http://purl.obolibrary.org/obo/UBERON_0010167 beard http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/DOID_2417 obsolete melanocytic nevus http://purl.obolibrary.org/obo/DOID_2421 obsolete skin fibrous tissue neoplasm http://purl.obolibrary.org/obo/DOID_0061116 Carey-Fineman-Ziter syndrome 2 http://purl.obolibrary.org/obo/DOID_0080194 Carey-Fineman-Ziter syndrome A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_10144 obsolete secondary malignant neoplasm to the thymus http://purl.obolibrary.org/obo/UBERON_0010163 eyebrow http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/DOID_2423 obsolete halo nevus http://purl.obolibrary.org/obo/DOID_2424 obsolete intradermal nevus http://purl.obolibrary.org/obo/DOID_0061117 Perrault syndrome 2 http://purl.obolibrary.org/obo/DOID_0050857 Perrault syndrome A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_10145 obsolete metastases to mediastinum http://purl.obolibrary.org/obo/UBERON_3000701 intervertebral space http://purl.obolibrary.org/obo/UBERON_0010276 space in vertebral column http://purl.obolibrary.org/obo/DOID_2434 obsolete intraepidermal nevus http://purl.obolibrary.org/obo/DOID_0061118 autosomal dominant tubulointerstitial kidney disease 2 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_1016 obsolete primary tuberculosis http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/DOID_2437 obsolete skin compound nevus http://purl.obolibrary.org/obo/DOID_2446 obsolete gigantism http://purl.obolibrary.org/obo/DOID_0061119 autosomal dominant tubulointerstitial kidney disease 4 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_10173 obsolete tuberculous myelitis http://purl.obolibrary.org/obo/UBERON_0001708 jaw skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/DOID_2467 obsolete reactive confusion http://purl.obolibrary.org/obo/DOID_0061120 autosomal dominant tubulointerstitial kidney disease 5 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_10182 obsolete diabetic peripheral angiopathy http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/DOID_2469 obsolete swine erysipelas http://purl.obolibrary.org/obo/DOID_0061121 autosomal dominant tubulointerstitial kidney disease 6 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_10191 obsolete autosomal deletion syndrome http://purl.obolibrary.org/obo/UBERON_0015019 rib endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/DOID_2470 obsolete Erysipelothrix infectious disease http://purl.obolibrary.org/obo/DOID_0061122 autosomal dominant tubulointerstitial kidney disease 1 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_0070634 sitosterolemia 1 http://purl.obolibrary.org/obo/DOID_0090019 sitosterolemia A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21. http://purl.obolibrary.org/obo/DOID_10202 obsolete lipoma of intrathoracic organ http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/DOID_2471 obsolete Erysipelothrix rhusiopathiae infectious disease http://purl.obolibrary.org/obo/DOID_10204 obsolete lipoma of intra-abdominal organ http://purl.obolibrary.org/obo/DOID_0051078 congenital anomalies of the kidney and urinary tract 3 http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the NRIP1 gene on chromosome 21q11-q21. http://purl.obolibrary.org/obo/UBERON_0015060 sphenoid endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/DOID_2487 obsolete hypercholesterolemia http://purl.obolibrary.org/obo/DOID_10210 obsolete calculus of gallbladder and bile duct without cholecystitis http://purl.obolibrary.org/obo/DOID_0051080 Alport syndrome 3B http://purl.obolibrary.org/obo/DOID_10983 Alport syndrome An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present. http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/DOID_2492 obsolete hereditary peripheral neuropathy http://purl.obolibrary.org/obo/DOID_10220 obsolete failed induction http://purl.obolibrary.org/obo/DOID_0051081 polycystic kidney disease 8 http://purl.obolibrary.org/obo/DOID_898 autosomal dominant polycystic kidney disease An autosomal dominant polycystic kidney disease that is characterized by enlarged kidneys, arterial hypertension, and kidney failure and that has_material_basis_in heterozygous mutation in the NEK8 gene on chromosome 17q11. http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/DOID_250 obsolete chronic brain damage http://purl.obolibrary.org/obo/DOID_10222 obsolete polymyositis http://purl.obolibrary.org/obo/DOID_10226 obsolete single episode manic disorder http://purl.obolibrary.org/obo/DOID_0051082 Parkinson's disease 27 http://purl.obolibrary.org/obo/DOID_14330 Parkinson's disease A Parkinson's disease that has_material_basis_in mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/DOID_2514 obsolete meningococcal optic neuritis http://purl.obolibrary.org/obo/DOID_10229 obsolete partial epilepsy, with impairment of consciousness, with intractable epilepsy http://purl.obolibrary.org/obo/DOID_0061271 liver glycogen storage disease http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GYS2 gene which encodes glycogen synthase-2, on chromosome 12p12. http://purl.obolibrary.org/obo/UBERON_0006058 multi-limb segment region http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/DOID_2515 obsolete meningococcal infectious disease http://purl.obolibrary.org/obo/DOID_10238 obsolete malignant neoplasm of rectum, rectosigmoid junction and anus http://purl.obolibrary.org/obo/DOID_0061272 muscle glycogen storage disease http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease charaterized by childhood-onset condition with exercise intolerance, arrhythmia, cardiomyopathy, and sudden death that has_material_basis_in homozygous mutation in the GYS1 gene which encodes muscle glycogen synthase, on chromosome 19q13. http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/DOID_2524 obsolete abnormal glucose tolerance in mother complicating pregnancy childbirth and/or puerperium http://purl.obolibrary.org/obo/DOID_2545 obsolete congenital epilepsy http://purl.obolibrary.org/obo/DOID_10239 obsolete malignant neoplasm of pelvic bones, sacrum and coccyx http://purl.obolibrary.org/obo/DOID_0061285 glycogen storage disease X http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the PGAM2 gene, which encodes muscle phosphoglycerate mutase, on chromosome 7p13. http://purl.obolibrary.org/obo/UBERON_0014795 pelvic appendage muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_10240 obsolete malignant neoplasm of pelvis http://purl.obolibrary.org/obo/DOID_2546 obsolete atonic epilepsy http://purl.obolibrary.org/obo/DOID_10245 obsolete delayed separation of umbilical cord http://purl.obolibrary.org/obo/UBERON_0011141 appendicular ossicle http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/DOID_0061286 glycogen storage disease XI http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous mutation in the LDHA gene, which encodes lactate dehydrogenase, on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_10255 obsolete conjunctival degenerations and deposits http://purl.obolibrary.org/obo/DOID_2547 obsolete intractable epilepsy http://purl.obolibrary.org/obo/UBERON_0013631 sesamoid element http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/DOID_0061287 glycogen storage disease XII http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous mutation in the ALDOA gene which encodes fructose-1,6-bisphosphate aldolase A, on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_10256 obsolete vitamin A deficiency with conjunctival xerosis http://purl.obolibrary.org/obo/DOID_2549 obsolete aggravated epilepsy http://purl.obolibrary.org/obo/UBERON_0002209 fibrous joint http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/DOID_0061288 glycogen storage disease XIII http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the ENO3 gene, which encodes beta-enolase, on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_10257 obsolete vitamin A deficiency http://purl.obolibrary.org/obo/DOID_2551 obsolete anosognostic epilepsy http://purl.obolibrary.org/obo/UBERON_0002213 cartilaginous joint http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/DOID_0061289 Galloway-Mowat syndrome 6 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_10265 obsolete hairy cell leukemia of spleen http://purl.obolibrary.org/obo/DOID_2563 obsolete Serratia septicemia http://purl.obolibrary.org/obo/UBERON_0001066 intervertebral disk http://purl.obolibrary.org/obo/UBERON_0011135 intervertebral cartilage http://purl.obolibrary.org/obo/DOID_0061290 Galloway-Mowat syndrome 7 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. http://purl.obolibrary.org/obo/DOID_0061291 Galloway-Mowat syndrome 8 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy that has_material_basis_in homozygous mutation in the NUP133 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_2567 obsolete primary Enterobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_10274 obsolete schizo-affective type schizophrenia in remission http://purl.obolibrary.org/obo/UBERON_0000956 cerebral cortex http://purl.obolibrary.org/obo/UBERON_0016548 central nervous system gray matter layer http://purl.obolibrary.org/obo/DOID_0061292 Galloway-Mowat syndrome 9 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood that has_material_basis_in homozygous mutation in the GON7 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_2573 obsolete drug-induced delirium http://purl.obolibrary.org/obo/DOID_2574 obsolete diabetes mellitus insulin dependent type uncontrolled with renal manifestations http://purl.obolibrary.org/obo/DOID_10278 obsolete Vasa previa complicating labor and delivery http://purl.obolibrary.org/obo/DOID_10279 obsolete Vasa previa http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/DOID_0061293 Galloway-Mowat syndrome 10 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome characterized by onset of symptoms soon after birth that has_material_basis_in homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_2584 obsolete nephrotic syndrome with lesion of endothelial glomerulonephritis http://purl.obolibrary.org/obo/DOID_10280 obsolete Vasa previa complicating labor and delivery, delivered http://purl.obolibrary.org/obo/UBERON_0016550 spinal cord column http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/DOID_0061294 Meckel syndrome 9 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in compound heterozygous mutation in the B9D1 gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_2585 obsolete nephrotic syndrome with lesion of segmental hyalinosis http://purl.obolibrary.org/obo/DOID_10288 obsolete metastasis to prostate http://purl.obolibrary.org/obo/UBERON_0000010 peripheral nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_0061295 Meckel syndrome 10 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D2 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_2586 obsolete nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis http://purl.obolibrary.org/obo/DOID_10294 obsolete intermittent monocular esotropia http://purl.obolibrary.org/obo/DOID_10295 obsolete monocular esotropia with A pattern http://purl.obolibrary.org/obo/UBERON_0002410 autonomic nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_0061296 Meckel syndrome 11 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in homozygous mutation in the TMEM231 gene on chromosome 16q23. http://purl.obolibrary.org/obo/UBERON_0006558 lymphatic part of lymphoid system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_2587 obsolete nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis http://purl.obolibrary.org/obo/DOID_10296 obsolete monocular esotropia with V pattern http://purl.obolibrary.org/obo/DOID_0061297 Meckel syndrome 12 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in a compound heterozygous mutation in the KIF14 gene on chromosome 1q31. http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_2588 obsolete nephrotic syndrome with lesion of persistent glomerulonephritis http://purl.obolibrary.org/obo/DOID_2589 obsolete nephrotic syndrome with lesion of membranous glomerulonephritis http://purl.obolibrary.org/obo/DOID_10332 obsolete disorder of optic chiasm due to vascular disorder http://purl.obolibrary.org/obo/DOID_0061298 retinitis pigmentosa 100 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by the onset of night blindness in childhood or young adulthood, followed by progressive visual field constriction and that has_material_basis_in compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22. http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_259 obsolete abortion complicated by embolism http://purl.obolibrary.org/obo/DOID_10334 obsolete craniofacial abnormality http://purl.obolibrary.org/obo/DOID_0061299 retinitis pigmentosa 101 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that has_material_basis_in compound heterozygous or homozygous mutation in the CLN3 gene on chromosome 16p12. http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_10338 obsolete subchronic schizophrenia http://purl.obolibrary.org/obo/DOID_0061300 Hermansky-Pudlak syndrome 10 http://purl.obolibrary.org/obo/DOID_3753 Hermansky-Pudlak syndrome A Hermansky-Pudlak syndrome characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures that has_material_basis_in homozygous mutation in the AP3D1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_2591 obsolete nephrotic syndrome with lesion of lobular glomerulonephritis http://purl.obolibrary.org/obo/DOID_10339 obsolete schizophrenia simplex http://purl.obolibrary.org/obo/DOID_0061301 Hermansky-Pudlak syndrome 11 http://purl.obolibrary.org/obo/DOID_3753 Hermansky-Pudlak syndrome A Hermansky-Pudlak syndrome characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis that has_material_basis_in homozygous mutation in the BLOC1S5 gene on chromosome 6p24. http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/DOID_2592 obsolete nephrotic syndrome with lesion of focal glomerulosclerosis http://purl.obolibrary.org/obo/DOID_10340 obsolete residual subchronic schizophrenia http://purl.obolibrary.org/obo/DOID_10342 obsolete subchronic latent schizophrenia http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus http://purl.obolibrary.org/obo/DOID_10908 hydrocephalus A hydrocephalus characterized by fetal or congenital onset. http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/DOID_2620 obsolete ductal, lobular, and medullary neoplasm http://purl.obolibrary.org/obo/UBERON_0001961 mucosa-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0012069 epithelium-associated lymphoid tissue http://purl.obolibrary.org/obo/DOID_2622 obsolete neuroblastic tumor http://purl.obolibrary.org/obo/DOID_2623 obsolete neuronal and glio-neuronal neoplasm http://purl.obolibrary.org/obo/DOID_2629 obsolete papillary serous cystadenoma http://purl.obolibrary.org/obo/DOID_10343 obsolete latent schizophrenia http://purl.obolibrary.org/obo/DOID_0070682 congenital hydrocephalus 1 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the CCDC88C gene on chromosome 14q32. http://purl.obolibrary.org/obo/UBERON_0015189 perineural vascular plexus http://purl.obolibrary.org/obo/UBERON_0013141 capillary bed http://purl.obolibrary.org/obo/DOID_2630 obsolete papillary cystadenoma http://purl.obolibrary.org/obo/DOID_10351 obsolete mammary duct ectasia http://purl.obolibrary.org/obo/DOID_0070683 congenital hydrocephalus 2 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the MPDZ gene on chromosome 9p23. http://purl.obolibrary.org/obo/UBERON_0000995 uterus http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/DOID_0070684 congenital hydrocephalus 3 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0070685 congenital hydrocephalus 4 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in heterozygous mutation in the TRIM71 gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_2631 obsolete serous cystadenoma http://purl.obolibrary.org/obo/DOID_10367 obsolete metastatic tumor to the epididymis http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_0070686 X-linked congenital hydrocephalus http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the L1CAM gene on chromosome Xq28. Additional features include stenosis of the aqueduct of Sylvius, adducted thumbs, spastic paraparesis and impaired intellectual development. http://purl.obolibrary.org/obo/DOID_2633 obsolete mucinous cystadenoma http://purl.obolibrary.org/obo/DOID_2635 obsolete mucinous neoplasm http://purl.obolibrary.org/obo/DOID_2642 obsolete lymphangiomyoma http://purl.obolibrary.org/obo/DOID_1038 obsolete mature T-cell neoplasm http://purl.obolibrary.org/obo/DOID_0070687 normal pressure hydrocephalus 1 http://purl.obolibrary.org/obo/DOID_1572 normal pressure hydrocephalus A normal pressure hydrocephalus that has_material_basis_in heterozygous mutation in the CFAP43 gene on chromosome 10q25. http://purl.obolibrary.org/obo/UBERON_0001051 hypopharynx http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_2651 obsolete intraductal papillomatosis http://purl.obolibrary.org/obo/DOID_10380 obsolete precipitate labor http://purl.obolibrary.org/obo/DOID_0070688 autosomal recessive congenital indifference to pain http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy characterized by complete absence of pain perception with no impairment of other sensory, motor, or autonomic modalities that has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. Hyposmia or anosmia is also common. http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_0070689 hereditary sensory and autonomic neuropathy type 2D http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by congenital to pediatric onset of distal loss of pain and temperature sensation and variable autonomic dysfunction that has_material_basis_in homozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. http://purl.obolibrary.org/obo/UBERON_0001479 sesamoid bone http://purl.obolibrary.org/obo/UBERON_0013631 sesamoid element http://purl.obolibrary.org/obo/DOID_0070690 lobodontia http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease characterized by supernumerary cusps and a single pyramid-shaped molar root that has_material_basis_in heterozygous mutation in the ASCL5 gene on chromosome 1q32. Canines and premolars may show a tritubercular structure or prominent cusp tips. http://purl.obolibrary.org/obo/UBERON_0002279 vestibular aqueduct http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/DOID_2654 obsolete serous neoplasm http://purl.obolibrary.org/obo/DOID_10381 obsolete staphylococcal meningitis http://purl.obolibrary.org/obo/DOID_10384 obsolete papilledema associated with decreased ocular pressure http://purl.obolibrary.org/obo/DOID_0070691 craniosynostosis-scoliosis syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by coronal craniosynostosis and thoracolumbar scoliosis, in association with facial dysmorphisms including midface hypoplasia and hypertelorism, and congenital heart disease, mostly atrial septal defect that has_material_basis_in homozygous mutation in the DHRS3 gene on chromosome 1p36, resulting in pathological excess of plasma retinoic acid. http://purl.obolibrary.org/obo/UBERON_0018321 foramen for glossopharyngeal nerve http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/DOID_266 obsolete malignant soft tissue neoplasm of the spleen http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/DOID_1042 obsolete Generalized infection during labor http://purl.obolibrary.org/obo/DOID_0070692 Davis-Wells syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by mild cognitive impairment, dysmorphism featuring oculoauricular abnormalities, and developmental defects involving genitourinary and digestive tracts that has_material_basis_in homozygous or compound heterozygous mutation in the CACHD1 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_2667 obsolete benign mesenchymoma http://purl.obolibrary.org/obo/UBERON_0002027 stratum corneum of epidermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. http://purl.obolibrary.org/obo/DOID_0070693 Ebstein-Bezieau neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder A autosomal dominant intellectual developmental disorder characterized by neurodevelopmental delay, intellectual disability, and varying congenital malformations, most commonly skeletal and cardiac, that has_material_basis_in heterozygous mutation in the PSMC3 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_0070694 neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder A autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, mildly delayed walking and speech acquisition, impaired intellectual development ranging from learning difficulties to severe cognitive impairment, behavioral abnormalities or autistic features, and congenital heart defects that has_material_basis_in heterozygous mutation in the KDM2B gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_2676 obsolete papillary pseudomucinous cystadenoma http://purl.obolibrary.org/obo/UBERON_0001154 vermiform appendix http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_10435 purulent acute otitis media http://purl.obolibrary.org/obo/DOID_11506 suppurative otitis media A suppurative otitis media with sudden onset and a short course. http://purl.obolibrary.org/obo/DOID_0070695 Yu-Kury neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay, speech delay, motor delay, and intellectual disability that has_material_basis_in heterozygous mutation in the PSMC5 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0070696 neurodevelopmental disorder with seizures, hypotonia, and variable spasticity http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with limited or no speech, intellectual disability, ataxia-dystonia, and epilepsy that has_material_basis_in homozygous mutation in the PGBD5 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_2680 obsolete pediatric central nervous system tumor http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000366 flexor muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0003661 limb muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0010890 pelvic complex muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0015001 radius endochondral element http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/DOID_10439 Mooren's ulcer http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema. http://purl.obolibrary.org/obo/DOID_0070697 neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by mild to moderate global developmental delay, mildly to moderately impaired intellectual development, and progressive spasticity of the lower limbs with hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutations in the RPS6KC1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_2681 obsolete nevus http://purl.obolibrary.org/obo/DOID_2699 obsolete sinonasal papilloma http://purl.obolibrary.org/obo/UBERON_0015053 humerus endochondral element http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/UBERON_0015004 tibia endochondral element http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/DOID_10440 mycotic corneal ulcer http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus. http://purl.obolibrary.org/obo/DOID_0070698 X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, hypotonia with delayed walking or inability to walk, severe-to-profound intellectual disability with poor or absent speech, and early-onset epilepsy that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11. Females may be less severely affected than males. http://purl.obolibrary.org/obo/DOID_2724 obsolete port-wine stain http://purl.obolibrary.org/obo/UBERON_0015052 femur endochondral element http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/DOID_10441 marginal corneal ulcer http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus. http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/DOID_0070699 STAD syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a skeletal dysplasia consisting of advanced bone maturation, short and dysplastic bones, and disproportionate body measurements; facial dysmorphisms and dental anomalies; and neurodevelopmental delays ranging in severity from isolated fine motor delays to impaired intellectual development that has_material_basis_in heterozygous mutation in the PTBP1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_2726 obsolete acne nevus http://purl.obolibrary.org/obo/DOID_2728 obsolete Pilosebaceous hamartoma http://purl.obolibrary.org/obo/DOID_2737 obsolete Witkop-Von Sallmann disease http://purl.obolibrary.org/obo/DOID_10444 ring corneal ulcer http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea. http://purl.obolibrary.org/obo/UBERON_0015154 lateral gland of orbital region http://purl.obolibrary.org/obo/UBERON_0015152 gland of ocular region http://purl.obolibrary.org/obo/DOID_0070700 Luo-Agrawal neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by neurodevelopmental delay, hypotonia, dysmorphic features, and growth restriction with or without structural brain abnormalities that has_material_basis_in homozygous mutation in the WSB2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0070701 small fiber neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy that solely or predominantly affects small myelinated A-delta (Aδ) fibers and unmyelinated C fibers resulting in sensory changes, autonomic dysfunction, or both. Common symptoms include burning, sharp and/or deep pain, allodynia, hyperalgesia, thermal and pinprick hypoesthesia, dry mouth, dry eyes, constipation, bladder incontinence, orthostatic dizziness, sexual dysfunction, red or white skin discoloration, or trouble sweating. http://purl.obolibrary.org/obo/DOID_0070702 measles inclusion body encephalitis http://purl.obolibrary.org/obo/DOID_646 viral encephalitis A viral encephalitis that has_material_basis_in measles virus (Morbillivirus hominis) and occurs in immunocompromised patients with acute onset of progressive seizures days to months after infection or vaccination with the live-attenuated vaccine, resulting near universally in death. http://purl.obolibrary.org/obo/DOID_0070703 Meckel syndrome 14 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TXNDC15 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0081462 Zeitz-Han retinal dystrophy http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration A retinal degeneration that is characterized by a variable retinal phenotypes, predominantly described as rod-cone dystrophy with some patients clinically diagnosed as having retinitis pigmentosa, but also including cases of cone-rod and cone dystrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the ubiquitin-associated protein (UBAP1L) gene on chromosome 15q22. http://purl.obolibrary.org/obo/CHEBI_33229 vitamin (role) http://purl.obolibrary.org/obo/CHEBI_33284 nutrient A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/DOID_2753 obsolete nervous system lysosomal storage disease http://purl.obolibrary.org/obo/DOID_10445 perforated corneal ulcer http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment. http://purl.obolibrary.org/obo/CHEBI_164200 triclosan http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor An aromatic ether that is phenol which is substituted at C-5 by a chloro group and at C-2 by a 2,4-dichlorophenoxy group. It is widely used as a preservative and antimicrobial agent in personal care products such as soaps, skin creams, toothpaste and deodorants as well as in household items such as plastic chopping boards, sports equipment and shoes. http://purl.obolibrary.org/obo/DOID_2756 obsolete paratuberculosis http://purl.obolibrary.org/obo/UBERON_0002405 immune system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/DOID_10456 tonsillitis http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/CHEBI_26092 phthalate http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor An endocrine disruptor that is phthalate, used to make plastics more flexible, they are also found in some food packaging, cosmetics, children’s toys, and medical devices. A family of benzene derivatives that are formed by esterification of phthalic acid. Phthalates are added to increase the flexibility and softness of commercial plastics, which are incorporated into a wide variety of consumer goods. Ingested phthalates may exhibit estrogenic or antiandrogenic effects or they may act as endocrine disruptors. http://purl.obolibrary.org/obo/DOID_10457 Legionnaires' disease http://purl.obolibrary.org/obo/DOID_10458 legionellosis A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. http://purl.obolibrary.org/obo/DOID_2757 obsolete Mycobacterium infectious disease http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/CHEBI_46661 asbestos http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements. http://purl.obolibrary.org/obo/DOID_10458 legionellosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. http://purl.obolibrary.org/obo/DOID_2770 obsolete diaper rash http://purl.obolibrary.org/obo/UBERON_0002257 ventral horn of spinal cord http://purl.obolibrary.org/obo/UBERON_0016550 spinal cord column http://purl.obolibrary.org/obo/CHEBI_53218 diphenylmethane-4,4'-diisocyanate http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A diisocyanate consisting of diphenylmethane with two isocyanate groups at the 4- and 4'-positions. http://purl.obolibrary.org/obo/HP_0011460 Embryonal onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). http://purl.obolibrary.org/obo/DOID_10459 common cold http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. http://purl.obolibrary.org/obo/DOID_2771 obsolete atopic dermatitis and related conditions http://purl.obolibrary.org/obo/UBERON_0004084 genital labium http://purl.obolibrary.org/obo/UBERON_8480029 skin of external genitalia http://purl.obolibrary.org/obo/HP_0011461 Fetal onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). http://purl.obolibrary.org/obo/DOID_10460 nasopharyngitis http://purl.obolibrary.org/obo/DOID_9561 nasopharyngeal disease A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. http://purl.obolibrary.org/obo/DOID_2777 obsolete malignant neoplasm of short bones of upper limb http://purl.obolibrary.org/obo/DOID_2778 obsolete tumors of body of uterus, with delivery http://purl.obolibrary.org/obo/DOID_2779 obsolete tumors of body of uterus complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/UBERON_0007100 primary circulatory organ http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/HP_0011462 Young adult onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset of disease at the age of between 16 and 40 years. http://purl.obolibrary.org/obo/DOID_10481 diaphragm disease http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A muscular disease that is located_in the diaphragm. http://purl.obolibrary.org/obo/DOID_280 obsolete ear tuberculosis http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/HP_0011463 Childhood onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of disease at the age of between 1 and 5 years. http://purl.obolibrary.org/obo/DOID_10487 Hirschsprung's disease http://purl.obolibrary.org/obo/DOID_11372 megacolon A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. http://purl.obolibrary.org/obo/DOID_2809 obsolete primary Bartonellaceae infectious disease http://purl.obolibrary.org/obo/UBERON_0001872 parietal lobe http://purl.obolibrary.org/obo/UBERON_0016526 lobe of cerebral hemisphere http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission http://purl.obolibrary.org/obo/TRANS_0000000 transmission process Direct transmission is a transmission process that is the means during which the pathogen is transmitted immediately from a reservoir, source or host to another host. http://purl.obolibrary.org/obo/TRANS_0000002 indirect transmission http://purl.obolibrary.org/obo/TRANS_0000000 transmission process Indirect transmission is a transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by intermediary vehicles, vectors or as airborne dust particles. http://purl.obolibrary.org/obo/DOID_10507 Dressler's syndrome http://purl.obolibrary.org/obo/DOID_1787 pericarditis A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. http://purl.obolibrary.org/obo/DOID_283 obsolete leukemic reticuloendotheliosis of intra-abdominal lymph nodes http://purl.obolibrary.org/obo/UBERON_0016525 frontal lobe http://purl.obolibrary.org/obo/UBERON_0016526 lobe of cerebral hemisphere http://purl.obolibrary.org/obo/UBERON_0004885 hilum http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0005340 dorsal telencephalic commissure http://purl.obolibrary.org/obo/UBERON_0019294 commissure of telencephalon http://purl.obolibrary.org/obo/UBERON_0022276 splenic flexure of colon http://purl.obolibrary.org/obo/UBERON_0022275 colic flexure http://purl.obolibrary.org/obo/UBERON_0016548 central nervous system gray matter layer http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/TRANS_0000006 congenital transmission http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission Congenital transmission is a direct transmission process during which the pathogen is transmitted directly from mother to child at or around the time of birth. http://purl.obolibrary.org/obo/DOID_10516 malignant otitis externa http://purl.obolibrary.org/obo/DOID_9463 otitis externa An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. http://purl.obolibrary.org/obo/DOID_284 obsolete malignant neoplasm of abdomen http://purl.obolibrary.org/obo/DOID_10518 beach ear http://purl.obolibrary.org/obo/DOID_9463 otitis externa An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. http://purl.obolibrary.org/obo/DOID_2848 obsolete melancholia http://purl.obolibrary.org/obo/DOID_10519 chronic fungal otitis externa http://purl.obolibrary.org/obo/DOID_1564 fungal infectious disease A otomycosis which is persistent and long-lasting or recurrent. http://purl.obolibrary.org/obo/DOID_2853 obsolete atrophy of thyroid http://purl.obolibrary.org/obo/DOID_10520 acute infection of pinna http://purl.obolibrary.org/obo/DOID_9463 otitis externa An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. http://purl.obolibrary.org/obo/UBERON_0001366 parietal peritoneum http://purl.obolibrary.org/obo/UBERON_0022351 parietal serous membrane http://purl.obolibrary.org/obo/TRANS_0000007 contact transmission http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission Contact transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by kissing, skin-to-skin contact, sexual intercourse, or by contact with soil or vegetation containing the pathogen. http://purl.obolibrary.org/obo/DOID_2857 obsolete abscess of thyroid http://purl.obolibrary.org/obo/DOID_10525 double pterygium http://purl.obolibrary.org/obo/DOID_0002116 pterygium A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula. http://purl.obolibrary.org/obo/UBERON_0004529 anatomical projection http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/TRANS_0000008 droplet spread transmission http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission Droplet spread transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by spray of aerosols over a short distance, spray from sneezing, coughing or talking. http://purl.obolibrary.org/obo/DOID_287 obsolete vision disorder http://purl.obolibrary.org/obo/DOID_10526 conjunctival pterygium http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula. http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/TRANS_0000012 vehicle-borne ingestion transmission http://purl.obolibrary.org/obo/TRANS_0000010 vehicle-borne transmission Vehicle-borne ingestion transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by ingestion of fluids or foods or food products including: food, water, milk, or meat products. http://purl.obolibrary.org/obo/DOID_2873 obsolete metastatic tumor to the larynx http://purl.obolibrary.org/obo/DOID_10533 viral pneumonia http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. http://purl.obolibrary.org/obo/UBERON_0001756 middle ear http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/SYMP_0000162 tremor http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Tremor is a generial symptom characterized by a trembling or shaking usually from physical weakness, emotional stress, or disease. http://purl.obolibrary.org/obo/DOID_2874 obsolete metastasis to the neck http://purl.obolibrary.org/obo/DOID_10534 stomach cancer http://purl.obolibrary.org/obo/DOID_76 stomach disease A gastrointestinal system cancer that is located_in the stomach. http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/SYMP_0000568 short stature http://purl.obolibrary.org/obo/SYMP_0000464 lack of expected normal physiological development in childhood A lack of expected normal physiological development in childhood that is characterized by an individual's height being in the 3rd percentile for the mean height of a given age, sex, and population group. http://purl.obolibrary.org/obo/DOID_2878 obsolete throat carcinoma http://purl.obolibrary.org/obo/DOID_10538 gastric fundus cancer http://purl.obolibrary.org/obo/DOID_10534 stomach cancer A stomach cancer that is located_in the gastric fundus. http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/SYMP_0000306 inability to feed http://purl.obolibrary.org/obo/SYMP_0000522 feeding difficulties and mismanagement A feeding difficulties and mismanagement that is characterized by a lack of feeding capacity. http://purl.obolibrary.org/obo/SYMP_0000594 abnormal involuntary movement http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by an inability to control bodily movement and may be a symptom of cerebrovascular diseases, dyskinesia, tremor, chorea, dystonia and myoclonus. http://purl.obolibrary.org/obo/DOID_2882 obsolete Cysts of iris, ciliary body and anterior chamber http://purl.obolibrary.org/obo/DOID_10548 cardia cancer http://purl.obolibrary.org/obo/DOID_10534 stomach cancer A cancer located_in the gastric cardia. http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/NCIT_C79660 Pollen http://purl.obolibrary.org/obo/CHEBI_50904 allergen The male genetic material of a seed plant contained in the anther, usually appearing as fine grains or dust. http://purl.obolibrary.org/obo/DOID_2890 obsolete primary Klebsiella infectious disease http://purl.obolibrary.org/obo/DOID_10550 acute eustachian salpingitis http://purl.obolibrary.org/obo/DOID_2000 otosalpingitis A otosalpingitis with a sudden onset and a short course. http://purl.obolibrary.org/obo/UBERON_0010009 aggregate regional part of brain http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/DOID_0080210 primary mediastinal B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. http://purl.obolibrary.org/obo/DOID_2898 obsolete commensal streptococcal infectious disease http://purl.obolibrary.org/obo/DOID_10554 meningoencephalitis http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that involves encephalitis which occurs along with meningitis. http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/DOID_0080211 nodal marginal zone lymphoma http://purl.obolibrary.org/obo/DOID_0050748 marginal zone lymphoma A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. http://purl.obolibrary.org/obo/DOID_2905 obsolete commensal Escherichia coli infectious disease http://purl.obolibrary.org/obo/DOID_10556 supine hypotensive syndrome http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. http://purl.obolibrary.org/obo/UBERON_0010164 collection of hairs http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/DOID_0080212 polycystic kidney disease 4 http://purl.obolibrary.org/obo/DOID_0110861 autosomal recessive polycystic kidney disease A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. http://purl.obolibrary.org/obo/DOID_2910 obsolete septic abortion http://purl.obolibrary.org/obo/DOID_1056 oculocerebrorenal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. http://purl.obolibrary.org/obo/UBERON_0000341 throat http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/DOID_0080213 punctate palmoplantar keratoderma type II http://purl.obolibrary.org/obo/DOID_0060361 punctate palmoplantar keratoderma A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits. http://purl.obolibrary.org/obo/DOID_2956 obsolete intra-abdominal lymphangioma http://purl.obolibrary.org/obo/DOID_10567 late yaws http://purl.obolibrary.org/obo/DOID_10371 yaws A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. http://purl.obolibrary.org/obo/UBERON_0019243 skin crease http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/NCBITaxon_59201 Salmonella enterica subsp. enterica http://purl.obolibrary.org/obo/NCBITaxon_28901 Salmonella enterica http://purl.obolibrary.org/obo/NCBITaxon_28901 Salmonella enterica http://purl.obolibrary.org/obo/NCBITaxon_590 Salmonella http://purl.obolibrary.org/obo/DOID_0080214 punctate palmoplantar keratoderma type I http://purl.obolibrary.org/obo/DOID_0060361 punctate palmoplantar keratoderma A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. http://purl.obolibrary.org/obo/DOID_2958 obsolete environmental illness http://purl.obolibrary.org/obo/DOID_2974 obsolete multicystic dysplastic kidney http://purl.obolibrary.org/obo/DOID_10568 early yaws http://purl.obolibrary.org/obo/DOID_10371 yaws A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/SO_0001260 sequence_collection http://purl.obolibrary.org/obo/DOID_0080215 developmental and epileptic encephalopathy 8 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. http://purl.obolibrary.org/obo/DOID_2976 obsolete glomerular vascular disorder http://purl.obolibrary.org/obo/DOID_10573 osteomalacia http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0080216 duodenal atresia http://purl.obolibrary.org/obo/DOID_10486 intestinal atresia An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum. http://purl.obolibrary.org/obo/DOID_2980 obsolete bone marrow tansplantation nephropathy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration A cerebral degeneration characterized by dysfunction of the white matter of the brain. http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0080217 lysosomal acid lipase deficiency http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. http://purl.obolibrary.org/obo/DOID_2985 obsolete chronic rejection of renal transplant http://purl.obolibrary.org/obo/DOID_10581 metachromatic leukodystrophy http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0080218 primary spontaneous pneumothorax http://purl.obolibrary.org/obo/DOID_1673 pneumothorax A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung. http://purl.obolibrary.org/obo/DOID_0080219 dystransthyretinemic hyperthyroxinemia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0080222 pseudohypoparathyroidism type 1B http://purl.obolibrary.org/obo/DOID_4184 pseudohypoparathyroidism A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS. http://purl.obolibrary.org/obo/DOID_2989 obsolete Atypical small acinar proliferation of the prostate gland http://purl.obolibrary.org/obo/DOID_10582 Refsum disease http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. http://purl.obolibrary.org/obo/SYMP_0000461 abdominal symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0080223 epidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_3390 palmoplantar keratosis A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. http://purl.obolibrary.org/obo/DOID_2990 obsolete tumor of specialized prostatic stroma http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. http://purl.obolibrary.org/obo/SYMP_0000473 nutrition, metabolism, and development symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0080224 autosomal dominant dystrophic epidermolysis bullosa http://purl.obolibrary.org/obo/DOID_4959 epidermolysis bullosa dystrophica An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. http://purl.obolibrary.org/obo/DOID_2991 obsolete stromal neoplasm http://purl.obolibrary.org/obo/DOID_10588 adrenoleukodystrophy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0080225 amyotrophic lateral sclerosis type 23 http://purl.obolibrary.org/obo/DOID_332 amyotrophic lateral sclerosis An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0080226 autosomal dominant intellectual developmental disorder 56 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_2995 obsolete ovarian mixed germ cell-sex cord neoplasm http://purl.obolibrary.org/obo/DOID_1059 intellectual disability http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0080227 autosomal dominant intellectual developmental disorder 55 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_3015 obsolete breast papillary neoplasm http://purl.obolibrary.org/obo/DOID_10590 mild pre-eclampsia http://purl.obolibrary.org/obo/DOID_10591 pre-eclampsia A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0080228 autosomal dominant intellectual developmental disorder 53 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_3019 obsolete postpartum acute renal failure http://purl.obolibrary.org/obo/DOID_10591 pre-eclampsia http://purl.obolibrary.org/obo/DOID_10763 hypertension A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. http://purl.obolibrary.org/obo/SYMP_0000597 head and neck symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0080230 autosomal dominant intellectual developmental disorder 54 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. http://purl.obolibrary.org/obo/DOID_3020 obsolete Complication of labor and/or delivery http://purl.obolibrary.org/obo/DOID_10595 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/DOID_440 neuromuscular disease A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0080231 autosomal dominant intellectual developmental disorder 52 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_3022 obsolete complication of the puerperium http://purl.obolibrary.org/obo/DOID_106 pleural tuberculosis http://purl.obolibrary.org/obo/DOID_1532 pleural disease An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_0080232 autosomal dominant intellectual developmental disorder 51 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0080233 autosomal dominant intellectual developmental disorder 50 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. http://purl.obolibrary.org/obo/DOID_3026 obsolete metastatic prostatic adenocarcinoma http://purl.obolibrary.org/obo/DOID_1060 Hartnup disease http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_0080234 Clark-Baraitser syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_3027 obsolete metastatic adenocarcinoma http://purl.obolibrary.org/obo/DOID_3028 obsolete intramucosal adenocarcinoma colon adenoma http://purl.obolibrary.org/obo/DOID_306 obsolete dyskinetic syndrome http://purl.obolibrary.org/obo/DOID_3067 obsolete taste disorder http://purl.obolibrary.org/obo/DOID_3072 obsolete secondary glioblastoma multiforme http://purl.obolibrary.org/obo/DOID_10600 chronic tic disorder http://purl.obolibrary.org/obo/DOID_2769 tic disorder A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. http://purl.obolibrary.org/obo/DOID_10604 lactose intolerance http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose. http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_0080235 autosomal dominant intellectual developmental disorder 48 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_3077 obsolete anaplastic childhood astrocytoma http://purl.obolibrary.org/obo/DOID_3090 obsolete testicular non-neoplastic disease http://purl.obolibrary.org/obo/DOID_3092 obsolete opportunistic Moraxellaceae infectious disease http://purl.obolibrary.org/obo/DOID_10605 short bowel syndrome http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine. http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_0080236 autosomal dominant intellectual developmental disorder 45 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_3094 obsolete neuroepithelial neoplasm http://purl.obolibrary.org/obo/DOID_10606 blind loop syndrome http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. http://purl.obolibrary.org/obo/GENO_0000938 incomplete X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/DOID_0080237 autosomal dominant intellectual developmental disorder 46 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_0080238 autosomal dominant intellectual developmental disorder 47 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. http://purl.obolibrary.org/obo/DOID_3097 obsolete stenosis and insufficiency of lacrimal passage http://purl.obolibrary.org/obo/GENO_0000939 co-dominant X-linked inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/DOID_10608 celiac disease http://purl.obolibrary.org/obo/DOID_0060031 autoimmune disease of gastrointestinal tract An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. http://purl.obolibrary.org/obo/DOID_0080239 autosomal recessive intellectual developmental disorder 61 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_3100 obsolete Ureaplasma urealyticum urethritis http://purl.obolibrary.org/obo/GENO_0000937 complete X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/DOID_10609 rickets http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. http://purl.obolibrary.org/obo/DOID_0080240 non-syndromic X-linked intellectual disability 106 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0080241 syndromic X-linked mental retardation 35 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_3101 obsolete primary Mycoplasmatales infectious disease http://purl.obolibrary.org/obo/DOID_10612 allergic urticaria http://purl.obolibrary.org/obo/DOID_1555 urticaria An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction. http://purl.obolibrary.org/obo/GENO_0000143 co-dominant autosomal inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/DOID_0080242 syndromic X-linked mental retardation Hough type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_3102 obsolete cervical rib syndrome http://purl.obolibrary.org/obo/DOID_10615 acute gonococcal cervicitis http://purl.obolibrary.org/obo/DOID_10616 acute cervicitis An acute cervicitis that is caused by gonorrhea. http://purl.obolibrary.org/obo/GENO_0000144 complete autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000145 incomplete autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/DOID_0080243 amelogenesis imperfecta type 3B http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. http://purl.obolibrary.org/obo/DOID_3115 obsolete urinary tract transitional cell cancer http://purl.obolibrary.org/obo/DOID_10616 acute cervicitis http://purl.obolibrary.org/obo/DOID_2568 cervicitis A cervicitis that is characterized by onset within the past 1 - 3 days. http://purl.obolibrary.org/obo/GENO_0000952 sex-limited autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/DOID_0080244 Galloway-Mowat syndrome 2 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_313 obsolete synovitis and tenosynovitis http://purl.obolibrary.org/obo/DOID_10619 lymph node cancer http://purl.obolibrary.org/obo/DOID_9942 lymph node disease A lymphatic system cancer that is located_in the lymph node. http://purl.obolibrary.org/obo/GENO_0000953 sex-limited autosomal recessive inheritance http://purl.obolibrary.org/obo/GENO_0000148 autosomal recessive inheritance http://purl.obolibrary.org/obo/DOID_0080245 Galloway-Mowat syndrome 3 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_3137 obsolete multiple symmetrical lipomatosis http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. http://purl.obolibrary.org/obo/SO_0001745 maternal_uniparental_disomy http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/DOID_0080246 Galloway-Mowat syndrome 4 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_3143 obsolete eczematous skin disease http://purl.obolibrary.org/obo/DOID_10629 microphthalmia http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease where one or both eyeballs are abnormally small. http://purl.obolibrary.org/obo/SO_0001746 paternal_uniparental_disomy http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/SO_0000199 translocation http://purl.obolibrary.org/obo/SO_0001785 structural_alteration http://purl.obolibrary.org/obo/DOID_0080247 Galloway-Mowat syndrome 5 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_3157 obsolete congenital melanocytic nevus http://purl.obolibrary.org/obo/DOID_10632 Wolfram syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. http://purl.obolibrary.org/obo/HP_0012758 Neurodevelopmental delay http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/DOID_0080248 erythrokeratodermia variabilis et progressiva 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_3164 obsolete Hair nevus http://purl.obolibrary.org/obo/DOID_1064 cystinosis http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. http://purl.obolibrary.org/obo/DOID_3166 obsolete leukemoid reaction http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/DOID_0080249 erythrokeratodermia variabilis et progressiva 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_10646 schizotypal personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. http://purl.obolibrary.org/obo/DOID_3169 obsolete papillary epithelial neoplasm http://purl.obolibrary.org/obo/DOID_3171 obsolete respiratory tract papilloma http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/DOID_0080250 erythrokeratodermia variabilis et progressiva 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0080251 erythrokeratodermia variabilis et progressiva 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_10652 Alzheimer's disease http://purl.obolibrary.org/obo/DOID_680 tauopathy A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. http://purl.obolibrary.org/obo/DOID_3208 obsolete sensation disorder http://purl.obolibrary.org/obo/HP_0025033 Abnormal digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/DOID_3212 obsolete hereditary central nervous system demyelinating disease http://purl.obolibrary.org/obo/DOID_3217 obsolete small intestinal delta cell somatostatin producing tumor http://purl.obolibrary.org/obo/DOID_0080252 spastic ataxia 8 http://purl.obolibrary.org/obo/DOID_0050952 spastic ataxia A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_10660 mediastinum neuroblastoma http://purl.obolibrary.org/obo/DOID_4691 malignant mediastinal neurogenic neoplasm A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. http://purl.obolibrary.org/obo/DOID_1067 open-angle glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. http://purl.obolibrary.org/obo/DOID_1068 juvenile glaucoma http://purl.obolibrary.org/obo/DOID_1070 primary open angle glaucoma A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures. http://purl.obolibrary.org/obo/DOID_10685 separation anxiety disorder http://purl.obolibrary.org/obo/DOID_2030 anxiety disorder An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. http://purl.obolibrary.org/obo/HP_0000975 Hyperhidrosis http://purl.obolibrary.org/obo/HP_0025276 Abnormality of skin adnexa physiology http://purl.obolibrary.org/obo/DOID_3231 obsolete occupational disease http://purl.obolibrary.org/obo/DOID_3239 obsolete pigmented spindle cell nevus http://purl.obolibrary.org/obo/DOID_0080253 Meckel syndrome 13 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality and that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_10686 lactocele http://purl.obolibrary.org/obo/DOID_10350 breast cyst A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands. http://purl.obolibrary.org/obo/HP_0010468 Aplasia/Hypoplasia of the testes http://purl.obolibrary.org/obo/HP_0045058 Abnormality of the testis size http://purl.obolibrary.org/obo/DOID_3256 obsolete embryonal childhood rhabdomyosarcoma http://purl.obolibrary.org/obo/DOID_0080254 orofaciodigital syndrome XVI http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_10688 hypertrophy of breast http://purl.obolibrary.org/obo/DOID_3463 breast disease A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue. http://purl.obolibrary.org/obo/HP_0032120 Abnormal peripheral nervous system physiology http://purl.obolibrary.org/obo/HP_0410008 Abnormality of the peripheral nervous system http://purl.obolibrary.org/obo/DOID_3257 obsolete pediatric rhabdomyosarcoma http://purl.obolibrary.org/obo/DOID_3276 obsolete thymus epithelial cancer http://purl.obolibrary.org/obo/DOID_0080255 Meier-Gorlin syndrome 8 http://purl.obolibrary.org/obo/DOID_0060306 Meier-Gorlin syndrome A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_10690 mastitis http://purl.obolibrary.org/obo/DOID_3463 breast disease A breast disease characterized by painful infection of the breast tissue. http://purl.obolibrary.org/obo/SO_0000055 hyperploid http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/DOID_3299 obsolete Yersinia pseudotuberculosis infectious disease http://purl.obolibrary.org/obo/DOID_3300 obsolete Yersinia infectious disease http://purl.obolibrary.org/obo/DOID_333 obsolete chronic factitious illness with physical symptoms http://purl.obolibrary.org/obo/DOID_3340 obsolete lymphangioendothelioma http://purl.obolibrary.org/obo/DOID_3349 obsolete osteogenic neoplasm http://purl.obolibrary.org/obo/DOID_3359 obsolete malignant extraskeletal cartilaginous and osseous tumor http://purl.obolibrary.org/obo/DOID_336 obsolete non-traumatic tendon rupture http://purl.obolibrary.org/obo/DOID_3365 obsolete recurrent osteosarcoma http://purl.obolibrary.org/obo/DOID_3378 obsolete conventional central osteosarcoma http://purl.obolibrary.org/obo/DOID_3384 obsolete metastatic osteosarcoma http://purl.obolibrary.org/obo/DOID_3402 obsolete ectopic hormone secretion syndrome associated with neoplasia http://purl.obolibrary.org/obo/DOID_0080256 Perrault syndrome 6 http://purl.obolibrary.org/obo/DOID_0050857 Perrault syndrome A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_10691 fat necrosis of breast http://purl.obolibrary.org/obo/DOID_3463 breast disease A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury. http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/DOID_3403 obsolete hypergammaglobulinemia http://purl.obolibrary.org/obo/DOID_0080257 autosomal recessive congenital ichthyosis 13 http://purl.obolibrary.org/obo/DOID_0060655 autosomal recessive congenital ichthyosis An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0080258 autosomal recessive congenital ichthyosis 14 http://purl.obolibrary.org/obo/DOID_0060655 autosomal recessive congenital ichthyosis An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080259 autosomal recessive spinocerebellar ataxia 25 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_10699 paragonimiasis http://purl.obolibrary.org/obo/DOID_936 brain disease A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. http://purl.obolibrary.org/obo/DOID_1070 primary open angle glaucoma http://purl.obolibrary.org/obo/DOID_1067 open-angle glaucoma An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/DOID_3404 obsolete benign monoclonal gammopathy http://purl.obolibrary.org/obo/DOID_0080260 autosomal recessive spinocerebellar ataxia 26 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_10718 giardiasis http://purl.obolibrary.org/obo/DOID_2789 parasitic protozoa infectious disease A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia duodenalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/DOID_3414 obsolete mannosidase deficiency disease http://purl.obolibrary.org/obo/DOID_3420 obsolete neoplasm of visual pathway http://purl.obolibrary.org/obo/DOID_0080261 autosomal recessive nonsyndromic deafness 106 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0080262 autosomal recessive nonsyndromic deafness 107 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0080263 autosomal recessive nonsyndromic deafness 108 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_1074 kidney failure http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/SO_0002219 functionally_normal http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_3461 obsolete breast hamartoma http://purl.obolibrary.org/obo/DOID_0080264 exudative vitreoretinopathy 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1. http://purl.obolibrary.org/obo/DOID_0080265 RENI syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. http://purl.obolibrary.org/obo/DOID_10744 broad ligament malignant neoplasm http://purl.obolibrary.org/obo/DOID_11747 uterine adnexa cancer A uterine adnexa cancer that is located_in the broad ligament. http://purl.obolibrary.org/obo/SO_0002220 function_uncertain_variant http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_3464 obsolete hamartoma of skin appendage http://purl.obolibrary.org/obo/DOID_0080266 primary ciliary dyskinesia 37 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_10754 otitis media http://purl.obolibrary.org/obo/DOID_5100 middle ear disease A otitis which involves inflammation of the middle ear. http://purl.obolibrary.org/obo/DOID_10755 petrositis http://purl.obolibrary.org/obo/DOID_1019 osteomyelitis An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. http://purl.obolibrary.org/obo/SO_0002318 altered_gene_product_sequence http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_3465 obsolete congenital nevus of skin http://purl.obolibrary.org/obo/DOID_0080267 autosomal dominant nonsyndromic deafness 71 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0080268 autosomal dominant nonsyndromic deafness 72 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_10763 hypertension http://purl.obolibrary.org/obo/DOID_0050828 artery disease An artery disease characterized by chronic elevated blood pressure in the arteries. http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/DOID_3466 obsolete cartilaginous hamartoma http://purl.obolibrary.org/obo/DOID_0080269 autosomal dominant nonsyndromic deafness 73 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. http://purl.obolibrary.org/obo/DOID_0080270 autosomal dominant nonsyndromic deafness 34 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. http://purl.obolibrary.org/obo/DOID_10773 bubonic plague http://purl.obolibrary.org/obo/DOID_9942 lymph node disease A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. http://purl.obolibrary.org/obo/DOID_10779 septic myocarditis http://purl.obolibrary.org/obo/DOID_3951 acute myocarditis An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation. http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_3467 obsolete mesenchymal hamartoma http://purl.obolibrary.org/obo/DOID_0080271 nephrotic syndrome type 15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia http://purl.obolibrary.org/obo/DOID_8432 polycythemia A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_3470 obsolete hamartoma of central nervous system http://purl.obolibrary.org/obo/DOID_3472 obsolete hamartoma of lung http://purl.obolibrary.org/obo/DOID_3473 obsolete brain hamartoma http://purl.obolibrary.org/obo/DOID_0080272 nephrotic syndrome type 16 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_10784 Queensland tick typhus http://purl.obolibrary.org/obo/DOID_11104 spotted fever A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_3476 obsolete Lipomatous hamartoma http://purl.obolibrary.org/obo/DOID_0080273 polycystic kidney disease 5 http://purl.obolibrary.org/obo/DOID_0110861 autosomal recessive polycystic kidney disease A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22. http://purl.obolibrary.org/obo/DOID_0080274 multiple mitochondrial dysfunctions syndrome 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_10787 premature menopause http://purl.obolibrary.org/obo/DOID_1414 ovarian dysfunction An ovarian dysfunction that is the loss of normal ovarian function before age 40. http://purl.obolibrary.org/obo/DOID_1079 setariasis http://purl.obolibrary.org/obo/DOID_1080 filariasis A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_3487 obsolete metabolic skin disease http://purl.obolibrary.org/obo/DOID_0080275 Joubert syndrome 30 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_10790 chronic frontal sinusitis http://purl.obolibrary.org/obo/DOID_10791 frontal sinusitis A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_3519 obsolete non-metastatic fibrosarcoma http://purl.obolibrary.org/obo/DOID_0080276 Joubert syndrome 29 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_10791 frontal sinusitis http://purl.obolibrary.org/obo/DOID_0050127 sinusitis A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/DOID_3546 obsolete somatosensory disorder http://purl.obolibrary.org/obo/DOID_356 obsolete intrathoracic lymph node mast cell malignancy http://purl.obolibrary.org/obo/DOID_0080277 Joubert syndrome 31 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. http://purl.obolibrary.org/obo/DOID_10792 chronic maxillary sinusitis http://purl.obolibrary.org/obo/DOID_2051 maxillary sinusitis A maxillary sinusitis which lasts for 12 weeks or more. http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/DOID_357 obsolete upper limb lymph node mast cell malignancy http://purl.obolibrary.org/obo/DOID_3580 obsolete testicular mixed germ cell-sex cord-stromal neoplasm http://purl.obolibrary.org/obo/DOID_3583 obsolete enterotoxemia http://purl.obolibrary.org/obo/DOID_3584 obsolete commensal Clostridium infectious disease http://purl.obolibrary.org/obo/DOID_3586 obsolete Puerperal pyrexia of unknown origin http://purl.obolibrary.org/obo/DOID_0080278 Joubert syndrome 32 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_10793 chronic sphenoidal sinusitis http://purl.obolibrary.org/obo/DOID_10794 sphenoid sinusitis A sphenoid sinusitis which lasts for 12 weeks or more. http://purl.obolibrary.org/obo/SO_0001549 transcription_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/DOID_3589 obsolete Poor Prognosis metastatic Gestational Trophoblastic tumor http://purl.obolibrary.org/obo/DOID_0080279 Joubert syndrome 33 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. http://purl.obolibrary.org/obo/DOID_10794 sphenoid sinusitis http://purl.obolibrary.org/obo/DOID_0050127 sinusitis A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/DOID_3591 obsolete Nonmetastatic Gestational Trophoblastic tumor http://purl.obolibrary.org/obo/DOID_3597 obsolete Good Prognosis metastatic Gestational Trophoblastic tumor http://purl.obolibrary.org/obo/DOID_0080280 gingival fibromatosis 5 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12. http://purl.obolibrary.org/obo/DOID_1080 filariasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/DOID_3621 obsolete central nervous system neuroepithelial neoplasm http://purl.obolibrary.org/obo/DOID_0080281 schizophrenia 19 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_1081 mansonelliasis http://purl.obolibrary.org/obo/DOID_37 skin disease A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. http://purl.obolibrary.org/obo/SO_0001602 complex_change_of_translational_product_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/DOID_3636 obsolete commensal Desulfovibrionaceae infectious disease http://purl.obolibrary.org/obo/DOID_0080282 developmental and epileptic encephalopathy 56 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. http://purl.obolibrary.org/obo/DOID_10811 nasal cavity cancer http://purl.obolibrary.org/obo/DOID_2163 nasal cavity disease A respiratory system cancer that is located_in the nasal cavity. http://purl.obolibrary.org/obo/DOID_10816 duodenum adenocarcinoma http://purl.obolibrary.org/obo/DOID_299 adenocarcinoma A duodenum cancer that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/SO_0001541 decreased_transcript_level_variant http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/DOID_364 obsolete spontaneous rupture of bladder http://purl.obolibrary.org/obo/DOID_0080283 developmental and epileptic encephalopathy 55 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_1082 dirofilariasis http://purl.obolibrary.org/obo/DOID_850 lung disease A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. http://purl.obolibrary.org/obo/SO_0001542 increased_transcript_level_variant http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/DOID_3648 obsolete inborn errors pyruvate metabolism http://purl.obolibrary.org/obo/DOID_0080284 developmental and epileptic encephalopathy 57 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_10824 malignant hypertension http://purl.obolibrary.org/obo/DOID_10763 hypertension A hypertension that is characterized by rapid onset of extremely high blood pressure. http://purl.obolibrary.org/obo/SO_0001544 editing_variant http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/DOID_3653 obsolete laboratory infectious disease http://purl.obolibrary.org/obo/DOID_0080285 developmental and epileptic encephalopathy 58 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_10825 essential hypertension http://purl.obolibrary.org/obo/DOID_10763 hypertension A hypertension with no known cause. It is the most common type of hypertension. http://purl.obolibrary.org/obo/DOID_10841 Eastern equine encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus (Alphavirus eastern), which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma. http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/DOID_366 obsolete olfactory nerve neoplasm http://purl.obolibrary.org/obo/DOID_0080286 spinocerebellar ataxia 44 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24. http://purl.obolibrary.org/obo/DOID_0080287 spinocerebellar ataxia 45 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. http://purl.obolibrary.org/obo/DOID_10842 Murray Valley encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus (Orthoflavivirus murrayense), which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. http://purl.obolibrary.org/obo/SO_0001802 increased_polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001803 decreased_polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/DOID_3680 obsolete malignant neoplasm of lip, oral cavity and pharynx http://purl.obolibrary.org/obo/DOID_0080288 spinocerebellar ataxia 46 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_10843 Western equine encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus (Alphavirus western), which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. http://purl.obolibrary.org/obo/SO_0001547 decreased_transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001548 increased_transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/DOID_3686 obsolete Helicobacter pylori infectious disease http://purl.obolibrary.org/obo/DOID_0080289 orofaciodigital syndrome XVII http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. http://purl.obolibrary.org/obo/DOID_10844 Japanese encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus (Orthoflavivirus japonicum), which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/SO_0001549 transcription_variant http://purl.obolibrary.org/obo/DOID_3694 obsolete adnexal mucinous adenocarcinoma http://purl.obolibrary.org/obo/DOID_0080290 familial erythrocytosis 5 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_10845 St. Louis encephalitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus (Orthoflavivirus louisense), which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. http://purl.obolibrary.org/obo/SO_0001551 increased_transcription_rate_variant http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/DOID_1085 Edwards syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. http://purl.obolibrary.org/obo/DOID_10852 middle ear cholesterol granuloma http://purl.obolibrary.org/obo/DOID_10754 otitis media A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease located_in the salivary gland. http://purl.obolibrary.org/obo/DOID_10865 abducens nerve palsy http://purl.obolibrary.org/obo/DOID_3817 cranial nerve palsy A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. http://purl.obolibrary.org/obo/DOID_10871 age related macular degeneration http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. http://purl.obolibrary.org/obo/DOID_1088 meningocele http://purl.obolibrary.org/obo/DOID_0080016 spina bifida A spina bifida that is characterized by herniation of the meninges between the vertebrae. http://purl.obolibrary.org/obo/DOID_3695 obsolete adnexa adenocarcinoma http://purl.obolibrary.org/obo/DOID_3726 obsolete puerperal disease http://purl.obolibrary.org/obo/DOID_0080291 developmental and epileptic encephalopathy 59 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. http://purl.obolibrary.org/obo/SO_0001552 decreased_transcription_rate_variant http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/DOID_10881 hand, foot and mouth disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. http://purl.obolibrary.org/obo/DOID_373 obsolete infant nutrition disorder http://purl.obolibrary.org/obo/DOID_0080292 retinitis pigmentosa 81 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. http://purl.obolibrary.org/obo/SO_0001555 decreased_translational_product_level http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/DOID_10882 epidemic pleurodynia http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in necrosis located in intercostal muscle and has_material_basis_in Human enterovirus B (Enterovirus betacoxsackie). The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache. http://purl.obolibrary.org/obo/DOID_10883 herpangina http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. http://purl.obolibrary.org/obo/DOID_3731 obsolete primary Pasteurellaceae infectious disease http://purl.obolibrary.org/obo/DOID_0080293 short-rib thoracic dysplasia 18 with polydactyly http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. http://purl.obolibrary.org/obo/SO_0001556 increased_translational_product_level http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/DOID_10887 lepromatous leprosy http://purl.obolibrary.org/obo/DOID_1024 leprosy A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. http://purl.obolibrary.org/obo/DOID_3758 obsolete Fusobacterium infectious disease http://purl.obolibrary.org/obo/DOID_0080294 Charcot-Marie-Tooth disease dominant intermediate G http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. http://purl.obolibrary.org/obo/SO_0001557 polypeptide_gain_of_function_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_10892 hypospadias http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. http://purl.obolibrary.org/obo/DOID_10907 microcephaly http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. http://purl.obolibrary.org/obo/DOID_10908 hydrocephalus http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. http://purl.obolibrary.org/obo/DOID_1091 tooth disease http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease located_in the teeth. http://purl.obolibrary.org/obo/DOID_10914 amnestic disorder http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. http://purl.obolibrary.org/obo/DOID_10915 Wernicke-Korsakoff syndrome http://purl.obolibrary.org/obo/DOID_0070313 thiamine deficiency disease A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. http://purl.obolibrary.org/obo/DOID_10921 Siberian tick typhus http://purl.obolibrary.org/obo/DOID_11104 spotted fever A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. http://purl.obolibrary.org/obo/DOID_3773 obsolete third ventricle chordoid glioma http://purl.obolibrary.org/obo/DOID_3810 obsolete chondrogenic neoplasm http://purl.obolibrary.org/obo/DOID_0080295 short-rib thoracic dysplasia 19 with or without polydactyly http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. http://purl.obolibrary.org/obo/SO_0001558 polypeptide_localization_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_10923 sickle cell anemia http://purl.obolibrary.org/obo/DOID_0081445 sickle cell disease A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. http://purl.obolibrary.org/obo/DOID_3812 obsolete mediastinum chondroma http://purl.obolibrary.org/obo/DOID_3820 obsolete primary Chlamydiaceae infectious disease http://purl.obolibrary.org/obo/DOID_0080296 hypomyelinating leukodystrophy 14 http://purl.obolibrary.org/obo/DOID_0060786 hypomyelinating leukodystrophy A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. http://purl.obolibrary.org/obo/DOID_0080297 Coffin-Siris syndrome 6 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_10930 borderline personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. http://purl.obolibrary.org/obo/DOID_3836 obsolete posttransplantation lymphoproliferative disease http://purl.obolibrary.org/obo/DOID_0080298 complete generalized lipodystrophy http://purl.obolibrary.org/obo/DOID_811 lipodystrophy A lipodystrophy that is characterized by complete loss of adipose tissue. http://purl.obolibrary.org/obo/SO_0001562 polypeptide_post_translational_processing_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_10931 dependent personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that is characterized by a pervasive psychological dependence on other people. http://purl.obolibrary.org/obo/DOID_3837 obsolete benign lymphoproliferative disease http://purl.obolibrary.org/obo/DOID_0080299 partial lipodystrophy http://purl.obolibrary.org/obo/DOID_811 lipodystrophy A lipodystrophy that is characterized by partial loss of adipose tissue. http://purl.obolibrary.org/obo/SO_0001560 inactive_ligand_binding_site http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/DOID_10932 obsessive-compulsive personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. http://purl.obolibrary.org/obo/DOID_3838 obsolete skin lymphoproliferative disease http://purl.obolibrary.org/obo/DOID_0080300 acquired generalized lipodystrophy http://purl.obolibrary.org/obo/DOID_0080298 complete generalized lipodystrophy A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. http://purl.obolibrary.org/obo/SO_0001561 polypeptide_partial_loss_of_function http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/DOID_10933 obsessive-compulsive disorder http://purl.obolibrary.org/obo/DOID_2030 anxiety disorder An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). http://purl.obolibrary.org/obo/DOID_3844 obsolete pediatric craniopharyngioma http://purl.obolibrary.org/obo/DOID_0080301 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/DOID_626 complement deficiency A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. http://purl.obolibrary.org/obo/SO_0001618 inactive_catalytic_site http://purl.obolibrary.org/obo/SO_0001560 inactive_ligand_binding_site http://purl.obolibrary.org/obo/DOID_10934 multiple personality disorder http://purl.obolibrary.org/obo/DOID_10935 dissociative disorder A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. http://purl.obolibrary.org/obo/DOID_3845 obsolete childhood intracranial neoplasm http://purl.obolibrary.org/obo/DOID_0080302 mixed sleep apnea http://purl.obolibrary.org/obo/DOID_0050847 sleep apnea A sleep apnea that is characterized by a combination of central and obstructive sleep apnea. http://purl.obolibrary.org/obo/SO_0001911 copy_number_increase http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/DOID_10935 dissociative disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). http://purl.obolibrary.org/obo/DOID_3848 obsolete adult craniopharyngioma http://purl.obolibrary.org/obo/DOID_0080303 mucinous lung adenocarcinoma http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. http://purl.obolibrary.org/obo/SO_0001912 copy_number_decrease http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/DOID_10936 schizoid personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. http://purl.obolibrary.org/obo/DOID_3849 obsolete adult intracranial neoplasm http://purl.obolibrary.org/obo/DOID_0080304 lung mucinous cystadenocarcinoma http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/DOID_10937 impulse control disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. http://purl.obolibrary.org/obo/DOID_3859 obsolete relapsed medulloblastoma http://purl.obolibrary.org/obo/DOID_0080305 signet ring lung adenocarcinoma http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus. http://purl.obolibrary.org/obo/DOID_0080306 solid adenocarcinoma with mucin production http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells. http://purl.obolibrary.org/obo/SO_0001598 translational_product_structure_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/DOID_10938 paranoid personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. http://purl.obolibrary.org/obo/DOID_386 obsolete postpericardiotomy syndrome http://purl.obolibrary.org/obo/DOID_60001 pulmonary artery disease http://purl.obolibrary.org/obo/DOID_850 lung disease An artery disease that is located in the lungs. http://purl.obolibrary.org/obo/SO_0002152 genic_downstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/DOID_10939 antisocial personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. http://purl.obolibrary.org/obo/DOID_3862 obsolete FAP associated medulloblastoma http://purl.obolibrary.org/obo/DOID_0080524 thyroid gland adenocarcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/SO_0002153 genic_upstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/DOID_1094 attention deficit hyperactivity disorder http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. http://purl.obolibrary.org/obo/DOID_3863 obsolete region 17p13 allelic loss associated medulloblastoma http://purl.obolibrary.org/obo/DOID_0080526 bronchiectasis 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12. http://purl.obolibrary.org/obo/SO_0002085 unidirectional_gene_fusion http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease located_in the tongue. http://purl.obolibrary.org/obo/DOID_3866 obsolete desmoplastic medulloblastoma http://purl.obolibrary.org/obo/DOID_3867 obsolete nevoid basal cell carcinoma syndrome associated medulloblastoma http://purl.obolibrary.org/obo/DOID_0080527 bronchiectasis 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. http://purl.obolibrary.org/obo/SO_0002086 bidirectional_gene_fusion http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/SO_0001782 TF_binding_site_variant http://purl.obolibrary.org/obo/SO_0001566 regulatory_region_variant http://purl.obolibrary.org/obo/DOID_10952 nephritis http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by an inflammation of the kidneys. http://purl.obolibrary.org/obo/DOID_3871 obsolete medulloblastoma with leptomeningeal spread http://purl.obolibrary.org/obo/DOID_0080528 bronchiectasis 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel. http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_10955 strongyloidiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. http://purl.obolibrary.org/obo/DOID_3872 obsolete leptomeningeal metastases http://purl.obolibrary.org/obo/DOID_0080530 granular corneal dystrophy 1 http://purl.obolibrary.org/obo/DOID_12318 granular corneal dystrophy A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface. http://purl.obolibrary.org/obo/SO_0001572 exon_loss_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_10965 spastic diplegia http://purl.obolibrary.org/obo/DOID_0050669 spastic cerebral palsy A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. http://purl.obolibrary.org/obo/DOID_3878 obsolete intestinal pseudo-obstruction http://purl.obolibrary.org/obo/DOID_0111180 French Canadian Leigh disease http://purl.obolibrary.org/obo/DOID_3762 cytochrome-c oxidase deficiency disease A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. http://purl.obolibrary.org/obo/SO_0001573 intron_gain_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_10967 spastic hemiplegia http://purl.obolibrary.org/obo/DOID_0050669 spastic cerebral palsy A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side, the arm and leg may not develop normally. http://purl.obolibrary.org/obo/DOID_3881 obsolete Proteus infectious disease http://purl.obolibrary.org/obo/DOID_0111181 familial hemiplegic migraine 1 http://purl.obolibrary.org/obo/DOID_0060178 familial hemiplegic migraine A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/DOID_10968 spastic monoplegia http://purl.obolibrary.org/obo/DOID_0050669 spastic cerebral palsy A spastic cerebral palsy that affects only one limb. http://purl.obolibrary.org/obo/DOID_3898 obsolete skin appendage adenoma http://purl.obolibrary.org/obo/DOID_0111182 familial hemiplegic migraine 2 http://purl.obolibrary.org/obo/DOID_0060178 familial hemiplegic migraine A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/SO_0001995 extended_intronic_splice_region_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/SO_0002169 splice_polypyrimidine_tract_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_10969 hemiplegia http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is characterized by the complete paralysis of half of the body. http://purl.obolibrary.org/obo/DOID_3899 obsolete skin appendage neoplasm http://purl.obolibrary.org/obo/DOID_0111183 familial hemiplegic migraine 3 http://purl.obolibrary.org/obo/DOID_0060178 familial hemiplegic migraine A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3. http://purl.obolibrary.org/obo/DOID_0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 http://purl.obolibrary.org/obo/DOID_0080099 myopathy, lactic acidosis, and sideroblastic anemia A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. http://purl.obolibrary.org/obo/DOID_0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 http://purl.obolibrary.org/obo/DOID_0080099 myopathy, lactic acidosis, and sideroblastic anemia A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. http://purl.obolibrary.org/obo/DOID_0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 http://purl.obolibrary.org/obo/DOID_0080099 myopathy, lactic acidosis, and sideroblastic anemia A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. http://purl.obolibrary.org/obo/DOID_0111187 distal myopathy with anterior tibial onset http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. http://purl.obolibrary.org/obo/SO_0001570 cryptic_splice_acceptor http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/DOID_10970 spastic quadriplegic cerebral palsy http://purl.obolibrary.org/obo/DOID_0050669 spastic cerebral palsy A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking. http://purl.obolibrary.org/obo/DOID_390 obsolete venous problem http://purl.obolibrary.org/obo/DOID_3909 obsolete bronchogenic lung adenocarcinoma http://purl.obolibrary.org/obo/DOID_3914 obsolete serous cystadenoma of ovary http://purl.obolibrary.org/obo/DOID_0111188 myofibrillar myopathy 9 http://purl.obolibrary.org/obo/DOID_0080307 myofibrillar myopathy A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0111189 distal myopathy 3 http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0111190 distal myopathy 4 http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. http://purl.obolibrary.org/obo/SO_0001571 cryptic_splice_donor http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/SO_0002327 splice_acceptor_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/DOID_10974 oophoritis http://purl.obolibrary.org/obo/DOID_1100 ovarian disease An ovarian disease that is characterized by inflammation of the ovary. http://purl.obolibrary.org/obo/DOID_3916 obsolete borderline malignancy serous cystadenoma http://purl.obolibrary.org/obo/DOID_3939 obsolete lipomatous cancer http://purl.obolibrary.org/obo/DOID_0111191 distal myopathy Tateyama type http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0111192 facioscapulohumeral muscular dystrophy 1 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. http://purl.obolibrary.org/obo/SO_0002328 splice_acceptor_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/SO_0002325 splice_donor_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/SO_0002326 splice_donor_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/DOID_1098 hemolytic disease of the fetus http://purl.obolibrary.org/obo/DOID_11252 microcytic anemia A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis. http://purl.obolibrary.org/obo/DOID_3968 obsolete papillary follicular thyroid adenocarcinoma http://purl.obolibrary.org/obo/DOID_3974 obsolete medullary carcinoma http://purl.obolibrary.org/obo/DOID_0111193 facioscapulohumeral muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_10983 Alport syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome disease that is characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. http://purl.obolibrary.org/obo/DOID_398 obsolete cutaneous tuberculosis http://purl.obolibrary.org/obo/DOID_0111194 autosomal dominant adult-onset proximal spinal muscular atrophy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. http://purl.obolibrary.org/obo/SO_0001577 complex_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/SO_0001596 transcript_secondary_structure_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/SO_0001619 non_coding_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/SO_0001621 NMD_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_10986 discitis http://purl.obolibrary.org/obo/DOID_1222 cartilage disease A cartilage disease that is characterized by an infection of the intervertebral disc space. http://purl.obolibrary.org/obo/DOID_3997 obsolete urinary tract infiltrating transitional cell carcinoma http://purl.obolibrary.org/obo/DOID_0111195 erythrokeratodermia variabilis et progressiva 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/SO_0001791 exon_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_1099 alpha thalassemia http://purl.obolibrary.org/obo/DOID_10241 thalassemia A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. http://purl.obolibrary.org/obo/DOID_4009 obsolete renal pelvis and ureter transitional cell cancer http://purl.obolibrary.org/obo/DOID_0111196 X-linked distal spinal muscular atrophy 3 http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/SO_0002011 intragenic_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_10992 acute hemorrhagic leukoencephalitis http://purl.obolibrary.org/obo/DOID_639 acute disseminated encephalomyelitis A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. http://purl.obolibrary.org/obo/DOID_10993 postinfectious encephalitis http://purl.obolibrary.org/obo/DOID_9588 encephalitis An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial infection. http://purl.obolibrary.org/obo/DOID_4010 obsolete renal pelvis and ureter cancer http://purl.obolibrary.org/obo/DOID_4020 obsolete psychomotor disease http://purl.obolibrary.org/obo/DOID_4025 obsolete steatitis http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_10997 immature cataract http://purl.obolibrary.org/obo/DOID_9669 senile cataract A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining. http://purl.obolibrary.org/obo/DOID_4026 obsolete vitamin E deficiency http://purl.obolibrary.org/obo/DOID_0111199 autosomal dominant distal hereditary motor neuronopathy 7 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_110 lens disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye. http://purl.obolibrary.org/obo/SO_0001582 initiator_codon_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/DOID_4027 obsolete fetal distress http://purl.obolibrary.org/obo/DOID_0111200 autosomal dominant distal hereditary motor neuronopathy 1 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. http://purl.obolibrary.org/obo/DOID_1100 ovarian disease http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is located_in the ovary. http://purl.obolibrary.org/obo/SO_0001590 terminator_codon_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/DOID_4039 obsolete Crohn's associated gastritis http://purl.obolibrary.org/obo/DOID_0111202 autosomal dominant distal hereditary motor neuronopathy 14 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. http://purl.obolibrary.org/obo/DOID_11037 dissociative amnesia http://purl.obolibrary.org/obo/DOID_10935 dissociative disorder A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/DOID_4052 obsolete rhabdomyosarcoma recurrent http://purl.obolibrary.org/obo/DOID_4056 obsolete adult rhabdomyosarcoma http://purl.obolibrary.org/obo/DOID_0111203 autosomal dominant distal hereditary motor neuronopathy 5 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. http://purl.obolibrary.org/obo/DOID_11038 depersonalization disorder http://purl.obolibrary.org/obo/DOID_10935 dissociative disorder A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. http://purl.obolibrary.org/obo/DOID_11042 Felty's syndrome http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease An autoimmune disease that results_in rheumatoid arthritis, splenomegaly and neutropenia. http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/DOID_4076 obsolete pleomorphic adenoma of the breast http://purl.obolibrary.org/obo/DOID_0111205 autosomal dominant distal hereditary motor neuronopathy 12 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. http://purl.obolibrary.org/obo/DOID_11049 meconium aspiration syndrome http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery. http://purl.obolibrary.org/obo/SO_0002012 start_lost http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/SO_0002019 start_retained_variant http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/DOID_4077 obsolete metastasizing mixed tumor of salivary gland http://purl.obolibrary.org/obo/DOID_0111206 autosomal dominant distal hereditary motor neuronopathy 2 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0111207 autosomal dominant distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_3996 urinary system cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder. http://purl.obolibrary.org/obo/SO_0001585 conservative_missense_variant http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/SO_0001586 non_conservative_missense_variant http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/SO_0001586 non_conservative_missense_variant http://purl.obolibrary.org/obo/DOID_4099 obsolete metastatic squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_0111209 autosomal dominant distal hereditary motor neuronopathy 4 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. http://purl.obolibrary.org/obo/DOID_11055 pasteurellosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. http://purl.obolibrary.org/obo/SO_0002321 stop_gained_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/DOID_410 obsolete tuberculous ascites http://purl.obolibrary.org/obo/DOID_0111210 autosomal dominant distal hereditary motor neuronopathy 6 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. http://purl.obolibrary.org/obo/DOID_11060 placenta praevia http://purl.obolibrary.org/obo/DOID_780 placenta disease A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. http://purl.obolibrary.org/obo/SO_0002322 stop_gained_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/DOID_4102 obsolete secondary carcinoma http://purl.obolibrary.org/obo/DOID_0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. http://purl.obolibrary.org/obo/DOID_1107 esophageal carcinoma http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/SO_0001591 frame_restoring_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_4106 obsolete commensal Bacteroidaceae infectious disease http://purl.obolibrary.org/obo/DOID_0111212 autosomal dominant distal hereditary motor neuronopathy 9 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. http://purl.obolibrary.org/obo/DOID_11076 Brucella suis brucellosis http://purl.obolibrary.org/obo/DOID_11077 brucellosis A brucellosis that involves an infection caused by Brucella suis in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. http://purl.obolibrary.org/obo/SO_0001592 minus_1_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_4107 obsolete primary Flavobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_411 obsolete bovine tuberculosis http://purl.obolibrary.org/obo/DOID_0111213 autosomal recessive distal hereditary motor neuronopathy 4 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. http://purl.obolibrary.org/obo/DOID_11077 brucellosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. http://purl.obolibrary.org/obo/DOID_0111214 autosomal recessive distal hereditary motor neuronopathy 5 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. http://purl.obolibrary.org/obo/DOID_0111215 autosomal dominant distal hereditary motor neuronopathy 8 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy http://purl.obolibrary.org/obo/DOID_14717 centronuclear myopathy A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_0111217 autosomal dominant centronuclear myopathy http://purl.obolibrary.org/obo/DOID_14717 centronuclear myopathy A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0111218 Friedreich ataxia 1 http://purl.obolibrary.org/obo/DOID_12705 Friedreich ataxia A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. http://purl.obolibrary.org/obo/DOID_0111219 Friedreich ataxia 2 http://purl.obolibrary.org/obo/DOID_12705 Friedreich ataxia A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. http://purl.obolibrary.org/obo/SO_0001593 minus_2_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_412 obsolete atypical Mycobacterium infectious disease http://purl.obolibrary.org/obo/DOID_414 obsolete cardiovascular tuberculosis http://purl.obolibrary.org/obo/DOID_11079 leech infestation http://purl.obolibrary.org/obo/DOID_4110 parasitic ectoparasitic infectious disease A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. http://purl.obolibrary.org/obo/DOID_0111220 centronuclear myopathy 2 http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. http://purl.obolibrary.org/obo/SO_0001594 plus_1_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_4142 obsolete meningioma by site http://purl.obolibrary.org/obo/DOID_11080 myiasis http://purl.obolibrary.org/obo/DOID_4110 parasitic ectoparasitic infectious disease A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. http://purl.obolibrary.org/obo/DOID_11088 asphyxia neonatorum http://purl.obolibrary.org/obo/DOID_1579 respiratory system disease A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain. http://purl.obolibrary.org/obo/DOID_0111221 centronuclear myopathy 6 with fiber-type disproportion http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. http://purl.obolibrary.org/obo/DOID_11100 Q fever http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. http://purl.obolibrary.org/obo/SO_0001595 plus_2_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_4144 obsolete herpes zoster dermatitis http://purl.obolibrary.org/obo/DOID_0111222 centronuclear myopathy 5 http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. http://purl.obolibrary.org/obo/DOID_11101 trench fever http://purl.obolibrary.org/obo/DOID_11102 bartonellosis A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back. http://purl.obolibrary.org/obo/SO_0001909 frameshift_elongation http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/SO_0001910 frameshift_truncation http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/DOID_4161 obsolete relapsed neuroblastoma http://purl.obolibrary.org/obo/DOID_0111223 centronuclear myopathy 1 http://purl.obolibrary.org/obo/DOID_0111217 autosomal dominant centronuclear myopathy An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. http://purl.obolibrary.org/obo/DOID_11102 bartonellosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. http://purl.obolibrary.org/obo/SO_0002323 frameshift_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/DOID_4165 obsolete regional neuroblastoma http://purl.obolibrary.org/obo/DOID_0111224 centronuclear myopathy 4 http://purl.obolibrary.org/obo/DOID_0111217 autosomal dominant centronuclear myopathy An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. http://purl.obolibrary.org/obo/DOID_11103 rickettsialpox http://purl.obolibrary.org/obo/DOID_11104 spotted fever A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. http://purl.obolibrary.org/obo/SO_0002324 frameshift_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/DOID_4170 obsolete localized resectable neuroblastoma http://purl.obolibrary.org/obo/DOID_0111225 centronuclear myopathy X-linked http://purl.obolibrary.org/obo/DOID_14717 centronuclear myopathy A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. http://purl.obolibrary.org/obo/DOID_11104 spotted fever http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. http://purl.obolibrary.org/obo/SO_0001567 stop_retained_variant http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/DOID_4172 obsolete localized unresectable neuroblastoma http://purl.obolibrary.org/obo/DOID_4173 obsolete disseminated neuroblastoma http://purl.obolibrary.org/obo/DOID_0111226 X-linked congenital myopathy with fiber-type disproportion http://purl.obolibrary.org/obo/DOID_0080102 congenital myopathy 4A A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. http://purl.obolibrary.org/obo/DOID_11105 fundus albipunctatus http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. http://purl.obolibrary.org/obo/SO_0001578 stop_lost http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/DOID_4200 obsolete commensal Bifidobacteriales infectious disease http://purl.obolibrary.org/obo/DOID_0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 http://purl.obolibrary.org/obo/DOID_332 amyotrophic lateral sclerosis A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. http://purl.obolibrary.org/obo/DOID_11111 hydronephrosis http://purl.obolibrary.org/obo/DOID_18 urinary system disease An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine. http://purl.obolibrary.org/obo/SO_0001626 incomplete_terminal_codon_variant http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/DOID_4228 obsolete stromal sarcoma http://purl.obolibrary.org/obo/DOID_0111228 Sveinsson chorioretinal atrophy http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. http://purl.obolibrary.org/obo/DOID_11119 Gilles de la Tourette syndrome http://purl.obolibrary.org/obo/DOID_2769 tic disorder A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. http://purl.obolibrary.org/obo/SO_0001597 compensatory_transcript_secondary_structure_variant http://purl.obolibrary.org/obo/SO_0001596 transcript_secondary_structure_variant http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/SO_0001598 translational_product_structure_variant http://purl.obolibrary.org/obo/DOID_4238 obsolete malignant soft tissue neoplasm of central nervous system http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. http://purl.obolibrary.org/obo/DOID_11121 pulpitis http://purl.obolibrary.org/obo/DOID_5330 dental pulp disease A dental pulp disease characterized by inflammation. http://purl.obolibrary.org/obo/SO_0001600 complex_3D_structural_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/DOID_4240 obsolete malignant miscellaneous mesenchymal tumor http://purl.obolibrary.org/obo/DOID_0111230 congenital muscular dystrophy-dystroglycanopathy type A11 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. http://purl.obolibrary.org/obo/DOID_11123 IgA vasculitis http://purl.obolibrary.org/obo/DOID_9809 hypersensitivity vasculitis A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. http://purl.obolibrary.org/obo/SO_0001601 conformational_change_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/DOID_4245 obsolete extraskeletal cartilaginous and osseous tumor http://purl.obolibrary.org/obo/DOID_0111231 congenital muscular dystrophy-dystroglycanopathy type A8 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. http://purl.obolibrary.org/obo/DOID_1114 esophagus sarcoma http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. http://purl.obolibrary.org/obo/SO_0002093 structural_interaction_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/DOID_4246 obsolete malignant mediastinal mesenchymal tumor http://purl.obolibrary.org/obo/DOID_425 obsolete certain conditions originating in the perinatal period http://purl.obolibrary.org/obo/DOID_0111232 congenital muscular dystrophy-dystroglycanopathy type A9 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. http://purl.obolibrary.org/obo/DOID_0111233 congenital muscular dystrophy-dystroglycanopathy type A14 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. http://purl.obolibrary.org/obo/DOID_0111234 congenital muscular dystrophy-dystroglycanopathy type A7 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. http://purl.obolibrary.org/obo/DOID_11148 hypersecretion glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow. http://purl.obolibrary.org/obo/SO_0001604 amino_acid_deletion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_4256 obsolete rheumatism http://purl.obolibrary.org/obo/DOID_4263 obsolete drug-induced akathisia http://purl.obolibrary.org/obo/DOID_0111235 congenital muscular dystrophy-dystroglycanopathy type A12 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. http://purl.obolibrary.org/obo/DOID_11149 aqueous misdirection http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity. http://purl.obolibrary.org/obo/SO_0001605 amino_acid_insertion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_4285 obsolete complications of pregnancy, childbirth and the puerperium http://purl.obolibrary.org/obo/DOID_0111236 congenital muscular dystrophy-dystroglycanopathy type A3 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. http://purl.obolibrary.org/obo/DOID_1115 sarcoma http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_4298 obsolete respiratory system abnormality http://purl.obolibrary.org/obo/DOID_433 obsolete Intraventricular hemorrhage from any perinatal cause http://purl.obolibrary.org/obo/DOID_0111237 congenital muscular dystrophy-dystroglycanopathy type A1 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. http://purl.obolibrary.org/obo/DOID_11153 miliaria rubra http://purl.obolibrary.org/obo/DOID_1382 miliaria A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction. http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_4332 obsolete familial hypophosphatemia http://purl.obolibrary.org/obo/DOID_0111238 congenital muscular dystrophy-dystroglycanopathy type A13 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. http://purl.obolibrary.org/obo/DOID_0111239 congenital muscular dystrophy-dystroglycanopathy type A10 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. http://purl.obolibrary.org/obo/DOID_11155 hypohidrosis http://purl.obolibrary.org/obo/DOID_1383 sweat gland disease A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands. http://purl.obolibrary.org/obo/DOID_0111240 congenital muscular dystrophy-dystroglycanopathy type A2 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. http://purl.obolibrary.org/obo/DOID_11156 anhidrosis http://purl.obolibrary.org/obo/DOID_11155 hypohidrosis A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin. http://purl.obolibrary.org/obo/SO_0001616 polypeptide_fusion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_434 obsolete anterior mediastinum cancer http://purl.obolibrary.org/obo/DOID_0111241 congenital muscular dystrophy-dystroglycanopathy type A5 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. http://purl.obolibrary.org/obo/DOID_1116 pertussis http://purl.obolibrary.org/obo/DOID_0050339 commensal bacterial infectious disease A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). http://purl.obolibrary.org/obo/SO_0001617 polypeptide_truncation http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_4349 obsolete complications occurring mainly in the course of labor and delivery http://purl.obolibrary.org/obo/DOID_11161 neonatal respiratory failure http://purl.obolibrary.org/obo/DOID_11162 respiratory failure A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates. http://purl.obolibrary.org/obo/SO_0001607 conservative_amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/DOID_0111242 congenital muscular dystrophy-dystroglycanopathy type A6 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. http://purl.obolibrary.org/obo/SO_0001608 non_conservative_amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/DOID_435 obsolete malignant neoplasm of thymus, heart and mediastinum http://purl.obolibrary.org/obo/DOID_0111243 acromicric dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. http://purl.obolibrary.org/obo/DOID_11162 respiratory failure http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease characterized by inadequate gas exchange by the respiratory system. http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/DOID_4350 obsolete bovine anaplasmosis http://purl.obolibrary.org/obo/DOID_11165 common wart http://purl.obolibrary.org/obo/DOID_11166 Human papillomavirus infectious disease A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body. http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/DOID_0111244 palmoplantar keratoderma and congenital alopecia 1 http://purl.obolibrary.org/obo/DOID_0080015 physical disorder An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. http://purl.obolibrary.org/obo/DOID_4351 obsolete primary Anaplasmataceae infectious disease http://purl.obolibrary.org/obo/DOID_11166 Human papillomavirus infectious disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. http://purl.obolibrary.org/obo/SO_0001612 elongated_in_frame_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/DOID_0111245 palmoplantar keratoderma and congenital alopecia 2 http://purl.obolibrary.org/obo/DOID_0080015 physical disorder An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. http://purl.obolibrary.org/obo/DOID_4356 obsolete regressing malignant melanoma http://purl.obolibrary.org/obo/DOID_11168 anogenital venereal wart http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. http://purl.obolibrary.org/obo/SO_0001613 elongated_out_of_frame_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/DOID_0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. http://purl.obolibrary.org/obo/DOID_0111247 hypertension and brachydactyly syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. http://purl.obolibrary.org/obo/DOID_4357 obsolete experimental melanoma http://purl.obolibrary.org/obo/DOID_11180 non-suppurative otitis media http://purl.obolibrary.org/obo/DOID_10754 otitis media A otitis media which involves transudation of fluid in the middle ear without pus formation. http://purl.obolibrary.org/obo/SO_0001614 elongated_in_frame_polypeptide_N_terminal_elongation http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/DOID_0111248 cerebrocostomandibular syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. http://purl.obolibrary.org/obo/DOID_4358 obsolete metastatic melanoma http://purl.obolibrary.org/obo/DOID_11181 serous glue ear http://purl.obolibrary.org/obo/DOID_11180 non-suppurative otitis media A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. http://purl.obolibrary.org/obo/SO_0001615 elongated_out_of_frame_polypeptide_N_terminal http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/DOID_0111249 uveal coloboma-cleft lip and palate-intellectual disability http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1. http://purl.obolibrary.org/obo/DOID_4369 obsolete brain hypoxia-Ischemia http://purl.obolibrary.org/obo/DOID_11186 allescheriosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. http://purl.obolibrary.org/obo/SO_0001620 mature_miRNA_variant http://purl.obolibrary.org/obo/SO_0001619 non_coding_transcript_variant http://purl.obolibrary.org/obo/DOID_0111250 Parkinson's disease 3 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. http://purl.obolibrary.org/obo/DOID_4375 obsolete agricultural workers' disease http://purl.obolibrary.org/obo/SO_0001792 non_coding_transcript_exon_variant http://purl.obolibrary.org/obo/SO_0001791 exon_variant http://purl.obolibrary.org/obo/DOID_11190 pseudomembranous conjunctivitis http://purl.obolibrary.org/obo/DOID_11184 acute conjunctivitis A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. http://purl.obolibrary.org/obo/DOID_0111251 Parkinson's disease 21 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. http://purl.obolibrary.org/obo/DOID_0111252 vestibular schwannomatosis http://purl.obolibrary.org/obo/DOID_3204 schwannomatosis A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. http://purl.obolibrary.org/obo/DOID_0111253 neurofibromatosis 1 http://purl.obolibrary.org/obo/DOID_8712 neurofibromatosis A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. http://purl.obolibrary.org/obo/DOID_4381 obsolete conventional alveolar rhabdomyosarcoma http://purl.obolibrary.org/obo/DOID_11193 syndactyly http://purl.obolibrary.org/obo/DOID_11971 synostosis A synostosis that results_in the fusion of two or more digits. http://purl.obolibrary.org/obo/SO_0001970 non_coding_transcript_intron_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/DOID_0111254 glutaric acidemia I http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_4383 obsolete solid alveolar rhabdomyosarcoma http://purl.obolibrary.org/obo/DOID_0111255 McKusick-Kaufman syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. http://purl.obolibrary.org/obo/SO_0002088 non_coding_transcript_splice_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/DOID_11195 acute laryngopharyngitis http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease An upper respiratory tract disease which involves inflammation of both larynx and pharynx. http://purl.obolibrary.org/obo/DOID_11197 serous conjunctivitis except viral http://purl.obolibrary.org/obo/DOID_11184 acute conjunctivitis A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge. http://purl.obolibrary.org/obo/DOID_4387 obsolete recurrent peripheral primitive neuroectodermal tumor http://purl.obolibrary.org/obo/DOID_0111256 hyperferritinemia-cataract syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/DOID_11198 DiGeorge syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. http://purl.obolibrary.org/obo/DOID_4403 obsolete cervical glandular tumor http://purl.obolibrary.org/obo/DOID_0111257 gamma-glutamyl transpeptidase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/DOID_11199 hypoparathyroidism http://purl.obolibrary.org/obo/DOID_11201 parathyroid gland disease A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. http://purl.obolibrary.org/obo/DOID_4410 obsolete contact dermatitis due to arnica http://purl.obolibrary.org/obo/DOID_0111258 pentosuria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. http://purl.obolibrary.org/obo/DOID_11201 parathyroid gland disease http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease that is located_in the parathyroid gland. http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_4425 obsolete lipogranuloma http://purl.obolibrary.org/obo/DOID_0111259 postaxial acrofacial dysostosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. http://purl.obolibrary.org/obo/DOID_11202 primary hyperparathyroidism http://purl.obolibrary.org/obo/DOID_13543 hyperparathyroidism A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood. http://purl.obolibrary.org/obo/SO_0002013 5_prime_UTR_truncation http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_4443 obsolete cervical soft tissue tumor http://purl.obolibrary.org/obo/DOID_0111260 phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. http://purl.obolibrary.org/obo/DOID_11204 allergic conjunctivitis http://purl.obolibrary.org/obo/DOID_2475 chronic conjunctivitis A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. http://purl.obolibrary.org/obo/SO_0002014 5_prime_UTR_elongation http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_4445 obsolete arachnoid cyst http://purl.obolibrary.org/obo/DOID_0111261 fumarase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. http://purl.obolibrary.org/obo/DOID_11206 opioid abuse http://purl.obolibrary.org/obo/DOID_302 substance abuse A substance abuse that involves the recurring use of opioid drugs despite negative consequences. http://purl.obolibrary.org/obo/SO_0002091 5_prime_UTR_intron_variant http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/DOID_4446 obsolete central nervous system cyst http://purl.obolibrary.org/obo/DOID_0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. http://purl.obolibrary.org/obo/DOID_0111263 combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. http://purl.obolibrary.org/obo/DOID_11211 buphthalmos http://purl.obolibrary.org/obo/DOID_11212 hydrophthalmos A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. http://purl.obolibrary.org/obo/SO_0002092 5_prime_UTR_exon_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_4452 obsolete recurrent renal cell carcinoma http://purl.obolibrary.org/obo/DOID_0111264 Ruijs-Aalfs syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. http://purl.obolibrary.org/obo/DOID_11212 hydrophthalmos http://purl.obolibrary.org/obo/DOID_0050593 primary congenital glaucoma A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_4478 obsolete drug-Induced dyskinesia http://purl.obolibrary.org/obo/DOID_0070333 breast implant-associated anaplastic large cell lymphoma http://purl.obolibrary.org/obo/DOID_0050749 peripheral T-cell lymphoma A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. http://purl.obolibrary.org/obo/DOID_11213 acute contagious conjunctivitis http://purl.obolibrary.org/obo/DOID_11184 acute conjunctivitis A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus. http://purl.obolibrary.org/obo/SO_0002015 3_prime_UTR_truncation http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_448 obsolete facial neoplasm http://purl.obolibrary.org/obo/DOID_0080589 Klippel-Feil syndrome 1 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_11219 conjunctival folliculosis http://purl.obolibrary.org/obo/DOID_11184 acute conjunctivitis An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae. http://purl.obolibrary.org/obo/SO_0002016 3_prime_UTR_elongation http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_449 obsolete head neoplasm http://purl.obolibrary.org/obo/DOID_0080590 Klippel-Feil syndrome 2 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_11227 acute hemorrhagic conjunctivitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 (Enterovirus coxsackiepol) or has_material_basis_in Human enterovirus 70 (Enterovirus deconjuncti), which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis. http://purl.obolibrary.org/obo/SO_0002089 3_prime_UTR_exon_variant http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0002090 3_prime_UTR_intron_variant http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/DOID_4496 obsolete metastatic malignant neoplasm to the cervix http://purl.obolibrary.org/obo/DOID_4499 obsolete child nutrition disorder http://purl.obolibrary.org/obo/DOID_0080591 Klippel-Feil syndrome 3 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_11231 orbital periostitis http://purl.obolibrary.org/obo/DOID_11230 acute orbital inflammation An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit. http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/DOID_4502 obsolete relapsed angiosarcoma http://purl.obolibrary.org/obo/DOID_0080592 Klippel-Feil syndrome 4 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_11232 orbital osteomyelitis http://purl.obolibrary.org/obo/DOID_11230 acute orbital inflammation An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum. http://purl.obolibrary.org/obo/SO_0002018 conserved_intron_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/DOID_4509 obsolete angiosarcoma associated with lymphedema http://purl.obolibrary.org/obo/DOID_0080593 orofacial cleft 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_11233 orbital tenonitis http://purl.obolibrary.org/obo/DOID_11230 acute orbital inflammation An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon. http://purl.obolibrary.org/obo/SO_0001574 splice_acceptor_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/DOID_4539 obsolete labyrinthine disease http://purl.obolibrary.org/obo/DOID_0080594 hyper IgE recurrent infection syndrome 2 http://purl.obolibrary.org/obo/DOID_0080545 hyper IgE syndrome A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_11234 orbital cellulitis http://purl.obolibrary.org/obo/DOID_11230 acute orbital inflammation An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision. http://purl.obolibrary.org/obo/SO_0001575 splice_donor_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/DOID_4582 obsolete metastatic meningioma http://purl.obolibrary.org/obo/DOID_0080595 autosomal recessive hyper-IgE syndrome 3 with recurrent infections http://purl.obolibrary.org/obo/DOID_0080545 hyper IgE syndrome A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_11235 adhesive otitis media http://purl.obolibrary.org/obo/DOID_2742 auditory system disease An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. http://purl.obolibrary.org/obo/DOID_11239 appendix cancer http://purl.obolibrary.org/obo/DOID_60000 appendix disease A intestinal cancer that is located_in the appendix. http://purl.obolibrary.org/obo/SO_0001787 splice_donor_5th_base_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/DOID_4583 obsolete deletion of short arm of chromosome 1 (1p) associated meningioma http://purl.obolibrary.org/obo/DOID_0080596 hyper IgE recurrent infection syndrome 4 http://purl.obolibrary.org/obo/DOID_0080545 hyper IgE syndrome A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. http://purl.obolibrary.org/obo/DOID_11243 anemia of prematurity http://purl.obolibrary.org/obo/DOID_11244 neonatal anemia A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks. http://purl.obolibrary.org/obo/SO_0002084 exonic_splice_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/DOID_4585 obsolete relapsed meningioma http://purl.obolibrary.org/obo/DOID_0111505 palmoplantar keratoderma-deafness syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. http://purl.obolibrary.org/obo/DOID_11244 neonatal anemia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia that is characterized by a lower red blood cell count than normal in neonates. http://purl.obolibrary.org/obo/SO_0002170 splice_donor_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/DOID_4589 obsolete deletion of chromosome 22 associated meningioma http://purl.obolibrary.org/obo/DOID_0111506 palmoplantar keratoderma-esophageal carcinoma syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_11249 vitamin K deficiency bleeding http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications. http://purl.obolibrary.org/obo/SO_0001635 5KB_upstream_variant http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/SO_0001636 2KB_upstream_variant http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/DOID_4590 obsolete multiple meningiomas http://purl.obolibrary.org/obo/DOID_0111507 Lenz-Majewski hyperostotic dwarfism http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_11252 microcytic anemia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear. http://purl.obolibrary.org/obo/SO_0001633 5KB_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/DOID_4595 obsolete adult meningioma http://purl.obolibrary.org/obo/DOID_4596 obsolete central nervous system adult tumor http://purl.obolibrary.org/obo/DOID_0111508 Torrance type platyspondylic dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. http://purl.obolibrary.org/obo/DOID_11254 Brill-Zinsser disease http://purl.obolibrary.org/obo/DOID_0050480 epidemic typhus An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. http://purl.obolibrary.org/obo/SO_0001634 500B_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/DOID_4598 obsolete deletion of chromosome 3p associated meningioma http://purl.obolibrary.org/obo/DOID_0111509 lymphedema-distichiasis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/DOID_11256 typhus http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites. http://purl.obolibrary.org/obo/SO_0002083 2KB_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/DOID_4615 obsolete carcinoma of unknown primary http://purl.obolibrary.org/obo/DOID_0111510 Marshall syndrome http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. http://purl.obolibrary.org/obo/DOID_0111511 melanoma and neural system tumor syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. http://purl.obolibrary.org/obo/DOID_11257 social phobia http://purl.obolibrary.org/obo/DOID_591 phobic disorder A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. http://purl.obolibrary.org/obo/SO_0001820 inframe_indel http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/DOID_4625 obsolete enchondromatosis http://purl.obolibrary.org/obo/DOID_0111512 metachondromatosis http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. http://purl.obolibrary.org/obo/DOID_11258 cat-scratch disease http://purl.obolibrary.org/obo/DOID_9942 lymph node disease A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/DOID_4631 obsolete inverted papilloma of paranasal sinus http://purl.obolibrary.org/obo/DOID_0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. http://purl.obolibrary.org/obo/DOID_11260 rabies http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in viruses in the genus Lyssavirus, which are transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. Most human cases of rabies are caused by the Rabies virus (Lyssavirus rabies) transmitted from dogs. http://purl.obolibrary.org/obo/DOID_11262 ornithosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. http://purl.obolibrary.org/obo/SO_0001775 maternal_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/DOID_4641 obsolete Bacteroides infectious disease http://purl.obolibrary.org/obo/DOID_0111514 metatropic dysplasia http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. http://purl.obolibrary.org/obo/DOID_11263 chlamydia http://purl.obolibrary.org/obo/DOID_0050339 commensal bacterial infectious disease A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. http://purl.obolibrary.org/obo/SO_0001776 paternal_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/DOID_4655 obsolete relapsed retinoblastoma http://purl.obolibrary.org/obo/DOID_0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. http://purl.obolibrary.org/obo/DOID_11265 trachoma http://purl.obolibrary.org/obo/DOID_5614 eye disease A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. http://purl.obolibrary.org/obo/SO_0001777 somatic_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/DOID_4665 obsolete superficial keratitis without conjunctivitis http://purl.obolibrary.org/obo/DOID_0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. http://purl.obolibrary.org/obo/DOID_11266 Hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. http://purl.obolibrary.org/obo/SO_0001778 germline_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/DOID_4684 obsolete skin appendage carcinoma http://purl.obolibrary.org/obo/DOID_4694 obsolete malignant peripheral nerve neoplasm http://purl.obolibrary.org/obo/DOID_0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. http://purl.obolibrary.org/obo/DOID_11285 tick paralysis http://purl.obolibrary.org/obo/DOID_4109 tick infestation A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/DOID_4700 obsolete bathing trunk nevus http://purl.obolibrary.org/obo/DOID_4705 obsolete childhood brain tumor http://purl.obolibrary.org/obo/DOID_0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. http://purl.obolibrary.org/obo/DOID_11289 ventilation pneumonitis http://purl.obolibrary.org/obo/DOID_841 extrinsic allergic alveolitis An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/DOID_4711 obsolete krebs 2 carcinoma http://purl.obolibrary.org/obo/DOID_0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. http://purl.obolibrary.org/obo/DOID_11294 arteriovenous malformation http://purl.obolibrary.org/obo/DOID_255 hemangioma A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/DOID_4712 obsolete gastric mesenchymal neoplasm http://purl.obolibrary.org/obo/DOID_0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/DOID_11302 cercarial dermatitis http://purl.obolibrary.org/obo/DOID_37 skin disease A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection. http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/DOID_4714 obsolete obstetrical pelvic hematoma http://purl.obolibrary.org/obo/DOID_0111521 autosomal dominant progressive external ophthalmoplegia 1 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_11315 African histoplasmosis http://purl.obolibrary.org/obo/DOID_1731 histoplasmosis A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions. http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/DOID_4725 obsolete neck neoplasm http://purl.obolibrary.org/obo/DOID_0111522 autosomal recessive progressive external ophthalmoplegia 1 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_11320 Kyasanur forest disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus (Orthoflavivirus kyasanurense), which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems. http://purl.obolibrary.org/obo/SO_0001823 conservative_inframe_insertion http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/DOID_4726 obsolete Anterior synechiae http://purl.obolibrary.org/obo/DOID_0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_11328 schizophreniform disorder http://purl.obolibrary.org/obo/DOID_2468 psychotic disorder A psychotic disorder that involves schizophrenia symptoms over time period of one month. http://purl.obolibrary.org/obo/SO_0001824 disruptive_inframe_insertion http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/DOID_4727 obsolete adhesions of iris http://purl.obolibrary.org/obo/DOID_0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_11329 ainhum http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. http://purl.obolibrary.org/obo/SO_0001825 conservative_inframe_deletion http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/DOID_4738 obsolete Iris or ciliary body disorder http://purl.obolibrary.org/obo/DOID_0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/DOID_11335 sarcoidosis http://purl.obolibrary.org/obo/DOID_2916 hypersensitivity reaction type IV disease A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. http://purl.obolibrary.org/obo/SO_0001826 disruptive_inframe_deletion http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/DOID_4742 obsolete mixed embryonal carcinoma and teratoma of the testis http://purl.obolibrary.org/obo/DOID_0111526 Mullerian aplasia and hyperandrogenism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. http://purl.obolibrary.org/obo/DOID_11336 rhinoscleroma http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. http://purl.obolibrary.org/obo/SO_0001017 silent_mutation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/DOID_4746 obsolete olfaction disorder http://purl.obolibrary.org/obo/DOID_0111527 spinal muscular atrophy with progressive myoclonic epilepsy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. http://purl.obolibrary.org/obo/DOID_11337 Lemierre's syndrome http://purl.obolibrary.org/obo/DOID_0050339 commensal bacterial infectious disease A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/DOID_4748 obsolete childhood supratentorial neoplasm http://purl.obolibrary.org/obo/DOID_0111528 Naegeli-Franceschetti-Jadassohn syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_11338 tetanus http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. http://purl.obolibrary.org/obo/SO_0001566 regulatory_region_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/DOID_4758 obsolete peripheral anterior synechiae http://purl.obolibrary.org/obo/DOID_478 obsolete breast vascular neoplasm http://purl.obolibrary.org/obo/DOID_0111529 familial multiple nevi flammei http://purl.obolibrary.org/obo/DOID_1271 capillary disease A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. http://purl.obolibrary.org/obo/DOID_11339 pneumocystosis http://purl.obolibrary.org/obo/DOID_850 lung disease An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever. http://purl.obolibrary.org/obo/SO_0001907 feature_elongation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/DOID_4786 obsolete primitive neuroectodermal tumor with Leptomeningeal Spread http://purl.obolibrary.org/obo/DOID_0111530 linear nevus sebaceous syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. http://purl.obolibrary.org/obo/DOID_11343 scleral disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball. http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/DOID_4794 obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered http://purl.obolibrary.org/obo/DOID_0111531 bilateral optic nerve hypoplasia http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_11353 bladder diverticulum http://purl.obolibrary.org/obo/DOID_365 bladder disease A bladder disease characterized by protrusion of the bladder urothelium and mucosa via muscle fibers of the bladder wall which results in one or more thin-walled structures connected to the bladder lumen. http://purl.obolibrary.org/obo/SO_0001893 transcript_ablation http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/DOID_4799 obsolete AIDS-related idiopathic thrombocytopenic purpura http://purl.obolibrary.org/obo/DOID_0111532 osteoglophonic dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. http://purl.obolibrary.org/obo/DOID_11360 phlebotomus fever http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus (Phlebovirus napoliense) or Sandfly fever sicilian virus (Phlebovirus siciliaense), which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia. http://purl.obolibrary.org/obo/SO_0001894 regulatory_region_ablation http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/SO_0001889 transcript_amplification http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/DOID_4800 obsolete iris vascular disorder http://purl.obolibrary.org/obo/DOID_0111533 gnathodiaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. http://purl.obolibrary.org/obo/DOID_11372 megacolon http://purl.obolibrary.org/obo/DOID_5353 colonic disease A colonic disease that is characterized by an abnormal dilation of the colon. http://purl.obolibrary.org/obo/SO_0001891 regulatory_region_amplification http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/DOID_481 obsolete central nervous system hereditary degenerative disease http://purl.obolibrary.org/obo/DOID_0111534 multicentric carpotarsal osteolysis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. http://purl.obolibrary.org/obo/DOID_11379 gnathomiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. http://purl.obolibrary.org/obo/SO_0001883 transcript_translocation http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/SO_0001884 regulatory_region_translocation http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/DOID_4814 obsolete ganglioneuroma of the retroperitoneum http://purl.obolibrary.org/obo/DOID_4816 obsolete maturing ganglioneuroma http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy http://purl.obolibrary.org/obo/DOID_3044 food allergy A food allergy triggered by a vegetable food product. http://purl.obolibrary.org/obo/DOID_0070335 celery allergy http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy A vegetable allergy triggered by celery (Apium graveolens). http://purl.obolibrary.org/obo/DOID_11385 expressive language disorder http://purl.obolibrary.org/obo/DOID_93 language disorder A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. http://purl.obolibrary.org/obo/SO_0001886 transcript_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/SO_0001887 regulatory_region_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/DOID_4818 obsolete lung occult non-small cell carcinoma http://purl.obolibrary.org/obo/DOID_0070337 epithelial recurrent erosion dystrophy http://purl.obolibrary.org/obo/DOID_0060440 epithelial and subepithelial dystrophy An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. http://purl.obolibrary.org/obo/DOID_11387 epidural abscess http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). http://purl.obolibrary.org/obo/SO_0001890 transcript_regulatory_region_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/DOID_4819 obsolete lung occult carcinoma http://purl.obolibrary.org/obo/DOID_0080618 lymph node carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_4828 obsolete metastatic lung carcinoma http://purl.obolibrary.org/obo/DOID_4831 obsolete spleen mast cell malignancy http://purl.obolibrary.org/obo/DOID_11389 subdural empyema http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space. http://purl.obolibrary.org/obo/SO_0001885 TFBS_translocation http://purl.obolibrary.org/obo/SO_0001884 regulatory_region_translocation http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An adrenal cortex disease that is characterized by insufficient production of glucocorticoids. http://purl.obolibrary.org/obo/DOID_4832 obsolete non small cell lung cancer recurrent http://purl.obolibrary.org/obo/DOID_11394 adult respiratory distress syndrome http://purl.obolibrary.org/obo/DOID_11162 respiratory failure A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. http://purl.obolibrary.org/obo/SO_0001888 TFBS_fusion http://purl.obolibrary.org/obo/SO_0001887 regulatory_region_fusion http://purl.obolibrary.org/obo/DOID_0080621 glucocorticoid deficiency 1 http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_0080622 peroxisome biogenesis disorder 2B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3. http://purl.obolibrary.org/obo/DOID_4833 obsolete recurrent lung carcinoma http://purl.obolibrary.org/obo/DOID_0080623 Heimler syndrome 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_4841 obsolete malignant tumor of epidermal appendage http://purl.obolibrary.org/obo/DOID_11396 pulmonary edema http://purl.obolibrary.org/obo/DOID_11162 respiratory failure A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. http://purl.obolibrary.org/obo/SO_0001892 TFBS_amplification http://purl.obolibrary.org/obo/SO_0001891 regulatory_region_amplification http://purl.obolibrary.org/obo/DOID_0080624 Heimler syndrome 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_4850 obsolete glioma of visual pathway http://purl.obolibrary.org/obo/DOID_114 heart disease http://purl.obolibrary.org/obo/DOID_1287 cardiovascular system disease A cardiovascular system disease that involves the heart. http://purl.obolibrary.org/obo/SO_0001895 TFBS_ablation http://purl.obolibrary.org/obo/SO_0001894 regulatory_region_ablation http://purl.obolibrary.org/obo/DOID_488 obsolete malignant bone vascular tumor http://purl.obolibrary.org/obo/DOID_4882 obsolete pediatric soft part clear cell sarcoma http://purl.obolibrary.org/obo/DOID_0080625 severe congenital neutropenia 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0080626 corticosterone methyloxidase deficiency 1 http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. http://purl.obolibrary.org/obo/DOID_11405 diphtheria http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. http://purl.obolibrary.org/obo/SO_0001587 stop_gained http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/SO_0001907 feature_elongation http://purl.obolibrary.org/obo/DOID_4884 obsolete peritoneal neoplasm http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. http://purl.obolibrary.org/obo/DOID_11424 fallopian tube endometriosis http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube. http://purl.obolibrary.org/obo/SO_0001988 5_prime_UTR_premature_start_codon_gain_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/DOID_4898 obsolete adenocarcinoma in a polyp http://purl.obolibrary.org/obo/DOID_0080628 alopecia-mental retardation syndrome 1 http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_11427 endosalpingiosis http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube. http://purl.obolibrary.org/obo/DOID_11428 endometriosis of intestine http://purl.obolibrary.org/obo/DOID_5295 intestinal disease A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine. http://purl.obolibrary.org/obo/DOID_11429 endometriosis of pelvic peritoneum http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum. http://purl.obolibrary.org/obo/SO_0001989 5_prime_UTR_premature_start_codon_loss_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/DOID_4900 obsolete mixed cell adenocarcinoma http://purl.obolibrary.org/obo/DOID_0080629 alopecia-mental retardation syndrome 2 http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. http://purl.obolibrary.org/obo/DOID_11430 endometriosis in scar of skin http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin. http://purl.obolibrary.org/obo/SO_0001990 five_prime_UTR_premature_start_codon_location_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/DOID_4904 obsolete intestinal type carcinoma http://purl.obolibrary.org/obo/DOID_0080631 Elsahy-Waters syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. http://purl.obolibrary.org/obo/DOID_11431 endometriosis of rectovaginal septum and vagina http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina. http://purl.obolibrary.org/obo/DOID_11432 endometriosis of ovary http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary. http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/DOID_4911 obsolete superficial spreading adenocarcinoma http://purl.obolibrary.org/obo/DOID_0080632 Fazio-Londe disease http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_11450 allergic cutaneous vasculitis http://purl.obolibrary.org/obo/DOID_9809 hypersensitivity vasculitis A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. http://purl.obolibrary.org/obo/SO_0002009 selenocysteine_loss http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/DOID_4912 obsolete disseminated adenocarcinoma http://purl.obolibrary.org/obo/DOID_0080633 developmental cardiac valvular defect http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_11457 brain compression http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain. http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease A peripheral nervous system disease that is located_in the autonomic nervous system. http://purl.obolibrary.org/obo/SO_0002010 pyrrolysine_loss http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/DOID_4935 obsolete acidophil carcinoma http://purl.obolibrary.org/obo/DOID_0080634 nanophthalmos http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. http://purl.obolibrary.org/obo/DOID_11476 osteoporosis http://purl.obolibrary.org/obo/DOID_0080011 bone resorption disease A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. http://purl.obolibrary.org/obo/SO_0002317 absent_gene_product http://purl.obolibrary.org/obo/SO_0002316 decreased_gene_product_level http://purl.obolibrary.org/obo/DOID_1148 polydactyly http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. http://purl.obolibrary.org/obo/DOID_11482 hemopericardium http://purl.obolibrary.org/obo/DOID_118 pericardial effusion A pericardial effusion that results from blood in the pericardial sac. http://purl.obolibrary.org/obo/DOID_11486 Horner's syndrome http://purl.obolibrary.org/obo/DOID_11504 autonomic neuropathy An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics. http://purl.obolibrary.org/obo/DOID_4936 obsolete mixed eosinophil-basophil carcinoma http://purl.obolibrary.org/obo/DOID_0080635 optic disc anomalies with retinal and/or macular dystrophy http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. http://purl.obolibrary.org/obo/SO_0002076 incomplete_transcript_3UTR_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SO_0002077 incomplete_transcript_5UTR_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/DOID_11491 acquired night blindness http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated. http://purl.obolibrary.org/obo/DOID_4937 obsolete oxyphilic adenocarcinoma http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. http://purl.obolibrary.org/obo/SO_0002078 incomplete_transcript_intronic_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/DOID_115 cardiac tamponade http://purl.obolibrary.org/obo/DOID_118 pericardial effusion A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. http://purl.obolibrary.org/obo/DOID_11506 suppurative otitis media http://purl.obolibrary.org/obo/DOID_10754 otitis media A otitis media which involves inflammation of the middle ear with infected effusion containing pus. http://purl.obolibrary.org/obo/DOID_4942 obsolete combined hepatocellular carcinoma and cholangiocarcinoma http://purl.obolibrary.org/obo/DOID_0080637 isolated microphthalmia http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that occurs by itself. http://purl.obolibrary.org/obo/DOID_0080641 tongue carcinoma http://purl.obolibrary.org/obo/DOID_8649 tongue cancer A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. http://purl.obolibrary.org/obo/SO_0002079 incomplete_transcript_splice_region_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/DOID_11507 rumination disorder http://purl.obolibrary.org/obo/DOID_8670 eating disorder An eating disorder that is characterized by effortless regurgitation of most meals following consumption. http://purl.obolibrary.org/obo/DOID_4956 obsolete leptomeningeal neoplasm http://purl.obolibrary.org/obo/DOID_0111697 cleft palate, cardiac defects, and intellectual disability http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. http://purl.obolibrary.org/obo/SO_0002080 incomplete_transcript_exonic_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SO_0002081 incomplete_transcript_CDS http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/DOID_11512 Budd-Chiari syndrome http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. http://purl.obolibrary.org/obo/DOID_4966 obsolete adrenocortical hyperplasia http://purl.obolibrary.org/obo/DOID_0111698 proprotein convertase 1/3 deficiency http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. http://purl.obolibrary.org/obo/SO_0002082 incomplete_transcript_coding_splice_variant http://purl.obolibrary.org/obo/SO_0002079 incomplete_transcript_splice_region_variant http://purl.obolibrary.org/obo/SO_1000029 chromosomal_deletion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000030 chromosomal_inversion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/DOID_11516 hypertensive heart disease http://purl.obolibrary.org/obo/DOID_114 heart disease A heart disease that is caused by high blood pressure. http://purl.obolibrary.org/obo/DOID_11549 Adie syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. http://purl.obolibrary.org/obo/DOID_4967 obsolete adrenal hyperplasia http://purl.obolibrary.org/obo/DOID_0111699 Van den Ende-Gupta syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/SO_1000045 ring_chromosome http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_0002060 interchromosomal_translocation http://purl.obolibrary.org/obo/SO_1000044 chromosomal_translocation http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/DOID_11554 Chandler syndrome http://purl.obolibrary.org/obo/DOID_2566 corneal dystrophy A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma. http://purl.obolibrary.org/obo/DOID_11555 Fuchs' endothelial dystrophy http://purl.obolibrary.org/obo/DOID_0060443 corneal endothelial dystrophy A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. http://purl.obolibrary.org/obo/DOID_4975 obsolete Actinobacillus infectious disease http://purl.obolibrary.org/obo/DOID_4978 obsolete Ewing's family recurrent tumor http://purl.obolibrary.org/obo/DOID_4979 obsolete recurrent primitive neuroectodermal tumor http://purl.obolibrary.org/obo/DOID_4982 obsolete metastatic Ewing's sarcoma http://purl.obolibrary.org/obo/DOID_4983 obsolete metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor http://purl.obolibrary.org/obo/DOID_0111700 ankyrin-B-related cardiac arrhythmia http://purl.obolibrary.org/obo/DOID_114 heart disease A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. http://purl.obolibrary.org/obo/SO_1000037 chromosomal_duplication http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/DOID_11557 acute serous otitis media http://purl.obolibrary.org/obo/DOID_3697 acute transudative otitis media A acute transudative otitis media with thin, watery and sterile effusion. http://purl.obolibrary.org/obo/SO_1000044 chromosomal_translocation http://purl.obolibrary.org/obo/SO_0000199 translocation http://purl.obolibrary.org/obo/SYMP_0000195 abnormal hemiwalking hemistanding http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/SYMP_0000670 abnormal hemiwalking http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/SYMP_0000190 wheelbarrowing http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/DOID_4987 obsolete recurrent Ewing's sarcoma http://purl.obolibrary.org/obo/DOID_4999 obsolete syphilitic alopecia http://purl.obolibrary.org/obo/DOID_0111701 long QT syndrome 4 http://purl.obolibrary.org/obo/DOID_2843 long QT syndrome A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. http://purl.obolibrary.org/obo/DOID_11558 acute allergic serous otitis media http://purl.obolibrary.org/obo/DOID_1205 allergic disease A acute serous otitis media caused by an allergen. http://purl.obolibrary.org/obo/SYMP_0000669 abnormal hemistanding http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/DOID_5000 obsolete cutaneous syphilis http://purl.obolibrary.org/obo/DOID_5006 obsolete adult primary liver cancer http://purl.obolibrary.org/obo/DOID_5007 obsolete resectable hepatocellular carcinoma http://purl.obolibrary.org/obo/DOID_5017 obsolete hepatitis virus related hepatocellular carcinoma http://purl.obolibrary.org/obo/DOID_5019 obsolete non-resectable hepatocellular carcinoma http://purl.obolibrary.org/obo/DOID_0111702 loose anagen hair syndrome http://purl.obolibrary.org/obo/DOID_987 alopecia An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age. http://purl.obolibrary.org/obo/DOID_1156 chondrocalcinosis http://purl.obolibrary.org/obo/DOID_848 arthritis An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. http://purl.obolibrary.org/obo/NCBITaxon_73230 [Emmonsia] crescens http://purl.obolibrary.org/obo/NCBITaxon_1955773 Emergomyces http://purl.obolibrary.org/obo/DOID_5027 obsolete recurrent hepatocellular carcinoma http://purl.obolibrary.org/obo/DOID_0111703 familial hypertryptophanemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. http://purl.obolibrary.org/obo/DOID_11563 retinal vasculitis http://purl.obolibrary.org/obo/DOID_865 vasculitis A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images. http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/DOID_5028 obsolete recurrent cancer of Liver http://purl.obolibrary.org/obo/DOID_0111704 chromosome 2q37 deletion syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. http://purl.obolibrary.org/obo/DOID_11569 neurocirculatory asthenia http://purl.obolibrary.org/obo/DOID_4737 somatoform disorder A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities. http://purl.obolibrary.org/obo/NCBITaxon_6246 Strongyloididae http://purl.obolibrary.org/obo/NCBITaxon_2082224 Strongyloidoidea http://purl.obolibrary.org/obo/DOID_5053 obsolete primary Burkholderia infectious disease http://purl.obolibrary.org/obo/DOID_0111705 oculoectodermal syndrome http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. http://purl.obolibrary.org/obo/DOID_11572 Listeria meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection. http://purl.obolibrary.org/obo/NCBITaxon_60516 Dibothriocephalus latus http://purl.obolibrary.org/obo/NCBITaxon_2267273 Dibothriocephalus http://purl.obolibrary.org/obo/DOID_5055 obsolete neuronal and mixed neuronal-glial tumor of cerebellum http://purl.obolibrary.org/obo/DOID_0111706 oblique facial clefting 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. http://purl.obolibrary.org/obo/DOID_11573 listeriosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. http://purl.obolibrary.org/obo/CHEBI_53662 biguanides http://purl.obolibrary.org/obo/CHEBI_24436 guanidines http://purl.obolibrary.org/obo/CHEBI_55373 isoxazoles http://purl.obolibrary.org/obo/CHEBI_35790 oxazole http://purl.obolibrary.org/obo/CHEBI_26401 purines http://purl.obolibrary.org/obo/CHEBI_35875 imidazopyrimidine http://purl.obolibrary.org/obo/DOID_5069 obsolete uterine corpus soft tissue neoplasm http://purl.obolibrary.org/obo/DOID_0111707 Bothnian type palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. http://purl.obolibrary.org/obo/DOID_11574 streptococcal meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis A bacterial meningitis that has_material_basis_in streptococcal bacteria. http://purl.obolibrary.org/obo/DOID_11577 Cauda equina syndrome http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. http://purl.obolibrary.org/obo/CHEBI_22693 barbiturates http://purl.obolibrary.org/obo/CHEBI_38337 pyrimidone http://purl.obolibrary.org/obo/DOID_5070 obsolete neoplasm of body of uterus http://purl.obolibrary.org/obo/DOID_0111708 focal nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050428 nonepidermolytic palmoplantar keratoderma A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. http://purl.obolibrary.org/obo/DOID_0111709 focal nonepidermolytic palmoplantar keratoderma 1 http://purl.obolibrary.org/obo/DOID_0111708 focal nonepidermolytic palmoplantar keratoderma A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_11589 familial dysautonomia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by progressive degeneration of sensory and autonomic neurons with congenital or neonatal onset resulting in impaired pain and temperature perception and profound dysautonomia that has_material_basis_in homozygous or compound heterozygous mutation in the ELP1 gene on chromosome 9q31. Common signs and symptoms include gastrointestinal dysfunction with vomiting crises, recurrent aspiration pneumonia, altered sensitivity to pain and temperature, extreme blood pressure variability with postural hypotension, hypotonia, decreased or absent deep tendon reflexes, decreased taste and absence of fungiform papillae of the tongue, alacrima, and early or sudden death. http://purl.obolibrary.org/obo/DOID_5071 obsolete central nervous system soft tissue neoplasm http://purl.obolibrary.org/obo/CHEBI_33365 platinum group metal atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/DOID_11599 Frey syndrome http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways. http://purl.obolibrary.org/obo/DOID_0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_5072 obsolete meninges gliomatosis http://purl.obolibrary.org/obo/CHEBI_36388 saturated organic heterocyclic parent http://purl.obolibrary.org/obo/CHEBI_35552 heterocyclic organic fundamental parent http://purl.obolibrary.org/obo/DOID_11603 infant gynecomastia http://purl.obolibrary.org/obo/DOID_3463 breast disease A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age. http://purl.obolibrary.org/obo/DOID_0111711 focal nonepidermolytic palmoplantar keratoderma 2 http://purl.obolibrary.org/obo/DOID_0111708 focal nonepidermolytic palmoplantar keratoderma A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_5073 obsolete malignant neoplasm of meninges http://purl.obolibrary.org/obo/CHEBI_36607 cyclic acid anhydride http://purl.obolibrary.org/obo/CHEBI_36606 acid anhydride http://purl.obolibrary.org/obo/DOID_11608 fungal meningitis http://purl.obolibrary.org/obo/DOID_9471 meningitis A meningitis that has_material_basis_in a fungal infection. http://purl.obolibrary.org/obo/DOID_0111712 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0111713 Temple syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0111714 Mulchandani-Bhoj-Conlin syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. http://purl.obolibrary.org/obo/DOID_0111715 Schaaf-Yang syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. http://purl.obolibrary.org/obo/DOID_5097 obsolete axillary cancer http://purl.obolibrary.org/obo/CHEBI_53556 toluene 2,4-diisocyanate http://purl.obolibrary.org/obo/CHEBI_53555 toluene meta-diisocyanate http://purl.obolibrary.org/obo/DOID_11612 polycystic ovary syndrome http://purl.obolibrary.org/obo/DOID_1414 ovarian dysfunction An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. http://purl.obolibrary.org/obo/DOID_0111824 Aarskog syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. http://purl.obolibrary.org/obo/DOID_5107 obsolete achromic nevus http://purl.obolibrary.org/obo/SO_0000135 maternally_imprinted http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/DOID_11623 dental pulp necrosis http://purl.obolibrary.org/obo/DOID_5330 dental pulp disease A dental pulp disease characterized by death of the pulp tissue. http://purl.obolibrary.org/obo/DOID_0080831 subjective cognitive decline http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints. http://purl.obolibrary.org/obo/DOID_5116 obsolete central nervous system dermoid cyst http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/DOID_11629 pelvic muscle wasting http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two. http://purl.obolibrary.org/obo/DOID_0080832 mild cognitive impairment http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living. http://purl.obolibrary.org/obo/DOID_5133 obsolete skin tumor of smooth muscle origin http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/DOID_11650 bronchopulmonary dysplasia http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. http://purl.obolibrary.org/obo/DOID_0080833 laryngomalacia http://purl.obolibrary.org/obo/DOID_786 laryngeal disease A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. http://purl.obolibrary.org/obo/DOID_5205 obsolete inborn errors fructose metabolism http://purl.obolibrary.org/obo/NCBITaxon_5552 Trichosporon http://purl.obolibrary.org/obo/NCBITaxon_1759442 Trichosporonaceae http://purl.obolibrary.org/obo/DOID_11656 cicatricial pemphigoid http://purl.obolibrary.org/obo/DOID_0080841 pemphigoid A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. http://purl.obolibrary.org/obo/DOID_0080834 acquired laryngomalacia http://purl.obolibrary.org/obo/DOID_786 laryngeal disease A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. http://purl.obolibrary.org/obo/DOID_5226 obsolete vaginal blue nevus http://purl.obolibrary.org/obo/NCBITaxon_333754 Alphapapillomavirus 10 http://purl.obolibrary.org/obo/NCBITaxon_333750 Alphapapillomavirus http://purl.obolibrary.org/obo/DOID_1166 palindromic rheumatism http://purl.obolibrary.org/obo/DOID_848 arthritis An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. http://purl.obolibrary.org/obo/DOID_0080835 TORCH syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. http://purl.obolibrary.org/obo/DOID_0112153 hypomyelinating leukodystrophy 20 http://purl.obolibrary.org/obo/DOID_0060786 hypomyelinating leukodystrophy A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_5227 obsolete cellular blue nevus http://purl.obolibrary.org/obo/NCBITaxon_32594 Babesiidae http://purl.obolibrary.org/obo/NCBITaxon_5863 Piroplasmida http://purl.obolibrary.org/obo/DOID_11661 blue color blindness http://purl.obolibrary.org/obo/DOID_13399 color blindness A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. http://purl.obolibrary.org/obo/NCBITaxon_31244 Schistosomatoidea http://purl.obolibrary.org/obo/NCBITaxon_6180 Strigeidida http://purl.obolibrary.org/obo/DOID_11668 hypopigmentation of eyelid http://purl.obolibrary.org/obo/DOID_530 eyelid disease A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances. http://purl.obolibrary.org/obo/DOID_0112154 inflammatory bowel disease 30 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/DOID_5228 obsolete common blue nevus http://purl.obolibrary.org/obo/NCBITaxon_27847 Echinostoma http://purl.obolibrary.org/obo/NCBITaxon_99737 Echinostomatidae http://purl.obolibrary.org/obo/DOID_5231 obsolete peritoneal and retroperitoneal tumors http://purl.obolibrary.org/obo/NCBITaxon_3052189 Erythroparvovirus primate1 http://purl.obolibrary.org/obo/NCBITaxon_40121 Erythroparvovirus http://purl.obolibrary.org/obo/NCBITaxon_1538075 Malasseziomycetes http://purl.obolibrary.org/obo/NCBITaxon_452284 Ustilaginomycotina http://purl.obolibrary.org/obo/DOID_11678 onchocerciasis http://purl.obolibrary.org/obo/DOID_1080 filariasis A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. http://purl.obolibrary.org/obo/DOID_0112155 inflammatory bowel disease 29 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1. http://purl.obolibrary.org/obo/DOID_5239 obsolete glomus tumor of uncertain malignant potential http://purl.obolibrary.org/obo/NCBITaxon_742845 Malasseziaceae http://purl.obolibrary.org/obo/NCBITaxon_162474 Malasseziales http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disease that is characterized by elevated levels of lipids in the blood. http://purl.obolibrary.org/obo/DOID_0112156 X-linked dyserythropoietic anemia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. http://purl.obolibrary.org/obo/DOID_5242 obsolete resectable cholangiocellular carcinoma http://purl.obolibrary.org/obo/NCBITaxon_1759442 Trichosporonaceae http://purl.obolibrary.org/obo/NCBITaxon_1851469 Trichosporonales http://purl.obolibrary.org/obo/DOID_11695 portal vein thrombosis http://purl.obolibrary.org/obo/DOID_0060903 thrombosis A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. http://purl.obolibrary.org/obo/DOID_0112157 X-linked atrophic macular degeneration http://purl.obolibrary.org/obo/DOID_4448 macular degeneration A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_5244 obsolete visual alteration http://purl.obolibrary.org/obo/NCBITaxon_55193 Malassezia http://purl.obolibrary.org/obo/NCBITaxon_742845 Malasseziaceae http://purl.obolibrary.org/obo/DOID_117 heart cancer http://purl.obolibrary.org/obo/DOID_5093 thoracic cancer A cardiovascular cancer located_in the heart. http://purl.obolibrary.org/obo/DOID_0112158 De Sanctis-Cacchione syndrome http://purl.obolibrary.org/obo/DOID_0050427 xeroderma pigmentosum A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. http://purl.obolibrary.org/obo/DOID_5245 obsolete recurrent cholangiocellular carcinoma http://purl.obolibrary.org/obo/SYMP_0000531 splenomegaly http://purl.obolibrary.org/obo/SYMP_0000158 spleen symptom http://purl.obolibrary.org/obo/DOID_11701 selective IgA deficiency disease http://purl.obolibrary.org/obo/DOID_11702 dysgammaglobulinemia A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. http://purl.obolibrary.org/obo/DOID_0112159 autosomal dominant nonsyndromic deafness 78 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. http://purl.obolibrary.org/obo/DOID_5246 obsolete hilar cholangiocellular carcinoma http://purl.obolibrary.org/obo/NCBITaxon_629 Yersinia http://purl.obolibrary.org/obo/NCBITaxon_1903411 Yersiniaceae http://purl.obolibrary.org/obo/DOID_11702 dysgammaglobulinemia http://purl.obolibrary.org/obo/DOID_6025 selective immunoglobulin deficiency disease A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. http://purl.obolibrary.org/obo/NCBITaxon_160148 Troctomorpha http://purl.obolibrary.org/obo/NCBITaxon_1930602 Psocodea http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/DOID_0112160 autosomal dominant nonsyndromic deafness 79 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. http://purl.obolibrary.org/obo/DOID_5247 obsolete liver fluke-related cholangiocarcinoma http://purl.obolibrary.org/obo/DOID_11712 lipoatrophic diabetes mellitus http://purl.obolibrary.org/obo/DOID_9352 type 2 diabetes mellitus A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. http://purl.obolibrary.org/obo/NCBITaxon_1980517 Orthonairovirus http://purl.obolibrary.org/obo/NCBITaxon_1980415 Nairoviridae http://purl.obolibrary.org/obo/DOID_0112161 Noonan syndrome 13 http://purl.obolibrary.org/obo/DOID_3490 Noonan syndrome A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. http://purl.obolibrary.org/obo/DOID_0112162 autosomal recessive nonsyndromic deafness 116 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0112163 spermatogenic failure 45 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_5248 obsolete parasite-related carcinoma http://purl.obolibrary.org/obo/DOID_11713 diabetic angiopathy http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. http://purl.obolibrary.org/obo/DOID_11714 gestational diabetes http://purl.obolibrary.org/obo/DOID_9351 diabetes mellitus A diabetes mellitus that manifests during pregnancy. http://purl.obolibrary.org/obo/NCBITaxon_1980456 Orthohantavirus andesense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_0112164 spermatogenic failure 46 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. http://purl.obolibrary.org/obo/DOID_5250 obsolete non-resectable cholangiocellular carcinoma http://purl.obolibrary.org/obo/DOID_5252 obsolete leiomyosarcoma recurrent http://purl.obolibrary.org/obo/DOID_11716 prediabetes syndrome http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes. http://purl.obolibrary.org/obo/NCBITaxon_3052480 Orthohantavirus hantanense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_0112165 autosomal dominant nonsyndromic deafness 74 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. http://purl.obolibrary.org/obo/DOID_5255 obsolete leiomyosarcoma nonmetastatic http://purl.obolibrary.org/obo/DOID_11717 neonatal diabetes mellitus http://purl.obolibrary.org/obo/DOID_9351 diabetes mellitus A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life. http://purl.obolibrary.org/obo/NCBITaxon_3052493 Orthohantavirus puumalaense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_0112166 autosomal dominant nonsyndromic deafness 75 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. http://purl.obolibrary.org/obo/DOID_5266 obsolete leiomyosarcoma metastatic http://purl.obolibrary.org/obo/DOID_11718 antidepressant type abuse http://purl.obolibrary.org/obo/DOID_302 substance abuse A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. http://purl.obolibrary.org/obo/DOID_11720 distal myopathy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. http://purl.obolibrary.org/obo/DOID_11721 glycogen storage disease VII http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. http://purl.obolibrary.org/obo/NCBITaxon_3052498 Orthohantavirus seoulense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_11722 myotonic dystrophy type 1 http://purl.obolibrary.org/obo/DOID_450 myotonic disease A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. http://purl.obolibrary.org/obo/DOID_0112167 autosomal dominant nonsyndromic deafness 76 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_0112168 autosomal dominant nonsyndromic deafness 77 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. http://purl.obolibrary.org/obo/DOID_5278 obsolete pediatric leiomyosarcoma http://purl.obolibrary.org/obo/NCBITaxon_3431295 Orthohantavirus mamorense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_11723 Duchenne muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. http://purl.obolibrary.org/obo/DOID_0112169 Noonan syndrome 11 http://purl.obolibrary.org/obo/DOID_3490 Noonan syndrome A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. http://purl.obolibrary.org/obo/DOID_5281 obsolete malignant mesenchymal neoplasm of the stomach http://purl.obolibrary.org/obo/NCBITaxon_3052470 Orthohantavirus bayoui http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_11724 limb-girdle muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. http://purl.obolibrary.org/obo/DOID_0112170 Noonan syndrome 12 http://purl.obolibrary.org/obo/DOID_3490 Noonan syndrome A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. http://purl.obolibrary.org/obo/DOID_5290 obsolete uterine corpus smooth muscle neoplasm http://purl.obolibrary.org/obo/NCBITaxon_3052477 Orthohantavirus dobravaense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_11725 Cornelia de Lange syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. http://purl.obolibrary.org/obo/DOID_0112171 wrinkly skin syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_5291 obsolete adult leiomyosarcoma http://purl.obolibrary.org/obo/NCBITaxon_3052490 Orthohantavirus nigrorivense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. http://purl.obolibrary.org/obo/DOID_0112172 hereditary combined deficiency of vitamin K-dependent clotting factors http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. http://purl.obolibrary.org/obo/DOID_5294 obsolete vessel leiomyosarcoma http://purl.obolibrary.org/obo/NCBITaxon_3052499 Orthohantavirus sinnombreense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_11729 Lyme disease http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. http://purl.obolibrary.org/obo/DOID_0112173 combined deficiency of vitamin K-dependent clotting factors 1 http://purl.obolibrary.org/obo/DOID_0112172 hereditary combined deficiency of vitamin K-dependent clotting factors A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. http://purl.obolibrary.org/obo/DOID_5305 obsolete malignant ovarian clear cell neoplasm http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_2732559 Rowavirales http://purl.obolibrary.org/obo/DOID_11746 parametrium malignant neoplasm http://purl.obolibrary.org/obo/DOID_11747 uterine adnexa cancer A uterine adnexa cancer that is located_in the parametrium. http://purl.obolibrary.org/obo/DOID_0112174 combined deficiency of vitamin K-dependent clotting factors 2 http://purl.obolibrary.org/obo/DOID_0112172 hereditary combined deficiency of vitamin K-dependent clotting factors A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_5312 obsolete miscellaneous mesenchymal neoplasm http://purl.obolibrary.org/obo/NCBITaxon_10293 Alphaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/DOID_11747 uterine adnexa cancer http://purl.obolibrary.org/obo/DOID_363 uterine cancer A uterine cancer that is located_in the adnexa. http://purl.obolibrary.org/obo/DOID_11748 round ligament malignant neoplasm http://purl.obolibrary.org/obo/DOID_11747 uterine adnexa cancer A uterine adnexa cancer that is located_in the round ligament. http://purl.obolibrary.org/obo/DOID_0080836 growth hormone insensitivity syndrome with immune dysregulation 1 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_5323 obsolete fallopian tube serous tumor http://purl.obolibrary.org/obo/NCBITaxon_10357 Betaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/DOID_11750 Bordetella parapertussis whooping cough http://purl.obolibrary.org/obo/DOID_1116 pertussis A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose. http://purl.obolibrary.org/obo/DOID_0080837 growth hormone insensitivity syndrome with immune dysregulation 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_5326 obsolete Partial recent retinal detachment with single defect http://purl.obolibrary.org/obo/NCBITaxon_10374 Gammaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/DOID_11754 siderosis of eye http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body. http://purl.obolibrary.org/obo/DOID_0080839 X-linked warfarin sensitivity http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. http://purl.obolibrary.org/obo/DOID_5328 obsolete retinal detachment and defect http://purl.obolibrary.org/obo/HP_0004340 Abnormal circulating vitamin B concentration http://purl.obolibrary.org/obo/HP_0020350 Abnormal circulating vitamin concentration http://purl.obolibrary.org/obo/DOID_11755 choledocholithiasis http://purl.obolibrary.org/obo/DOID_4137 common bile duct disease A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct. http://purl.obolibrary.org/obo/DOID_0080840 optic atrophy 12 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_5335 obsolete renal neoplasm with t(6;11)(p21;q12) http://purl.obolibrary.org/obo/GENO_0000941 Y-linked inheritance http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/DOID_11758 iron deficiency anemia http://purl.obolibrary.org/obo/DOID_11252 microcytic anemia A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells. http://purl.obolibrary.org/obo/DOID_0080842 intracranial meningioma http://purl.obolibrary.org/obo/DOID_3565 meningioma A meningioma that arises within the cranial cavity. http://purl.obolibrary.org/obo/DOID_534 obsolete persistent disorder of initiating or maintaining wakefulness http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/DOID_11759 hypochromic anemia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. http://purl.obolibrary.org/obo/DOID_0080843 supratentorial meningioma http://purl.obolibrary.org/obo/DOID_3565 meningioma A meningioma that affects the supratentorial brain. http://purl.obolibrary.org/obo/DOID_5346 obsolete mediastinal endodermal sinus tumor http://purl.obolibrary.org/obo/SYMP_0020064 high blood pressure http://purl.obolibrary.org/obo/SYMP_0020063 blood pressure http://purl.obolibrary.org/obo/DOID_1176 bronchial disease http://purl.obolibrary.org/obo/DOID_0050161 lower respiratory tract disease A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. http://purl.obolibrary.org/obo/DOID_0080844 omodysplasia 1 http://purl.obolibrary.org/obo/DOID_0060288 omodysplasia An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_5347 obsolete mediastinal non-seminomatous germ cell cancer http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_11760 Kohler's disease http://purl.obolibrary.org/obo/DOID_8125 osteochondrosis An osteochondrosis that results_in death and collapse located_in navicular bone of foot. http://purl.obolibrary.org/obo/DOID_0080845 omodysplasia 2 http://purl.obolibrary.org/obo/DOID_0060288 omodysplasia An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_5354 obsolete lung PAP-AD http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_11776 absolute glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance. http://purl.obolibrary.org/obo/DOID_0080846 latent autoimmune diabetes in adults http://purl.obolibrary.org/obo/DOID_9744 type 1 diabetes mellitus A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. http://purl.obolibrary.org/obo/DOID_5355 obsolete mucinous bronchioloalveolar lung carcinoma http://purl.obolibrary.org/obo/SO_0001986 upstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/SO_0001987 downstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/SO_0002017 conserved_intergenic_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/SO_0002074 intergenic_1kb_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/GENO_0000932 polygenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/GENO_0000930 digenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/DOID_11782 astigmatism http://purl.obolibrary.org/obo/DOID_9835 refractive error A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. http://purl.obolibrary.org/obo/DOID_11797 chronic laryngitis http://purl.obolibrary.org/obo/DOID_3437 laryngitis A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. http://purl.obolibrary.org/obo/DOID_0080848 long COVID http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. http://purl.obolibrary.org/obo/DOID_5358 obsolete non-mucinous bronchioloalveolar lung carcinoma http://purl.obolibrary.org/obo/GENO_0000931 oligogenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/DOID_118 pericardial effusion http://purl.obolibrary.org/obo/DOID_0050829 pericardium disease A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. http://purl.obolibrary.org/obo/DOID_0112175 spermatogenic failure 47 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1. http://purl.obolibrary.org/obo/DOID_5359 obsolete pure BAC http://purl.obolibrary.org/obo/DOID_536 obsolete persistent disorder of initiating or maintaining sleep http://purl.obolibrary.org/obo/GENO_0000892 heteroplasmic mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/DOID_11801 protein-energy malnutrition http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation. http://purl.obolibrary.org/obo/GENO_0000893 homoplasmic mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/DOID_0112176 spermatogenic failure 48 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1. http://purl.obolibrary.org/obo/DOID_5360 obsolete AD-BAC http://purl.obolibrary.org/obo/DOID_11812 bladder sarcoma http://purl.obolibrary.org/obo/DOID_1115 sarcoma A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. http://purl.obolibrary.org/obo/NCBITaxon_11072 Japanese encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3048158 Orthoflavivirus japonicum http://purl.obolibrary.org/obo/DOID_0112177 Mayer-Rokitansky-Kuster-Hauser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. http://purl.obolibrary.org/obo/DOID_5361 obsolete mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma http://purl.obolibrary.org/obo/DOID_11818 ureteral orifice cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer An urinary bladder cancer located_in the ureteral orifice. http://purl.obolibrary.org/obo/DOID_11819 ureter cancer http://purl.obolibrary.org/obo/DOID_3996 urinary system cancer A urinary system cancer that is located_in the ureter. http://purl.obolibrary.org/obo/NCBITaxon_11086 Louping ill virus http://purl.obolibrary.org/obo/NCBITaxon_3048184 Orthoflavivirus loupingi http://purl.obolibrary.org/obo/DOID_0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 http://purl.obolibrary.org/obo/DOID_0112177 Mayer-Rokitansky-Kuster-Hauser syndrome A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. http://purl.obolibrary.org/obo/DOID_5380 obsolete lupus vulgaris http://purl.obolibrary.org/obo/DOID_11823 hepatorenal syndrome http://purl.obolibrary.org/obo/DOID_3021 acute kidney failure An acute kidney failure that is characterized by severe renal vasoconstriction. http://purl.obolibrary.org/obo/NCBITaxon_11079 Murray Valley encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3048215 Orthoflavivirus murrayense http://purl.obolibrary.org/obo/DOID_0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 http://purl.obolibrary.org/obo/DOID_0112177 Mayer-Rokitansky-Kuster-Hauser syndrome A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. http://purl.obolibrary.org/obo/DOID_5397 obsolete ductal adenoma http://purl.obolibrary.org/obo/DOID_11824 multicentric reticulohistiocytosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. http://purl.obolibrary.org/obo/DOID_11830 myopia http://purl.obolibrary.org/obo/DOID_9835 refractive error A refractive error characterized by the inability to see farther objects clearly. http://purl.obolibrary.org/obo/NCBITaxon_11083 Powassan virus http://purl.obolibrary.org/obo/NCBITaxon_3048287 Orthoflavivirus powassanense http://purl.obolibrary.org/obo/DOID_0112180 urocanase deficiency http://purl.obolibrary.org/obo/DOID_9265 histidine metabolism disease A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. http://purl.obolibrary.org/obo/DOID_5400 obsolete trabecular adenoma http://purl.obolibrary.org/obo/DOID_5404 obsolete atypical adenoma http://purl.obolibrary.org/obo/DOID_11836 clubfoot http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. http://purl.obolibrary.org/obo/DOID_0112181 Schinzel type phocomelia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe malformations of upper and lower limbs, severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/NCBITaxon_11082 West Nile virus http://purl.obolibrary.org/obo/NCBITaxon_3048448 Orthoflavivirus nilense http://purl.obolibrary.org/obo/DOID_541 obsolete convergence insufficiency or palsy http://purl.obolibrary.org/obo/DOID_11838 penis sarcoma http://purl.obolibrary.org/obo/DOID_11615 penile cancer A sarcoma and malignant neoplasm of penis that is located_in the penis. http://purl.obolibrary.org/obo/DOID_0112182 mismatch repair cancer syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis http://purl.obolibrary.org/obo/DOID_0050328 congenital hypothyroidism A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. http://purl.obolibrary.org/obo/NCBITaxon_11320 Influenza A virus http://purl.obolibrary.org/obo/NCBITaxon_2955291 Alphainfluenzavirus influenzae http://purl.obolibrary.org/obo/DOID_5416 obsolete recurrent small cell lung cancer http://purl.obolibrary.org/obo/DOID_1184 nephrotic syndrome http://purl.obolibrary.org/obo/DOID_2527 nephrosis A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. http://purl.obolibrary.org/obo/DOID_0112184 thyroid dyshormonogenesis 5 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. http://purl.obolibrary.org/obo/NCBITaxon_11250 human respiratory syncytial virus http://purl.obolibrary.org/obo/NCBITaxon_3049954 Orthopneumovirus hominis http://purl.obolibrary.org/obo/NCBITaxon_11552 Influenza C virus http://purl.obolibrary.org/obo/NCBITaxon_2955935 Gammainfluenzavirus influenzae http://purl.obolibrary.org/obo/DOID_5422 obsolete combined carcinoma of lung http://purl.obolibrary.org/obo/DOID_11851 indeterminate leprosy http://purl.obolibrary.org/obo/DOID_1024 leprosy A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. http://purl.obolibrary.org/obo/DOID_0112185 thyroid dyshormonogenesis 1 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. http://purl.obolibrary.org/obo/NCBITaxon_11577 La Crosse virus http://purl.obolibrary.org/obo/NCBITaxon_3052409 Orthobunyavirus lacrosseense http://purl.obolibrary.org/obo/DOID_5423 obsolete central nervous system hemangioblastoma http://purl.obolibrary.org/obo/DOID_5430 obsolete intraurothelial neoplasia http://purl.obolibrary.org/obo/DOID_11870 Pick's disease http://purl.obolibrary.org/obo/DOID_9255 frontotemporal dementia A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function. http://purl.obolibrary.org/obo/DOID_0112186 thyroid dyshormonogenesis 2A http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. http://purl.obolibrary.org/obo/NCBITaxon_118655 Oropouche virus http://purl.obolibrary.org/obo/NCBITaxon_3052429 Orthobunyavirus oropoucheense http://purl.obolibrary.org/obo/DOID_5455 obsolete pulmonary vascular disorder http://purl.obolibrary.org/obo/DOID_1188 mononeuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. http://purl.obolibrary.org/obo/DOID_0112187 thyroid dyshormonogenesis 3 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. http://purl.obolibrary.org/obo/NCBITaxon_213849 Campylobacterales http://purl.obolibrary.org/obo/NCBITaxon_3031852 Epsilonproteobacteria http://purl.obolibrary.org/obo/DOID_5456 obsolete spinal vascular disorder http://purl.obolibrary.org/obo/DOID_11887 ureter leiomyoma http://purl.obolibrary.org/obo/DOID_127 leiomyoma An ureteral benign neoplasm that derives_from smooth muscle cells. http://purl.obolibrary.org/obo/DOID_0112188 thyroid dyshormonogenesis 4 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. http://purl.obolibrary.org/obo/NCBITaxon_2560319 avian paramyxovirus 1 http://purl.obolibrary.org/obo/NCBITaxon_3051375 Orthoavulavirus javaense http://purl.obolibrary.org/obo/DOID_5461 obsolete primary Mycoplasma infectious disease http://purl.obolibrary.org/obo/DOID_11889 female breast nipple and areola cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the nipple and areola. http://purl.obolibrary.org/obo/DOID_0112189 thyroid dyshormonogenesis 6 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. http://purl.obolibrary.org/obo/NCBITaxon_1643688 Leptospirales http://purl.obolibrary.org/obo/NCBITaxon_3118682 Leptospiria http://purl.obolibrary.org/obo/DOID_5472 obsolete tumor of the thecoma fibroma group http://purl.obolibrary.org/obo/DOID_0112190 distal arthrogryposis type 1C http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_119 vaginal cancer http://purl.obolibrary.org/obo/DOID_121 vaginal disease A female reproductive system cancer that is located_in the vagina. http://purl.obolibrary.org/obo/HP_0025780 Abnormal volitional state http://purl.obolibrary.org/obo/HP_0025766 Abnormal affect http://purl.obolibrary.org/obo/DOID_548 obsolete malignant hypertensive heart disease http://purl.obolibrary.org/obo/DOID_5486 obsolete metastatic synovial sarcoma http://purl.obolibrary.org/obo/DOID_0112191 tetraamelia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system. http://purl.obolibrary.org/obo/DOID_11905 labium majus cancer http://purl.obolibrary.org/obo/DOID_1245 vulva cancer A vulva cancer that is located_in the labium majus. http://purl.obolibrary.org/obo/HP_0034434 Abnormal communication http://purl.obolibrary.org/obo/HP_0025792 Abnormal cognitive process http://purl.obolibrary.org/obo/DOID_5491 obsolete pediatric synovial sarcoma http://purl.obolibrary.org/obo/DOID_0112192 tetraamelia syndrome 1 http://purl.obolibrary.org/obo/DOID_0112191 tetraamelia syndrome A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. http://purl.obolibrary.org/obo/DOID_11917 tinea cruris http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. http://purl.obolibrary.org/obo/NCBITaxon_2842321 Kolmioviridae http://purl.obolibrary.org/obo/NCBITaxon_3471199 Ribozyviria incertae sedis http://purl.obolibrary.org/obo/DOID_5493 obsolete recurrent synovial sarcoma http://purl.obolibrary.org/obo/DOID_0112193 tetraamelia syndrome 2 http://purl.obolibrary.org/obo/DOID_0112191 tetraamelia syndrome A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. http://purl.obolibrary.org/obo/DOID_1192 peripheral nervous system neoplasm http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease A nervous system cancer that is located in the peripheral nervous system. http://purl.obolibrary.org/obo/CL_0011026 progenitor cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/DOID_5496 obsolete nonmetastatic synovial sarcoma http://purl.obolibrary.org/obo/DOID_0112194 Filippi syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. http://purl.obolibrary.org/obo/DOID_11920 tracheal cancer http://purl.obolibrary.org/obo/DOID_3225 tracheal disease A respiratory system cancer that is located_in the trachea. http://purl.obolibrary.org/obo/SO_0000340 chromosome http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/DOID_5549 obsolete CNS choriocarcinoma http://purl.obolibrary.org/obo/DOID_0112195 spondyloperipheral dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. http://purl.obolibrary.org/obo/DOID_11934 head and neck cancer http://purl.obolibrary.org/obo/DOID_0050686 organ system cancer An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_1000035 duplication http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/DOID_5552 obsolete mediastinum choriocarcinoma http://purl.obolibrary.org/obo/DOID_0112196 spondylometaepiphyseal dysplasia, short limb-hand type http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. http://purl.obolibrary.org/obo/DOID_11968 postmenopausal atrophic vaginitis http://purl.obolibrary.org/obo/DOID_2170 vaginitis A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency. http://purl.obolibrary.org/obo/DOID_11971 synostosis http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis that results_in abnormal fusing of adjacent bones. http://purl.obolibrary.org/obo/NCBITaxon_3050295 Cytomegalovirus humanbeta5 http://purl.obolibrary.org/obo/NCBITaxon_10358 Cytomegalovirus http://purl.obolibrary.org/obo/DOID_5562 obsolete dermoid cyst with malignant transformation http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. http://purl.obolibrary.org/obo/DOID_11976 botulism http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. http://purl.obolibrary.org/obo/DOID_11983 Prader-Willi syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. http://purl.obolibrary.org/obo/DOID_11984 hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. http://purl.obolibrary.org/obo/NCBITaxon_1230527 Curvularia hawaiiensis http://purl.obolibrary.org/obo/NCBITaxon_5502 Curvularia http://purl.obolibrary.org/obo/DOID_5575 obsolete delayed puberty http://purl.obolibrary.org/obo/NCBITaxon_6249 Ascaridomorpha http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/DOID_5578 obsolete small intestinal gastrinoma http://purl.obolibrary.org/obo/DOID_0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_11990 ulceroglandular tularemia http://purl.obolibrary.org/obo/DOID_2123 tularemia A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. http://purl.obolibrary.org/obo/NCBITaxon_2072717 Gnathostomatomorpha http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/DOID_558 obsolete acute pyelonephritis without lesion of renal medullary necrosis http://purl.obolibrary.org/obo/DOID_0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_11991 osteopoikilosis http://purl.obolibrary.org/obo/DOID_4254 osteosclerosis An osteosclerosis that results_in numerous bone islands located_in skeleton. http://purl.obolibrary.org/obo/NCBITaxon_91942 Hortaea http://purl.obolibrary.org/obo/NCBITaxon_668547 Teratosphaeriaceae http://purl.obolibrary.org/obo/NCBITaxon_5052 Aspergillus http://purl.obolibrary.org/obo/NCBITaxon_1131492 Aspergillaceae http://purl.obolibrary.org/obo/DOID_5594 obsolete intraductal papillary adenocarcinoma with invasion http://purl.obolibrary.org/obo/DOID_5599 obsolete precursor T-lymphoblastic lymphoma/leukemia http://purl.obolibrary.org/obo/DOID_0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. http://purl.obolibrary.org/obo/DOID_120 female reproductive organ cancer http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. http://purl.obolibrary.org/obo/NCBITaxon_3049954 Orthopneumovirus hominis http://purl.obolibrary.org/obo/NCBITaxon_1868215 Orthopneumovirus http://purl.obolibrary.org/obo/DOID_5600 obsolete precursor lymphoblastic lymphoma/leukemia http://purl.obolibrary.org/obo/DOID_0080875 IDH-mutant anaplastic astrocytoma http://purl.obolibrary.org/obo/DOID_3078 anaplastic astrocytoma An anaplastic astrocytoma carrying IDH mutations. http://purl.obolibrary.org/obo/DOID_12002 trachea sarcoma http://purl.obolibrary.org/obo/DOID_11920 tracheal cancer A sarcoma and malignant tumor of trachea that is located_in the trachea. http://purl.obolibrary.org/obo/NCBITaxon_3977 Euphorbiaceae http://purl.obolibrary.org/obo/NCBITaxon_3646 Malpighiales http://purl.obolibrary.org/obo/NCBITaxon_235631 Crotonoideae http://purl.obolibrary.org/obo/NCBITaxon_3977 Euphorbiaceae http://purl.obolibrary.org/obo/DOID_5601 obsolete T-cell neoplasm http://purl.obolibrary.org/obo/DOID_5609 obsolete congenital adrenal gland disorder http://purl.obolibrary.org/obo/DOID_5611 obsolete anaplastic intraspinal meningioma http://purl.obolibrary.org/obo/DOID_0080876 IDH-wildtype anaplastic astrocytoma http://purl.obolibrary.org/obo/DOID_3078 anaplastic astrocytoma An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. http://purl.obolibrary.org/obo/DOID_12003 trachea squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_4876 trachea carcinoma A squamous cell carcinoma that is located_in the trachea. http://purl.obolibrary.org/obo/DOID_12028 Conn's syndrome http://purl.obolibrary.org/obo/DOID_656 adrenal adenoma An adrenal adenoma characterized by the over production of aldosterone. http://purl.obolibrary.org/obo/NCBITaxon_40355 Fonsecaea pedrosoi http://purl.obolibrary.org/obo/NCBITaxon_40354 Fonsecaea http://purl.obolibrary.org/obo/DOID_5613 obsolete anaplastic meningioma http://purl.obolibrary.org/obo/DOID_5616 obsolete intraepithelial neoplasm http://purl.obolibrary.org/obo/DOID_0080877 astrocytoma, IDH-mutant, grade 4 http://purl.obolibrary.org/obo/DOID_0080875 IDH-mutant anaplastic astrocytoma An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. http://purl.obolibrary.org/obo/DOID_12029 sympathetic ophthalmia http://purl.obolibrary.org/obo/DOID_12030 panuveitis A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia. http://purl.obolibrary.org/obo/NCBITaxon_86057 Fonsecaea compacta http://purl.obolibrary.org/obo/NCBITaxon_40354 Fonsecaea http://purl.obolibrary.org/obo/DOID_5622 obsolete Major puerperal infectious disease http://purl.obolibrary.org/obo/DOID_0080878 IDH-wildtype glioblastoma http://purl.obolibrary.org/obo/DOID_3068 glioblastoma A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. http://purl.obolibrary.org/obo/DOID_12030 panuveitis http://purl.obolibrary.org/obo/DOID_13141 uveitis An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid. http://purl.obolibrary.org/obo/DOID_1205 allergic disease http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. http://purl.obolibrary.org/obo/NCBITaxon_28843 Diphyllobothriidae http://purl.obolibrary.org/obo/NCBITaxon_1224679 Diphyllobothriidea http://purl.obolibrary.org/obo/DOID_563 obsolete primary Fusobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0080879 histone mutated tumor http://purl.obolibrary.org/obo/DOID_3070 high grade glioma A high grade glioma that has_material_basis_in mutations in the genes encoding histones. http://purl.obolibrary.org/obo/DOID_12053 cryptococcosis http://purl.obolibrary.org/obo/DOID_2473 opportunistic mycosis An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. http://purl.obolibrary.org/obo/NCBITaxon_121739 Lacazia http://purl.obolibrary.org/obo/NCBITaxon_1593277 Onygenales incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_3052225 Henipavirus nipahense http://purl.obolibrary.org/obo/NCBITaxon_260964 Henipavirus http://purl.obolibrary.org/obo/NCBITaxon_2267273 Dibothriocephalus http://purl.obolibrary.org/obo/NCBITaxon_28843 Diphyllobothriidae http://purl.obolibrary.org/obo/DOID_5633 obsolete visual pathway meningioma http://purl.obolibrary.org/obo/DOID_0080880 diffuse glioma, H3 G34 mutant http://purl.obolibrary.org/obo/DOID_0080879 histone mutated tumor A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. http://purl.obolibrary.org/obo/DOID_1206 Rett syndrome http://purl.obolibrary.org/obo/DOID_0060040 pervasive developmental disorder A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/DOID_5649 obsolete solid carcinoma http://purl.obolibrary.org/obo/DOID_0080881 pleomorphic xanthoastrocytoma BRAF mutant http://purl.obolibrary.org/obo/DOID_0080854 anaplastic pleomorphic xanthoastrocytoma An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. http://purl.obolibrary.org/obo/DOID_1209 nutritional optic neuropathy http://purl.obolibrary.org/obo/DOID_1210 optic neuritis An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse. http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinomycetota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/DOID_5652 obsolete metaplastic carcinoma http://purl.obolibrary.org/obo/NCBITaxon_544448 Mycoplasmatota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/DOID_0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma http://purl.obolibrary.org/obo/DOID_7154 anaplastic oligodendroglioma An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). http://purl.obolibrary.org/obo/DOID_12096 sodoku disease http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. http://purl.obolibrary.org/obo/DOID_5663 obsolete helicobacter pylori-related carcinoma http://purl.obolibrary.org/obo/NCBITaxon_3980 Hevea http://purl.obolibrary.org/obo/NCBITaxon_235882 Micrandreae http://purl.obolibrary.org/obo/NCBITaxon_7160 Aedes albopictus http://purl.obolibrary.org/obo/NCBITaxon_53541 Stegomyia http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia. http://purl.obolibrary.org/obo/DOID_121 vaginal disease http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is located_in the vagina. http://purl.obolibrary.org/obo/DOID_5687 obsolete flat adenoma syndrome http://purl.obolibrary.org/obo/NCBITaxon_5741 Giardia duodenalis http://purl.obolibrary.org/obo/NCBITaxon_5740 Giardia http://purl.obolibrary.org/obo/DOID_0080884 vitamin D-dependent rickets type 2A http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. http://purl.obolibrary.org/obo/DOID_1210 optic neuritis http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. http://purl.obolibrary.org/obo/DOID_12117 pulmonary alveolar microlithiasis http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs. http://purl.obolibrary.org/obo/DOID_5707 obsolete liposarcoma nonmetastatic http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/NCBITaxon_147100 Rhabditophora http://purl.obolibrary.org/obo/DOID_0080885 vitamin D-dependent rickets type 2B http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. http://purl.obolibrary.org/obo/DOID_0080886 vitamin D-dependent rickets type 1A http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_12118 pulmonary hemosiderosis http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. http://purl.obolibrary.org/obo/DOID_5708 obsolete liposarcoma metastatic http://purl.obolibrary.org/obo/NCBITaxon_147572 Piedraia http://purl.obolibrary.org/obo/NCBITaxon_147571 Piedraiaceae http://purl.obolibrary.org/obo/DOID_0080887 vitamin D-dependent rickets type 1B http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_12119 hemosiderosis http://purl.obolibrary.org/obo/DOID_2351 iron metabolism disease An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. http://purl.obolibrary.org/obo/DOID_5709 obsolete mixed-type liposarcoma http://purl.obolibrary.org/obo/NCBITaxon_147573 Piedraia hortae http://purl.obolibrary.org/obo/NCBITaxon_147572 Piedraia http://purl.obolibrary.org/obo/DOID_0080888 spinal ependymoma, MYCN-amplified http://purl.obolibrary.org/obo/DOID_5503 spinal cord ependymoma A spinal cord ependymoma that is characterized by MYCN amplification. http://purl.obolibrary.org/obo/DOID_12120 pulmonary alveolar proteinosis http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. http://purl.obolibrary.org/obo/DOID_5710 obsolete liposarcoma recurrent http://purl.obolibrary.org/obo/NCBITaxon_85819 Phthiraptera http://purl.obolibrary.org/obo/NCBITaxon_160148 Troctomorpha http://purl.obolibrary.org/obo/DOID_0080889 posterior fossa ependymoma http://purl.obolibrary.org/obo/DOID_5074 high grade ependymoma A high grade ependymoma that is located within the posterior fossa. http://purl.obolibrary.org/obo/DOID_12124 episcleritis periodica fugax http://purl.obolibrary.org/obo/DOID_11343 scleral disease A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate. http://purl.obolibrary.org/obo/DOID_12128 pica disease http://purl.obolibrary.org/obo/DOID_8670 eating disorder An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. http://purl.obolibrary.org/obo/DOID_5717 obsolete recurrent pituitary tumor http://purl.obolibrary.org/obo/NCBITaxon_6312 Angiostrongylus http://purl.obolibrary.org/obo/NCBITaxon_55271 Metastrongylidae http://purl.obolibrary.org/obo/NCBITaxon_5039 Blastomyces dermatitidis http://purl.obolibrary.org/obo/NCBITaxon_229219 Blastomyces http://purl.obolibrary.org/obo/DOID_0080890 supratentorial ependymoma http://purl.obolibrary.org/obo/DOID_5074 high grade ependymoma A high grade ependymoma that is located within the supratentorial brain. http://purl.obolibrary.org/obo/DOID_12129 bulimia nervosa http://purl.obolibrary.org/obo/DOID_8670 eating disorder An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. http://purl.obolibrary.org/obo/DOID_5720 obsolete neuroblastomas of the adrenal gland and sympathetic nervous system http://purl.obolibrary.org/obo/NCBITaxon_2060905 Blastomyces parvus http://purl.obolibrary.org/obo/NCBITaxon_229219 Blastomyces http://purl.obolibrary.org/obo/DOID_0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma http://purl.obolibrary.org/obo/DOID_0080890 supratentorial ependymoma A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. http://purl.obolibrary.org/obo/DOID_12132 granulomatosis with polyangiitis http://purl.obolibrary.org/obo/DOID_850 lung disease An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. http://purl.obolibrary.org/obo/DOID_5738 obsolete secondary myelofibrosis http://purl.obolibrary.org/obo/NCBITaxon_2682482 Mastigamoebida http://purl.obolibrary.org/obo/NCBITaxon_555406 Archamoebae http://purl.obolibrary.org/obo/DOID_0080892 RELA fusion-positive ependymoma http://purl.obolibrary.org/obo/DOID_0080890 supratentorial ependymoma A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. http://purl.obolibrary.org/obo/DOID_12134 factor VIII deficiency http://purl.obolibrary.org/obo/DOID_0061030 hemophilia A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. http://purl.obolibrary.org/obo/DOID_5765 obsolete primary ectopic meningioma http://purl.obolibrary.org/obo/NCBITaxon_1714621 Borna disease virus 1 http://purl.obolibrary.org/obo/NCBITaxon_1714619 Orthobornavirus bornaense http://purl.obolibrary.org/obo/DOID_0080893 Bainbridge-Ropers syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_12139 dysthymic disorder http://purl.obolibrary.org/obo/DOID_3324 mood disorder A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. http://purl.obolibrary.org/obo/DOID_5770 obsolete Mycobacterium avium-intracellulare lymphadenitis http://purl.obolibrary.org/obo/DOID_12140 Chagas disease http://purl.obolibrary.org/obo/DOID_10113 trypanosomiasis A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. http://purl.obolibrary.org/obo/NCBITaxon_181550 Trichomonadidae http://purl.obolibrary.org/obo/NCBITaxon_37104 Trichomonadida http://purl.obolibrary.org/obo/DOID_0080894 lipofibromatosis-like neural tumor http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. http://purl.obolibrary.org/obo/DOID_5771 obsolete Mycobacterium avium complex lymphadenitis http://purl.obolibrary.org/obo/DOID_12148 alveolar echinococcosis http://purl.obolibrary.org/obo/DOID_936 brain disease An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. http://purl.obolibrary.org/obo/NCBITaxon_79923 Clonorchis sinensis http://purl.obolibrary.org/obo/NCBITaxon_79922 Clonorchis http://purl.obolibrary.org/obo/DOID_0080895 rapidly involuting congenital hemangioma http://purl.obolibrary.org/obo/DOID_255 hemangioma A hemangioma that is characterized by complete regression. http://purl.obolibrary.org/obo/DOID_578 obsolete urination disorder http://purl.obolibrary.org/obo/DOID_12155 lymphocytic choriomeningitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in lymphocytic choriomeningitis virus (Mammarenavirus choriomeningitidis), which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting. http://purl.obolibrary.org/obo/NCBITaxon_235882 Micrandreae http://purl.obolibrary.org/obo/NCBITaxon_235631 Crotonoideae http://purl.obolibrary.org/obo/DOID_0080896 pericytoma with t(7;12) http://purl.obolibrary.org/obo/DOID_3316 perivascular tumor A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. http://purl.obolibrary.org/obo/DOID_5785 obsolete recurrent hepatoblastoma http://purl.obolibrary.org/obo/DOID_12157 aseptic meningitis http://purl.obolibrary.org/obo/DOID_9471 meningitis A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses. http://purl.obolibrary.org/obo/NCBITaxon_91943 Hortaea werneckii http://purl.obolibrary.org/obo/NCBITaxon_91942 Hortaea http://purl.obolibrary.org/obo/DOID_0080897 solitary fibrous tumor/hemangiopericytoma http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. http://purl.obolibrary.org/obo/DOID_5786 obsolete recurrent childhood cancer of liver http://purl.obolibrary.org/obo/DOID_12169 carpal tunnel syndrome http://purl.obolibrary.org/obo/DOID_573 nerve compression syndrome A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. http://purl.obolibrary.org/obo/NCBITaxon_5740 Giardia http://purl.obolibrary.org/obo/NCBITaxon_68459 Giardiinae http://purl.obolibrary.org/obo/DOID_0080898 cerebellofaciodental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_5790 obsolete resectable hepatoblastoma http://purl.obolibrary.org/obo/DOID_1217 fascioloidiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. http://purl.obolibrary.org/obo/NCBITaxon_6333 Trichinella http://purl.obolibrary.org/obo/NCBITaxon_6332 Trichinellidae http://purl.obolibrary.org/obo/DOID_0070375 developmental and epileptic encephalopathy 64 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_5792 obsolete hepatoblastoma with pure fetal epithelial differentiation http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. http://purl.obolibrary.org/obo/FOODON_00002319 trout food product http://purl.obolibrary.org/obo/FOODON_00001623 atlantic salmon and trout food product http://purl.obolibrary.org/obo/DOID_0070364 bradyopsia 2 http://purl.obolibrary.org/obo/DOID_0050335 bradyopsia A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_5796 obsolete nonresectable hepatoblastoma http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens. http://purl.obolibrary.org/obo/FOODON_00001705 leaf celery food product http://purl.obolibrary.org/obo/FOODON_00001704 celery food product http://purl.obolibrary.org/obo/DOID_0070366 nevoid basal cell carcinoma syndrome 2 http://purl.obolibrary.org/obo/DOID_2512 nevoid basal cell carcinoma syndrome A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_5797 obsolete mixed hepatoblastoma with teratoid features http://purl.obolibrary.org/obo/DOID_12179 tinea corporis http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. http://purl.obolibrary.org/obo/FOODON_00002239 shrimp food product http://purl.obolibrary.org/obo/FOODON_00001792 crustacean food product http://purl.obolibrary.org/obo/DOID_0070367 leukoencephalopathy with vanishing white matter 5 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_5802 obsolete hepatoblastoma with combined fetal epithelial differentiation http://purl.obolibrary.org/obo/DOID_1218 echinostomiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. http://purl.obolibrary.org/obo/FOODON_00002244 snail food product http://purl.obolibrary.org/obo/FOODON_00002044 mollusc food product http://purl.obolibrary.org/obo/DOID_0070371 leukoencephalopathy with vanishing white matter 4 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_581 obsolete gouty nephropathy http://purl.obolibrary.org/obo/DOID_12185 otosclerosis http://purl.obolibrary.org/obo/DOID_2952 inner ear disease An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. http://purl.obolibrary.org/obo/FOODON_00002185 rainbow trout food product http://purl.obolibrary.org/obo/FOODON_00002075 pacific salmon food product http://purl.obolibrary.org/obo/DOID_0070372 leukoencephalopathy with vanishing white matter 3 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_5818 obsolete ALPS-associated lymphoma http://purl.obolibrary.org/obo/DOID_1219 dicrocoeliasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. http://purl.obolibrary.org/obo/FOODON_00001164 tomato food product http://purl.obolibrary.org/obo/FOODON_00001163 solanaceous fruit food product http://purl.obolibrary.org/obo/DOID_0070373 leukoencephalopathy with vanishing white matter 2 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_5819 obsolete localized lymphoma http://purl.obolibrary.org/obo/DOID_12205 dengue disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding. http://purl.obolibrary.org/obo/FOODON_00001704 celery food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_0070376 developmental and epileptic encephalopathy 31B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0070396 progressive leukoencephalopathy with ovarian failure http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_5832 obsolete metastatic endometrioid carcinoma http://purl.obolibrary.org/obo/DOID_12206 dengue hemorrhagic fever http://purl.obolibrary.org/obo/DOID_12205 dengue disease A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified. http://purl.obolibrary.org/obo/FOODON_00001623 atlantic salmon and trout food product http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/DOID_0070424 combined oxidative phosphorylation deficiency 44 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_5857 obsolete secondary chondrosarcoma http://purl.obolibrary.org/obo/DOID_12211 filarial elephantiasis http://purl.obolibrary.org/obo/DOID_37 skin disease A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. http://purl.obolibrary.org/obo/FOODON_00002075 pacific salmon food product http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/DOID_0070425 combined oxidative phosphorylation deficiency 52 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_5863 obsolete recurrent chondrosarcoma http://purl.obolibrary.org/obo/DOID_12215 oligohydramnios http://purl.obolibrary.org/obo/DOID_780 placenta disease A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. http://purl.obolibrary.org/obo/FOODON_00001615 apricot food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_0070426 combined oxidative phosphorylation deficiency 53 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_5865 obsolete metastatic chondrosarcoma http://purl.obolibrary.org/obo/DOID_12217 Lewy body dementia http://purl.obolibrary.org/obo/DOID_1307 dementia A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies. http://purl.obolibrary.org/obo/FOODON_00001717 cherry food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_0070427 combined oxidative phosphorylation deficiency 54 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_5872 obsolete placental necrosis http://purl.obolibrary.org/obo/DOID_1222 cartilage disease http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that is located_in cartilage. http://purl.obolibrary.org/obo/FOODON_00002095 peach food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_0070428 combined oxidative phosphorylation deficiency 55 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_5886 obsolete mixed embryonal carcinoma and teratoma with seminoma of the testis http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. http://purl.obolibrary.org/obo/FOODON_00002161 plum fruit food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_0070429 combined oxidative phosphorylation deficiency 56 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_5888 obsolete congenital cystic kidney disease http://purl.obolibrary.org/obo/DOID_12237 bile reflux http://purl.obolibrary.org/obo/DOID_9741 biliary tract disease A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus. http://purl.obolibrary.org/obo/NCBITaxon_2704949 Trypanosomatida http://purl.obolibrary.org/obo/NCBITaxon_2704647 Metakinetoplastina http://purl.obolibrary.org/obo/DOID_0070430 combined oxidative phosphorylation deficiency 57 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. http://purl.obolibrary.org/obo/DOID_5918 obsolete localized unresectable adult primary liver cancer http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia http://purl.obolibrary.org/obo/DOID_10241 thalassemia A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. http://purl.obolibrary.org/obo/DOID_12259 hemophilia B http://purl.obolibrary.org/obo/DOID_0061030 hemophilia A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. http://purl.obolibrary.org/obo/DOID_12270 coloboma http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. http://purl.obolibrary.org/obo/NCBITaxon_5654 Trypanosomatidae http://purl.obolibrary.org/obo/NCBITaxon_2704949 Trypanosomatida http://purl.obolibrary.org/obo/NCBITaxon_11020 Barmah Forest virus http://purl.obolibrary.org/obo/NCBITaxon_3426294 Alphavirus barmah http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. http://purl.obolibrary.org/obo/DOID_5919 obsolete localized unresectable adult primary hepatoma http://purl.obolibrary.org/obo/DOID_12271 aniridia http://purl.obolibrary.org/obo/DOID_240 iris disease An iris disease that is characterized by a complete or partial absence of the colored part of the eye. http://purl.obolibrary.org/obo/NCBITaxon_11021 Eastern equine encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3426299 Alphavirus eastern http://purl.obolibrary.org/obo/DOID_0070432 hyperphosphatasia with impaired intellectual development syndrome 5 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_5920 obsolete malignant fibrous histiocytoma metastatic http://purl.obolibrary.org/obo/DOID_12275 cutaneous diphtheria http://purl.obolibrary.org/obo/DOID_4223 pyoderma A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. http://purl.obolibrary.org/obo/NCBITaxon_11029 Ross River virus http://purl.obolibrary.org/obo/NCBITaxon_3426314 Alphavirus rossriver http://purl.obolibrary.org/obo/DOID_0070433 hyperphosphatasia with impaired intellectual development syndrome 1 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_5924 obsolete recurrent extrahepatic bile duct cancer http://purl.obolibrary.org/obo/DOID_12287 Crimean-Congo hemorrhagic fever http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. http://purl.obolibrary.org/obo/NCBITaxon_11039 Western equine encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3426323 Alphavirus western http://purl.obolibrary.org/obo/DOID_0070434 hyperphosphatasia with impaired intellectual development syndrome 2 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_5928 obsolete autosomal recessive polycystic kidney http://purl.obolibrary.org/obo/DOID_1229 paranoid schizophrenia http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. http://purl.obolibrary.org/obo/NCBITaxon_11617 Arenaviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/NCBITaxon_1980415 Nairoviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/DOID_0070435 hyperphosphatasia with impaired intellectual development syndrome 3 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_5931 obsolete unresectable extrahepatic bile duct cancer http://purl.obolibrary.org/obo/DOID_12294 atypical depressive disorder http://purl.obolibrary.org/obo/DOID_3324 mood disorder A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. http://purl.obolibrary.org/obo/NCBITaxon_1980418 Phenuiviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/DOID_0070436 hyperphosphatasia with impaired intellectual development syndrome 4 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_5933 obsolete resectable bile duct cancer http://purl.obolibrary.org/obo/DOID_12297 Vogt-Koyanagi-Harada disease http://purl.obolibrary.org/obo/DOID_0060039 autoimmune disease of skin and connective tissue An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. http://purl.obolibrary.org/obo/NCBITaxon_12092 Hepatovirus A http://purl.obolibrary.org/obo/NCBITaxon_3407641 Hepatovirus ahepa http://purl.obolibrary.org/obo/DOID_0070437 hyperphosphatasia with impaired intellectual development syndrome 6 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_5934 obsolete localized extrahepatic bile duct cancer http://purl.obolibrary.org/obo/DOID_12306 vitiligo http://purl.obolibrary.org/obo/DOID_0060039 autoimmune disease of skin and connective tissue An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. http://purl.obolibrary.org/obo/DOID_12308 Dubin-Johnson syndrome http://purl.obolibrary.org/obo/DOID_2741 bilirubin metabolic disorder A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. http://purl.obolibrary.org/obo/NCBITaxon_1335626 Middle East respiratory syndrome-related coronavirus http://purl.obolibrary.org/obo/NCBITaxon_3433633 Betacoronavirus cameli http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy http://purl.obolibrary.org/obo/DOID_4448 macular degeneration A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. http://purl.obolibrary.org/obo/DOID_5937 obsolete autosomal dominant polycystic kidney http://purl.obolibrary.org/obo/DOID_12318 granular corneal dystrophy http://purl.obolibrary.org/obo/DOID_0060441 epithelial-stromal TGFBI dystrophy An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea. http://purl.obolibrary.org/obo/NCBITaxon_138948 Enterovirus A http://purl.obolibrary.org/obo/NCBITaxon_3428500 Enterovirus alphacoxsackie http://purl.obolibrary.org/obo/DOID_0070439 North Carolina macular dystrophy http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. http://purl.obolibrary.org/obo/DOID_5941 obsolete lung carcinoma metastatic to the brain http://purl.obolibrary.org/obo/DOID_12323 cough variant asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath. http://purl.obolibrary.org/obo/NCBITaxon_138949 Enterovirus B http://purl.obolibrary.org/obo/NCBITaxon_3428502 Enterovirus betacoxsackie http://purl.obolibrary.org/obo/DOID_0070440 retinal macular dystrophy 3 http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1. http://purl.obolibrary.org/obo/DOID_5963 obsolete schistosoma hematobium-related bladder squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_12328 marasmus http://purl.obolibrary.org/obo/DOID_11801 protein-energy malnutrition A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation. http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/NCBITaxon_3428505 Enterovirus coxsackiepol http://purl.obolibrary.org/obo/DOID_0070441 retinal macular dystrophy 4 http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_5980 obsolete hemispheric anaplastic astrocytoma http://purl.obolibrary.org/obo/DOID_1234 gender incongruence http://purl.obolibrary.org/obo/DOID_0060043 sexual health disorder A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. http://purl.obolibrary.org/obo/NCBITaxon_138951 Enterovirus D http://purl.obolibrary.org/obo/NCBITaxon_3428506 Enterovirus deconjuncti http://purl.obolibrary.org/obo/NCBITaxon_194440 Primate T-lymphotropic virus 1 http://purl.obolibrary.org/obo/NCBITaxon_3428212 Deltaretrovirus priTlym1 http://purl.obolibrary.org/obo/DOID_0070442 paroxysmal nonkinesigenic dyskinesia 3 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_5981 obsolete hamartoma of hypothalamus http://purl.obolibrary.org/obo/DOID_12341 retroperitoneal sarcoma http://purl.obolibrary.org/obo/DOID_5875 retroperitoneal cancer A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. http://purl.obolibrary.org/obo/NCBITaxon_2169701 Onyong-nyong virus http://purl.obolibrary.org/obo/NCBITaxon_3426312 Alphavirus onyong http://purl.obolibrary.org/obo/DOID_0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. http://purl.obolibrary.org/obo/DOID_5989 obsolete clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres http://purl.obolibrary.org/obo/DOID_12347 osteogenesis imperfecta http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. http://purl.obolibrary.org/obo/DOID_12357 viral labyrinthitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. http://purl.obolibrary.org/obo/DOID_12358 patulous eustachian tube http://purl.obolibrary.org/obo/DOID_9739 eustachian tube disease A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. http://purl.obolibrary.org/obo/NCBITaxon_694009 Severe acute respiratory syndrome-related coronavirus http://purl.obolibrary.org/obo/NCBITaxon_3418604 Betacoronavirus pandemicum http://purl.obolibrary.org/obo/DOID_0070444 neurodevelopmental disorder with language delay and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_5991 obsolete early onset breast ovarian cancer syndrome http://purl.obolibrary.org/obo/DOID_12361 Graves' disease http://purl.obolibrary.org/obo/DOID_0060005 autoimmune disease of endocrine system An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. http://purl.obolibrary.org/obo/NCBITaxon_2697049 Severe acute respiratory syndrome coronavirus 2 http://purl.obolibrary.org/obo/NCBITaxon_3418604 Betacoronavirus pandemicum http://purl.obolibrary.org/obo/DOID_0070445 early-onset dystonia and/or spastic paraplegia http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/DOID_5996 obsolete blunt duct adenosis of breast http://purl.obolibrary.org/obo/DOID_6013 obsolete mediastinum embryonal carcinoma http://purl.obolibrary.org/obo/DOID_12365 malaria http://purl.obolibrary.org/obo/DOID_2789 parasitic protozoa infectious disease A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. http://purl.obolibrary.org/obo/NCBITaxon_2732559 Rowavirales http://purl.obolibrary.org/obo/NCBITaxon_3412727 Pharingeaviricetes http://purl.obolibrary.org/obo/DOID_0070446 mitochondrial DNA depletion syndrome 16 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/DOID_6014 obsolete mediastinal germ cell cancer http://purl.obolibrary.org/obo/DOID_12369 prolapse of urethra http://purl.obolibrary.org/obo/DOID_732 urethral disease A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening. http://purl.obolibrary.org/obo/NCBITaxon_2748762 Colorado tick fever coltivirus http://purl.obolibrary.org/obo/NCBITaxon_3428066 Coltivirus dermacentoris http://purl.obolibrary.org/obo/DOID_0070447 mitochondrial DNA depletion syndrome 16B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0070448 mitochondrial DNA depletion syndrome 17 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. http://purl.obolibrary.org/obo/DOID_6020 obsolete metastatic MPNST http://purl.obolibrary.org/obo/DOID_6021 obsolete malignant testicular Leydig cell tumor http://purl.obolibrary.org/obo/DOID_12375 bronchopneumonia http://purl.obolibrary.org/obo/DOID_552 pneumonia A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. http://purl.obolibrary.org/obo/NCBITaxon_3412727 Pharingeaviricetes http://purl.obolibrary.org/obo/NCBITaxon_3412694 Polisuviricotina http://purl.obolibrary.org/obo/DOID_0070449 mitochondrial DNA depletion syndrome 18 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. http://purl.obolibrary.org/obo/DOID_0070450 mitochondrial DNA depletion syndrome 19 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_6022 obsolete central nervous system melanoma http://purl.obolibrary.org/obo/DOID_12376 juvenile spinal muscular atrophy http://purl.obolibrary.org/obo/DOID_0060160 childhood spinal muscular atrophy A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. http://purl.obolibrary.org/obo/NCBITaxon_37124 Chikungunya virus http://purl.obolibrary.org/obo/NCBITaxon_3426298 Alphavirus chikungunya http://purl.obolibrary.org/obo/DOID_0070451 mitochondrial DNA depletion syndrome 20 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0081352 congenital myopathy 20 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. http://purl.obolibrary.org/obo/DOID_6023 obsolete metastasis to the parathyroid gland http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy http://purl.obolibrary.org/obo/DOID_231 motor neuron disease A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. http://purl.obolibrary.org/obo/DOID_12384 dysentery http://purl.obolibrary.org/obo/DOID_100 intestinal infectious disease An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. http://purl.obolibrary.org/obo/DOID_12385 shigellosis http://purl.obolibrary.org/obo/DOID_5353 colonic disease A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. http://purl.obolibrary.org/obo/DOID_12386 balantidiasis http://purl.obolibrary.org/obo/DOID_2789 parasitic protozoa infectious disease A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. http://purl.obolibrary.org/obo/DOID_12387 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/DOID_9409 diabetes insipidus A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/DOID_0081353 congenital myopathy 21 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_6031 obsolete disseminated squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_6055 obsolete paranasal sinus Schneiderian papilloma http://purl.obolibrary.org/obo/DOID_6071 obsolete resectable duodenal carcinoma http://purl.obolibrary.org/obo/DOID_6077 obsolete localized malignant mesothelioma http://purl.obolibrary.org/obo/DOID_12388 neurohypophyseal diabetes insipidus http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13. http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/DOID_0081354 congenital myopathy 22A http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. http://purl.obolibrary.org/obo/DOID_6078 obsolete secondary malignant neoplasm to the nervous system http://purl.obolibrary.org/obo/DOID_12399 pathological gambling http://purl.obolibrary.org/obo/DOID_10937 impulse control disorder An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. http://purl.obolibrary.org/obo/SO_0002245 five_prime_duplicated_transcript http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/DOID_0081355 congenital myopathy 22B http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_6079 obsolete drop secondary malignant neoplasm to the spinal cord http://purl.obolibrary.org/obo/DOID_1240 leukemia http://purl.obolibrary.org/obo/DOID_2531 hematologic cancer A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. http://purl.obolibrary.org/obo/SO_0002246 three_prime_duplicated_transcript http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/DOID_0081359 epidermolytic hyperkeratosis 2 http://purl.obolibrary.org/obo/DOID_4603 epidermolytic hyperkeratosis An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_6080 obsolete spinal cord secondary cancer http://purl.obolibrary.org/obo/DOID_12400 kleptomania http://purl.obolibrary.org/obo/DOID_10937 impulse control disorder An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. http://purl.obolibrary.org/obo/NCBITaxon_10359 Human betaherpesvirus 5 http://purl.obolibrary.org/obo/NCBITaxon_3050295 Cytomegalovirus humanbeta5 http://purl.obolibrary.org/obo/DOID_0081370 LADD syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. http://purl.obolibrary.org/obo/DOID_6081 obsolete childhood testicular endodermal sinus neoplasm http://purl.obolibrary.org/obo/DOID_12401 intermittent explosive disorder http://purl.obolibrary.org/obo/DOID_10937 impulse control disorder An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. http://purl.obolibrary.org/obo/NCBITaxon_10372 Human betaherpesvirus 7 http://purl.obolibrary.org/obo/NCBITaxon_3050298 Roseolovirus humanbeta7 http://purl.obolibrary.org/obo/NCBITaxon_10376 human gammaherpesvirus 4 http://purl.obolibrary.org/obo/NCBITaxon_3050299 Lymphocryptovirus humangamma4 http://purl.obolibrary.org/obo/DOID_0081371 lacrimoauriculodentodigital syndrome 2 http://purl.obolibrary.org/obo/DOID_0081370 LADD syndrome A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. http://purl.obolibrary.org/obo/DOID_6087 obsolete predominant disturbance of emotions http://purl.obolibrary.org/obo/DOID_12402 pyromania http://purl.obolibrary.org/obo/DOID_10937 impulse control disorder An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/DOID_0081372 lacrimoauriculodentodigital syndrome 3 http://purl.obolibrary.org/obo/DOID_0081370 LADD syndrome A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. http://purl.obolibrary.org/obo/DOID_609 obsolete skin abnormality http://purl.obolibrary.org/obo/DOID_12403 tinea pedis http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. http://purl.obolibrary.org/obo/SYMP_0000585 sleep related movement disorder http://purl.obolibrary.org/obo/SYMP_0000566 sleep disturbance http://purl.obolibrary.org/obo/DOID_0060946 Ullrich congenital muscular dystrophy 1A http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_6091 obsolete ampulla of vater intestinal type adenocarcinoma http://purl.obolibrary.org/obo/DOID_1242 globe disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that involves the globe of the eye. http://purl.obolibrary.org/obo/SO_0001260 sequence_collection http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_0081450 hyperimmunoglobulinemia D periodic fever syndrome http://purl.obolibrary.org/obo/DOID_2959 hyperimmunoglobulin syndrome A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_6104 obsolete mixed embryonal carcinoma and teratoma of the mediastinum http://purl.obolibrary.org/obo/DOID_1243 labia minora cancer http://purl.obolibrary.org/obo/DOID_4159 skin cancer A vulva cancer that is located_in the labium minora. http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_0081451 PFAPA syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. http://purl.obolibrary.org/obo/DOID_6105 obsolete mediastinum malignant teratoma http://purl.obolibrary.org/obo/DOID_12449 aplastic anemia http://purl.obolibrary.org/obo/DOID_720 normocytic anemia A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_0060942 Ullrich congenital muscular dystrophy 1B http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_6107 obsolete mediastinal mixed non-seminomatous germ cell tumor http://purl.obolibrary.org/obo/DOID_1245 vulva cancer http://purl.obolibrary.org/obo/DOID_2059 vulvar disease A female reproductive organ cancer that is located_in the vulva. http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_0060943 Ullrich congenital muscular dystrophy 1C http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_6108 obsolete mesenchymal hamartoma of the liver http://purl.obolibrary.org/obo/DOID_12450 pancytopenia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets. http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/DOID_0060947 autosomal recessive intellectual developmental disorder 82 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. http://purl.obolibrary.org/obo/DOID_6109 obsolete hepatic and intrahepatic bile duct non-epithelial neoplasm http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. http://purl.obolibrary.org/obo/GENO_0000149 X-linked recessive inheritance http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/DOID_0081449 cone-rod dystrophy 24 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_611 obsolete leukocyte-adhesion deficiency syndrome http://purl.obolibrary.org/obo/DOID_12474 capillariasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_707 B-cell lymphoma A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters. http://purl.obolibrary.org/obo/DOID_6111 obsolete jugular foramen neoplasm http://purl.obolibrary.org/obo/DOID_12475 pes anserinus bursitis http://purl.obolibrary.org/obo/DOID_2965 bursitis A bursitis that is characterized by inflammation of the bursal sac beneath the pes anserinus, resulting in: medial knee pain. http://purl.obolibrary.org/obo/HP_0032252 Granuloma http://purl.obolibrary.org/obo/HP_0032251 Abnormal immune system morphology http://purl.obolibrary.org/obo/DOID_0070544 congenital glutamine deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/DOID_613 obsolete T lymphocyte deficiency http://purl.obolibrary.org/obo/DOID_125 vagina leiomyoma http://purl.obolibrary.org/obo/DOID_127 leiomyoma A vaginal benign neoplasm that is a benign tumor of smooth muscle cells. http://purl.obolibrary.org/obo/DOID_12506 Bell's palsy http://purl.obolibrary.org/obo/DOID_13934 facial paralysis A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). http://purl.obolibrary.org/obo/HP_0033095 Increased sulfur amino acid level in urine http://purl.obolibrary.org/obo/HP_0033100 Increased proteinogenic amino acid level in urine http://purl.obolibrary.org/obo/DOID_0070550 KRT1-related nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050428 nonepidermolytic palmoplantar keratoderma A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_6174 obsolete sporadic conventional renal cell carcinoma http://purl.obolibrary.org/obo/DOID_1251 tuberculous epididymitis http://purl.obolibrary.org/obo/DOID_0080373 epididymis disease An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/DOID_0070547 primary pigmented nodular adrenocortical disease 2 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2. http://purl.obolibrary.org/obo/DOID_6178 obsolete metastatic ovarian small cell carcinoma with hypercalcemia http://purl.obolibrary.org/obo/DOID_12510 retinal ischemia http://purl.obolibrary.org/obo/DOID_326 ischemia An ischemia that is characterized by restriction in blood supply to the retina. http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/DOID_0060971 interstitial lung disease 2 http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_6184 obsolete squamous cell carcinoma of unknown primary http://purl.obolibrary.org/obo/DOID_1252 trichuriasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. http://purl.obolibrary.org/obo/FOODON_00002487 jujube fruit (raw) http://purl.obolibrary.org/obo/FOODON_00003652 jujube fruit http://purl.obolibrary.org/obo/DOID_0070584 spermatogenic failure 85 http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia A spermatogenic failure characterized by globozoospermia and reduced progressive motility that has_material_basis_in homozygous mutation in the SPACA1 gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_619 obsolete lymphoproliferative disease http://purl.obolibrary.org/obo/DOID_12522 bagassosis http://purl.obolibrary.org/obo/DOID_841 extrinsic allergic alveolitis An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. http://purl.obolibrary.org/obo/NCBITaxon_11084 Tick-borne encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3052465 Orthoflavivirus encephalitidis http://purl.obolibrary.org/obo/DOID_0070605 autosomal dominant nonsyndromic deafness 85 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_6200 obsolete recurrent malignant pericardial mesothelioma http://purl.obolibrary.org/obo/DOID_12531 von Willebrand's disease http://purl.obolibrary.org/obo/DOID_0061030 hemophilia A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. http://purl.obolibrary.org/obo/NCBITaxon_11080 St. Louis encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3052468 Orthoflavivirus louisense http://purl.obolibrary.org/obo/DOID_0070616 glycine encephalopathy 1 http://purl.obolibrary.org/obo/DOID_9268 glycine encephalopathy A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_6202 obsolete mesothelioma malignant recurrent http://purl.obolibrary.org/obo/DOID_1254 trichostrongylosis http://purl.obolibrary.org/obo/DOID_1255 trichostrongyloidiasis A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. http://purl.obolibrary.org/obo/NCBITaxon_11588 Rift Valley fever virus http://purl.obolibrary.org/obo/NCBITaxon_3052676 Phlebovirus riftense http://purl.obolibrary.org/obo/DOID_0051002 congenital dyserythropoietic anemia type IVb http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. http://purl.obolibrary.org/obo/DOID_0061146 Pan-Chung-Bellen syndrome http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11. http://purl.obolibrary.org/obo/DOID_6213 obsolete ovarian serous tumor http://purl.obolibrary.org/obo/DOID_12549 hepatitis A http://purl.obolibrary.org/obo/DOID_1884 viral hepatitis A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. http://purl.obolibrary.org/obo/NCBITaxon_12637 Dengue virus http://purl.obolibrary.org/obo/NCBITaxon_3052464 Orthoflavivirus denguei http://purl.obolibrary.org/obo/FOODON_00001165 solanaceous food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/CHEBI_30785 methylmercury(.) http://purl.obolibrary.org/obo/CHEBI_64909 poison A poison that is methylmercury. http://purl.obolibrary.org/obo/DOID_6240 obsolete transitional cell intraepithelial neoplasm http://purl.obolibrary.org/obo/DOID_1255 trichostrongyloidiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. http://purl.obolibrary.org/obo/FOODON_00001175 plant stem food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/FOODON_00001242 spice or herb http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/CHEBI_35446 chlorobiphenyl http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor A chloroarene that consists of a biphenyl skeleton substituted by one or more chloro groups. http://purl.obolibrary.org/obo/NCBITaxon_6954 Dermatophagoides farinae http://purl.obolibrary.org/obo/CHEBI_50904 allergen An allergen that is an American house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home. http://purl.obolibrary.org/obo/DOID_6246 obsolete oncocytic neoplasm http://purl.obolibrary.org/obo/DOID_12554 hemolytic-uremic syndrome http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/FOODON_00001262 botanical fruit food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/NCBITaxon_6956 Dermatophagoides pteronyssinus http://purl.obolibrary.org/obo/CHEBI_50904 allergen An allergen that is an European house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home. http://purl.obolibrary.org/obo/SYMP_0000729 pulmonary consolidation http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a region of normally compressible lung tissue that has filled with liquid instead of air. http://purl.obolibrary.org/obo/DOID_625 obsolete transient hypogammaglobulinemia http://purl.obolibrary.org/obo/DOID_12556 acute kidney tubular necrosis http://purl.obolibrary.org/obo/DOID_3021 acute kidney failure An acute kidney failure that is characterized by necrosis of epithelial tubule cells. http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/DOID_0060886 osteopathia striata with cranial sclerosis http://purl.obolibrary.org/obo/DOID_4254 osteosclerosis An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. http://purl.obolibrary.org/obo/DOID_6268 obsolete recurrent extraskeletal chondrosarcoma http://purl.obolibrary.org/obo/DOID_12557 Duane retraction syndrome http://purl.obolibrary.org/obo/DOID_540 strabismus A strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. http://purl.obolibrary.org/obo/FOODON_00002141 plant fruit as vegetable food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_0060887 ossification of the posterior longitudinal ligament of spine http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. http://purl.obolibrary.org/obo/DOID_6273 obsolete metastasis to pituitary gland http://purl.obolibrary.org/obo/DOID_6277 obsolete ACTH-producing pituitary tumor http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia http://purl.obolibrary.org/obo/DOID_699 mitochondrial myopathy A mitochondrial myopathy characterized by weakness of extraocular muscles, usually evident from bilateral ptosis and/or ophthalmoplegia, that has_material_basis_in mitochondrial DNA deletions. http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/DOID_2226 myeloproliferative neoplasm A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. http://purl.obolibrary.org/obo/DOID_0060889 prune belly syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. http://purl.obolibrary.org/obo/DOID_6287 obsolete recurrent pediatric cerebellar astrocytoma http://purl.obolibrary.org/obo/DOID_12559 idiopathic juvenile osteoporosis http://purl.obolibrary.org/obo/DOID_11476 osteoporosis An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. http://purl.obolibrary.org/obo/FOODON_00003652 jujube fruit http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_0060890 ectopic Cushing syndrome http://purl.obolibrary.org/obo/DOID_446 primary hyperaldosteronism A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. http://purl.obolibrary.org/obo/DOID_6288 obsolete recurrent childhood brain tumor http://purl.obolibrary.org/obo/DOID_12566 ulceration of vulva http://purl.obolibrary.org/obo/DOID_2059 vulvar disease A vulvar disease that is characterized by the presence of ulcers. http://purl.obolibrary.org/obo/FOODON_00001150 cucurbit fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_0060891 Parkinson's disease 19A http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_629 obsolete congenital disorder of natural immunity http://purl.obolibrary.org/obo/DOID_12568 dyscalculia http://purl.obolibrary.org/obo/DOID_8927 learning disability A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. http://purl.obolibrary.org/obo/FOODON_00001151 citrus fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/FOODON_00001158 pomaceous fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease http://purl.obolibrary.org/obo/DOID_14330 Parkinson's disease A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. http://purl.obolibrary.org/obo/DOID_6292 obsolete intracranial lipoma http://purl.obolibrary.org/obo/DOID_12570 phacolytic glaucoma http://purl.obolibrary.org/obo/DOID_12571 phacogenic glaucoma A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins. http://purl.obolibrary.org/obo/DOID_12571 phacogenic glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss. http://purl.obolibrary.org/obo/DOID_12580 Cri-Du-Chat syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. http://purl.obolibrary.org/obo/DOID_12581 olecranon bursitis http://purl.obolibrary.org/obo/DOID_2965 bursitis A bursitis that is characterized by an inflammation of the bursa, located at the tip of the elbow (olecranon process). http://purl.obolibrary.org/obo/DOID_12583 velocardiofacial syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. http://purl.obolibrary.org/obo/FOODON_00001163 solanaceous fruit food product http://purl.obolibrary.org/obo/FOODON_00001165 solanaceous food product http://purl.obolibrary.org/obo/DOID_0060893 juvenile-onset Parkinson's disease http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. http://purl.obolibrary.org/obo/DOID_6301 obsolete prostate basal cell carcinoma http://purl.obolibrary.org/obo/DOID_12594 Potter's syndrome http://purl.obolibrary.org/obo/DOID_14766 renal agenesis A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus. http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease http://purl.obolibrary.org/obo/DOID_14330 Parkinson's disease A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. http://purl.obolibrary.org/obo/DOID_0060895 Parkinson's disease 4 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_6308 obsolete metastatic transitional cell cancer of the renal pelvis and ureter http://purl.obolibrary.org/obo/DOID_12603 acute leukemia http://purl.obolibrary.org/obo/DOID_1037 lymphoid leukemia A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream. http://purl.obolibrary.org/obo/FOODON_00001251 avian food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/DOID_0060896 Parkinson's disease 23 http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. http://purl.obolibrary.org/obo/DOID_6327 obsolete ovarian dermoid cyst with adenocarcinoma http://purl.obolibrary.org/obo/DOID_12637 perineocele http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse. http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/FOODON_00001274 egg food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/DOID_0060897 Parkinson's disease 17 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. http://purl.obolibrary.org/obo/DOID_6328 obsolete ovarian dermoid cyst with secondary carcinoma http://purl.obolibrary.org/obo/DOID_12638 hypertrophic pyloric stenosis http://purl.obolibrary.org/obo/DOID_12639 pyloric stenosis A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. http://purl.obolibrary.org/obo/FOODON_00001275 chicken egg food product http://purl.obolibrary.org/obo/FOODON_00001105 avian egg food product http://purl.obolibrary.org/obo/DOID_0060898 Parkinson's disease 20 http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0060900 Parkinson's disease 14 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0080174 bladder exstrophy http://purl.obolibrary.org/obo/DOID_0080173 bladder exstrophy-epispadias-cloacal exstrophy complex A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. http://purl.obolibrary.org/obo/DOID_6329 obsolete ovarian dermoid cyst with secondary tumor http://purl.obolibrary.org/obo/DOID_12662 paracoccidioidomycosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. http://purl.obolibrary.org/obo/DOID_12663 blastomycosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. http://purl.obolibrary.org/obo/FOODON_00001109 caprine dairy food product http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/DOID_0080175 cloacal exstrophy http://purl.obolibrary.org/obo/DOID_0080173 bladder exstrophy-epispadias-cloacal exstrophy complex A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. http://purl.obolibrary.org/obo/DOID_6338 obsolete testicular tumor of the thecoma fibroma group http://purl.obolibrary.org/obo/DOID_12680 pseudobulbar palsy http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts. http://purl.obolibrary.org/obo/FOODON_00001118 cattle dairy food product http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/DOID_0080176 meningococcal meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. http://purl.obolibrary.org/obo/DOID_6361 obsolete renal cell carcinoma with constitutional chromosome 3 translocations http://purl.obolibrary.org/obo/DOID_12683 vestibular neuronitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. http://purl.obolibrary.org/obo/FOODON_00001771 cow milk based food product http://purl.obolibrary.org/obo/FOODON_00001257 milk or milk based food product http://purl.obolibrary.org/obo/DOID_0080177 hepatic veno-occlusive disease http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. http://purl.obolibrary.org/obo/DOID_0080178 mucositis http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. http://purl.obolibrary.org/obo/DOID_637 obsolete metabolic brain disease http://purl.obolibrary.org/obo/DOID_12685 mixed receptive-expressive language disorder http://purl.obolibrary.org/obo/DOID_2033 communication disorder A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. http://purl.obolibrary.org/obo/FOODON_00002029 melon food product http://purl.obolibrary.org/obo/FOODON_00001150 cucurbit fruit food product http://purl.obolibrary.org/obo/DOID_638 obsolete demyelinating disease of central nervous system http://purl.obolibrary.org/obo/DOID_12697 locked-in syndrome http://purl.obolibrary.org/obo/DOID_863 nervous system disease A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. http://purl.obolibrary.org/obo/DOID_0080179 haemophilus meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. http://purl.obolibrary.org/obo/FOODON_00002071 orange food product http://purl.obolibrary.org/obo/FOODON_00001151 citrus fruit food product http://purl.obolibrary.org/obo/DOID_12698 gynecomastia http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. http://purl.obolibrary.org/obo/DOID_6382 obsolete recurrent childhood glioma of brain stem http://purl.obolibrary.org/obo/FOODON_00001611 apple food product http://purl.obolibrary.org/obo/FOODON_00001158 pomaceous fruit food product http://purl.obolibrary.org/obo/DOID_0090001 Fraser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. http://purl.obolibrary.org/obo/FOODON_00002156 plant stem or spear food product http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/DOID_127 leiomyoma http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A cell type benign neoplasm that is a benign tumor of smooth muscle cells. http://purl.obolibrary.org/obo/DOID_6384 obsolete recurrent childhood central nervous system tumor http://purl.obolibrary.org/obo/DOID_0090002 Tietz syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/FOODON_00001242 spice or herb http://purl.obolibrary.org/obo/DOID_1270 hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. http://purl.obolibrary.org/obo/DOID_6385 obsolete recurrent childhood brainstem astrocytoma http://purl.obolibrary.org/obo/DOID_12700 hyperprolactinemia http://purl.obolibrary.org/obo/DOID_0060158 acquired metabolic disease An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. http://purl.obolibrary.org/obo/DOID_0090003 agenesis of the corpus callosum with peripheral neuropathy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. http://purl.obolibrary.org/obo/FOODON_00001684 carp food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/DOID_64 obsolete epithelial tissue disease http://purl.obolibrary.org/obo/DOID_12704 ataxia telangiectasia http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. http://purl.obolibrary.org/obo/DOID_0090004 progressive pseudorheumatoid arthropathy of childhood http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. http://purl.obolibrary.org/obo/FOODON_00001750 cod food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/DOID_641 obsolete CNS demyelinating autoimmune disease http://purl.obolibrary.org/obo/DOID_1271 capillary disease http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is located_in the capillaries. http://purl.obolibrary.org/obo/DOID_0090005 Schwartz-Jampel syndrome 1 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/FOODON_00001105 avian egg food product http://purl.obolibrary.org/obo/FOODON_00001274 egg food product http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/DOID_642 obsolete demyelinating encephalopathy http://purl.obolibrary.org/obo/DOID_12711 black piedra http://purl.obolibrary.org/obo/DOID_0050133 superficial mycosis A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. http://purl.obolibrary.org/obo/DOID_0090006 renal coloboma syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. http://purl.obolibrary.org/obo/FOODON_00001257 milk or milk based food product http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/DOID_6424 obsolete pediatric CNS teratoma http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/DOID_644 obsolete leukoencephalopathy http://purl.obolibrary.org/obo/DOID_12714 Ellis-Van Creveld syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. http://purl.obolibrary.org/obo/DOID_0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. http://purl.obolibrary.org/obo/DOID_0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. http://purl.obolibrary.org/obo/FOODON_00001264 legume food product http://purl.obolibrary.org/obo/FOODON_00001262 botanical fruit food product http://purl.obolibrary.org/obo/DOID_6447 obsolete ceruminous tumor http://purl.obolibrary.org/obo/DOID_12716 newborn respiratory distress syndrome http://purl.obolibrary.org/obo/DOID_11162 respiratory failure A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. http://purl.obolibrary.org/obo/DOID_0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. http://purl.obolibrary.org/obo/FOODON_00001792 crustacean food product http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/DOID_0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. http://purl.obolibrary.org/obo/DOID_6467 obsolete bone recurrent Ewing's sarcoma http://purl.obolibrary.org/obo/DOID_12718 chronic gonococcal salpingitis http://purl.obolibrary.org/obo/DOID_5731 chronic salpingitis A chronic salpingitis that is caused by gonorrhea. http://purl.obolibrary.org/obo/FOODON_00002044 mollusc food product http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/DOID_0090012 severe combined immunodeficiency with sensitivity to ionizing radiation http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. http://purl.obolibrary.org/obo/DOID_6488 obsolete metastatic tumor to the iris http://purl.obolibrary.org/obo/DOID_12720 cerebral atherosclerosis http://purl.obolibrary.org/obo/DOID_1936 atherosclerosis An atherosclerosis of the cerebral vasculature. http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/DOID_0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. http://purl.obolibrary.org/obo/DOID_6506 obsolete anaplastic seminoma http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. http://purl.obolibrary.org/obo/NCBITaxon_2720872 Fumigati http://purl.obolibrary.org/obo/NCBITaxon_5052 Aspergillus http://purl.obolibrary.org/obo/DOID_0090014 severe combined immunodeficiency 104 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13. http://purl.obolibrary.org/obo/DOID_652 obsolete congenital musculoskeletal abnormality http://purl.obolibrary.org/obo/DOID_1273 respiratory syncytial virus infectious disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. http://purl.obolibrary.org/obo/NCBITaxon_2790996 Mycoplasmoidales http://purl.obolibrary.org/obo/NCBITaxon_544448 Mycoplasmatota http://purl.obolibrary.org/obo/DOID_12735 hernia of ovary and fallopian tube http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall. http://purl.obolibrary.org/obo/DOID_0090015 Cenani-Lenz syndactyly syndrome http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_6532 obsolete monomorphic B-cell PTLD http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/DOID_12750 cyclosporiasis http://purl.obolibrary.org/obo/DOID_2113 coccidiosis A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. http://purl.obolibrary.org/obo/DOID_0090016 chromosome 5q deletion syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. http://purl.obolibrary.org/obo/DOID_6533 obsolete monomorphic PTLD http://purl.obolibrary.org/obo/NCBITaxon_37104 Trichomonadida http://purl.obolibrary.org/obo/NCBITaxon_5719 Parabasalia http://purl.obolibrary.org/obo/DOID_12783 migraine without aura http://purl.obolibrary.org/obo/DOID_6364 migraine A migraine that is characterized by migraine headaches that are not accompanied by an aura. http://purl.obolibrary.org/obo/DOID_0090017 epidermolysis bullosa simplex with muscular dystrophy http://purl.obolibrary.org/obo/DOID_225 syndrome An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_6535 obsolete plasma cell PTLD http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/DOID_12797 hallucinogen abuse http://purl.obolibrary.org/obo/DOID_302 substance abuse A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. http://purl.obolibrary.org/obo/DOID_0090018 TNF receptor–associated periodic syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_6540 obsolete transient organic mental disorder http://purl.obolibrary.org/obo/SO_0001785 structural_alteration http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. http://purl.obolibrary.org/obo/DOID_0090019 sitosterolemia http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia. http://purl.obolibrary.org/obo/DOID_6544 obsolete atypical meningioma http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/DOID_12799 mucopolysaccharidosis II http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. http://purl.obolibrary.org/obo/DOID_6545 obsolete adult atypical meningioma http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/DOID_12800 mucopolysaccharidosis VI http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. http://purl.obolibrary.org/obo/DOID_0090021 split hand-foot malformation 1 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. http://purl.obolibrary.org/obo/DOID_6546 obsolete secondary cardiac lymphoma http://purl.obolibrary.org/obo/SO_0002162 short_tandem_repeat_expansion http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/DOID_12801 mucopolysaccharidosis III http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. http://purl.obolibrary.org/obo/DOID_0090022 split hand-foot malformation 5 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. http://purl.obolibrary.org/obo/DOID_6549 obsolete schistosoma hematobium-related bladder verrucous squamous cell carcinoma http://purl.obolibrary.org/obo/SO_0002163 short_tandem_repeat_contraction http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/SO_0002165 trinucleotide_repeat_expansion http://purl.obolibrary.org/obo/SO_0002162 short_tandem_repeat_expansion http://purl.obolibrary.org/obo/DOID_12802 mucopolysaccharidosis I http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. http://purl.obolibrary.org/obo/DOID_0090023 split hand-foot malformation 4 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. http://purl.obolibrary.org/obo/DOID_6556 obsolete hamartoma of Spinal Cord http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/DOID_12803 mucopolysaccharidosis type VII http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. http://purl.obolibrary.org/obo/DOID_0090024 split hand-foot malformation 1 with sensorineural hearing loss http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_6563 obsolete metastatic testicular cancer http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/DOID_12804 mucopolysaccharidosis IV http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. http://purl.obolibrary.org/obo/DOID_0090025 split hand-foot malformation 3 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0090026 split hand-foot malformation 6 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_6573 obsolete recurrent adult brain tumor http://purl.obolibrary.org/obo/NCBITaxon_61462 Gnathostomatoidea http://purl.obolibrary.org/obo/NCBITaxon_2072717 Gnathostomatomorpha http://purl.obolibrary.org/obo/DOID_1283 enterocele http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall. http://purl.obolibrary.org/obo/DOID_0090027 split hand-foot malformation 2 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. http://purl.obolibrary.org/obo/DOID_6574 obsolete Borderline malignancy papillary mucinous cystadenoma http://purl.obolibrary.org/obo/NCBITaxon_2082224 Strongyloidoidea http://purl.obolibrary.org/obo/NCBITaxon_2082223 Panagrolaimomorpha http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening. http://purl.obolibrary.org/obo/DOID_0090028 familial isolated deficiency of vitamin E http://purl.obolibrary.org/obo/DOID_0050718 vitamin metabolic disorder A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. http://purl.obolibrary.org/obo/DOID_6577 obsolete ovarian dermoid cyst with sebaceous adenoma http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/DOID_12841 ancylostomiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. http://purl.obolibrary.org/obo/DOID_0090029 CINCA Syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. http://purl.obolibrary.org/obo/DOID_6578 obsolete ovarian dermoid cyst with secondary sebaceous tumor http://purl.obolibrary.org/obo/GENO_0000148 autosomal recessive inheritance http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/DOID_12842 Guillain-Barre syndrome http://purl.obolibrary.org/obo/DOID_0060033 autoimmune disease of peripheral nervous system An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_6602 obsolete recurrent malignant peritoneal mesothelioma http://purl.obolibrary.org/obo/FOODON_00001811 dill food product http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/DOID_0090030 corticosteroid-binding globulin deficiency http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_12849 autistic disorder http://purl.obolibrary.org/obo/DOID_0060041 autism spectrum disorder An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. http://purl.obolibrary.org/obo/FOODON_00002084 parsley food product http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/DOID_6604 obsolete spondylosis and allied disorder http://purl.obolibrary.org/obo/DOID_6609 obsolete basaloid squamous cell carcinoma of the head and neck http://purl.obolibrary.org/obo/DOID_0090031 D-bifunctional protein deficiency http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. http://purl.obolibrary.org/obo/DOID_0090032 Silverman-Handmaker type dyssegmental dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_12857 retrocalcaneal bursitis http://purl.obolibrary.org/obo/DOID_2965 bursitis A bursitis that is characterized by an inflammation of the bursa, a fluid-filled sac that cushions the Achilles tendon where it attaches to the heel bone (calcaneus). http://purl.obolibrary.org/obo/GENO_0000970 chromosomal deletion inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/DOID_6618 obsolete unknown primary adenocarcinoma http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life. http://purl.obolibrary.org/obo/DOID_0090034 myoclonic dystonia 11 http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_12858 Huntington's disease http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. http://purl.obolibrary.org/obo/GENO_0000971 chromosomal duplication inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/DOID_6628 obsolete malignant neoplasm of nipple http://purl.obolibrary.org/obo/DOID_0090035 myoclonic dystonia 15 http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11. http://purl.obolibrary.org/obo/DOID_12859 choreatic disease http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. http://purl.obolibrary.org/obo/GENO_0000972 chromosomal rearrangement inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/DOID_6630 obsolete ovarian dermoid cyst with secondary sarcoma http://purl.obolibrary.org/obo/DOID_0090036 myoclonic dystonia 26 http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_1287 cardiovascular system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/DOID_6631 obsolete ovarian dermoid cyst with leiomyosarcoma http://purl.obolibrary.org/obo/DOID_0090037 torsion dystonia 13 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13. http://purl.obolibrary.org/obo/DOID_12883 hypochondriasis http://purl.obolibrary.org/obo/DOID_4737 somatoform disorder A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/DOID_6632 obsolete ovarian dermoid cyst with angiosarcoma http://purl.obolibrary.org/obo/DOID_0090038 torsion dystonia 2 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. http://purl.obolibrary.org/obo/DOID_12889 Miller Fisher syndrome http://purl.obolibrary.org/obo/DOID_12842 Guillain-Barre syndrome A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. http://purl.obolibrary.org/obo/NCBITaxon_543769 Rhizaria http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/DOID_6663 obsolete papillotubular adenocarcinoma http://purl.obolibrary.org/obo/DOID_0090039 torsion dystonia 6 http://purl.obolibrary.org/obo/DOID_0050835 generalized dystonia A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that results in the progressive deterioration of function or structure of neurons. http://purl.obolibrary.org/obo/DOID_12894 Sjogren's syndrome http://purl.obolibrary.org/obo/DOID_0060029 autoimmune disease of exocrine system An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. http://purl.obolibrary.org/obo/DOID_12900 Mikulicz disease http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection. http://purl.obolibrary.org/obo/NCBITaxon_746128 Aspergillus fumigatus http://purl.obolibrary.org/obo/NCBITaxon_2720872 Fumigati http://purl.obolibrary.org/obo/DOID_6667 obsolete regressing nevus http://purl.obolibrary.org/obo/DOID_6675 obsolete menopausal syndrome http://purl.obolibrary.org/obo/DOID_0090040 torsion dystonia 7 http://purl.obolibrary.org/obo/DOID_0050836 focal dystonia A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p. http://purl.obolibrary.org/obo/DOID_12919 Plasmodium ovale malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. http://purl.obolibrary.org/obo/NCBITaxon_452563 Cladosporiaceae http://purl.obolibrary.org/obo/NCBITaxon_2726946 Cladosporiales http://purl.obolibrary.org/obo/DOID_6681 obsolete diffuse leiomyomatosis syndrome http://purl.obolibrary.org/obo/DOID_0090041 torsion dystonia 4 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_12926 hypodermyiasis http://purl.obolibrary.org/obo/DOID_11080 myiasis A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. http://purl.obolibrary.org/obo/NCBITaxon_668547 Teratosphaeriaceae http://purl.obolibrary.org/obo/NCBITaxon_2726947 Mycosphaerellales http://purl.obolibrary.org/obo/DOID_6689 obsolete adherence syndrome http://purl.obolibrary.org/obo/DOID_0090042 torsion dystonia 17 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. http://purl.obolibrary.org/obo/DOID_12927 screw worm infectious disease http://purl.obolibrary.org/obo/DOID_11080 myiasis A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. http://purl.obolibrary.org/obo/SYMP_0000592 excessive crying of infant http://purl.obolibrary.org/obo/SYMP_0000411 infant symptom http://purl.obolibrary.org/obo/DOID_6690 obsolete acroparesthesia syndrome http://purl.obolibrary.org/obo/DOID_0090043 dopa-responsive dystonia http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_67 obsolete neural tissue disease http://purl.obolibrary.org/obo/DOID_12929 endocardial fibroelastosis http://purl.obolibrary.org/obo/DOID_0050825 endocardium disease An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. http://purl.obolibrary.org/obo/NCBITaxon_333750 Alphapapillomavirus http://purl.obolibrary.org/obo/NCBITaxon_2169595 Firstpapillomavirinae http://purl.obolibrary.org/obo/DOID_0090044 dystonia 9 http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_6702 obsolete recurrent stomach cancer http://purl.obolibrary.org/obo/DOID_1293 labia minora carcinoma http://purl.obolibrary.org/obo/DOID_1294 vulva carcinoma A vulva carcinoma that is located_in the labia minora. http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/DOID_0090045 glucose transporter type 1 deficiency syndrome 2 http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_6704 obsolete anaplastic gastric carcinoma http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/DOID_0090046 dystonia 21 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3. http://purl.obolibrary.org/obo/DOID_6708 obsolete recurrent ovarian epithelial cancer http://purl.obolibrary.org/obo/DOID_12934 Kearns-Sayre syndrome http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and one or more of heart block, cerebellar ataxia, or a cerebrospinal fluid protein level above 100 mg/dl, that has_material_basis_in deletion of mitochondrial DNA. Onset is before 20 years of age. http://purl.obolibrary.org/obo/SO_0001773 lethal_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/DOID_0090047 paroxysmal nonkinesigenic dyskinesia 2 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31. http://purl.obolibrary.org/obo/DOID_6710 obsolete metastatic anal cancer http://purl.obolibrary.org/obo/DOID_1294 vulva carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/SO_0001786 loss_of_heterozygosity http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/DOID_6714 obsolete circumscribed storiform collagenoma http://purl.obolibrary.org/obo/DOID_0090048 dystonia 16 http://purl.obolibrary.org/obo/DOID_0050837 multifocal dystonia A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_12960 acrocephalosyndactylia http://purl.obolibrary.org/obo/DOID_11971 synostosis A synostosis that results_in craniosynostosis and syndactyly. http://purl.obolibrary.org/obo/SO_0002052 dominant_negative_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/DOID_6715 obsolete collagen nevus of skin http://purl.obolibrary.org/obo/SO_0002053 gain_of_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/DOID_0090049 paroxysmal nonkinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_12961 Poland syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. http://purl.obolibrary.org/obo/DOID_6716 obsolete eruptive collagenoma http://purl.obolibrary.org/obo/SO_0002054 loss_of_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/DOID_12965 subleukemic leukemia http://purl.obolibrary.org/obo/DOID_1240 leukemia A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. http://purl.obolibrary.org/obo/DOID_0090050 dystonia 27 http://purl.obolibrary.org/obo/DOID_0050838 segmental dystonia A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_6728 obsolete recurrent pediatric optic nerve astrocytoma http://purl.obolibrary.org/obo/SO_0002055 null_mutation http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/DOID_12969 central nervous system leukemia http://purl.obolibrary.org/obo/DOID_5772 central nervous system hematologic cancer A leukemia located_in the central nervous system. http://purl.obolibrary.org/obo/DOID_0090051 dystonia 23 http://purl.obolibrary.org/obo/DOID_0050836 focal dystonia A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_6729 obsolete recurrent pediatric optic nerve glioma http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. http://purl.obolibrary.org/obo/DOID_0090052 dystonia 24 http://purl.obolibrary.org/obo/DOID_0050836 focal dystonia A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. http://purl.obolibrary.org/obo/DOID_6730 obsolete recurrent childhood optic tract astrocytoma http://purl.obolibrary.org/obo/NCBITaxon_11286 Lyssavirus http://purl.obolibrary.org/obo/NCBITaxon_2842407 Alpharhabdovirinae http://purl.obolibrary.org/obo/DOID_12978 Plasmodium vivax malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. http://purl.obolibrary.org/obo/DOID_0090053 episodic kinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_6731 obsolete recurrent glioma of childhood visual pathway http://purl.obolibrary.org/obo/NCBITaxon_2790998 Mycoplasmoidaceae http://purl.obolibrary.org/obo/NCBITaxon_2790996 Mycoplasmoidales http://purl.obolibrary.org/obo/DOID_12987 agranulocytosis http://purl.obolibrary.org/obo/DOID_615 leukopenia A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. http://purl.obolibrary.org/obo/DOID_0090054 episodic kinesigenic dyskinesia 2 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. http://purl.obolibrary.org/obo/DOID_6750 obsolete malignant fibrous histiocytoma recurrent http://purl.obolibrary.org/obo/NCBITaxon_3471199 Ribozyviria incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_2842242 Ribozyviria http://purl.obolibrary.org/obo/DOID_12995 conduct disorder http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. http://purl.obolibrary.org/obo/DOID_0090055 dystonia 25 http://purl.obolibrary.org/obo/DOID_0050837 multifocal dystonia A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_6761 obsolete skin lymphoma http://purl.obolibrary.org/obo/NCBITaxon_39759 Deltavirus http://purl.obolibrary.org/obo/NCBITaxon_2842321 Kolmioviridae http://purl.obolibrary.org/obo/DOID_13026 lobomycosis http://purl.obolibrary.org/obo/DOID_1563 dermatomycosis A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions. http://purl.obolibrary.org/obo/DOID_0090056 dystonia 12 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_6764 obsolete peripheral neuroblastoma http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/NCBITaxon_6236 Rhabditida http://purl.obolibrary.org/obo/DOID_13027 transient global amnesia http://purl.obolibrary.org/obo/DOID_10914 amnestic disorder An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. http://purl.obolibrary.org/obo/DOID_0090057 X-linked dystonia-parkinsonism http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_6778 obsolete renal pelvis and ureter localized transitional cell cancer http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/DOID_13034 relapsing fever http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. http://purl.obolibrary.org/obo/DOID_0090058 torsion dystonia with onset in infancy http://purl.obolibrary.org/obo/DOID_0050835 generalized dystonia A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. http://purl.obolibrary.org/obo/DOID_6784 obsolete pediatric desmoplastic small round cell tumor http://purl.obolibrary.org/obo/UBERON_0005913 zone of bone organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/DOID_13035 louse-borne relapsing fever http://purl.obolibrary.org/obo/DOID_13034 relapsing fever A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. http://purl.obolibrary.org/obo/DOID_0090059 enhanced S-cone syndrome http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration. http://purl.obolibrary.org/obo/DOID_6792 obsolete mixed endodermal sinus neoplasm and teratoma with seminoma of the testis http://purl.obolibrary.org/obo/UBERON_0034979 nonchromaffin paraganglion http://purl.obolibrary.org/obo/UBERON_0034978 paraganglion (generic) http://purl.obolibrary.org/obo/DOID_0090060 Wolcott-Rallison syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2. http://purl.obolibrary.org/obo/DOID_68 obsolete lymphomyeloid tissue disease http://purl.obolibrary.org/obo/DOID_13036 tick-borne relapsing fever http://purl.obolibrary.org/obo/DOID_13034 relapsing fever A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. http://purl.obolibrary.org/obo/SYMP_0020002 anal abscess http://purl.obolibrary.org/obo/SYMP_0000672 abscess http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. http://purl.obolibrary.org/obo/DOID_6802 obsolete relapsed precursor T lymphoblastic lymphoma/leukemia http://purl.obolibrary.org/obo/DOID_13046 acute sphenoidal sinusitis http://purl.obolibrary.org/obo/DOID_10794 sphenoid sinusitis A sphenoid sinusitis which lasts for less than 4 weeks. http://purl.obolibrary.org/obo/SYMP_0000723 multiple abscesses http://purl.obolibrary.org/obo/SYMP_0000672 abscess http://purl.obolibrary.org/obo/DOID_0090062 familial cold autoinflammatory syndrome 1 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. http://purl.obolibrary.org/obo/DOID_6807 obsolete hamartoma Moniliformis http://purl.obolibrary.org/obo/DOID_13050 corpus luteum cyst http://purl.obolibrary.org/obo/DOID_5119 ovarian cyst An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release. http://purl.obolibrary.org/obo/DOID_13060 traumatic glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation. http://purl.obolibrary.org/obo/NCBITaxon_10632 JC polyomavirus http://purl.obolibrary.org/obo/NCBITaxon_1891763 Betapolyomavirus secuhominis http://purl.obolibrary.org/obo/DOID_0090063 familial cold autoinflammatory syndrome 2 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_6808 obsolete Basaloid follicular hamartoma http://purl.obolibrary.org/obo/DOID_1307 dementia http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. http://purl.obolibrary.org/obo/NCBITaxon_11572 Orthobunyavirus http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/DOID_0090064 familial cold autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. http://purl.obolibrary.org/obo/DOID_6820 obsolete anaplastic childhood astrocytoma of brain http://purl.obolibrary.org/obo/DOID_13074 tinea unguium http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. http://purl.obolibrary.org/obo/NCBITaxon_11584 Phlebovirus http://purl.obolibrary.org/obo/NCBITaxon_1980418 Phenuiviridae http://purl.obolibrary.org/obo/DOID_0090065 familial cold autoinflammatory syndrome 4 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_6826 obsolete recurrent cancer of pancreas http://purl.obolibrary.org/obo/DOID_13078 eumycotic mycetoma http://purl.obolibrary.org/obo/DOID_1563 dermatomycosis A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules. http://purl.obolibrary.org/obo/NCBITaxon_1891762 Betapolyomavirus hominis http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/DOID_0090066 Fanconi-like syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. http://purl.obolibrary.org/obo/DOID_6828 obsolete non-resectable pancreatic carcinoma http://purl.obolibrary.org/obo/DOID_13080 Jaccoud's syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity. http://purl.obolibrary.org/obo/NCBITaxon_1891763 Betapolyomavirus secuhominis http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/DOID_0090067 Fuhrmann syndrome http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_6830 obsolete resectable pancreas carcinoma http://purl.obolibrary.org/obo/DOID_13087 Lown-Ganong-Levine syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. http://purl.obolibrary.org/obo/NCBITaxon_3052518 Orthonairovirus haemorrhagiae http://purl.obolibrary.org/obo/NCBITaxon_1980517 Orthonairovirus http://purl.obolibrary.org/obo/DOID_0090068 giant axonal neuropathy 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_6835 obsolete recurrent anal cancer http://purl.obolibrary.org/obo/DOID_13096 Sneddon syndrome http://purl.obolibrary.org/obo/DOID_0050828 artery disease An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. http://purl.obolibrary.org/obo/HP_0001880 Increased total eosinophil count http://purl.obolibrary.org/obo/HP_0020064 Abnormal total eosinophil count http://purl.obolibrary.org/obo/DOID_0090069 giant axonal neuropathy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_6840 obsolete glandular cell intraepithelial neoplasm http://purl.obolibrary.org/obo/HP_0032158 Unusual infection by anatomical site http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/DOID_0090071 hypogonadotropic hypogonadism 11 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_13098 central retinal artery occlusion http://purl.obolibrary.org/obo/DOID_8483 retinal artery occlusion A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. http://purl.obolibrary.org/obo/DOID_6850 obsolete hamartoma of Eccrine Sweat gland http://purl.obolibrary.org/obo/UBERON_0001982 capillary http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/DOID_0090072 hypogonadotropic hypogonadism 12 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_13099 Moyamoya disease http://purl.obolibrary.org/obo/DOID_3527 cerebral arterial disease A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. http://purl.obolibrary.org/obo/DOID_6851 obsolete Linear Eccrine nevus with Comedones http://purl.obolibrary.org/obo/HP_4000072 Abnormal language feature http://purl.obolibrary.org/obo/HP_0034434 Abnormal communication http://purl.obolibrary.org/obo/DOID_0090073 hypogonadotropic hypogonadism 13 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_13109 bladder leiomyoma http://purl.obolibrary.org/obo/DOID_127 leiomyoma A bladder benign neoplasm that derives_from smooth muscle cells. http://purl.obolibrary.org/obo/DOID_6852 obsolete eccrine angiomatous hamartoma http://purl.obolibrary.org/obo/NCBITaxon_1783257 PVC group http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/DOID_0090074 hypogonadotropic hypogonadism 8 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. http://purl.obolibrary.org/obo/DOID_13117 paronychia http://purl.obolibrary.org/obo/DOID_4123 nail disease A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. http://purl.obolibrary.org/obo/DOID_6860 obsolete Endobronchial hamartoma http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/DOID_0090075 hypogonadotropic hypogonadism 15 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_13120 protein-deficiency anemia http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by inadequate protein intake. http://purl.obolibrary.org/obo/DOID_6861 obsolete recurrent cancer of gallbladder http://purl.obolibrary.org/obo/NCBITaxon_203691 Spirochaetota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/DOID_0090076 hypogonadotropic hypogonadism 18 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. http://purl.obolibrary.org/obo/DOID_13129 severe pre-eclampsia http://purl.obolibrary.org/obo/DOID_10591 pre-eclampsia A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. http://purl.obolibrary.org/obo/DOID_6870 obsolete cockade nevus http://purl.obolibrary.org/obo/NCBITaxon_29547 Campylobacterota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/DOID_0090077 hypogonadotropic hypogonadism 4 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_13133 HELLP syndrome http://purl.obolibrary.org/obo/DOID_13129 severe pre-eclampsia A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. http://purl.obolibrary.org/obo/DOID_6874 obsolete type 1a ALPS http://purl.obolibrary.org/obo/NCBITaxon_573 Klebsiella pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_3390273 Klebsiella pneumoniae complex http://purl.obolibrary.org/obo/DOID_0090078 hypogonadotropic hypogonadism 7 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. http://purl.obolibrary.org/obo/DOID_13134 hordeolum externum http://purl.obolibrary.org/obo/DOID_9423 blepharitis A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. http://purl.obolibrary.org/obo/DOID_6876 obsolete mixed childhood rhabdomyosarcoma http://purl.obolibrary.org/obo/NCBITaxon_3407641 Hepatovirus ahepa http://purl.obolibrary.org/obo/NCBITaxon_3429217 Hepatovirus fejalco http://purl.obolibrary.org/obo/DOID_0090079 hypogonadotropic hypogonadism 17 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_13137 Werdnig-Hoffmann disease http://purl.obolibrary.org/obo/DOID_0060160 childhood spinal muscular atrophy A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_6879 obsolete hamartoma of Apocrine Sweat gland http://purl.obolibrary.org/obo/HP_0020350 Abnormal circulating vitamin concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/DOID_0090080 hypogonadotropic hypogonadism 16 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_13140 suppurative uveitis http://purl.obolibrary.org/obo/DOID_13141 uveitis A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically. http://purl.obolibrary.org/obo/DOID_6887 obsolete recurrent ureteric cancer http://purl.obolibrary.org/obo/HP_0430071 Abnormal circulating organic compound concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/DOID_0090081 hypogonadotropic hypogonadism 22 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31. http://purl.obolibrary.org/obo/DOID_13141 uveitis http://purl.obolibrary.org/obo/DOID_3480 uveal disease An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. http://purl.obolibrary.org/obo/DOID_6893 obsolete AIDS-related cervical cancer http://purl.obolibrary.org/obo/NCBITaxon_11118 Coronaviridae http://purl.obolibrary.org/obo/NCBITaxon_2499399 Cornidovirineae http://purl.obolibrary.org/obo/DOID_0090082 hypogonadotropic hypogonadism 20 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_13145 benign renovascular hypertension http://purl.obolibrary.org/obo/DOID_13143 benign secondary hypertension A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis. http://purl.obolibrary.org/obo/DOID_6894 obsolete AIDS-related cervical Kaposi's sarcoma http://purl.obolibrary.org/obo/NCBITaxon_11040 Rubivirus http://purl.obolibrary.org/obo/NCBITaxon_2560066 Matonaviridae http://purl.obolibrary.org/obo/DOID_0090083 hypogonadotropic hypogonadism 2 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. http://purl.obolibrary.org/obo/DOID_13146 esophageal candidiasis http://purl.obolibrary.org/obo/DOID_6050 esophageal disease A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. http://purl.obolibrary.org/obo/DOID_6897 obsolete Malposition and malpresentation of fetus http://purl.obolibrary.org/obo/MIM_621588 susceptibility to epidermodysplasia verruciformis 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090084 hypogonadotropic hypogonadism 5 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. http://purl.obolibrary.org/obo/DOID_13148 acute cystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis A cystitis characterized by a sudden onset or severe symptoms. http://purl.obolibrary.org/obo/DOID_69 obsolete hemopoetic tissue disease http://purl.obolibrary.org/obo/MIM_177900 susceptibility to psoriasis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090085 hypogonadotropic hypogonadism 9 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_0090086 hypogonadotropic hypogonadism 6 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_13159 scrotum squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_3445 scrotal carcinoma A squamous cell carcinoma that is located_in the scrotum. http://purl.obolibrary.org/obo/DOID_690 obsolete childhood cancer of liver http://purl.obolibrary.org/obo/MIM_601484 susceptibility to psoriasis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090087 hypogonadotropic hypogonadism 14 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_13166 allergic bronchopulmonary aspergillosis http://purl.obolibrary.org/obo/DOID_13564 aspergillosis An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever. http://purl.obolibrary.org/obo/DOID_6919 obsolete extramucosal (perianal) adenocarcinoma http://purl.obolibrary.org/obo/MIM_603935 susceptibility to psoriasis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_604316 susceptibility to psoriasis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090088 hypogonadotropic hypogonadism 24 without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. http://purl.obolibrary.org/obo/DOID_13189 gout http://purl.obolibrary.org/obo/DOID_848 arthritis An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. http://purl.obolibrary.org/obo/DOID_6923 obsolete fibrolipomatous hamartoma of peripheral nerve http://purl.obolibrary.org/obo/MIM_605364 susceptibility to psoriasis 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607857 susceptibility to psoriasis 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608391 susceptibility to autoimmune disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608392 susceptibility to autoimmune disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609400 susceptibility to autoimmune disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610707 susceptibility to psoriasis 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090089 hypogonadotropic hypogonadism 10 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_1319 brain cancer http://purl.obolibrary.org/obo/DOID_936 brain disease A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. http://purl.obolibrary.org/obo/DOID_6955 obsolete intracranial melanoma http://purl.obolibrary.org/obo/MIM_612410 susceptibility to psoriasis 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090090 hypogonadotropic hypogonadism 19 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_13198 endemic goiter http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency. http://purl.obolibrary.org/obo/DOID_13222 submucous uterine fibroid http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is located adjacent to the lining of the uterus. http://purl.obolibrary.org/obo/DOID_6956 obsolete malignant intracranial neoplasm By Morphology http://purl.obolibrary.org/obo/MIM_614070 susceptibility to psoriasis 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090091 hypogonadotropic hypogonadism 23 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid http://purl.obolibrary.org/obo/DOID_0060095 uterine benign neoplasm An uterine benign neoplasm derived from the smooth muscle layer of the uterus. http://purl.obolibrary.org/obo/DOID_6962 obsolete recurrent cancer of skin http://purl.obolibrary.org/obo/MIM_102300 susceptibility to restless legs syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090092 hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_13226 oculoglandular tularemia http://purl.obolibrary.org/obo/DOID_2123 tularemia A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. http://purl.obolibrary.org/obo/DOID_6980 obsolete recurrent rectosigmoid cancer http://purl.obolibrary.org/obo/MIM_106300 susceptibility to spondyloarthropathy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090093 hypogonadotropic hypogonadism 21 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_13238 Haverhill fever http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. http://purl.obolibrary.org/obo/DOID_6981 obsolete recurrent colorectal cancer http://purl.obolibrary.org/obo/MIM_125480 major affective disorder 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090094 hypogonadotropic hypogonadism 1 with or without anosmia http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_1324 lung cancer http://purl.obolibrary.org/obo/DOID_850 lung disease A respiratory system cancer that is located_in the lung. http://purl.obolibrary.org/obo/DOID_6989 obsolete non-neoplastic non-molar trophoblastic disorder http://purl.obolibrary.org/obo/MIM_126200 susceptibility to multiple sclerosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_127700 susceptibility to dyslexia 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0110712 Oguchi disease-1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_13241 Behcet's disease http://purl.obolibrary.org/obo/DOID_865 vasculitis An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes. http://purl.obolibrary.org/obo/DOID_6990 obsolete placental site nodule or plaque http://purl.obolibrary.org/obo/MIM_131200 susceptibility to endometriosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0110713 Oguchi disease-2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_1325 bronchus cancer http://purl.obolibrary.org/obo/DOID_1176 bronchial disease A respiratory system cancer that is located_in the bronchus. http://purl.obolibrary.org/obo/DOID_6991 obsolete exaggerated placental site http://purl.obolibrary.org/obo/MIM_133180 susceptibility to acute erythroid leukemia http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0110910 leukocyte adhesion deficiency 1 http://purl.obolibrary.org/obo/DOID_6612 leukocyte adhesion deficiency A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_13250 diarrhea http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. http://purl.obolibrary.org/obo/DOID_6995 obsolete metastasis to the kidney http://purl.obolibrary.org/obo/MIM_137800 glioma susceptibility 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0110912 leukocyte adhesion deficiency 3 http://purl.obolibrary.org/obo/DOID_6612 leukocyte adhesion deficiency A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_13254 diverticulitis of colon http://purl.obolibrary.org/obo/DOID_7475 diverticulitis A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. http://purl.obolibrary.org/obo/DOID_6999 obsolete lung recurrent squamous cell carcinoma http://purl.obolibrary.org/obo/MIM_140600 osteoarthritis susceptibility 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080342 Simpson-Golabi-Behmel syndrome type 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. http://purl.obolibrary.org/obo/DOID_13258 typhoid fever http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. http://purl.obolibrary.org/obo/DOID_70 obsolete lymphoid tissue disease http://purl.obolibrary.org/obo/MIM_142623 susceptibility to hirschsprung disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 http://purl.obolibrary.org/obo/DOID_8955 sideroblastic anemia A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_13268 porphyria http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. http://purl.obolibrary.org/obo/DOID_7001 obsolete recurrent large cell carcinoma of lung http://purl.obolibrary.org/obo/MIM_145600 susceptibility to malignant hyperthermia 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080344 blepharocheilodontic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. http://purl.obolibrary.org/obo/DOID_13270 erythropoietic protoporphyria http://purl.obolibrary.org/obo/DOID_3133 acute porphyria An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. http://purl.obolibrary.org/obo/DOID_13272 Klebsiella pneumonia http://purl.obolibrary.org/obo/DOID_874 bacterial pneumonia A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. http://purl.obolibrary.org/obo/DOID_7002 obsolete recurrent adenocarcinoma of lung http://purl.obolibrary.org/obo/MIM_146500 susceptibility to multiple system atrophy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080345 blepharocheilodontic syndrome 1 http://purl.obolibrary.org/obo/DOID_0080344 blepharocheilodontic syndrome A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_13276 Mycoplasma pneumoniae pneumonia http://purl.obolibrary.org/obo/DOID_874 bacterial pneumonia A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. http://purl.obolibrary.org/obo/DOID_7003 obsolete malignant vaginal mixed tumor resembling synovial sarcoma http://purl.obolibrary.org/obo/MIM_148000 susceptibility to kaposi sarcoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080346 blepharocheilodontic syndrome 2 http://purl.obolibrary.org/obo/DOID_0080344 blepharocheilodontic syndrome A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_1328 Rift Valley fever http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus (Phlebovirus riftense), which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. http://purl.obolibrary.org/obo/DOID_7006 obsolete childhood cerebral diffuse astrocytoma http://purl.obolibrary.org/obo/MIM_155600 susceptibility to cutaneous malignant melanoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080347 malignant pheochromocytoma http://purl.obolibrary.org/obo/DOID_5719 adrenal medulla cancer An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. http://purl.obolibrary.org/obo/DOID_13282 intestinal tuberculosis http://purl.obolibrary.org/obo/DOID_5295 intestinal disease A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. http://purl.obolibrary.org/obo/DOID_7009 obsolete adult diffuse astrocytoma http://purl.obolibrary.org/obo/MIM_155601 susceptibility to cutaneous malignant melanoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080348 Alzheimer's disease 1 http://purl.obolibrary.org/obo/DOID_10652 Alzheimer's disease An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. http://purl.obolibrary.org/obo/DOID_133 vaginal Mullerian papilloma http://purl.obolibrary.org/obo/DOID_0060114 vaginal benign neoplasm A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin. http://purl.obolibrary.org/obo/DOID_7011 obsolete recurrent thyroid carcinoma http://purl.obolibrary.org/obo/MIM_165720 osteoarthritis susceptibility 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080349 developmental and epileptic encephalopathy 39 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_13300 Scheuermann's disease http://purl.obolibrary.org/obo/DOID_8125 osteochondrosis An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. http://purl.obolibrary.org/obo/DOID_7012 obsolete anaplastic thyroid carcinoma http://purl.obolibrary.org/obo/MIM_166760 susceptibility to otitis media http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080350 retinitis pigmentosa 77 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13306 diphtheritic cystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. http://purl.obolibrary.org/obo/DOID_7015 obsolete deep fatty neoplasm http://purl.obolibrary.org/obo/MIM_181000 susceptibility to sarcoidosis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080351 CLOVES syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_13310 diphtheritic peritonitis http://purl.obolibrary.org/obo/DOID_8283 peritonitis A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. http://purl.obolibrary.org/obo/DOID_7018 obsolete secondary malignant neoplasm to the adult brain http://purl.obolibrary.org/obo/MIM_181800 susceptibility to isolated scoliosis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080603 ankylosing spondylitis 1 http://purl.obolibrary.org/obo/DOID_7147 ankylosing spondylitis A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3. http://purl.obolibrary.org/obo/DOID_13316 exocrine pancreatic insufficiency http://purl.obolibrary.org/obo/DOID_26 pancreas disease A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. http://purl.obolibrary.org/obo/DOID_702 obsolete tooth abnormality http://purl.obolibrary.org/obo/MIM_182940 susceptibility to neural tube defects http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080604 ankylosing spondylitis 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34. http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia http://purl.obolibrary.org/obo/DOID_9993 hypoglycemia A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. http://purl.obolibrary.org/obo/DOID_7023 obsolete borderline ovarian serous neoplasm with microinvasion http://purl.obolibrary.org/obo/MIM_185100 susceptibility to strabismus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080605 ankylosing spondylitis 3 http://purl.obolibrary.org/obo/DOID_7147 ankylosing spondylitis A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3. http://purl.obolibrary.org/obo/DOID_13327 anatomical narrow angle borderline glaucoma http://purl.obolibrary.org/obo/DOID_9283 borderline glaucoma A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. http://purl.obolibrary.org/obo/DOID_7025 obsolete anaplastic malignant intracranial meningioma http://purl.obolibrary.org/obo/MIM_188890 susceptibility to tobacco addiction http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080606 anterior segment dysgenesis 1 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_13328 diabetic cataract http://purl.obolibrary.org/obo/DOID_83 cataract A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus. http://purl.obolibrary.org/obo/DOID_7026 obsolete adult malignant meningioma http://purl.obolibrary.org/obo/MIM_212750 susceptibility to celiac disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080607 anterior segment dysgenesis 2 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. http://purl.obolibrary.org/obo/DOID_13336 congenital toxoplasmosis http://purl.obolibrary.org/obo/DOID_9965 toxoplasmosis A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. http://purl.obolibrary.org/obo/DOID_7029 obsolete site specific early onset breast cancer syndrome http://purl.obolibrary.org/obo/MIM_215400 susceptibility to chordoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080608 anterior segment dysgenesis 3 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. http://purl.obolibrary.org/obo/DOID_13352 ego-dystonic sexual orientation http://purl.obolibrary.org/obo/DOID_0060043 sexual health disorder A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. http://purl.obolibrary.org/obo/DOID_7043 obsolete metastatic vulvar cancer http://purl.obolibrary.org/obo/MIM_226400 susceptibility to epidermodysplasia verruciformis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080609 anterior segment dysgenesis 4 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. http://purl.obolibrary.org/obo/DOID_13357 chondromalacia patellae http://purl.obolibrary.org/obo/DOID_2557 chondromalacia A chondromalacia that is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. This occurs when the posterior articular surface of the patella starts losing its density when in a healthy state and becomes softer with subsequent tearing, fissuring, and erosion of the hyaline cartilage. http://purl.obolibrary.org/obo/DOID_7053 obsolete anaplastic small cell thyroid carcinoma http://purl.obolibrary.org/obo/MIM_235400 susceptibility to atypical hemolytic uremic syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080610 anterior segment dysgenesis 5 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/DOID_854 collagen disease A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. http://purl.obolibrary.org/obo/DOID_7070 obsolete recurrent pediatric rhabdomyosarcoma http://purl.obolibrary.org/obo/MIM_245300 susceptibility to kuru http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080611 anterior segment dysgenesis 6 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_13365 reading disorder http://purl.obolibrary.org/obo/DOID_8927 learning disability A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. http://purl.obolibrary.org/obo/DOID_7074 obsolete choroidal hemorrhage and rupture http://purl.obolibrary.org/obo/DOID_7075 obsolete atypical vulvar nevus http://purl.obolibrary.org/obo/MIM_246300 susceptibility to leprosy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080612 anterior segment dysgenesis 7 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_13366 Stiff-Person syndrome http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease that is of unknown etiology characterized by progressive rigidity. http://purl.obolibrary.org/obo/DOID_7078 obsolete malignant mediastinal peripheral nerve sheath tumor http://purl.obolibrary.org/obo/MIM_256700 susceptibility to neuroblastoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_258660 susceptibility to nonarteritic anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080613 anterior segment dysgenesis 8 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13368 tinea profunda http://purl.obolibrary.org/obo/DOID_12179 tinea corporis A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. http://purl.obolibrary.org/obo/DOID_7083 obsolete recurrent adult primary hepatoma http://purl.obolibrary.org/obo/DOID_0111670 primary hyperoxaluria type 1 http://purl.obolibrary.org/obo/DOID_2977 primary hyperoxaluria A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. http://purl.obolibrary.org/obo/MIM_300125 susceptibility to migraine with or without aura 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13369 tinea manuum http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. http://purl.obolibrary.org/obo/DOID_7084 obsolete recurrent adult primary liver cancer http://purl.obolibrary.org/obo/DOID_0111671 primary hyperoxaluria type 2 http://purl.obolibrary.org/obo/DOID_2977 primary hyperoxaluria A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. http://purl.obolibrary.org/obo/DOID_13371 scrub typhus http://purl.obolibrary.org/obo/DOID_11256 typhus A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy. http://purl.obolibrary.org/obo/MIM_300351 susceptibility to Graves disease X-linked 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300425 susceptibility to X-linked autism 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7099 obsolete ovarian dermoid cyst with squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_0111672 primary hyperoxaluria type 3 http://purl.obolibrary.org/obo/DOID_2977 primary hyperoxaluria A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. http://purl.obolibrary.org/obo/DOID_13372 alpha 1-antitrypsin deficiency http://purl.obolibrary.org/obo/DOID_2345 plasma protein metabolism disease A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. http://purl.obolibrary.org/obo/MIM_300494 susceptibility to X-linked asperger syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7145 obsolete papillary cystic tumor http://purl.obolibrary.org/obo/DOID_0111673 Saul-Wilson syndrome http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_13374 fibrodysplasia ossificans progressiva http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. http://purl.obolibrary.org/obo/MIM_300495 susceptibility to X-linked autism 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7149 obsolete metastatic parathyroid cancer http://purl.obolibrary.org/obo/DOID_0111674 intellectual developmental disorder with short stature and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. http://purl.obolibrary.org/obo/DOID_13375 temporal arteritis http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. http://purl.obolibrary.org/obo/MIM_300496 susceptibility to X-linked autism 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7150 obsolete recurrent parathyroid cancer http://purl.obolibrary.org/obo/DOID_0111675 neurooculocardiogenitourinary syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. http://purl.obolibrary.org/obo/DOID_13378 Kawasaki disease http://purl.obolibrary.org/obo/DOID_1602 lymphadenitis A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities. http://purl.obolibrary.org/obo/DOID_7155 obsolete adult undifferentiated oligodendroglioma http://purl.obolibrary.org/obo/MIM_300497 susceptibility to X-linked asperger syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0111676 high molecular weight kininogen deficiency http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. http://purl.obolibrary.org/obo/DOID_7156 obsolete anaplastic childhood oligodendroglioma http://purl.obolibrary.org/obo/MIM_300830 susceptibility to X-linked autism 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0111677 familial benign fleck retina http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. http://purl.obolibrary.org/obo/DOID_13381 pernicious anemia http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. http://purl.obolibrary.org/obo/DOID_0111678 hereditary folate malabsorption http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. http://purl.obolibrary.org/obo/DOID_7157 obsolete metastatic squamous neck cancer with occult primary http://purl.obolibrary.org/obo/MIM_300847 susceptibility to X-linked autism 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300872 susceptibility to X-linked autism 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13382 megaloblastic anemia http://purl.obolibrary.org/obo/DOID_2361 macrocytic anemia A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. http://purl.obolibrary.org/obo/DOID_0111679 glutamate formiminotransferase deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_7158 obsolete recurrent metastatic squamous cell cancer to the neck with occult primary http://purl.obolibrary.org/obo/MIM_300909 susceptibility to angioedema induced by ace inhibitors http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13386 gastrointestinal anthrax http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. http://purl.obolibrary.org/obo/DOID_0111680 essential fructosuria http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. http://purl.obolibrary.org/obo/DOID_7162 obsolete recurrent larynx cancer http://purl.obolibrary.org/obo/MIM_309200 major affective disorder 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13389 labia majora carcinoma http://purl.obolibrary.org/obo/DOID_4159 skin cancer A vulva carcinoma that is located_in the labia majora. http://purl.obolibrary.org/obo/DOID_0111681 congenital nonspherocytic hemolytic anemia 7 http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. http://purl.obolibrary.org/obo/DOID_7164 obsolete mediastinum mature teratoma http://purl.obolibrary.org/obo/MIM_600155 susceptibility to hirschsprung disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_600807 susceptibility to asthma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia http://purl.obolibrary.org/obo/DOID_1340 pure red-cell aplasia A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. http://purl.obolibrary.org/obo/DOID_0111682 cystic renal dysplasia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. http://purl.obolibrary.org/obo/DOID_0111683 neurofibromatosis-Noonan syndrome http://purl.obolibrary.org/obo/DOID_0080690 RASopathy A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. http://purl.obolibrary.org/obo/DOID_7170 obsolete recurrent non-cutaneous melanoma http://purl.obolibrary.org/obo/MIM_601744 susceptibility to systemic lupus erythematosus 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13399 color blindness http://purl.obolibrary.org/obo/DOID_1432 blindness A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. http://purl.obolibrary.org/obo/DOID_0111684 hereditary mixed polyposis syndrome http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated. http://purl.obolibrary.org/obo/DOID_0111685 hereditary mixed polyposis syndrome 1 http://purl.obolibrary.org/obo/DOID_0111684 hereditary mixed polyposis syndrome A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. http://purl.obolibrary.org/obo/DOID_7171 obsolete recurrent cutaneous melanoma http://purl.obolibrary.org/obo/MIM_601887 susceptibility to malignant hyperthermia 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_134 vaginal glandular tumor http://purl.obolibrary.org/obo/DOID_119 vaginal cancer A vaginal cancer that has_material_basis_in glandular tissue. http://purl.obolibrary.org/obo/DOID_0111686 hereditary mixed polyposis syndrome 2 http://purl.obolibrary.org/obo/DOID_0111684 hereditary mixed polyposis syndrome A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. http://purl.obolibrary.org/obo/DOID_0111687 Potocki-Shaffer syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_7186 obsolete metastatic childhood sarcoma of soft tissue http://purl.obolibrary.org/obo/MIM_603388 susceptibility to Graves disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_1340 pure red-cell aplasia http://purl.obolibrary.org/obo/DOID_1342 congenital hypoplastic anemia A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. http://purl.obolibrary.org/obo/DOID_7215 obsolete relapsed childhood ependymoma http://purl.obolibrary.org/obo/DOID_0111688 Ayme-Gripp syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. http://purl.obolibrary.org/obo/MIM_604370 susceptibility to familial breast-ovarian cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13403 neurosarcoidosis http://purl.obolibrary.org/obo/DOID_11335 sarcoidosis A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system. http://purl.obolibrary.org/obo/DOID_722 obsolete spontaneous abortion http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy http://purl.obolibrary.org/obo/DOID_0050705 adolescence-adult electroclinical syndrome An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. http://purl.obolibrary.org/obo/MIM_605218 susceptibility to systemic lupus erythematosus 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13404 uveoparotid fever http://purl.obolibrary.org/obo/DOID_11335 sarcoidosis A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve. http://purl.obolibrary.org/obo/DOID_7245 obsolete metastatic endometrial adenocarcinoma http://purl.obolibrary.org/obo/DOID_0111690 familial adult myoclonic epilepsy 1 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. http://purl.obolibrary.org/obo/MIM_605462 susceptibility to basal cell carcinoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13405 cardiac sarcoidosis http://purl.obolibrary.org/obo/DOID_11335 sarcoidosis A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle. http://purl.obolibrary.org/obo/DOID_7252 obsolete cerebral meninges malignant neoplasm http://purl.obolibrary.org/obo/DOID_0111691 familial adult myoclonic epilepsy 5 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. http://purl.obolibrary.org/obo/MIM_605990 susceptibility to uric acid nephrolithiasis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13406 pulmonary sarcoidosis http://purl.obolibrary.org/obo/DOID_850 lung disease A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction. http://purl.obolibrary.org/obo/DOID_7256 obsolete anaplastic urethra carcinoma http://purl.obolibrary.org/obo/DOID_0111692 familial adult myoclonic epilepsy 2 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. http://purl.obolibrary.org/obo/MIM_606217 susceptibility to atrioventricular septal defect 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13413 hepatic encephalopathy http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. http://purl.obolibrary.org/obo/DOID_7262 obsolete gallbladder anaplastic carcinoma http://purl.obolibrary.org/obo/DOID_0111693 familial adult myoclonic epilepsy 4 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. http://purl.obolibrary.org/obo/MIM_606581 susceptibility to polysubstance abuse http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13417 alexia http://purl.obolibrary.org/obo/DOID_4090 agnosia An agnosia that is a loss of the ability to recognize text. http://purl.obolibrary.org/obo/DOID_7268 obsolete solid carcinoma of lung with mucus formation http://purl.obolibrary.org/obo/DOID_0111694 familial adult myoclonic epilepsy 7 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. http://purl.obolibrary.org/obo/MIM_606657 susceptibility to normal tension glaucoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0111695 familial adult myoclonic epilepsy 3 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. http://purl.obolibrary.org/obo/DOID_1342 congenital hypoplastic anemia http://purl.obolibrary.org/obo/DOID_12449 aplastic anemia An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. http://purl.obolibrary.org/obo/DOID_7273 obsolete adrenal gland tuberculosis http://purl.obolibrary.org/obo/MIM_606788 susceptibility to anorexia nervosa http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0111696 familial adult myoclonic epilepsy 6 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. http://purl.obolibrary.org/obo/DOID_13431 bejel http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. http://purl.obolibrary.org/obo/DOID_7295 obsolete recurrent childhood soft tissue sarcoma http://purl.obolibrary.org/obo/MIM_606798 susceptibility to benign essential blepharospasm http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_172368 brominated flame retardant http://purl.obolibrary.org/obo/CHEBI_79314 flame retardant A flame retardant that is brominated flame retardant, contain bromine and are the most abundantly used flame retardants. Used in many consumer goods, including electronics, furniture, building materials, etc. and have been linked to endocrine disruption among other effects. http://purl.obolibrary.org/obo/CHEBI_172390 glycol ether http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A hydroxyether which contains both an ether and alcohol functional groups. It is one of the most versatile classes of organic solvents which are commonly used in paints, cleaners, adhesives, pharmaceuticals and cosmetics. http://purl.obolibrary.org/obo/DOID_13444 glanders http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs. http://purl.obolibrary.org/obo/DOID_7296 obsolete nonmetastatic childhood soft tissue sarcoma http://purl.obolibrary.org/obo/MIM_606856 susceptibility to pancreatic cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_172397 perfluoroalkyl substance http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor An endocrine disruptor that is perfluoroalkyl substance, used widely in industrial applications, such as firefighting foams and non-stick pan, paper, and textile coatings. http://purl.obolibrary.org/obo/DOID_13450 coccidioidomycosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. http://purl.obolibrary.org/obo/DOID_7301 obsolete inferior vena cava leiomyosarcoma http://purl.obolibrary.org/obo/MIM_607174 susceptibility to familial meningioma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/SYMP_0020044 hair shedding http://purl.obolibrary.org/obo/SYMP_0020040 hair symptom A hair symptom that is characterized by significant falling out of hair, which may be a result of stress, high fever, and other factors. http://purl.obolibrary.org/obo/DOID_13453 gonococcal bursitis http://purl.obolibrary.org/obo/DOID_2965 bursitis A bursitis that is characterized by an inflammation of a bursa caused by the Neisseria gonorrhoeae bacteria, resulting from gonorrhea that has spread to other parts of the body. http://purl.obolibrary.org/obo/DOID_7304 obsolete breast carcinoma metastatic to the brain http://purl.obolibrary.org/obo/MIM_607248 glioma susceptibility 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13473 central pterygium http://purl.obolibrary.org/obo/DOID_13474 progressive peripheral pterygium A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula. http://purl.obolibrary.org/obo/DOID_7306 obsolete anaplastic oligoastrocytoma http://purl.obolibrary.org/obo/MIM_607354 susceptibility to isolated scoliosis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_13474 progressive peripheral pterygium http://purl.obolibrary.org/obo/DOID_10526 conjunctival pterygium A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula. http://purl.obolibrary.org/obo/DOID_7316 obsolete inherited neuropathy http://purl.obolibrary.org/obo/MIM_607373 susceptibility to autism 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0081264 developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). http://purl.obolibrary.org/obo/DOID_13477 balanitis xerotica obliterans http://purl.obolibrary.org/obo/DOID_13033 balanitis A balantitis characterized by white plaques or patches on genitals. http://purl.obolibrary.org/obo/DOID_7323 obsolete primary cerebral lymphoma in immunocompetent host http://purl.obolibrary.org/obo/MIM_607499 susceptibility to bulimia nervosa http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_13481 thanatophoric dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. http://purl.obolibrary.org/obo/DOID_7324 obsolete hepatitis C virus related hepatocellular carcinoma http://purl.obolibrary.org/obo/MIM_607507 psoriatic arthritis susceptibility http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0081266 complex cortical dysplasia with other brain malformations 15 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_13482 Proteus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis. http://purl.obolibrary.org/obo/DOID_7325 obsolete hepatitis B virus related hepatocellular carcinoma http://purl.obolibrary.org/obo/MIM_607516 susceptibility to migraine with or without aura 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the premature onset of age-related pathologies. http://purl.obolibrary.org/obo/DOID_13487 childhood disintegrative disease http://purl.obolibrary.org/obo/DOID_0060040 pervasive developmental disorder A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. http://purl.obolibrary.org/obo/DOID_7335 obsolete extraocular extension of melanoma http://purl.obolibrary.org/obo/MIM_607688 susceptibility to autosomal dominant parkinson disease 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0060950 hypervalinemia and hyperleucine-isoleucinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_135 benign vaginal carcinosarcoma http://purl.obolibrary.org/obo/DOID_0060114 vaginal benign neoplasm A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. http://purl.obolibrary.org/obo/DOID_7344 obsolete anaplastic brainstem astrocytoma http://purl.obolibrary.org/obo/MIM_607832 susceptibility to focal segmental glomerulosclerosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0060951 polycystic kidney disease 6 http://purl.obolibrary.org/obo/DOID_898 autosomal dominant polycystic kidney disease An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_13501 Moebius syndrome http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). http://purl.obolibrary.org/obo/DOID_7345 obsolete anaplastic glioma of brain stem http://purl.obolibrary.org/obo/MIM_607836 susceptibility to autoimmune disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0060960 orofaciodigital syndrome XIX http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_13515 tuberous sclerosis http://purl.obolibrary.org/obo/DOID_0070656 hamartoma syndrome A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. http://purl.obolibrary.org/obo/DOID_735 obsolete metastatic neoplasm of urethra http://purl.obolibrary.org/obo/DOID_7351 obsolete localized Askin's tumor http://purl.obolibrary.org/obo/MIM_607850 osteoarthritis susceptibility 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0060961 orofaciodigital syndrome XVIII http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_7352 obsolete diencephalic anaplastic astrocytoma http://purl.obolibrary.org/obo/DOID_13521 tetanus neonatorum http://purl.obolibrary.org/obo/DOID_11338 tetanus A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion. http://purl.obolibrary.org/obo/MIM_608049 susceptibility to autism 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0060962 orofaciodigital syndrome XX http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_7357 obsolete rectal anaplastic carcinoma http://purl.obolibrary.org/obo/DOID_0060968 hypotrichosis 15 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_13523 loiasis http://purl.obolibrary.org/obo/DOID_5614 eye disease A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. http://purl.obolibrary.org/obo/MIM_608446 susceptibility to myocardial infarction http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7358 obsolete recurrent rectal cancer http://purl.obolibrary.org/obo/DOID_0060970 Cornelia de Lange syndrome 6 http://purl.obolibrary.org/obo/DOID_11725 Cornelia de Lange syndrome A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis http://purl.obolibrary.org/obo/DOID_4254 osteosclerosis An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. http://purl.obolibrary.org/obo/MIM_608556 susceptibility to legionnaire disease http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7362 obsolete teratoma of CNS with malignant transformation http://purl.obolibrary.org/obo/DOID_0070545 developmental and epileptic encephalopathy 116 http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/DOID_7364 obsolete organic anxiety disorder http://purl.obolibrary.org/obo/DOID_13534 purulent labyrinthitis http://purl.obolibrary.org/obo/DOID_1468 labyrinthitis A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. http://purl.obolibrary.org/obo/MIM_608709 susceptibility to partial acquired lipodystrophy http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0060973 WHIM syndrome 2 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_7384 obsolete localized resectable adult primary hepatoma http://purl.obolibrary.org/obo/DOID_13543 hyperparathyroidism http://purl.obolibrary.org/obo/DOID_11201 parathyroid gland disease A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. http://purl.obolibrary.org/obo/MIM_608765 susceptibility to isolated scoliosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0061170 autoinflammation, panniculitis, and dermatosis syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by neonatal or infantile onset of systemic inflammation, fever, panniculitis, aseptic skin lesions, leukocytosis, neutrophilia, and elevated inflammatory markers, including C-reactive protein, with no overt primary immunodeficiency that has_material_basis_in mutation in the OTULIN gene on chromosome 5p15, that encodes a deubiquitinase with linear linkage specificity. http://purl.obolibrary.org/obo/DOID_7385 obsolete localized resectable adult primary liver cancer http://purl.obolibrary.org/obo/DOID_13544 low tension glaucoma http://purl.obolibrary.org/obo/DOID_1067 open-angle glaucoma An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision. http://purl.obolibrary.org/obo/DOID_13549 interval angle-closure glaucoma http://purl.obolibrary.org/obo/DOID_1405 primary angle-closure glaucoma A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. http://purl.obolibrary.org/obo/DOID_13550 angle-closure glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. http://purl.obolibrary.org/obo/DOID_13560 subserous uterine fibroid http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is located adjacent to the outside of the uterus. http://purl.obolibrary.org/obo/DOID_13564 aspergillosis http://purl.obolibrary.org/obo/DOID_2473 opportunistic mycosis An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. http://purl.obolibrary.org/obo/MIM_608812 susceptibility to colorectal cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0061153 monilethrix 3 http://purl.obolibrary.org/obo/DOID_0050472 monilethrix A hair disease that is characterized by periodic narrowing ('beading') along the hair shaft visible on microscopy and that has_material_basis_in heterozygous mutation in the KRT83 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_739 obsolete metastasis to the urethra http://purl.obolibrary.org/obo/DOID_13565 neuroaspergillosis http://purl.obolibrary.org/obo/DOID_863 nervous system disease An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. http://purl.obolibrary.org/obo/MIM_608831 susceptibility to restless legs syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/TRANS_0000018 placental transmission http://purl.obolibrary.org/obo/TRANS_0000006 congenital transmission Placental transmission is a congenital transmission process during which the pathogen is transmitted directly from mother to child across the placental barrier. http://purl.obolibrary.org/obo/DOID_7391 obsolete superior vena cava malignant neoplasm http://purl.obolibrary.org/obo/DOID_13574 cortical senile cataract http://purl.obolibrary.org/obo/DOID_9669 senile cataract A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging. http://purl.obolibrary.org/obo/MIM_608864 susceptibility to orofacial cleft 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0060034 dropped head syndrome http://purl.obolibrary.org/obo/DOID_0060564 spinal disease A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. http://purl.obolibrary.org/obo/DOID_7407 obsolete metastatic carcinoma to the uterine cervix http://purl.obolibrary.org/obo/DOID_13576 twin-to-twin transfusion syndrome http://purl.obolibrary.org/obo/DOID_11244 neonatal anemia A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced. http://purl.obolibrary.org/obo/MIM_608901 susceptibility to coronary heart disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0080930 primary localized cutaneous amyloidosis 1 http://purl.obolibrary.org/obo/DOID_0050639 primary cutaneous amyloidosis A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. http://purl.obolibrary.org/obo/DOID_7410 obsolete vulvar squamous cell carcinoma with tumor giant cells http://purl.obolibrary.org/obo/DOID_13579 kwashiorkor http://purl.obolibrary.org/obo/DOID_11801 protein-energy malnutrition A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone. http://purl.obolibrary.org/obo/MIM_609048 susceptibility to cutaneous malignant melanoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/SYMP_0020061 outlet dysfunction constipation http://purl.obolibrary.org/obo/SYMP_0019180 constipation A constipation that is characterized by difficulty passing bowel movements after they reach the rectum. One experiences difficulty evacuating the stool and often has to strain or press the fingers into the vagina or in front of or into the rectum to help remove the stool. Outlet dysfunction can be caused by inappropriate or abnormal muscle contraction of the pelvic floor (called pelvic floor dyssynergia or dyssynergic defecation) which can respond to biofeedback. It may also be due to a rectocele or other structural changes in the pelvic floor that will require medical or at times, surgical treatment. http://purl.obolibrary.org/obo/DOID_7419 obsolete metaplastic meningioma http://purl.obolibrary.org/obo/DOID_7420 obsolete placental infarction http://purl.obolibrary.org/obo/DOID_13580 cholestasis http://purl.obolibrary.org/obo/DOID_4138 bile duct disease A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. http://purl.obolibrary.org/obo/MIM_609148 susceptibility to mild malaria http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/SYMP_0020062 soft tissue necrosis http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom A musculoskeletal system symptom that is characterized by necrosis (i.e. tissue death) of soft tissue, including muscle, fat, blood vessels, nerves, tendons, and tissues that surround the bones and joints. http://purl.obolibrary.org/obo/DOID_7423 obsolete ovarian mucinous cystic tumor with mural nodules http://purl.obolibrary.org/obo/DOID_13589 female infertility of uterine origin http://purl.obolibrary.org/obo/DOID_345 uterine disease A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year. http://purl.obolibrary.org/obo/MIM_609378 susceptibility to autism 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070405 hypomyelinating leukodystrophy 16 http://purl.obolibrary.org/obo/DOID_0060786 hypomyelinating leukodystrophy A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. http://purl.obolibrary.org/obo/DOID_744 obsolete Muscle calcification and ossification http://purl.obolibrary.org/obo/DOID_13593 eclampsia http://purl.obolibrary.org/obo/DOID_10591 pre-eclampsia A pre-eclampsia characterized by the presence of seizures. http://purl.obolibrary.org/obo/MIM_609423 susceptibility to human immunodeficiency virus type 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070465 autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. http://purl.obolibrary.org/obo/DOID_7444 obsolete diffuse intraductal papillomatosis http://purl.obolibrary.org/obo/DOID_136 vaginal carcinosarcoma http://purl.obolibrary.org/obo/DOID_0050918 vaginal carcinoma A vaginal carcinoma that has_material_basis_in connective tissue. http://purl.obolibrary.org/obo/MIM_609532 susceptibility to hepatitis C virus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070468 Yoon-Bellen neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. http://purl.obolibrary.org/obo/DOID_7455 obsolete hypogonadotropism http://purl.obolibrary.org/obo/DOID_0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/DOID_13603 obstructive jaundice http://purl.obolibrary.org/obo/DOID_13580 cholestasis A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction. http://purl.obolibrary.org/obo/MIM_609633 major affective disorder 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7468 obsolete Spitz nevus http://purl.obolibrary.org/obo/DOID_0070471 early-onset epilepsy 2 http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_13608 biliary atresia http://purl.obolibrary.org/obo/DOID_13580 cholestasis A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. http://purl.obolibrary.org/obo/MIM_609753 susceptibility to celiac disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7469 obsolete balloon cell nevus http://purl.obolibrary.org/obo/DOID_0070472 early-onset epilepsy 3 http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_13619 extrahepatic cholestasis http://purl.obolibrary.org/obo/DOID_13580 cholestasis A cholestasis resulting from causes located_in bile ducts outside the liver. http://purl.obolibrary.org/obo/MIM_609755 susceptibility to celiac disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7470 obsolete neural nevus http://purl.obolibrary.org/obo/DOID_0070517 retinal macular dystrophy 2 http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. http://purl.obolibrary.org/obo/DOID_1362 paranasal sinus sarcoma http://purl.obolibrary.org/obo/DOID_1115 sarcoma A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. http://purl.obolibrary.org/obo/MIM_610297 susceptibility to autosomal dominant parkinson disease 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7471 obsolete deep penetrating nevus http://purl.obolibrary.org/obo/DOID_0081421 familial focal epilepsy with variable foci 1 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_13622 campylobacteriosis http://purl.obolibrary.org/obo/DOID_104 bacterial infectious disease A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. http://purl.obolibrary.org/obo/MIM_610438 susceptibility to restless legs syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7472 obsolete recurrent nevus http://purl.obolibrary.org/obo/DOID_0060976 polycystic liver disease 3 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14. http://purl.obolibrary.org/obo/DOID_13628 favism http://purl.obolibrary.org/obo/DOID_2862 glucosephosphate dehydrogenase deficiency A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. http://purl.obolibrary.org/obo/MIM_610439 susceptibility to restless legs syndrome 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7473 obsolete recurrent malignant pleural mesothelioma http://purl.obolibrary.org/obo/TRANS_0000015 biologic transmission http://purl.obolibrary.org/obo/TRANS_0000005 vector-borne transmission Biological transmission is an indirect vector-borne transmission process during which the pathogen is transported, from a reservoir, source or host to another host, within the vector and undergoes part of its lifecycle in the vector. http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia http://purl.obolibrary.org/obo/DOID_1342 congenital hypoplastic anemia A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. http://purl.obolibrary.org/obo/MIM_610676 susceptibility to autism 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7486 obsolete metastatic renal cell carcinoma http://purl.obolibrary.org/obo/SYMP_0000846 chest hyperemia http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom Hyperemia of the chest is a cardiovascular system symptom consisting of an excess of blood in the tissues of the chest as from an increased flow of blood due to vasodilation. http://purl.obolibrary.org/obo/SYMP_0000715 skin desquamation http://purl.obolibrary.org/obo/SYMP_0020048 skin peeling A skin and integumentary tissue symptom that is characterized by the peeling off of skin in the form of scales. http://purl.obolibrary.org/obo/DOID_13641 exfoliation syndrome http://purl.obolibrary.org/obo/DOID_240 iris disease A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. http://purl.obolibrary.org/obo/MIM_610836 susceptibility to autism 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7504 obsolete mixed embryonal carcinoma and endodermal sinus neoplasm of the testis http://purl.obolibrary.org/obo/SYMP_0000424 claudication http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a leg pain in the calf, or thigh, which is caused by inadequate blood flow to the leg muscles and is brought on by leg exercise such as walking. http://purl.obolibrary.org/obo/DOID_13677 SAPHO syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. http://purl.obolibrary.org/obo/MIM_610839 osteoarthritis susceptibility 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7507 obsolete malformation of placenta http://purl.obolibrary.org/obo/SYMP_0000595 febrile convulsion http://purl.obolibrary.org/obo/SYMP_0000596 convulsion A convulsion that is characterized by occurring in young children between six months and five years of age and which is triggered by fever. http://purl.obolibrary.org/obo/DOID_13690 acute gonococcal cystitis http://purl.obolibrary.org/obo/DOID_13148 acute cystitis An acute cystitis that is caused by gonorrhea. http://purl.obolibrary.org/obo/MIM_610908 susceptibility to autism 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7512 obsolete localized intraductal papillomatosis http://purl.obolibrary.org/obo/SYMP_0000605 coma http://purl.obolibrary.org/obo/SYMP_0000482 alteration of consciousness An alteration of consciousness that is characterized by a deep state of prolonged unconsciousness in which a person cannot be awakened, fails to respond normally to painful stimuli, light, or sound, lacks a normal wake-sleep cycle and does not initiate voluntary actions. http://purl.obolibrary.org/obo/DOID_13691 dermoid cyst of skin http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm A dermoid cyst that is located_in the skin. http://purl.obolibrary.org/obo/MIM_610927 susceptibility to systemic lupus erythematosus 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7517 obsolete central nervous system mixed germ cell tumor http://purl.obolibrary.org/obo/SYMP_0019151 pulmonary edema http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an abnormal accumulation of fluid in the lungs. http://purl.obolibrary.org/obo/DOID_137 vaginal squamous papilloma http://purl.obolibrary.org/obo/DOID_0060114 vaginal benign neoplasm A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. http://purl.obolibrary.org/obo/MIM_610938 susceptibility to coronary heart disease 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7526 obsolete metastatic neoplasm to the ciliary body http://purl.obolibrary.org/obo/SYMP_0019176 malaise http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by an indefinite feeling of debility or lack of health, often indicative of or accompanying the onset of an illness. http://purl.obolibrary.org/obo/DOID_1371 uterine corpus adenomatoid tumor http://purl.obolibrary.org/obo/DOID_657 adenoma An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium. http://purl.obolibrary.org/obo/MIM_610988 susceptibility to leprosy 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7543 obsolete recurrent squamous cell carcinoma of the esophagus http://purl.obolibrary.org/obo/SYMP_0000822 chronic enteritis http://purl.obolibrary.org/obo/SYMP_0000039 enteritis Chronic enteritis is a enteritis with slow progress, long duration, or frequent recurrence which can be due to Crohn's disease, giardiasis, tuberculosis, coeliac disease, or rarely due to Whipple's disease. http://purl.obolibrary.org/obo/DOID_13711 dental fluorosis http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. http://purl.obolibrary.org/obo/MIM_611015 susceptibility to autism 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7544 obsolete recurrent esophagus cancer http://purl.obolibrary.org/obo/SYMP_0000361 progressive emaciation http://purl.obolibrary.org/obo/SYMP_0000360 emaciation An emaciation that is characterized by an increase in scope or severity with time. http://purl.obolibrary.org/obo/DOID_13714 anodontia http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease that is characterized by complete absence of permanent teeth. http://purl.obolibrary.org/obo/MIM_611016 susceptibility to autism 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7554 obsolete Paget's disease and intraductal carcinoma of breast http://purl.obolibrary.org/obo/SYMP_0000560 polydipsia http://purl.obolibrary.org/obo/SYMP_0000473 nutrition, metabolism, and development symptom A nutrition, metabolism, and development symptom that is characterized by an excessive or abnormal thirst. http://purl.obolibrary.org/obo/DOID_13717 mature cataract http://purl.obolibrary.org/obo/DOID_9669 senile cataract A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging. http://purl.obolibrary.org/obo/MIM_611162 susceptibility to malaria http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7568 obsolete adult brain meningioma http://purl.obolibrary.org/obo/TRANS_0000019 arthropod borne transmission http://purl.obolibrary.org/obo/TRANS_0000005 vector-borne transmission Arthropod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary arthropod vector to another host. http://purl.obolibrary.org/obo/DOID_13722 neuroschistosomiasis http://purl.obolibrary.org/obo/DOID_936 brain disease A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. http://purl.obolibrary.org/obo/MIM_611185 susceptibility to restless legs syndrome 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_757 obsolete thyrotoxicosis with toxic single thyroid nodule http://purl.obolibrary.org/obo/SYMP_0000569 oliguria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the reduced excretion of urine. http://purl.obolibrary.org/obo/DOID_13724 scurvy http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing. http://purl.obolibrary.org/obo/MIM_611242 susceptibility to restless legs syndrome 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7576 obsolete metastatic pancreatic adenocarcinoma http://purl.obolibrary.org/obo/SYMP_0000367 proteinuria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom characterized by the presence of excess protein in the urine. http://purl.obolibrary.org/obo/DOID_13725 beriberi http://purl.obolibrary.org/obo/DOID_0070313 thiamine deficiency disease A thiamine deficiency disease that is characterized by being severe and chronic. http://purl.obolibrary.org/obo/MIM_611247 major affective disorder 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7581 obsolete psychogenic depressive psychosis http://purl.obolibrary.org/obo/DOID_0060911 karyomegalic interstitial nephritis http://purl.obolibrary.org/obo/DOID_1063 interstitial nephritis An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. http://purl.obolibrary.org/obo/DOID_1373 endometrial stromal nodule http://purl.obolibrary.org/obo/DOID_0060095 uterine benign neoplasm An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma. http://purl.obolibrary.org/obo/MIM_611469 susceptibility to colorectal cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7588 obsolete mixed endodermal sinus neoplasm and teratoma of the testis http://purl.obolibrary.org/obo/DOID_0090100 ocular albinism with sensorineural deafness http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. http://purl.obolibrary.org/obo/DOID_13736 uterine inflammatory disease http://purl.obolibrary.org/obo/DOID_345 uterine disease A uterine disease that is characterized by inflammation. http://purl.obolibrary.org/obo/MIM_611535 major affective disorder 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7589 obsolete ovarian dermoid cyst with melanocytic nevus http://purl.obolibrary.org/obo/DOID_759 obsolete congenital disorder http://purl.obolibrary.org/obo/DOID_0090101 lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_13743 spinal cord lipoma http://purl.obolibrary.org/obo/DOID_6293 central nervous system lipoma A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. http://purl.obolibrary.org/obo/MIM_611536 major affective disorder 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7590 obsolete ovarian dermoid cyst with secondary melanocytic lesion http://purl.obolibrary.org/obo/DOID_0090102 autosomal dominant isolated macrothrombocytopenia 1 http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. http://purl.obolibrary.org/obo/DOID_13760 Pthirus pubis infestation http://purl.obolibrary.org/obo/DOID_5502 lice infestation A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. http://purl.obolibrary.org/obo/MIM_611942 susceptibility to childhood absence epilepsy 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7593 obsolete recurrent pediatric medulloblastoma http://purl.obolibrary.org/obo/DOID_0090103 Huntington's disease-like 1 http://purl.obolibrary.org/obo/DOID_649 prion disease A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_13767 clonorchiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. http://purl.obolibrary.org/obo/MIM_612100 susceptibility to autism 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7601 obsolete advanced malignant pleural mesothelioma http://purl.obolibrary.org/obo/DOID_0090104 Huntington's disease-like 2 http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0090105 autosomal recessive hypercholesterolemia http://purl.obolibrary.org/obo/DOID_13810 familial hypercholesterolemia A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_13768 opisthorchiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and cholangiocarcinoma. http://purl.obolibrary.org/obo/MIM_612229 susceptibility to colorectal cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_761 obsolete meningococcal endocarditis http://purl.obolibrary.org/obo/DOID_762 obsolete bacterial endocarditis http://purl.obolibrary.org/obo/DOID_763 obsolete meningococcal carditis http://purl.obolibrary.org/obo/DOID_7636 obsolete recurrent cancer of small Intestine http://purl.obolibrary.org/obo/DOID_0090106 BH4-deficient hyperphenylalaninemia A http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. http://purl.obolibrary.org/obo/DOID_13774 Addison's disease http://purl.obolibrary.org/obo/DOID_10493 adrenal cortical hypofunction An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. http://purl.obolibrary.org/obo/MIM_612230 susceptibility to colorectal cancer 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612231 susceptibility to colorectal cancer 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7638 obsolete Paget's disease and invasive ductal carcinoma of breast http://purl.obolibrary.org/obo/DOID_0090107 autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/DOID_0090109 autosomal dominant hypocalcemia An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_13775 plantar wart http://purl.obolibrary.org/obo/DOID_11166 Human papillomavirus infectious disease A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. http://purl.obolibrary.org/obo/MIM_612232 susceptibility to colorectal cancer 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_764 obsolete meningococcal pericarditis http://purl.obolibrary.org/obo/DOID_0090108 autosomal dominant hypocalcemia 2 http://purl.obolibrary.org/obo/DOID_0090109 autosomal dominant hypocalcemia An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13777 epidermodysplasia verruciformis http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to infection with specific human papillomavirus (HPV) genotypes, usually beta-HPV strains, and to the oncogenic potential of some of them, mainly HPV5 and HPV8. Affected individuals develop disseminated flat wart-like and pityriasis versicolor-like cutaneous lesions in childhood or adolescence. Associated with a high risk of carcinoma and has_symptom lesions on the body. http://purl.obolibrary.org/obo/MIM_612238 susceptibility to isolated scoliosis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13778 chancroid http://purl.obolibrary.org/obo/DOID_37 skin disease A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers. http://purl.obolibrary.org/obo/MIM_612239 susceptibility to isolated scoliosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7641 obsolete non-resectable small intestine carcinoma http://purl.obolibrary.org/obo/DOID_0090109 autosomal dominant hypocalcemia http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. http://purl.obolibrary.org/obo/DOID_13791 myringitis bullosa hemorrhagica http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. http://purl.obolibrary.org/obo/MIM_612251 susceptibility to systemic lupus erythematosus 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7652 obsolete rare cancer-associated syndrome http://purl.obolibrary.org/obo/DOID_0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_13799 female breast central part cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the center of the breast. http://purl.obolibrary.org/obo/DOID_138 vaginal squamous tumor http://purl.obolibrary.org/obo/DOID_119 vaginal cancer A vaginal cancer that has_material_basis_in squamous tissue. http://purl.obolibrary.org/obo/MIM_612253 susceptibility to systemic lupus erythematosus 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_1380 endometrial cancer http://purl.obolibrary.org/obo/DOID_363 uterine cancer A uterine cancer that is located_in tissues lining the uterus. http://purl.obolibrary.org/obo/MIM_612269 susceptibility to childhood absence epilepsy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7657 obsolete anaplastic astrocytoma of adult http://purl.obolibrary.org/obo/DOID_7671 obsolete recurrent penis cancer http://purl.obolibrary.org/obo/DOID_0090111 PCWH syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_13800 inclusion conjunctivitis http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. http://purl.obolibrary.org/obo/MIM_612357 major affective disorder 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7672 obsolete regressing non-cutaneous melanoma http://purl.obolibrary.org/obo/DOID_0090112 Nasu-Hakola disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_13801 pharyngoconjunctival fever http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache. http://purl.obolibrary.org/obo/MIM_612371 major affective disorder 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7677 obsolete bone metastatic Ewing's sarcoma http://purl.obolibrary.org/obo/DOID_0090113 RIDDLE syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_1381 Fox-Fordyce disease http://purl.obolibrary.org/obo/DOID_1383 sweat gland disease A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. http://purl.obolibrary.org/obo/DOID_7681 obsolete mixed choriocarcinoma and teratoma of the testis http://purl.obolibrary.org/obo/MIM_612372 major affective disorder 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090114 Sorsby's fundus dystrophy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_7683 obsolete dissecting aortic aneurysm http://purl.obolibrary.org/obo/MIM_612387 susceptibility to sarcoidosis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612388 susceptibility to sarcoidosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13810 familial hypercholesterolemia http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. http://purl.obolibrary.org/obo/DOID_0090115 spinocerebellar ataxia with axonal neuropathy 1 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. http://purl.obolibrary.org/obo/DOID_7710 obsolete metastatic extraskeletal chondrosarcoma http://purl.obolibrary.org/obo/MIM_612400 osteoarthritis susceptibility 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13811 chronic subinvolution of uterus http://purl.obolibrary.org/obo/DOID_345 uterine disease A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy. http://purl.obolibrary.org/obo/DOID_0090116 spondylocarpotarsal synostosis syndrome http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. http://purl.obolibrary.org/obo/DOID_7714 obsolete metastatic malignant hemangiopericytoma http://purl.obolibrary.org/obo/MIM_612401 osteoarthritis susceptibility 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13812 adhesions of uterus http://purl.obolibrary.org/obo/DOID_345 uterine disease A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure. http://purl.obolibrary.org/obo/DOID_0090117 thiamine-responsive megaloblastic anemia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. http://purl.obolibrary.org/obo/DOID_772 obsolete metastasis to the retina http://purl.obolibrary.org/obo/MIM_612551 susceptibility to focal segmental glomerulosclerosis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13814 hypoglossal nerve disease http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve). http://purl.obolibrary.org/obo/MIM_612555 susceptibility to familial breast-ovarian cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090118 congenital amegakaryocytic thrombocytopenia http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers. http://purl.obolibrary.org/obo/DOID_7724 obsolete generalized convulsive epilepsy http://purl.obolibrary.org/obo/DOID_13819 lymphogranuloma venereum http://purl.obolibrary.org/obo/DOID_9113 granuloma inguinale A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. http://purl.obolibrary.org/obo/DOID_1382 miliaria http://purl.obolibrary.org/obo/DOID_1383 sweat gland disease A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts. http://purl.obolibrary.org/obo/MIM_612589 susceptibility to colorectal cancer 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_7728 obsolete chronic allograft arteriopathy http://purl.obolibrary.org/obo/MIM_612590 susceptibility to colorectal cancer 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13822 tetanic cataract http://purl.obolibrary.org/obo/DOID_83 cataract A cataract resulting from hypocalcemia. http://purl.obolibrary.org/obo/DOID_0090120 hereditary neutrophilia http://purl.obolibrary.org/obo/DOID_9500 leukocyte disease A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0090122 aromatase excess syndrome http://purl.obolibrary.org/obo/DOID_15 reproductive system disease A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. http://purl.obolibrary.org/obo/DOID_773 obsolete metastasis to eye http://purl.obolibrary.org/obo/DOID_1383 sweat gland disease http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease located_in the sweat glands. http://purl.obolibrary.org/obo/MIM_612591 susceptibility to colorectal cancer 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0090123 aromatic L-amino acid decarboxylase deficiency http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. http://purl.obolibrary.org/obo/DOID_7753 obsolete recurrent cancer of testis http://purl.obolibrary.org/obo/MIM_612592 susceptibility to colorectal cancer 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_1386 abetalipoproteinemia http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. http://purl.obolibrary.org/obo/DOID_0090124 neurogenic-type arthrogryposis multiplex congenita-2 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. http://purl.obolibrary.org/obo/DOID_7754 obsolete Chondroid hamartoma of lung http://purl.obolibrary.org/obo/DOID_0090125 brain small vessel disease 1 http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_0090126 branched-chain keto acid dehydrogenase kinase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. http://purl.obolibrary.org/obo/MIM_612853 susceptibility to restless legs syndrome 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13861 scleroperikeratitis http://purl.obolibrary.org/obo/DOID_13452 scleritis A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. http://purl.obolibrary.org/obo/DOID_7786 obsolete mixed choriocarcinoma and embryonal carcinoma of the testis http://purl.obolibrary.org/obo/DOID_0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. http://purl.obolibrary.org/obo/MIM_612922 susceptibility to atypical hemolytic uremic syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13862 acute closed-angle glaucoma http://purl.obolibrary.org/obo/DOID_1405 primary angle-closure glaucoma A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening further optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. http://purl.obolibrary.org/obo/DOID_7799 obsolete transitional cell carcinoma of the ureter with glandular differentiation http://purl.obolibrary.org/obo/DOID_0090128 Carvajal syndrome http://purl.obolibrary.org/obo/DOID_0080551 Naxos disease A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. http://purl.obolibrary.org/obo/MIM_612923 susceptibility to atypical hemolytic uremic syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13867 focal labyrinthitis http://purl.obolibrary.org/obo/DOID_1468 labyrinthitis A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. http://purl.obolibrary.org/obo/DOID_7801 obsolete plasmacytoma-like PTLD http://purl.obolibrary.org/obo/DOID_0090129 carnitine palmitoyltransferase I deficiency http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. http://purl.obolibrary.org/obo/MIM_612924 susceptibility to atypical hemolytic uremic syndrome 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood. http://purl.obolibrary.org/obo/DOID_7805 obsolete nonmetastatic extraskeletal osteosarcoma http://purl.obolibrary.org/obo/DOID_0090130 cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. http://purl.obolibrary.org/obo/MIM_612925 susceptibility to atypical hemolytic uremic syndrome 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_1388 Tangier disease http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. http://purl.obolibrary.org/obo/DOID_7809 obsolete anaplastic giant cell thyroid carcinoma http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations. http://purl.obolibrary.org/obo/MIM_612926 susceptibility to atypical hemolytic uremic syndrome 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_1389 polyneuropathy http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. http://purl.obolibrary.org/obo/DOID_7815 obsolete recurrent malignant thymoma http://purl.obolibrary.org/obo/DOID_0090132 complex cortical dysplasia with other brain malformations 7 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. http://purl.obolibrary.org/obo/MIM_613003 susceptibility to attention deficit-hyperactivity disorder 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13891 bird fancier's lung http://purl.obolibrary.org/obo/DOID_841 extrinsic allergic alveolitis An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. http://purl.obolibrary.org/obo/DOID_7836 obsolete mixed acinar-endocrine carcinoma http://purl.obolibrary.org/obo/DOID_0090133 complex cortical dysplasia with other brain malformations 2 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23. http://purl.obolibrary.org/obo/MIM_613013 susceptibility to neuroblastoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_1390 hypobetalipoproteinemia http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats. http://purl.obolibrary.org/obo/DOID_7847 obsolete vascular hemorrhagic disorder http://purl.obolibrary.org/obo/DOID_0090134 complex cortical dysplasia with other brain malformations 3 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12. http://purl.obolibrary.org/obo/MIM_613014 susceptibility to neuroblastoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613015 susceptibility to neuroblastoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13902 white piedra http://purl.obolibrary.org/obo/DOID_0050133 superficial mycosis A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. http://purl.obolibrary.org/obo/DOID_7850 obsolete recurrent uvea melanoma http://purl.obolibrary.org/obo/DOID_0090135 complex cortical dysplasia with other brain malformations 5 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. http://purl.obolibrary.org/obo/MIM_613016 susceptibility to neuroblastoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613024 susceptibility to follicular lymphoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13911 achromatopsia http://purl.obolibrary.org/obo/DOID_13399 color blindness A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_7855 obsolete recurrent ovarian germ cell neoplasm http://purl.obolibrary.org/obo/DOID_0090136 complex cortical dysplasia with other brain malformations 6 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. http://purl.obolibrary.org/obo/MIM_613028 glioma susceptibility 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13918 somatization disorder http://purl.obolibrary.org/obo/DOID_4737 somatoform disorder A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. http://purl.obolibrary.org/obo/DOID_789 obsolete hypotony of eye associated with another ocular disorder http://purl.obolibrary.org/obo/DOID_0090137 complex cortical dysplasia with other brain malformations 1 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. http://purl.obolibrary.org/obo/MIM_613029 glioma susceptibility 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13922 eosinophilic esophagitis http://purl.obolibrary.org/obo/DOID_11963 esophagitis An esophagitis characterized by inflammation involving eosinophils located_in esophagus. http://purl.obolibrary.org/obo/MIM_613030 glioma susceptibility 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7890 obsolete testicular spermatocytic seminoma with sarcoma http://purl.obolibrary.org/obo/DOID_0090138 complex cortical dysplasia with other brain malformations 4 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image. http://purl.obolibrary.org/obo/MIM_613031 glioma susceptibility 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7892 obsolete breast adenohibernoma http://purl.obolibrary.org/obo/DOID_0090139 cortisone reductase deficiency http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. http://purl.obolibrary.org/obo/DOID_13938 amenorrhea http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is characterized by the absence of menstruation. http://purl.obolibrary.org/obo/MIM_613032 glioma susceptibility 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_791 obsolete disorganized schizophrenia in remission http://purl.obolibrary.org/obo/DOID_0090140 cortisone reductase deficiency 2 http://purl.obolibrary.org/obo/DOID_0090139 cortisone reductase deficiency A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_1394 urinary schistosomiasis http://purl.obolibrary.org/obo/DOID_365 bladder disease A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. http://purl.obolibrary.org/obo/MIM_613033 glioma susceptibility 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7919 obsolete nonmetastatic extra-osseous ewing's sarcoma http://purl.obolibrary.org/obo/DOID_0090141 cortisone reductase deficiency 1 http://purl.obolibrary.org/obo/DOID_0090139 cortisone reductase deficiency A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_13941 benign paroxysmal positional vertigo http://purl.obolibrary.org/obo/DOID_9847 peripheral vertigo A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing. http://purl.obolibrary.org/obo/MIM_613058 susceptibility to basal cell carcinoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_792 obsolete disorganized schizophrenia http://purl.obolibrary.org/obo/DOID_0090142 cystathioninuria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_13945 CADASIL http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. http://purl.obolibrary.org/obo/MIM_613059 susceptibility to basal cell carcinoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7920 obsolete central nervous system benign soft tissue neoplasm http://purl.obolibrary.org/obo/DOID_0090143 brachyolmia-amelogenesis imperfecta syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_1395 schistosomiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. http://purl.obolibrary.org/obo/MIM_613061 susceptibility to basal cell carcinoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7922 obsolete benign mediastinal neurilemmoma http://purl.obolibrary.org/obo/DOID_0090144 Donnai-Barrow syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_13951 uterine corpus epithelioid leiomyoma http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures. http://purl.obolibrary.org/obo/MIM_613062 susceptibility to basal cell carcinoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_793 obsolete schizophrenia in remission http://purl.obolibrary.org/obo/DOID_0090145 dopamine beta-hydroxylase deficiency http://purl.obolibrary.org/obo/DOID_863 nervous system disease An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0070005 Seckel syndrome 9 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_13953 uterine corpus dissecting leiomyoma http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid A uterine fibroid that is characterized by the presence of intramural tearing. http://purl.obolibrary.org/obo/MIM_613063 susceptibility to basal cell carcinoma 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613067 susceptibility to acute lymphoblastic leukemia 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7931 obsolete old burn scar-related squamous cell carcinoma of skin http://purl.obolibrary.org/obo/DOID_0070006 Seckel syndrome 6 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. http://purl.obolibrary.org/obo/DOID_13955 uterus interstitial leiomyoma http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is located within the myometrium. http://purl.obolibrary.org/obo/MIM_613099 susceptibility to cutaneous malignant melanoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613223 susceptibility to leprosy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7933 obsolete childhood precursor T-lymphoblastic lymphoma/leukemia http://purl.obolibrary.org/obo/DOID_7938 obsolete dyschondroplasia http://purl.obolibrary.org/obo/DOID_0070007 Seckel syndrome 1 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_13956 uterine corpus myxoid leiomyoma http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity. http://purl.obolibrary.org/obo/MIM_613347 susceptibility to pancreatic cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613348 susceptibility to pancreatic cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613399 susceptibility to familial breast-ovarian cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_794 obsolete residual schizophrenia in remission http://purl.obolibrary.org/obo/DOID_7946 obsolete recurrent cancer of colon http://purl.obolibrary.org/obo/DOID_0070008 Seckel syndrome 10 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_13957 uterine corpus lipoleiomyoma http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is characterized by the presence of adipocytes. http://purl.obolibrary.org/obo/DOID_13958 uterine corpus bizarre leiomyoma http://purl.obolibrary.org/obo/DOID_127 leiomyoma An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells. http://purl.obolibrary.org/obo/MIM_613410 susceptibility to autism 16 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613436 susceptibility to autism 17 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_795 obsolete residual type schizophrenia http://purl.obolibrary.org/obo/DOID_0070009 Seckel syndrome 8 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. http://purl.obolibrary.org/obo/DOID_13963 nuclear senile cataract http://purl.obolibrary.org/obo/DOID_9669 senile cataract A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging. http://purl.obolibrary.org/obo/MIM_613551 susceptibility to autoimmune disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7966 obsolete type 3 ALPS http://purl.obolibrary.org/obo/DOID_0070010 Seckel syndrome 4 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_13964 Morgagni cataract http://purl.obolibrary.org/obo/DOID_9669 senile cataract A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging. http://purl.obolibrary.org/obo/MIM_613643 susceptibility to autosomal dominant parkinson disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_7979 obsolete helicobacter pylori-related gastric adenocarcinoma http://purl.obolibrary.org/obo/DOID_8004 obsolete ovarian dermoid cyst with prolactin secreting adenoma http://purl.obolibrary.org/obo/DOID_0070011 Seckel syndrome 7 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. http://purl.obolibrary.org/obo/DOID_13972 female breast lower-outer quadrant cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the lower-outer qudrant of the breast. http://purl.obolibrary.org/obo/DOID_8005 obsolete ovarian dermoid cyst with secondary pituitary-type tumor http://purl.obolibrary.org/obo/MIM_613656 susceptibility to migraine with or without aura 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070012 Seckel syndrome 5 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_1398 parasitic infectious disease http://purl.obolibrary.org/obo/DOID_0050117 disease by infectious agent A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. http://purl.obolibrary.org/obo/DOID_8011 obsolete metastatic fibrosarcoma http://purl.obolibrary.org/obo/MIM_613711 susceptibility to hirschsprung disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070013 Seckel syndrome 2 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. http://purl.obolibrary.org/obo/DOID_8014 obsolete ovarian dermoid cyst with corticotropin secreting adenoma http://purl.obolibrary.org/obo/MIM_613712 susceptibility to hirschsprung disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13994 cleidocranial dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. http://purl.obolibrary.org/obo/DOID_0070014 autosomal dominant dyskeratosis congenita 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. http://purl.obolibrary.org/obo/DOID_8016 obsolete anaplastic ganglioglioma http://purl.obolibrary.org/obo/MIM_613972 susceptibility to cutaneous malignant melanoma 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye. http://purl.obolibrary.org/obo/DOID_0070015 autosomal recessive dyskeratosis congenita 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_8018 obsolete renal pelvis and ureter regional transitional cell cancer http://purl.obolibrary.org/obo/MIM_614079 susceptibility to aspergillosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614090 susceptibility to sick sinus syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614251 susceptibility to autosomal dominant parkinson disease 18 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_14004 thoracic aortic aneurysm http://purl.obolibrary.org/obo/DOID_3627 aortic aneurysm An aortic aneurysm that is located_in the thoracic aorta. http://purl.obolibrary.org/obo/DOID_0070016 autosomal dominant dyskeratosis congenita 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_8019 obsolete renal pelvis and ureter recurrent transitional cell cancer http://purl.obolibrary.org/obo/MIM_614291 susceptibility to familial breast-ovarian cancer 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_14019 Brucella canis brucellosis http://purl.obolibrary.org/obo/DOID_11077 brucellosis A brucellosis involving an infection caused by Brucella canis in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. http://purl.obolibrary.org/obo/DOID_0070017 autosomal recessive dyskeratosis congenita 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. http://purl.obolibrary.org/obo/DOID_8021 obsolete medullary carcinoma with amyloid stroma http://purl.obolibrary.org/obo/MIM_614320 susceptibility to pancreatic cancer 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_14021 Tietze's syndrome http://purl.obolibrary.org/obo/DOID_1222 cartilage disease A cartilage disease that is characterized by localized tenderness and non-suppurative swelling, typically associated with the 2nd or 3rd costal cartilages unilaterally caused by inflammation of one or more of the costal cartilages and that has symptom anterior chest pain. http://purl.obolibrary.org/obo/DOID_14026 folic acid deficiency anemia http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines. http://purl.obolibrary.org/obo/DOID_14037 aorta atresia http://purl.obolibrary.org/obo/DOID_520 aortic disease An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. http://purl.obolibrary.org/obo/DOID_0070018 autosomal dominant dyskeratosis congenita 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_8024 obsolete male genital tuberculosis http://purl.obolibrary.org/obo/MIM_614371 susceptibility to dengue virus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_14039 POEMS syndrome http://purl.obolibrary.org/obo/DOID_620 blood protein disease A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation. http://purl.obolibrary.org/obo/DOID_14040 autoimmune polyendocrine syndrome http://purl.obolibrary.org/obo/DOID_0060005 autoimmune disease of endocrine system An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. http://purl.obolibrary.org/obo/DOID_0070019 autosomal recessive dyskeratosis congenita 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_8026 obsolete intestinal adenocarcinoma of the stomach http://purl.obolibrary.org/obo/MIM_614456 susceptibility to cutaneous malignant melanoma 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_14042 bipolar I disorder http://purl.obolibrary.org/obo/DOID_3312 bipolar disorder A bipolar disorder that is characterized by at least one manic or mixed episode. http://purl.obolibrary.org/obo/DOID_0070020 autosomal dominant dyskeratosis congenita 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/DOID_0070021 autosomal recessive dyskeratosis congenita 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_8045 obsolete recurrent cancer of prostate http://purl.obolibrary.org/obo/MIM_614466 susceptibility to coronary heart disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614680 susceptibility to severe influenza http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_14049 phaeohyphomycosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. http://purl.obolibrary.org/obo/DOID_0070022 autosomal recessive dyskeratosis congenita 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/DOID_0070023 autosomal dominant dyskeratosis congenita 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_8079 obsolete monomorphic T-cell PTLD http://purl.obolibrary.org/obo/DOID_8080 obsolete ovarian mucinous cystic tumor associated with pseudomyxoma peritonei http://purl.obolibrary.org/obo/DOID_8087 obsolete ovarian dermoid cyst with sebaceous carcinoma http://purl.obolibrary.org/obo/MIM_614740 susceptibility to basal cell carcinoma 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_1405 primary angle-closure glaucoma http://purl.obolibrary.org/obo/DOID_13550 angle-closure glaucoma An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. http://purl.obolibrary.org/obo/DOID_0070024 autosomal recessive dyskeratosis congenita 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. http://purl.obolibrary.org/obo/DOID_8089 obsolete advanced adult primary hepatoma http://purl.obolibrary.org/obo/MIM_614810 susceptibility to multiple sclerosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_14059 paraurethral gland cancer http://purl.obolibrary.org/obo/DOID_120 female reproductive organ cancer A female reproductive organ cancer that is located_in the paraurethral glands. http://purl.obolibrary.org/obo/DOID_14067 Plasmodium falciparum malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. http://purl.obolibrary.org/obo/DOID_0070025 X-linked dyskeratosis congenita http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_14068 blackwater fever http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. http://purl.obolibrary.org/obo/DOID_8107 obsolete S-T syndrome http://purl.obolibrary.org/obo/MIM_615083 susceptibility to colorectal cancer 12 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070026 Revesz syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_14069 cerebral malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. http://purl.obolibrary.org/obo/DOID_8115 obsolete recurrent childhood cerebral astrocytoma http://purl.obolibrary.org/obo/MIM_615091 susceptibility to autism 19 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070027 CST3-related cerebral amyloid angiopathy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. http://purl.obolibrary.org/obo/DOID_14080 glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/DOID_446 primary hyperaldosteronism A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3. http://purl.obolibrary.org/obo/DOID_14081 toxic labyrinthitis http://purl.obolibrary.org/obo/DOID_1468 labyrinthitis A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. http://purl.obolibrary.org/obo/DOID_8120 obsolete adenocarcinoma in villous adenoma http://purl.obolibrary.org/obo/MIM_615134 susceptibility to cutaneous malignant melanoma 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070028 APP-related cerebral amyloid angiopathy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. http://purl.obolibrary.org/obo/DOID_14087 epicondylitis http://purl.obolibrary.org/obo/DOID_3342 bone inflammation disease A bone inflammation disease that results_in inflammation located_in epicondyle. http://purl.obolibrary.org/obo/DOID_8121 obsolete metastatic extra-osseous Ewing's sarcoma http://purl.obolibrary.org/obo/MIM_615197 susceptibility to restless legs syndrome 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070029 ITM2B-related cerebral amyloid angiopathy 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_14092 renal artery atheroma http://purl.obolibrary.org/obo/DOID_2388 renal artery disease An atherosclerosis of the renal artery. http://purl.obolibrary.org/obo/DOID_8131 obsolete sclerosing mucoepidermoid thyroid carcinoma with eosinophilia http://purl.obolibrary.org/obo/MIM_615371 susceptibility to neonatal pulmonary hypertension http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070030 ITM2B-related cerebral amyloid angiopathy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. http://purl.obolibrary.org/obo/DOID_14095 boutonneuse fever http://purl.obolibrary.org/obo/DOID_11104 spotted fever A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. http://purl.obolibrary.org/obo/DOID_8136 obsolete transitional cell carcinoma of the ureter with mixed differentiation http://purl.obolibrary.org/obo/MIM_615529 susceptibility to craniosynostosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070031 autosomal dominant intellectual developmental disorder 1 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. http://purl.obolibrary.org/obo/DOID_14110 anus cancer http://purl.obolibrary.org/obo/DOID_5672 large intestine cancer A large intestine cancer that is located_in the anus. http://purl.obolibrary.org/obo/DOID_8145 obsolete metastatic neoplasm to the gallbladder http://purl.obolibrary.org/obo/MIM_615545 susceptibility to acute lymphoblastic leukemia 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070032 autosomal dominant intellectual developmental disorder 2 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_14115 toxic shock syndrome http://purl.obolibrary.org/obo/DOID_0050339 commensal bacterial infectious disease A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. http://purl.obolibrary.org/obo/DOID_8146 obsolete anaplastic secondary supratentorial astrocytic neoplasm http://purl.obolibrary.org/obo/MIM_615557 susceptibility to melioidosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070033 autosomal dominant intellectual developmental disorder 3 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. http://purl.obolibrary.org/obo/DOID_14118 familial lipoprotein lipase deficiency http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. http://purl.obolibrary.org/obo/DOID_8148 obsolete recurrent childhood malignant germ cell tumor http://purl.obolibrary.org/obo/MIM_615848 obsolete susceptibility to cutaneous malignant melanoma 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070034 autosomal dominant intellectual developmental disorder 4 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. http://purl.obolibrary.org/obo/DOID_1412 bacteriuria http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease which consists of the presence of bacteria in urine. http://purl.obolibrary.org/obo/DOID_8152 obsolete distal 1/3 of common bile duct adenocarcinoma http://purl.obolibrary.org/obo/MIM_616106 pustular psoriasis susceptibility 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070035 autosomal dominant intellectual developmental disorder 5 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. http://purl.obolibrary.org/obo/DOID_14130 lateral cystocele http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls. http://purl.obolibrary.org/obo/DOID_8163 obsolete gallbladder cancer unresectable http://purl.obolibrary.org/obo/MIM_616818 susceptibility to IgA nephropathy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070036 autosomal dominant intellectual developmental disorder 6 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. http://purl.obolibrary.org/obo/DOID_14131 midline cystocele http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall. http://purl.obolibrary.org/obo/DOID_8192 obsolete recurrent vulva cancer http://purl.obolibrary.org/obo/MIM_616871 susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070037 autosomal dominant intellectual developmental disorder 7 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. http://purl.obolibrary.org/obo/DOID_14133 Masters-Allen syndrome http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery. http://purl.obolibrary.org/obo/DOID_8194 obsolete recurrent pediatric hepatoma http://purl.obolibrary.org/obo/MIM_617075 susceptibility to nasopharyngeal carcinoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070038 autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_1414 ovarian dysfunction http://purl.obolibrary.org/obo/DOID_1100 ovarian disease An ovarian disease that is characterized by irregular or absent ovulation. http://purl.obolibrary.org/obo/DOID_8197 obsolete ovarian dermoid cyst with melanoma http://purl.obolibrary.org/obo/MIM_617349 susceptibility to familial thoracic aortic aneurysm 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070039 NESCAV syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. http://purl.obolibrary.org/obo/DOID_14146 ureterolithiasis http://purl.obolibrary.org/obo/DOID_1426 ureteral disease An ureteral disease this is characterized by the formation of stoney concentrations in the ureter. http://purl.obolibrary.org/obo/DOID_8199 obsolete bursa syphilis http://purl.obolibrary.org/obo/MIM_617892 susceptibility to amyotrophic lateral sclerosis 24 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070040 autosomal dominant intellectual developmental disorder 10 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. http://purl.obolibrary.org/obo/DOID_14150 spinal cord lymphoma http://purl.obolibrary.org/obo/DOID_5772 central nervous system hematologic cancer A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. http://purl.obolibrary.org/obo/DOID_8205 obsolete alloimmunization http://purl.obolibrary.org/obo/MIM_617921 susceptibility to amyotrophic lateral sclerosis 25 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070041 autosomal dominant intellectual developmental disorder 11 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. http://purl.obolibrary.org/obo/DOID_14159 obstructive hydrocephalus http://purl.obolibrary.org/obo/DOID_10908 hydrocephalus A hydrocephalus characterized by cerebrospinal fluid obstruction in the ventricular system. http://purl.obolibrary.org/obo/DOID_8219 obsolete recurrent epithelioid sarcoma http://purl.obolibrary.org/obo/MIM_618231 susceptibility to epidermodysplasia verruciformis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070042 Coffin-Siris syndrome 1 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. http://purl.obolibrary.org/obo/DOID_1417 choroid disease http://purl.obolibrary.org/obo/DOID_3480 uveal disease An uveal disease that is located_in the choroid. http://purl.obolibrary.org/obo/DOID_8220 obsolete recurrent extraosseous Ewing's sarcoma http://purl.obolibrary.org/obo/MIM_618267 susceptibility to epidermodysplasia verruciformis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070043 autosomal dominant intellectual developmental disorder 13 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. http://purl.obolibrary.org/obo/DOID_14176 selective IgG deficiency disease http://purl.obolibrary.org/obo/DOID_11702 dysgammaglobulinemia A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions. http://purl.obolibrary.org/obo/DOID_8222 obsolete adenocarcinoma in tubular adenoma http://purl.obolibrary.org/obo/MIM_618307 obsolete susceptibility to epidermodysplasia verruciformis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070044 Coffin-Siris syndrome 2 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. http://purl.obolibrary.org/obo/DOID_14179 X-linked agammaglobulinemia http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. http://purl.obolibrary.org/obo/DOID_8228 obsolete metastatic extraskeletal osteosarcoma http://purl.obolibrary.org/obo/DOID_8229 obsolete metastatic small intestinal adenocarcinoma http://purl.obolibrary.org/obo/MIM_618309 obsolete susceptibility to epidermodysplasia verruciformis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070045 Coffin-Siris syndrome 3 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. http://purl.obolibrary.org/obo/DOID_14188 frozen shoulder http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion. http://purl.obolibrary.org/obo/DOID_8234 obsolete malignant hemangiopericytoma recurrent http://purl.obolibrary.org/obo/MIM_300464 susceptibility to coronary heart disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070046 Coffin-Siris syndrome 4 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_0070047 Schuurs-Hoeijmakers Syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. http://purl.obolibrary.org/obo/DOID_14213 hypophosphatasia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. http://purl.obolibrary.org/obo/DOID_14218 dihydropyrimidine dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_653 purine-pyrimidine metabolic disorder A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. http://purl.obolibrary.org/obo/DOID_8238 obsolete metastatic endometrial carcinoma http://purl.obolibrary.org/obo/MIM_300509 susceptibility to dyslexia 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070048 GAND syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_14221 abdominal obesity-metabolic syndrome 1 http://purl.obolibrary.org/obo/DOID_0060611 abdominal obesity-metabolic syndrome An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. http://purl.obolibrary.org/obo/DOID_8244 obsolete bone recurrent PNET http://purl.obolibrary.org/obo/MIM_600131 susceptibility to childhood absence epilepsy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070049 autosomal dominant intellectual developmental disorder 19 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. http://purl.obolibrary.org/obo/DOID_14223 ochronosis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions. http://purl.obolibrary.org/obo/DOID_14225 acute frontal sinusitis http://purl.obolibrary.org/obo/DOID_10791 frontal sinusitis A frontal sinusitis which lasts for less than 4 weeks. http://purl.obolibrary.org/obo/DOID_8246 obsolete breast myoid hamartoma http://purl.obolibrary.org/obo/DOID_14227 azoospermia http://purl.obolibrary.org/obo/DOID_12336 male infertility A male infertility disease characterized by the absence of any measurable level of sperm in semen. http://purl.obolibrary.org/obo/MIM_600156 susceptibility to hirschsprung disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. http://purl.obolibrary.org/obo/DOID_8257 obsolete transitional cell carcinoma of the ureter with squamous differentiation http://purl.obolibrary.org/obo/DOID_14228 oligospermia http://purl.obolibrary.org/obo/DOID_12336 male infertility A male fertility issue defined as a low sperm concentration in the ejaculate. http://purl.obolibrary.org/obo/DOID_14230 scleromalacia perforans http://purl.obolibrary.org/obo/DOID_11343 scleral disease A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis. http://purl.obolibrary.org/obo/MIM_600202 susceptibility to dyslexia 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070051 autosomal dominant intellectual developmental disorder 21 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_8269 obsolete adenocarcinoma in adenomatous polyposis coli http://purl.obolibrary.org/obo/DOID_14239 gastrointestinal tularemia http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. http://purl.obolibrary.org/obo/MIM_602477 susceptibility to idiopathic generalized epilepsy 17 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070052 autosomal dominant intellectual developmental disorder 22 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. http://purl.obolibrary.org/obo/DOID_8276 obsolete Hodgkin-like posttransplantation lymphoproliferative disease http://purl.obolibrary.org/obo/DOID_14243 chronic perichondritis of pinna http://purl.obolibrary.org/obo/DOID_222 perichondritis of auricle A perichondritis of auricle which is persistent and long-lasting. http://purl.obolibrary.org/obo/MIM_603918 susceptibility to essential hypertension 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070053 autosomal dominant intellectual developmental disorder 23 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. http://purl.obolibrary.org/obo/DOID_0070054 Vulto-van Silfout-de Vries syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_0070055 Xia-Gibbs Syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. http://purl.obolibrary.org/obo/DOID_0070056 autosomal dominant intellectual developmental disorder 26 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. http://purl.obolibrary.org/obo/DOID_0070057 Coffin-Siris syndrome 9 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. http://purl.obolibrary.org/obo/DOID_8281 obsolete recurrent malignant peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/DOID_8285 obsolete nonmetastatic epithelioid sarcoma http://purl.obolibrary.org/obo/DOID_14247 chronic purulent otitis media http://purl.obolibrary.org/obo/DOID_11506 suppurative otitis media A suppurative otitis media which is persistent and long-lasting. http://purl.obolibrary.org/obo/MIM_604254 susceptibility to dyslexia 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070058 Helsmoortel-Van Der Aa Syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. http://purl.obolibrary.org/obo/DOID_0070059 autosomal dominant intellectual developmental disorder 29 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. http://purl.obolibrary.org/obo/DOID_8286 obsolete metastatic epithelioid sarcoma http://purl.obolibrary.org/obo/DOID_14248 chronic atticoantral disease http://purl.obolibrary.org/obo/DOID_14247 chronic purulent otitis media A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. http://purl.obolibrary.org/obo/DOID_14250 Down syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. http://purl.obolibrary.org/obo/MIM_604329 susceptibility to essential hypertension 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070060 autosomal dominant intellectual developmental disorder 30 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. http://purl.obolibrary.org/obo/DOID_8287 obsolete Multiple Chondromatous hamartoma of lung http://purl.obolibrary.org/obo/DOID_14256 adult-onset Still's disease http://purl.obolibrary.org/obo/DOID_7148 rheumatoid arthritis A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain. http://purl.obolibrary.org/obo/MIM_604827 susceptibility to idiopathic generalized epilepsy 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070061 autosomal dominant intellectual developmental disorder 31 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. http://purl.obolibrary.org/obo/DOID_8289 obsolete breast adenolipoma http://purl.obolibrary.org/obo/DOID_1426 ureteral disease http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is located_in the ureter. http://purl.obolibrary.org/obo/MIM_606616 susceptibility to dyslexia 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606874 susceptibility to hirschsprung disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070062 Arboleda-Tham syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_829 obsolete crystal arthropathy http://purl.obolibrary.org/obo/DOID_8309 obsolete metastatic carcinoma from the small bowel http://purl.obolibrary.org/obo/DOID_14261 fragile X syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. http://purl.obolibrary.org/obo/MIM_606875 susceptibility to hirschsprung disease 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070063 autosomal dominant intellectual developmental disorder 33 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. http://purl.obolibrary.org/obo/DOID_8329 obsolete resectable small intestine carcinoma http://purl.obolibrary.org/obo/DOID_14262 oral candidiasis http://purl.obolibrary.org/obo/DOID_403 mouth disease A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. http://purl.obolibrary.org/obo/MIM_606896 susceptibility to dyslexia 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070064 autosomal dominant intellectual developmental disorder 34 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. http://purl.obolibrary.org/obo/DOID_8334 obsolete testicular intratubular germ cell neoplasia with extratubular extension http://purl.obolibrary.org/obo/DOID_14264 benign neonatal seizures http://purl.obolibrary.org/obo/DOID_0050702 neonatal period electroclinical syndrome A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. http://purl.obolibrary.org/obo/DOID_14265 pulmonary valve insufficiency http://purl.obolibrary.org/obo/DOID_5749 pulmonary valve disease A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. http://purl.obolibrary.org/obo/MIM_606972 susceptibility to idiopathic generalized epilepsy 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070065 autosomal dominant intellectual developmental disorder 35 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. http://purl.obolibrary.org/obo/DOID_8344 obsolete type 1b ALPS http://purl.obolibrary.org/obo/DOID_14275 atrophic vulva http://purl.obolibrary.org/obo/DOID_2059 vulvar disease A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization. http://purl.obolibrary.org/obo/MIM_607329 susceptibility to essential hypertension 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607339 susceptibility to coronary heart disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607628 susceptibility to idiopathic generalized epilepsy 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070066 autosomal dominant intellectual developmental disorder 36 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. http://purl.obolibrary.org/obo/DOID_8345 obsolete type 2 ALPS http://purl.obolibrary.org/obo/DOID_1428 endocrine pancreas disease http://purl.obolibrary.org/obo/DOID_26 pancreas disease A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream. http://purl.obolibrary.org/obo/MIM_607682 susceptibility to idiopathic generalized epilepsy 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070067 White-Sutton syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_8348 obsolete localized PNET of bone http://purl.obolibrary.org/obo/DOID_14287 brawny scleritis http://purl.obolibrary.org/obo/DOID_13794 anterior scleritis An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. http://purl.obolibrary.org/obo/MIM_608035 susceptibility to cutaneous malignant melanoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070068 autosomal dominant intellectual developmental disorder 38 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/DOID_8349 obsolete metastatic peripheral neuroepithelioma of bone http://purl.obolibrary.org/obo/DOID_8365 obsolete inferior vena cava malignant neoplasm http://purl.obolibrary.org/obo/DOID_14289 Ebstein anomaly http://purl.obolibrary.org/obo/DOID_0050826 tricuspid valve disease A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. http://purl.obolibrary.org/obo/MIM_608316 susceptibility to coronary heart disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070069 autosomal dominant intellectual developmental disorder 39 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. http://purl.obolibrary.org/obo/DOID_14291 Noonan syndrome with multiple lentigines http://purl.obolibrary.org/obo/DOID_0080690 RASopathy A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. http://purl.obolibrary.org/obo/DOID_8366 obsolete esophageal adenocarcinoma recurrent http://purl.obolibrary.org/obo/MIM_608318 susceptibility to coronary heart disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070070 autosomal dominant intellectual developmental disorder 40 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_14292 vulvar dystrophy http://purl.obolibrary.org/obo/DOID_2059 vulvar disease A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching. http://purl.obolibrary.org/obo/DOID_8376 obsolete mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis http://purl.obolibrary.org/obo/DOID_8381 obsolete ectopic calcitonin production http://purl.obolibrary.org/obo/MIM_608462 susceptibility to hirschsprung disease 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070071 autosomal dominant intellectual developmental disorder 41 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. http://purl.obolibrary.org/obo/DOID_14305 tuberculous empyema http://purl.obolibrary.org/obo/DOID_3798 pleural empyema A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. http://purl.obolibrary.org/obo/MIM_608742 susceptibility to essential hypertension 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_8382 obsolete recurrent endometrial cancer http://purl.obolibrary.org/obo/DOID_0070072 autosomal dominant intellectual developmental disorder 42 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_14319 pleuropneumonia http://purl.obolibrary.org/obo/DOID_552 pneumonia A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. http://purl.obolibrary.org/obo/DOID_1432 blindness http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by a lack or loss of vision. http://purl.obolibrary.org/obo/MIM_608762 susceptibility to idiopathic generalized epilepsy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_8386 obsolete ectopic chorionic gonadotropin secretion disease http://purl.obolibrary.org/obo/MIM_608995 susceptibility to dyslexia 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070073 autosomal dominant intellectual developmental disorder 43 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. http://purl.obolibrary.org/obo/DOID_14320 generalized anxiety disorder http://purl.obolibrary.org/obo/DOID_2030 anxiety disorder An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. http://purl.obolibrary.org/obo/DOID_8387 obsolete metastatic non-cutaneous melanoma http://purl.obolibrary.org/obo/MIM_609750 susceptibility to idiopathic generalized epilepsy 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610261 susceptibility to essential hypertension 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070074 autosomal dominant intellectual developmental disorder 44 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. http://purl.obolibrary.org/obo/DOID_0070077 schizophrenia 1 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35. http://purl.obolibrary.org/obo/DOID_14323 Marfan syndrome http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. http://purl.obolibrary.org/obo/DOID_8388 obsolete mixed embryonal carcinoma and seminoma of the testis http://purl.obolibrary.org/obo/MIM_610262 susceptibility to essential hypertension 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070078 schizophrenia 2 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. http://purl.obolibrary.org/obo/DOID_14324 Plasmodium malariae malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. http://purl.obolibrary.org/obo/DOID_8390 obsolete mixed choriocarcinoma and seminoma of the testis http://purl.obolibrary.org/obo/MIM_610948 susceptibility to essential hypertension 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611014 susceptibility to essential hypertension 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070079 schizophrenia 3 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23. http://purl.obolibrary.org/obo/DOID_0070080 schizophrenia 4 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_14325 mixed malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria that involves infection with more than one species of Plasmodium at the same time. http://purl.obolibrary.org/obo/DOID_8401 obsolete malignant hemangiopericytoma nonmetastatic http://purl.obolibrary.org/obo/DOID_8413 obsolete recurrent extraskeletal osteosarcoma http://purl.obolibrary.org/obo/MIM_611136 susceptibility to idiopathic generalized epilepsy 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070081 schizophrenia 5 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. http://purl.obolibrary.org/obo/DOID_14330 Parkinson's disease http://purl.obolibrary.org/obo/DOID_0050890 synucleinopathy A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. http://purl.obolibrary.org/obo/DOID_8429 obsolete testicular seminoma with syncytiotrophoblastic cells http://purl.obolibrary.org/obo/MIM_611139 susceptibility to coronary heart disease 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070082 schizophrenia 6 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_14336 estrogen excess http://purl.obolibrary.org/obo/DOID_1414 ovarian dysfunction An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen. http://purl.obolibrary.org/obo/DOID_8435 obsolete Drug dependence complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/MIM_611644 susceptibility to hirschsprung disease 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070083 schizophrenia 7 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_0070084 schizophrenia 8 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p. http://purl.obolibrary.org/obo/DOID_0070085 schizophrenia 9 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. http://purl.obolibrary.org/obo/DOID_14365 systemic primary carnitine deficiency disease http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. http://purl.obolibrary.org/obo/DOID_844 obsolete chronic depressive disorder http://purl.obolibrary.org/obo/MIM_611934 susceptibility to idiopathic generalized epilepsy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070086 schizophrenia 10 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_14374 norwegian scabies http://purl.obolibrary.org/obo/DOID_8295 scabies A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. http://purl.obolibrary.org/obo/DOID_8444 obsolete nerve root and plexus disorder http://purl.obolibrary.org/obo/DOID_8449 obsolete vitamin B deficiency http://purl.obolibrary.org/obo/MIM_612030 susceptibility to coronary heart disease 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070087 schizophrenia 11 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. http://purl.obolibrary.org/obo/DOID_14384 parietal lobe neoplasm http://purl.obolibrary.org/obo/DOID_368 cerebrum cancer A cerebrum cancer that is located_in the parietal lobe. http://purl.obolibrary.org/obo/DOID_8451 obsolete vitamin deficiency http://purl.obolibrary.org/obo/DOID_8452 obsolete malnutrition http://purl.obolibrary.org/obo/DOID_8453 obsolete folic acid deficiency http://purl.obolibrary.org/obo/MIM_612263 susceptibility to cutaneous malignant melanoma 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612899 susceptibility to idiopathic generalized epilepsy 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070088 schizophrenia 12 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. http://purl.obolibrary.org/obo/DOID_14392 thrombophlebitis migrans http://purl.obolibrary.org/obo/DOID_3875 thrombophlebitis A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. http://purl.obolibrary.org/obo/DOID_8458 obsolete Thiamine and niacin deficiency state http://purl.obolibrary.org/obo/DOID_8459 obsolete vitamin B 12 deficiency http://purl.obolibrary.org/obo/MIM_613060 susceptibility to idiopathic generalized epilepsy 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070089 schizophrenia 13 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. http://purl.obolibrary.org/obo/DOID_14397 protozoal dysentery http://purl.obolibrary.org/obo/DOID_12384 dysentery A dysentery that involves protozoan infection. http://purl.obolibrary.org/obo/DOID_846 obsolete arthropathy associated with hematological disorder http://purl.obolibrary.org/obo/MIM_614847 susceptibility to idiopathic generalized epilepsy 12 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070090 schizophrenia 14 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. http://purl.obolibrary.org/obo/DOID_1440 Machado-Joseph disease http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. http://purl.obolibrary.org/obo/DOID_8467 obsolete Retinoschisis and retinal cysts http://purl.obolibrary.org/obo/MIM_616685 susceptibility to idiopathic generalized epilepsy 14 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070091 schizophrenia 15 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. http://purl.obolibrary.org/obo/DOID_14400 capillary leak syndrome http://purl.obolibrary.org/obo/DOID_1271 capillary disease A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues. http://purl.obolibrary.org/obo/DOID_8477 obsolete malabsorption syndrome http://purl.obolibrary.org/obo/MIM_618357 susceptibility to idiopathic generalized epilepsy 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070092 schizophrenia 16 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia http://purl.obolibrary.org/obo/DOID_0050753 cerebellar ataxia A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_8487 obsolete secondary retinal cyst http://purl.obolibrary.org/obo/MIM_618596 susceptibility to idiopathic generalized epilepsy 16 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070093 schizophrenia 18 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. http://purl.obolibrary.org/obo/DOID_14415 Legg-Calve-Perthes disease http://purl.obolibrary.org/obo/DOID_8125 osteochondrosis An osteochondrosis that results_in death and fracture located_in hip joint. http://purl.obolibrary.org/obo/DOID_8489 obsolete disorder of amniotic fluid and membranes http://purl.obolibrary.org/obo/MIM_619521 susceptibility to idiopathic generalized epilepsy 18 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070094 oculocutaneous albinism type IA http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. http://purl.obolibrary.org/obo/DOID_14418 dracunculiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. http://purl.obolibrary.org/obo/DOID_8490 obsolete primary hypotonic uterine dysfunction http://purl.obolibrary.org/obo/MIM_620442 susceptibility to familial breast-ovarian cancer 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070095 oculocutaneous albinism type IB http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. http://purl.obolibrary.org/obo/DOID_14422 dipetalonemiasis http://purl.obolibrary.org/obo/DOID_5614 eye disease A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. http://purl.obolibrary.org/obo/DOID_8491 obsolete Prolonged first stage of labor http://purl.obolibrary.org/obo/MIM_621064 susceptibility to idiopathic generalized epilepsy 19 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0070096 oculocutaneous albinism type II http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. http://purl.obolibrary.org/obo/DOID_8493 obsolete abnormality of forces of labor http://purl.obolibrary.org/obo/NCBITaxon_10255 Variola virus http://purl.obolibrary.org/obo/NCBITaxon_3431487 Orthopoxvirus variola http://purl.obolibrary.org/obo/DOID_0070097 oculocutaneous albinism type III http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. http://purl.obolibrary.org/obo/DOID_14435 chronic tubotympanic suppurative otitis media http://purl.obolibrary.org/obo/DOID_11506 suppurative otitis media A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. http://purl.obolibrary.org/obo/DOID_8494 obsolete dystocia http://purl.obolibrary.org/obo/NCBITaxon_108098 Human mastadenovirus B http://purl.obolibrary.org/obo/NCBITaxon_3241406 Mastadenovirus blackbeardi http://purl.obolibrary.org/obo/DOID_0070098 oculocutaneous albinism type IV http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. http://purl.obolibrary.org/obo/DOID_14443 cholinergic urticaria http://purl.obolibrary.org/obo/DOID_0060220 physical urticaria A physical urticaria induced by sweating. http://purl.obolibrary.org/obo/DOID_8495 obsolete prolonged labor http://purl.obolibrary.org/obo/HP_0003125 Reduced factor VIII activity http://purl.obolibrary.org/obo/HP_0030976 Abnormal factor VIII activity http://purl.obolibrary.org/obo/DOID_0070099 oculocutaneous albinism type V http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_14444 sclerosing keratitis http://purl.obolibrary.org/obo/DOID_9858 deep keratitis A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. http://purl.obolibrary.org/obo/DOID_14445 chronic closed-angle glaucoma http://purl.obolibrary.org/obo/DOID_1405 primary angle-closure glaucoma A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. http://purl.obolibrary.org/obo/DOID_8521 obsolete recurrent manic episodes http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/DOID_0070100 oculocutaneous albinism type VII http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. http://purl.obolibrary.org/obo/DOID_8523 obsolete nodular lymphoma involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/NCBITaxon_10404 Hepadnaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732515 Blubervirales http://purl.obolibrary.org/obo/DOID_0070111 Niemann-Pick disease type A http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. http://purl.obolibrary.org/obo/DOID_8524 obsolete nodular lymphoma http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/DOID_0070112 Niemann-Pick disease type B http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. http://purl.obolibrary.org/obo/DOID_14449 mixed gonadal dysgenesis http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis. http://purl.obolibrary.org/obo/DOID_8525 obsolete nodular lymphoma involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/NCBITaxon_2732515 Blubervirales http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/DOID_0070113 Niemann-Pick disease type C1 http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. http://purl.obolibrary.org/obo/DOID_14450 46 XX gonadal dysgenesis http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. http://purl.obolibrary.org/obo/DOID_8530 obsolete toxic gastroenteritis and colitis http://purl.obolibrary.org/obo/NCBITaxon_2743711 Danioninae http://purl.obolibrary.org/obo/NCBITaxon_2743709 Danionidae http://purl.obolibrary.org/obo/DOID_0070114 Niemann-Pick disease type C2 http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_14453 farmer's lung http://purl.obolibrary.org/obo/DOID_841 extrinsic allergic alveolitis An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. http://purl.obolibrary.org/obo/DOID_8539 obsolete recurrent manic episodes in full remission http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/DOID_0070115 Meckel syndrome 1 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_14456 Brucella melitensis brucellosis http://purl.obolibrary.org/obo/DOID_11077 brucellosis A brucellosis that involves an infection caused by Brucella melitensis in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. http://purl.obolibrary.org/obo/DOID_14457 Brucella abortus brucellosis http://purl.obolibrary.org/obo/DOID_11077 brucellosis A brucellosis that involves an infection caused by Brucella abortus in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. http://purl.obolibrary.org/obo/DOID_8540 obsolete Sezary's disease involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/DOID_0070116 Meckel syndrome 2 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. http://purl.obolibrary.org/obo/DOID_14464 neuroleptic malignant syndrome http://purl.obolibrary.org/obo/DOID_863 nervous system disease A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. http://purl.obolibrary.org/obo/DOID_8542 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/DOID_0070117 Meckel syndrome 3 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_14472 hantavirus pulmonary syndrome http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. http://purl.obolibrary.org/obo/DOID_8559 obsolete carcinoma in situ of female genital organs http://purl.obolibrary.org/obo/SO_0002315 increased_gene_product_level http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/DOID_0070118 Meckel syndrome 4 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. http://purl.obolibrary.org/obo/DOID_14482 pemphigoid gestationis http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis. http://purl.obolibrary.org/obo/DOID_8560 obsolete carcinoma in situ of breast and genitourinary system http://purl.obolibrary.org/obo/SO_0002316 decreased_gene_product_level http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/NCBITaxon_10240 Poxviridae http://purl.obolibrary.org/obo/NCBITaxon_2732527 Chitovirales http://purl.obolibrary.org/obo/DOID_0070119 Meckel syndrome 5 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. http://purl.obolibrary.org/obo/DOID_14484 sporotrichosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. http://purl.obolibrary.org/obo/DOID_14497 Wolman disease http://purl.obolibrary.org/obo/DOID_0080217 lysosomal acid lipase deficiency A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. http://purl.obolibrary.org/obo/DOID_8580 obsolete malignant histiocytosis http://purl.obolibrary.org/obo/NCBITaxon_10780 Parvoviridae http://purl.obolibrary.org/obo/NCBITaxon_2732534 Piccovirales http://purl.obolibrary.org/obo/DOID_0070120 Meckel syndrome 6 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. http://purl.obolibrary.org/obo/DOID_14499 Fabry disease http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. http://purl.obolibrary.org/obo/DOID_8583 obsolete Burkitt's tumor or lymphoma involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/NCBITaxon_37727 Talaromyces marneffei http://purl.obolibrary.org/obo/NCBITaxon_2752537 Talaromyces sect. Talaromyces http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_2732405 Duplornaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_2732408 Pisuviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/DOID_0070121 Meckel syndrome 7 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. http://purl.obolibrary.org/obo/DOID_14501 Sjogren-Larsson syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. http://purl.obolibrary.org/obo/DOID_8586 obsolete dysplasia of cervix http://purl.obolibrary.org/obo/NCBITaxon_11018 Togaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732544 Martellivirales http://purl.obolibrary.org/obo/DOID_0070122 Meckel syndrome 8 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_14502 cholesterol ester storage disease http://purl.obolibrary.org/obo/DOID_0080217 lysosomal acid lipase deficiency A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen. http://purl.obolibrary.org/obo/DOID_8587 obsolete Burkitt's tumor or lymphoma extranodal and solid organ sites http://purl.obolibrary.org/obo/NCBITaxon_11050 Flaviviridae http://purl.obolibrary.org/obo/NCBITaxon_2732545 Amarillovirales http://purl.obolibrary.org/obo/DOID_0070123 congenital nongoitrous hypothyroidism 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_0070124 congenital nongoitrous hypothyroidism 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. http://purl.obolibrary.org/obo/DOID_8592 obsolete reticulosarcoma involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/NCBITaxon_7961 Cyprinus http://purl.obolibrary.org/obo/NCBITaxon_2743694 Cyprininae http://purl.obolibrary.org/obo/DOID_0070125 congenital nongoitrous hypothyroidism 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_14512 candidal paronychia http://purl.obolibrary.org/obo/DOID_4123 nail disease A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. http://purl.obolibrary.org/obo/DOID_8598 obsolete mild degree recurrent episode manic disorder http://purl.obolibrary.org/obo/NCBITaxon_3079366 Hepeviridae http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/DOID_0070126 congenital nongoitrous hypothyroidism 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_14515 WAGR syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. http://purl.obolibrary.org/obo/DOID_14523 Argyll Robertson pupil http://purl.obolibrary.org/obo/DOID_11518 abnormal pupillary function An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. http://purl.obolibrary.org/obo/DOID_8599 obsolete Sezary's disease involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/NCBITaxon_2560066 Matonaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/DOID_0070127 congenital nongoitrous hypothyroidism 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. http://purl.obolibrary.org/obo/DOID_14525 Reye syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. http://purl.obolibrary.org/obo/DOID_14544 rete testis adenocarcinoma http://purl.obolibrary.org/obo/DOID_5639 rete testis neoplasm A rete testis neoplasm that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_14545 seminal vesicle adenocarcinoma http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer A male reproductive organ cancer that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_14547 sphenoid sinus squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma A squamous cell carcinoma that is located_in the sphenoid sinus. http://purl.obolibrary.org/obo/DOID_8600 obsolete carcinoid syndrome http://purl.obolibrary.org/obo/DOID_8604 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/NCBITaxon_12908 unclassified sequences http://purl.obolibrary.org/obo/NCBITaxon_2787823 unclassified entries http://purl.obolibrary.org/obo/DOID_0070128 congenital nongoitrous hypothyroidism 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. http://purl.obolibrary.org/obo/DOID_1455 geographic tongue http://purl.obolibrary.org/obo/DOID_1453 atrophic glossitis An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. http://purl.obolibrary.org/obo/DOID_8609 obsolete moderate degree recurrent episode manic disease http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732532 Sepolyvirales http://purl.obolibrary.org/obo/DOID_0070129 autosomal recessive cutis laxa type IID http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_14557 primary pulmonary hypertension http://purl.obolibrary.org/obo/DOID_12326 chronic pulmonary heart disease A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. http://purl.obolibrary.org/obo/DOID_8611 obsolete drug induced sleep disorder http://purl.obolibrary.org/obo/NCBITaxon_151340 Papillomaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732533 Zurhausenvirales http://purl.obolibrary.org/obo/DOID_0070130 autosomal dominant cutis laxa 1 http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. http://purl.obolibrary.org/obo/DOID_14566 disease of cellular proliferation http://purl.obolibrary.org/obo/DOID_4 disease A disease that is characterized by abnormally rapid cell division. http://purl.obolibrary.org/obo/DOID_8615 obsolete spontaneous abortion complicated by shock http://purl.obolibrary.org/obo/DOID_8620 obsolete reticulosarcoma involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/NCBITaxon_7954 Danio http://purl.obolibrary.org/obo/NCBITaxon_2743711 Danioninae http://purl.obolibrary.org/obo/DOID_0070131 autosomal dominant cutis laxa 3 http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_1459 hypothyroidism http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease A thyroid gland disease which involves an underproduction of thyroid hormone. http://purl.obolibrary.org/obo/DOID_1461 cholesterol embolism http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. http://purl.obolibrary.org/obo/DOID_14669 acrodysostosis http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. http://purl.obolibrary.org/obo/DOID_1467 serous labyrinthitis http://purl.obolibrary.org/obo/DOID_1468 labyrinthitis A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. http://purl.obolibrary.org/obo/DOID_8623 obsolete adhesions and disruptions of pupillary membranes http://purl.obolibrary.org/obo/NCBITaxon_2731360 Heunggongvirae http://purl.obolibrary.org/obo/NCBITaxon_2731341 Duplodnaviria http://purl.obolibrary.org/obo/NCBITaxon_2732092 Shotokuvirae http://purl.obolibrary.org/obo/NCBITaxon_2731342 Floreoviria http://purl.obolibrary.org/obo/DOID_0070132 autosomal recessive cutis laxa type IIIA http://purl.obolibrary.org/obo/DOID_0070143 autosomal recessive cutis laxa type III A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_14670 hypertelorism, microtia, facial clefting syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. http://purl.obolibrary.org/obo/DOID_8626 obsolete Sezary's disease involving spleen http://purl.obolibrary.org/obo/NCBITaxon_2731361 Peploviricota http://purl.obolibrary.org/obo/NCBITaxon_2731360 Heunggongvirae http://purl.obolibrary.org/obo/NCBITaxon_2731363 Herviviricetes http://purl.obolibrary.org/obo/NCBITaxon_2731361 Peploviricota http://purl.obolibrary.org/obo/DOID_0070133 autosomal recessive cutis laxa type IB http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_14671 multiple intestinal atresia http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21. http://purl.obolibrary.org/obo/DOID_8627 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/NCBITaxon_548681 Herpesvirales http://purl.obolibrary.org/obo/NCBITaxon_2731363 Herviviricetes http://purl.obolibrary.org/obo/DOID_0070134 autosomal recessive cutis laxa type IIA http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_14679 VACTERL association http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. http://purl.obolibrary.org/obo/DOID_8638 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/NCBITaxon_2732004 Varidnaviria http://purl.obolibrary.org/obo/DOID_0070135 autosomal recessive cutis laxa type IA http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_8639 obsolete alcohol withdrawal delirium http://purl.obolibrary.org/obo/DOID_1468 labyrinthitis http://purl.obolibrary.org/obo/DOID_3930 otitis interna An otitis interna which involves inflammation of the labyrinths. http://purl.obolibrary.org/obo/NCBITaxon_2732007 Nucleocytoviricota http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/DOID_0070136 autosomal dominant cutis laxa 2 http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_8640 obsolete reticulosarcoma involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/DOID_14681 Silver-Russell syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. http://purl.obolibrary.org/obo/DOID_14686 Axenfeld-Rieger syndrome http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects. http://purl.obolibrary.org/obo/NCBITaxon_2732008 Preplasmiviricota http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/DOID_0070137 autosomal recessive cutis laxa type IIB http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_8641 obsolete Hodgkin's paragranuloma involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/DOID_14687 diastrophic dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. http://purl.obolibrary.org/obo/NCBITaxon_2732525 Pokkesviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732007 Nucleocytoviricota http://purl.obolibrary.org/obo/DOID_0070138 autosomal recessive cutis laxa type IIIB http://purl.obolibrary.org/obo/DOID_0070143 autosomal recessive cutis laxa type III An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_8650 obsolete Hodgkin's granuloma involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/DOID_14693 Clouston syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. http://purl.obolibrary.org/obo/NCBITaxon_3412694 Polisuviricotina http://purl.obolibrary.org/obo/NCBITaxon_2732008 Preplasmiviricota http://purl.obolibrary.org/obo/DOID_0070139 autosomal recessive cutis laxa type IC http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_8653 obsolete Hodgkin's lymphoma, mixed cellularity, involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_8656 obsolete Sezary's disease involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/DOID_14694 Johanson-Blizzard syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732092 Shotokuvirae http://purl.obolibrary.org/obo/DOID_0070140 autosomal recessive cutis laxa type IIC http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_8664 obsolete nodular lymphoma involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/DOID_14695 galactokinase deficiency http://purl.obolibrary.org/obo/DOID_9870 galactosemia A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. http://purl.obolibrary.org/obo/NCBITaxon_2732409 Artverviricota http://purl.obolibrary.org/obo/NCBITaxon_2732397 Pararnavirae http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. http://purl.obolibrary.org/obo/DOID_8667 obsolete Hodgkin's sarcoma involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/DOID_14699 thrombocytopenia-absent radius syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other. http://purl.obolibrary.org/obo/NCBITaxon_2732459 Resentoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732405 Duplornaviricota http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. http://purl.obolibrary.org/obo/DOID_8674 obsolete lymphosarcoma involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/DOID_1470 major depressive disorder http://purl.obolibrary.org/obo/DOID_1596 depressive disorder A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality. http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/DOID_0070143 autosomal recessive cutis laxa type III http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. http://purl.obolibrary.org/obo/DOID_8676 obsolete malignant histiocytosis involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/DOID_14701 propionic acidemia http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. http://purl.obolibrary.org/obo/NCBITaxon_2732462 Flasuviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. http://purl.obolibrary.org/obo/DOID_8690 obsolete Mycosis fungoides involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/DOID_14702 branchiootorenal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732408 Pisuviricota http://purl.obolibrary.org/obo/DOID_0070145 hereditary sensory and autonomic neuropathy type 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_8701 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/DOID_14705 Pfeiffer syndrome http://purl.obolibrary.org/obo/DOID_12960 acrocephalosyndactylia An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732409 Artverviricota http://purl.obolibrary.org/obo/DOID_0070146 congenital insensitivity to pain with anhidrosis http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_8716 obsolete lymphosarcoma and reticulosarcoma http://purl.obolibrary.org/obo/DOID_872 obsolete soft tissue disease http://purl.obolibrary.org/obo/DOID_14711 FG syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/DOID_0070147 hereditary sensory neuropathy type 2C http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_8742 obsolete Hodgkin's granuloma involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/DOID_14717 centronuclear myopathy http://purl.obolibrary.org/obo/DOID_422 congenital structural myopathy A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. http://purl.obolibrary.org/obo/NCBITaxon_2732422 Quintoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/DOID_0070148 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux. http://purl.obolibrary.org/obo/DOID_8745 obsolete universal ulcerative colitis http://purl.obolibrary.org/obo/DOID_14720 Ehlers-Danlos syndrome classic type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. http://purl.obolibrary.org/obo/NCBITaxon_2732532 Sepolyvirales http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/DOID_0070149 hereditary sensory and autonomic neuropathy type 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_8747 obsolete subacute myeloid leukemia http://purl.obolibrary.org/obo/DOID_8748 obsolete acute dermatitis due to solar radiation http://purl.obolibrary.org/obo/DOID_14723 beta-ketothiolase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. http://purl.obolibrary.org/obo/NCBITaxon_2732533 Zurhausenvirales http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/DOID_0070150 hereditary sensory and autonomic neuropathy type 2B http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the RETREG1 gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_8749 obsolete actinic reticuloid and actinic granuloma http://purl.obolibrary.org/obo/DOID_14725 autosomal dominant microcephaly http://purl.obolibrary.org/obo/DOID_10907 microcephaly A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene. http://purl.obolibrary.org/obo/NCBITaxon_2732534 Piccovirales http://purl.obolibrary.org/obo/NCBITaxon_2732422 Quintoviricetes http://purl.obolibrary.org/obo/DOID_0070151 hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous or compound heterozygous in the DST gene on chromosome 6p12. http://purl.obolibrary.org/obo/DOID_8751 obsolete Hodgkin's granuloma involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_14731 Weaver syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. http://purl.obolibrary.org/obo/NCBITaxon_2732541 Reovirales http://purl.obolibrary.org/obo/NCBITaxon_2732459 Resentoviricetes http://purl.obolibrary.org/obo/DOID_0070152 hereditary sensory and autonomic neuropathy type 1A http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_8754 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/DOID_14735 hereditary angioedema http://purl.obolibrary.org/obo/DOID_1558 angioedema An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes. http://purl.obolibrary.org/obo/DOID_14737 craniofrontonasal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. http://purl.obolibrary.org/obo/NCBITaxon_2732544 Martellivirales http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/DOID_0070153 hereditary sensory and autonomic neuropathy type 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_8758 obsolete lymphosarcoma involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732545 Amarillovirales http://purl.obolibrary.org/obo/NCBITaxon_2732462 Flasuviricetes http://purl.obolibrary.org/obo/DOID_0070154 hereditary sensory neuropathy type 1F http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment that appears during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_1474 aggressive periodontitis http://purl.obolibrary.org/obo/DOID_824 periodontitis A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. http://purl.obolibrary.org/obo/DOID_8766 obsolete lymphosarcoma involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/NCBITaxon_464095 Picornavirales http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/DOID_0070155 hereditary sensory and autonomic neuropathy type 2A http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. http://purl.obolibrary.org/obo/NCBITaxon_76804 Nidovirales http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732527 Chitovirales http://purl.obolibrary.org/obo/NCBITaxon_2732525 Pokkesviricetes http://purl.obolibrary.org/obo/DOID_14743 trichorhinophalangeal syndrome type I http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). http://purl.obolibrary.org/obo/DOID_14744 Partington syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. http://purl.obolibrary.org/obo/DOID_8767 obsolete malignant histiocytosis involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/DOID_0070156 hereditary sensory neuropathy type 1D http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/DOID_14748 Sotos syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. http://purl.obolibrary.org/obo/DOID_8768 obsolete nodular lymphoma involving spleen http://purl.obolibrary.org/obo/DOID_0070157 hereditary sensory and autonomic neuropathy type 1C http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/HP_0025745 Abnormal urine amino acid level http://purl.obolibrary.org/obo/DOID_14749 methylmalonic acidemia http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia that involves an accumulation of methylmalonic acid in the blood. http://purl.obolibrary.org/obo/DOID_8769 obsolete malignant histiocytosis involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/DOID_0070158 hereditary sensory neuropathy type 1E http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/NCBITaxon_3052489 Orthohantavirus negraense http://purl.obolibrary.org/obo/NCBITaxon_3431295 Orthohantavirus mamorense http://purl.obolibrary.org/obo/DOID_1475 lymphangioma http://purl.obolibrary.org/obo/DOID_60006 benign vascular tumor A benign vascular tumor that is composed of dilated lymphatic channels. http://purl.obolibrary.org/obo/DOID_8770 obsolete reticulosarcoma involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/DOID_0070159 X-linked hereditary sensory neuropathy http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A hereditary sensory and autonomic neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life without autonomic dysfunction. http://purl.obolibrary.org/obo/SYMP_0000375 severe abdominal cramp http://purl.obolibrary.org/obo/SYMP_0000001 abdominal cramp http://purl.obolibrary.org/obo/DOID_14753 isovaleric acidemia http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. http://purl.obolibrary.org/obo/DOID_8773 obsolete nodular lymphoma involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/DOID_0070160 atypical hereditary sensory neuropathy http://purl.obolibrary.org/obo/DOID_0050548 hereditary sensory and autonomic neuropathy A hereditary sensory and autonomic neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. http://purl.obolibrary.org/obo/SYMP_0020026 chronic inflammation http://purl.obolibrary.org/obo/SYMP_0000061 inflammation http://purl.obolibrary.org/obo/DOID_14755 argininosuccinic aciduria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. http://purl.obolibrary.org/obo/DOID_8775 obsolete ulcerative proctosigmoiditis http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by progressive, primarily distal reduced sensation to pain, temperature, and touch with congenital to juvenile onset, autosomal recessive inheritance, and variable, limited autonomic and muscular dysfunction. Loss of sensation commonly results in Charcot joints, unnoticed lacerations, acral mutilations, and osteomyelitis. http://purl.obolibrary.org/obo/SYMP_0000437 earache http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/DOID_14756 vascular type Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. http://purl.obolibrary.org/obo/DOID_8794 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary sensory and autonomic neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. http://purl.obolibrary.org/obo/SYMP_0000202 acute painful vision loss http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/DOID_14757 Ehlers-Danlos syndrome hypermobility type http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. http://purl.obolibrary.org/obo/DOID_8795 obsolete Hodgkin's granuloma involving spleen http://purl.obolibrary.org/obo/DOID_0080202 adenoid cystic carcinoma http://purl.obolibrary.org/obo/DOID_8858 tonsil cancer An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. http://purl.obolibrary.org/obo/SYMP_0000230 body ache http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/DOID_14759 autosomal recessive type IV Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. http://purl.obolibrary.org/obo/DOID_8798 obsolete Hodgkin's lymphoma, mixed cellularity, involving spleen http://purl.obolibrary.org/obo/DOID_0080204 renal hypoplasia http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. http://purl.obolibrary.org/obo/SYMP_0020023 bone pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract http://purl.obolibrary.org/obo/DOID_557 kidney disease A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. http://purl.obolibrary.org/obo/DOID_14761 Greig cephalopolysyndactyly syndrome http://purl.obolibrary.org/obo/DOID_12960 acrocephalosyndactylia An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. http://purl.obolibrary.org/obo/DOID_8803 obsolete repetitive intrusions of sleep http://purl.obolibrary.org/obo/SYMP_0000291 gas pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/DOID_0080206 congenital anomalies of the kidney and urinary tract 1 http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. http://purl.obolibrary.org/obo/SYMP_0000404 dyspareunia http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/DOID_14762 calcaneonavicular coalition http://purl.obolibrary.org/obo/DOID_11971 synostosis A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. http://purl.obolibrary.org/obo/DOID_14764 Larsen syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities. http://purl.obolibrary.org/obo/DOID_8806 obsolete malignant histiocytosis involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/DOID_0080207 congenital anomalies of the kidney and urinary tract 2 http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. http://purl.obolibrary.org/obo/SYMP_0000576 chest pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/DOID_0080208 metabolic dysfunction-associated steatotic liver disease http://purl.obolibrary.org/obo/DOID_9452 steatotic liver disease A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. http://purl.obolibrary.org/obo/DOID_14766 renal agenesis http://purl.obolibrary.org/obo/DOID_557 kidney disease A renal disease that is characterized by the failure of one or both kidneys to develop. http://purl.obolibrary.org/obo/DOID_8807 obsolete allergic gastroenteritis and colitis http://purl.obolibrary.org/obo/SYMP_0000362 progressive prostration http://purl.obolibrary.org/obo/SYMP_0000116 prostration http://purl.obolibrary.org/obo/DOID_0111139 mitochondrial complex III deficiency http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. http://purl.obolibrary.org/obo/DOID_14768 Saethre-Chotzen syndrome http://purl.obolibrary.org/obo/DOID_12960 acrocephalosyndactylia An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. http://purl.obolibrary.org/obo/DOID_14773 cartilage-hair hypoplasia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_8811 obsolete malignant histiocytosis involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/SYMP_0000129 severe conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000128 conjunctivitis http://purl.obolibrary.org/obo/DOID_0111140 IGSF1 deficiency syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. http://purl.obolibrary.org/obo/SYMP_0000757 mild conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000128 conjunctivitis http://purl.obolibrary.org/obo/DOID_0111141 delayed sleep phase syndrome http://purl.obolibrary.org/obo/DOID_535 sleep disorder A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. http://purl.obolibrary.org/obo/DOID_14775 brittle cornea syndrome 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_8820 obsolete ulcerative ileocolitis http://purl.obolibrary.org/obo/SYMP_0000707 flaccid muscle tone http://purl.obolibrary.org/obo/SYMP_0000183 muscle symptom http://purl.obolibrary.org/obo/DOID_0111142 oligomeganephronia http://purl.obolibrary.org/obo/DOID_0080204 renal hypoplasia A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons. http://purl.obolibrary.org/obo/DOID_14778 blepharophimosis, ptosis, and epicanthus inversus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3. http://purl.obolibrary.org/obo/DOID_8825 obsolete Hodgkin's paragranuloma involving spleen http://purl.obolibrary.org/obo/DOID_8828 obsolete systemic inflammatory response syndrome http://purl.obolibrary.org/obo/SYMP_0000094 muscle weakness http://purl.obolibrary.org/obo/SYMP_0000183 muscle symptom http://purl.obolibrary.org/obo/SYMP_0000234 cloudy cornea http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. http://purl.obolibrary.org/obo/SYMP_0000240 corneal opacity http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0000241 corneal ulcers http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/DOID_14780 KBG syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. http://purl.obolibrary.org/obo/DOID_8832 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/DOID_0111144 preterm premature rupture of the membranes http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. http://purl.obolibrary.org/obo/SYMP_0000314 keratitis http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0000282 fixed dilated pupils http://purl.obolibrary.org/obo/SYMP_0000254 dilated pupil http://purl.obolibrary.org/obo/DOID_14784 olivopontocerebellar atrophy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. http://purl.obolibrary.org/obo/DOID_8836 obsolete Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/DOID_0111145 ureteropelvic junction obstruction http://purl.obolibrary.org/obo/DOID_5200 urinary tract obstruction A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter. http://purl.obolibrary.org/obo/SYMP_0000396 mydriasis http://purl.obolibrary.org/obo/SYMP_0000254 dilated pupil http://purl.obolibrary.org/obo/DOID_14789 spondyloepiphyseal dysplasia congenita http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. http://purl.obolibrary.org/obo/DOID_8837 obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/DOID_8844 obsolete tuberculous erythema nodosum http://purl.obolibrary.org/obo/DOID_0111146 acquired von Willebrand syndrome http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. http://purl.obolibrary.org/obo/SYMP_0000339 occasional diplopia http://purl.obolibrary.org/obo/SYMP_0000258 double vision http://purl.obolibrary.org/obo/DOID_14791 Leber congenital amaurosis http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. http://purl.obolibrary.org/obo/DOID_8847 obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/DOID_0111147 angioimmunoblastic T-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050749 peripheral T-cell lymphoma A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. http://purl.obolibrary.org/obo/SYMP_0020005 acquired color vision deficiency http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). http://purl.obolibrary.org/obo/DOID_8852 obsolete Hodgkin's granuloma involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/SYMP_0020009 blind spot http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/DOID_0111148 isolated ectopia lentis http://purl.obolibrary.org/obo/DOID_110 lens disease A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. http://purl.obolibrary.org/obo/DOID_14796 Dubowitz syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. http://purl.obolibrary.org/obo/DOID_8854 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_0111149 autosomal recessive isolated ectopia lentis 2 http://purl.obolibrary.org/obo/DOID_0111148 isolated ectopia lentis An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. http://purl.obolibrary.org/obo/SYMP_0000008 blindness http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/DOID_14798 Blount's disease http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. http://purl.obolibrary.org/obo/DOID_8860 obsolete lymphosarcoma involving spleen http://purl.obolibrary.org/obo/DOID_1483 gingival disease http://purl.obolibrary.org/obo/DOID_3388 periodontal disease A periodontal disease that is located_in the gums. http://purl.obolibrary.org/obo/DOID_1485 cystic fibrosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. http://purl.obolibrary.org/obo/SYMP_0000258 double vision http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/DOID_0111150 autosomal dominant isolated ectopia lentis 1 http://purl.obolibrary.org/obo/DOID_0111148 isolated ectopia lentis An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_8868 obsolete Mycosis fungoides involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/DOID_1495 cystic echinococcosis http://purl.obolibrary.org/obo/DOID_936 brain disease An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. http://purl.obolibrary.org/obo/DOID_8870 obsolete nodular lymphoma involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_8871 obsolete Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites http://purl.obolibrary.org/obo/DOID_0111151 Prinzmetal angina http://purl.obolibrary.org/obo/DOID_11840 coronary artery vasospasm A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. http://purl.obolibrary.org/obo/SYMP_0000321 loss of vision http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/DOID_1496 echinococcosis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. http://purl.obolibrary.org/obo/DOID_8875 obsolete Hodgkin's sarcoma involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/SYMP_0000628 vision distortion http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/DOID_0111152 multicentric Castleman disease http://purl.obolibrary.org/obo/DOID_0111157 Castleman disease A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. http://purl.obolibrary.org/obo/DOID_1498 cholera http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. http://purl.obolibrary.org/obo/DOID_889 obsolete inborn metabolic brain disease http://purl.obolibrary.org/obo/SYMP_0000416 amaurosis http://purl.obolibrary.org/obo/SYMP_0000321 loss of vision http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. http://purl.obolibrary.org/obo/SYMP_0000325 mild bronchitis http://purl.obolibrary.org/obo/SYMP_0000324 bronchitis http://purl.obolibrary.org/obo/DOID_15 reproductive system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in reproductive system organs. http://purl.obolibrary.org/obo/DOID_8903 obsolete Hodgkin's granuloma involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/DOID_0111154 postural orthostatic tachycardia syndrome http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. http://purl.obolibrary.org/obo/SYMP_0000109 mouth papules http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/DOID_150 disease of mental health http://purl.obolibrary.org/obo/DOID_4 disease A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. http://purl.obolibrary.org/obo/DOID_8904 obsolete nodular lymphoma involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/DOID_1508 candidiasis http://purl.obolibrary.org/obo/DOID_2473 opportunistic mycosis An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. http://purl.obolibrary.org/obo/DOID_0111155 autosomal recessive spinocerebellar ataxia 21 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. http://purl.obolibrary.org/obo/SYMP_0000260 dry mouth http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000330 mouth sore http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/DOID_8907 obsolete ulcerative proctitis http://purl.obolibrary.org/obo/DOID_1509 avoidant personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. http://purl.obolibrary.org/obo/DOID_0111156 spermatogenic failure 9 http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. http://purl.obolibrary.org/obo/SYMP_0000342 slurred speech http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/DOID_1510 personality disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. http://purl.obolibrary.org/obo/DOID_8914 obsolete Burkitt's tumor or lymphoma involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/DOID_0111157 Castleman disease http://purl.obolibrary.org/obo/DOID_0060704 lymphoproliferative syndrome A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/DOID_8916 obsolete mycosis fungoides involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/DOID_1512 chronic gonorrhea of cervix http://purl.obolibrary.org/obo/DOID_1513 chronic cervicitis A chronic cervicitis that is caused by gonorrhea. http://purl.obolibrary.org/obo/DOID_0111158 SADDAN http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. http://purl.obolibrary.org/obo/SYMP_0000650 thick white exudate on tongue http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/DOID_8918 obsolete Hodgkin's sarcoma involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/DOID_1513 chronic cervicitis http://purl.obolibrary.org/obo/DOID_2568 cervicitis A cervicitis that is present for weeks or more. http://purl.obolibrary.org/obo/DOID_0111159 partial trisomy distal 4q http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. http://purl.obolibrary.org/obo/SYMP_0000655 mouth bleeding http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/DOID_8919 obsolete Mycosis fungoides involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/DOID_1517 cecal benign neoplasm http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm An intestinal benign neoplasm that is located_in the cecum. http://purl.obolibrary.org/obo/DOID_0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. http://purl.obolibrary.org/obo/SYMP_0000727 palate weakness http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/DOID_8921 obsolete noninflammatory vaginal disorder http://purl.obolibrary.org/obo/DOID_1518 cecal disease http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease located_in the cecum. http://purl.obolibrary.org/obo/DOID_0111161 Crouzon syndrome-acanthosis nigricans syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. http://purl.obolibrary.org/obo/SYMP_0000752 herpetic lesion on upper lip http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000865 lesions in mouth http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/DOID_8928 obsolete lymphosarcoma involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/SYMP_0000877 decreased tongue tone http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/DOID_1519 cecum carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_1520 colon carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0111162 epidermal nevus http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. http://purl.obolibrary.org/obo/DOID_8938 obsolete reticulosarcoma involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/SYMP_0000507 head swelling http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/DOID_8939 obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/DOID_894 obsolete nervous system heredodegenerative disease http://purl.obolibrary.org/obo/DOID_895 obsolete copper metabolism disease http://purl.obolibrary.org/obo/DOID_8958 obsolete lymphosarcoma involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/DOID_1521 cecum cancer http://purl.obolibrary.org/obo/DOID_5672 large intestine cancer A large intestine cancer that is located_in the cecum. http://purl.obolibrary.org/obo/DOID_0111163 molybdenum cofactor deficiency type B http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/DOID_8959 obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/DOID_1526 panniculitis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A skin disease that is characterized by inflammation of subcutaneous adipose tissue. http://purl.obolibrary.org/obo/DOID_0111164 molybdenum cofactor deficiency type A http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/DOID_8964 obsolete Hodgkin's sarcoma involving spleen http://purl.obolibrary.org/obo/DOID_1532 pleural disease http://purl.obolibrary.org/obo/DOID_0050161 lower respiratory tract disease A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. http://purl.obolibrary.org/obo/DOID_8973 obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/SYMP_0000134 sinusitis http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/DOID_154 mixed cell type cancer http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. http://purl.obolibrary.org/obo/DOID_0111166 molybdenum cofactor deficiency type C http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_8974 obsolete Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/DOID_8976 obsolete peripheral lymph node tuberculosis http://purl.obolibrary.org/obo/SYMP_0000664 yellow exudate from nose http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/DOID_1540 parathyroid carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma An endocrine gland cancer located_in the parathyroid glands located in the neck. http://purl.obolibrary.org/obo/DOID_0111167 Dyggve-Melchior-Clausen disease http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_8977 obsolete malignant histiocytosis involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/SYMP_0000701 nasal discharge http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/DOID_1542 head and neck carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. http://purl.obolibrary.org/obo/DOID_0111168 sepiapterin reductase deficiency http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. http://purl.obolibrary.org/obo/DOID_8978 obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/SYMP_0000741 nasal bleeding http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/DOID_1554 vibratory urticaria http://purl.obolibrary.org/obo/DOID_0060220 physical urticaria A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0111169 subcortical band heterotopia http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. http://purl.obolibrary.org/obo/DOID_8979 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/DOID_8980 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen http://purl.obolibrary.org/obo/DOID_8990 obsolete Hodgkin's granuloma involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/DOID_8992 obsolete Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/SYMP_0000019 deafness http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/DOID_1555 urticaria http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. http://purl.obolibrary.org/obo/DOID_0111170 autosomal dominant sensory ataxia 1 http://purl.obolibrary.org/obo/DOID_0050951 hereditary ataxia A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. http://purl.obolibrary.org/obo/DOID_60007 cerebrovascular benign neoplasm http://purl.obolibrary.org/obo/DOID_0060091 cardiovascular organ benign neoplasm A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system. http://purl.obolibrary.org/obo/DOID_8994 obsolete Hodgkin's sarcoma involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/SYMP_0000393 tinnitus http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/DOID_1556 arthus reaction http://purl.obolibrary.org/obo/DOID_1557 hypersensitivity reaction type III disease A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls. http://purl.obolibrary.org/obo/SYMP_0000703 droopy ears http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/SYMP_0000397 unreactive mydriasis http://purl.obolibrary.org/obo/SYMP_0000396 mydriasis http://purl.obolibrary.org/obo/DOID_60008 parathyroid gland benign neoplasm http://purl.obolibrary.org/obo/DOID_11201 parathyroid gland disease An endocrine organ benign neoplasm that is located_in some parathyroid gland. http://purl.obolibrary.org/obo/DOID_8995 obsolete malignant histiocytosis involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/DOID_1557 hypersensitivity reaction type III disease http://purl.obolibrary.org/obo/DOID_0060056 hypersensitivity reaction disease A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury. http://purl.obolibrary.org/obo/SYMP_0000753 intense anxiety http://purl.obolibrary.org/obo/SYMP_0000412 anxiety http://purl.obolibrary.org/obo/DOID_1558 angioedema http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. http://purl.obolibrary.org/obo/DOID_60009 pituitary gland benign neoplasm http://purl.obolibrary.org/obo/DOID_53 pituitary gland disease A benign neoplasm located in the pituitary gland. http://purl.obolibrary.org/obo/DOID_9001 obsolete Hodgkin's lymphoma, nodular sclerosis, involving spleen http://purl.obolibrary.org/obo/SYMP_0000415 amaurosis fugax http://purl.obolibrary.org/obo/SYMP_0000416 amaurosis http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. http://purl.obolibrary.org/obo/DOID_0080937 wild-type amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. http://purl.obolibrary.org/obo/DOID_9010 obsolete Burkitt's tumor or lymphoma involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/SYMP_0000254 dilated pupil http://purl.obolibrary.org/obo/SYMP_0000417 pupil symptom http://purl.obolibrary.org/obo/DOID_1562 chromoblastomycosis http://purl.obolibrary.org/obo/DOID_0050135 subcutaneous mycosis A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome http://purl.obolibrary.org/obo/DOID_2962 Cockayne syndrome A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. http://purl.obolibrary.org/obo/DOID_9017 obsolete Sezary's disease involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/SYMP_0000418 contracted pupil http://purl.obolibrary.org/obo/SYMP_0000417 pupil symptom http://purl.obolibrary.org/obo/DOID_1563 dermatomycosis http://purl.obolibrary.org/obo/DOID_37 skin disease A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. http://purl.obolibrary.org/obo/CHEBI_5631 heavy metal http://purl.obolibrary.org/obo/CHEBI_64909 poison Any metal that is characterized by its rather high atomic mass and density. Although typically occurring in low concentrations, they can be found all throughout the Earth's crust (Commonly, a density of at least 5 g cm(3) is used to define a heavy metal and to differentiate it from other, ''light'' metals). http://purl.obolibrary.org/obo/DOID_9019 obsolete Mycosis fungoides involving spleen http://purl.obolibrary.org/obo/SYMP_0000419 miosis http://purl.obolibrary.org/obo/SYMP_0000418 contracted pupil http://purl.obolibrary.org/obo/DOID_1564 fungal infectious disease http://purl.obolibrary.org/obo/DOID_0050117 disease by infectious agent A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. http://purl.obolibrary.org/obo/DOID_0081002 Cowden syndrome 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. http://purl.obolibrary.org/obo/DOID_902 obsolete malignant non-epithelial hepatic and intrahepatic bile duct neoplasm http://purl.obolibrary.org/obo/SYMP_0000611 periumbilic abdominal pain http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain http://purl.obolibrary.org/obo/DOID_1572 normal pressure hydrocephalus http://purl.obolibrary.org/obo/DOID_1573 communicating hydrocephalus A communicating hydrocephalus characterized by normal cerebrospinal fluid pressure, gait instability, cognitive decline, and impaired bladder control. Onset is usually in late adulthood. http://purl.obolibrary.org/obo/SYMP_0019188 intracranial hemorrhage http://purl.obolibrary.org/obo/SYMP_0000041 hemorrhage A hemorrhage that is characterized by any bleeding occurring within the skull. http://purl.obolibrary.org/obo/DOID_9020 obsolete reticulosarcoma involving spleen http://purl.obolibrary.org/obo/SYMP_0000648 tenesmus http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_1573 communicating hydrocephalus http://purl.obolibrary.org/obo/DOID_10908 hydrocephalus A hydrocephalus characterized by cerebrospinal fluid flow without obstruction in the ventricular system. http://purl.obolibrary.org/obo/SYMP_0019189 intracerebral hemorrhage http://purl.obolibrary.org/obo/SYMP_0000041 hemorrhage A hemorrhage that is characterized by bleeding within the brain tissue itself. http://purl.obolibrary.org/obo/DOID_9025 obsolete Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/SYMP_0000311 intestinal hypermotility http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_1574 alcohol use disorder http://purl.obolibrary.org/obo/DOID_302 substance abuse A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. http://purl.obolibrary.org/obo/SYMP_0019190 subdural hemorrhage http://purl.obolibrary.org/obo/SYMP_0000041 hemorrhage A hemorrhage that is characterized by bleeding that occurs within the skull of head but outside the actual brain tissue. http://purl.obolibrary.org/obo/DOID_9033 obsolete Hodgkin's sarcoma involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/SYMP_0000725 necrosis of jejunum http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_1575 rheumatic disease http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. http://purl.obolibrary.org/obo/SYMP_0020008 barking croup cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a tight, low-pitched, and barky (like a barking seal) cough. http://purl.obolibrary.org/obo/DOID_9037 obsolete Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/SYMP_0000702 distended loops of intestines on rectal http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_1579 respiratory system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. http://purl.obolibrary.org/obo/DOID_0081365 Paget disease of bone 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_9039 obsolete Hodgkin's paragranuloma involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/SYMP_0000255 diminished gastro-intestinal motility http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_1583 laryngeal tuberculosis http://purl.obolibrary.org/obo/DOID_3437 laryngitis A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. http://purl.obolibrary.org/obo/DOID_0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_9040 obsolete reticulosarcoma involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/SYMP_0000639 rectorrhagia http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_1584 acute chest syndrome http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. http://purl.obolibrary.org/obo/DOID_1586 rheumatic fever http://purl.obolibrary.org/obo/DOID_104 bacterial infectious disease A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever. http://purl.obolibrary.org/obo/DOID_0070365 nevoid basal cell carcinoma syndrome 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_9041 obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/SYMP_0000509 flatulence http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease that is characterized by low a platelet count in the blood. http://purl.obolibrary.org/obo/DOID_0081356 spinal muscular atrophy, Jokela type http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_9046 obsolete nodular lymphoma involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/SYMP_0000001 abdominal cramp http://purl.obolibrary.org/obo/SYMP_0000461 abdominal symptom http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom http://purl.obolibrary.org/obo/SYMP_0000473 nutrition, metabolism, and development symptom http://purl.obolibrary.org/obo/DOID_1595 melancholic depression http://purl.obolibrary.org/obo/DOID_1470 major depressive disorder A major depressive disorder characterized by near-complete absence of pleasure. http://purl.obolibrary.org/obo/DOID_0081357 isolated mitochondrial myopathy http://purl.obolibrary.org/obo/DOID_699 mitochondrial myopathy A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_9052 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/SYMP_0000553 neurologic neglect syndrome http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/DOID_1596 depressive disorder http://purl.obolibrary.org/obo/DOID_3324 mood disorder A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function. http://purl.obolibrary.org/obo/DOID_0081361 spastic quadriplegic cerebral palsy 3 http://purl.obolibrary.org/obo/DOID_10970 spastic quadriplegic cerebral palsy A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_9054 obsolete lymphosarcoma involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/SYMP_0000124 seizure http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/DOID_16 integumentary system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. http://purl.obolibrary.org/obo/DOID_0081369 Paget disease of bone 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_9061 obsolete alcohol induced sleep disorder http://purl.obolibrary.org/obo/SYMP_0000743 blotchy red rash http://purl.obolibrary.org/obo/SYMP_0000487 rash http://purl.obolibrary.org/obo/SYMP_0000693 decreased facial sensation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0000556 localized superficial lump http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_1602 lymphadenitis http://purl.obolibrary.org/obo/DOID_9942 lymph node disease A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes. http://purl.obolibrary.org/obo/DOID_1607 hypoglycemic coma http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma. http://purl.obolibrary.org/obo/DOID_0070526 PLACK syndrome http://purl.obolibrary.org/obo/DOID_37 skin disease An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. http://purl.obolibrary.org/obo/DOID_9064 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites http://purl.obolibrary.org/obo/SYMP_0020020 abnormal scar formation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_161 keratosis http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized_by growth of keratin on the skin or mucous membranes. http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. http://purl.obolibrary.org/obo/DOID_9067 obsolete Hodgkin's paragranuloma involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_9070 obsolete pseudopolyposis of colon http://purl.obolibrary.org/obo/SYMP_0000017 crinkle http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_1612 breast cancer http://purl.obolibrary.org/obo/DOID_3463 breast disease An organ system cancer that originates in the mammary gland. http://purl.obolibrary.org/obo/DOID_0070531 foveal hypoplasia 2 http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen. http://purl.obolibrary.org/obo/DOID_0070520 peeling skin syndrome 1 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_9071 obsolete malignant histiocytosis involving spleen http://purl.obolibrary.org/obo/SYMP_0000536 disturbance of skin sensation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_1614 male breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer that occurs in males. http://purl.obolibrary.org/obo/DOID_0070518 familial multiple lipomatosis http://purl.obolibrary.org/obo/DOID_3153 lipomatosis A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_9078 obsolete Hodgkin's paragranuloma involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/DOID_0081414 TFEB-rearranged renal cell carcinoma http://purl.obolibrary.org/obo/DOID_0081413 renal cell carcinoma with MiT translocations A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. http://purl.obolibrary.org/obo/SYMP_0000818 localized superficial mass http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_1616 benign eccrine breast spiradenoma http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit). http://purl.obolibrary.org/obo/DOID_9079 obsolete Hodgkin's paragranuloma involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations http://purl.obolibrary.org/obo/DOID_3098 small cell sarcoma A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. http://purl.obolibrary.org/obo/DOID_0081417 poorly differentiated chordoma http://purl.obolibrary.org/obo/DOID_3302 chordoma A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. http://purl.obolibrary.org/obo/DOID_0060941 interstitial lung disease 1 http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0060945 amelogenesis imperfecta type 1K http://purl.obolibrary.org/obo/DOID_2187 amelogenesis imperfecta An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. http://purl.obolibrary.org/obo/SYMP_0000184 change in skin color http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_1618 breast fibroadenoma http://purl.obolibrary.org/obo/DOID_657 adenoma A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. http://purl.obolibrary.org/obo/DOID_9082 obsolete mycosis fungoides involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_0081448 cone-rod dystrophy 22 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. http://purl.obolibrary.org/obo/SYMP_0000130 severe headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/DOID_162 cancer http://purl.obolibrary.org/obo/DOID_14566 disease of cellular proliferation A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. http://purl.obolibrary.org/obo/DOID_9084 obsolete Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/DOID_9092 obsolete Hodgkin's sarcoma involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_0060991 congenital disorder of deglycosylation http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. http://purl.obolibrary.org/obo/DOID_0060984 digenic dyskeratosis congenita http://purl.obolibrary.org/obo/DOID_2729 dyskeratosis congenita A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_0070607 autosomal dominant nonsyndromic deafness 90 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12. http://purl.obolibrary.org/obo/SYMP_0000630 frontal headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/DOID_1623 breast leiomyoma http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that has_material_basis_in smooth muscle cells. http://purl.obolibrary.org/obo/DOID_9093 obsolete Hodgkin's paragranuloma involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/DOID_9103 obsolete carcinoma in situ of male genital organs http://purl.obolibrary.org/obo/SYMP_0000684 bifrontal headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/DOID_0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in the PLCG2 gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_1625 breast adenoma http://purl.obolibrary.org/obo/DOID_657 adenoma A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures. http://purl.obolibrary.org/obo/DOID_9105 obsolete mycosis fungoides involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/SYMP_0000082 lesions in lung http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom http://purl.obolibrary.org/obo/SYMP_0000292 heart failure http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/DOID_0061003 pancreatic agenesis 1 http://purl.obolibrary.org/obo/DOID_0050877 pancreatic agenesis A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_1626 breast duct papilloma http://purl.obolibrary.org/obo/DOID_2615 papilloma An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue. http://purl.obolibrary.org/obo/DOID_9109 obsolete mycosis fungoides involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/DOID_9117 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving spleen http://purl.obolibrary.org/obo/SYMP_0000357 postphlebitic ulcer http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/SYMP_0000298 hoarse voice http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/TRANS_0000027 arachnid borne transmission http://purl.obolibrary.org/obo/TRANS_0000019 arthropod borne transmission Arachnid borne transmission is an arthropod vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary arthropod vector such as a tick to another host. http://purl.obolibrary.org/obo/DOID_1628 intraductal papillary breast neoplasm http://purl.obolibrary.org/obo/DOID_3013 intraductal breast benign neoplasm An intraductal breast benign neoplasm that is characterized by fingerlike growth projections. http://purl.obolibrary.org/obo/DOID_1629 breast myofibroblastoma http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation. http://purl.obolibrary.org/obo/DOID_9121 obsolete Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites http://purl.obolibrary.org/obo/SYMP_0000829 neck pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by an unpleasant sensation localized in the neck that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual. http://purl.obolibrary.org/obo/SYMP_0000574 aphonia http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/DOID_1631 benign breast phyllodes tumor http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast. http://purl.obolibrary.org/obo/DOID_9124 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/FOODON_00001579 alcoholic beverage http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar. http://purl.obolibrary.org/obo/SYMP_0000704 dysphonia http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/DOID_1637 breast angiomatosis http://purl.obolibrary.org/obo/DOID_3463 breast disease A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia. http://purl.obolibrary.org/obo/DOID_9130 obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/SYMP_0000895 anaphylactic shock http://purl.obolibrary.org/obo/SYMP_0019138 immune system symptom An acute allergic reaction to an antigen to which the body has become hypersensitive. http://purl.obolibrary.org/obo/SYMP_0020063 blood pressure http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/DOID_1638 central nervous system tuberculosis http://purl.obolibrary.org/obo/DOID_331 central nervous system disease An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. http://purl.obolibrary.org/obo/DOID_9142 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites http://purl.obolibrary.org/obo/SYMP_0000896 exophthalmos http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom An abnormal protrusion or displacement of an eye or other body part. http://purl.obolibrary.org/obo/SYMP_0000015 giddiness http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/DOID_1639 skeletal tuberculosis http://purl.obolibrary.org/obo/DOID_0080001 bone disease An extrapulmonary tuberculosis that results in formation of lesions located in bone. http://purl.obolibrary.org/obo/DOID_9143 obsolete Burkitt's tumor or lymphoma involving spleen http://purl.obolibrary.org/obo/SYMP_0000897 ventricular bradycardia http://purl.obolibrary.org/obo/SYMP_0000231 bradycardia A bradycardia associated with the generation of impules in the ventricles when impules from the atria fail to reach them, characterized by an electrocardiogram showing a heart rate below 50 BPM and a broad QRS complex. http://purl.obolibrary.org/obo/SYMP_0000566 sleep disturbance http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000411 infant symptom http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/DOID_1641 benign breast adenomyoepithelioma http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells. http://purl.obolibrary.org/obo/DOID_9150 obsolete Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/SYMP_0000898 cardiac fibrillation http://purl.obolibrary.org/obo/SYMP_0000287 arrhythmia An arrhythmia characterized by rapid, irregular, and unsynchronized contraction of muscle fibers within the heart. http://purl.obolibrary.org/obo/SYMP_0000672 abscess http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/DOID_1642 breast adenomyoepithelioma http://purl.obolibrary.org/obo/DOID_3004 breast myoepithelial neoplasm A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. http://purl.obolibrary.org/obo/DOID_1647 female breast upper-inner quadrant cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the upper-inner quadrant of the breast. http://purl.obolibrary.org/obo/DOID_9157 obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_9158 obsolete Sezary's disease involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/SYMP_0000899 ventricular fibrillation http://purl.obolibrary.org/obo/SYMP_0000898 cardiac fibrillation A cardiac fibrillation associated with quivering of the lower chambers of the heart, preventing blood from being pumped and causing cardiac arrest. http://purl.obolibrary.org/obo/SYMP_0000177 weakness http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/DOID_1649 female breast lower-inner quadrant cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the lower-inner quadrant of the breast. http://purl.obolibrary.org/obo/DOID_9161 obsolete Sezary's disease involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/DOID_0080501 GM1 gangliosidosis type 2 http://purl.obolibrary.org/obo/DOID_3322 GM1 gangliosidosis A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. http://purl.obolibrary.org/obo/SYMP_0000651 discharge http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/DOID_1650 female breast axillary tail cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the breast tissue extending into the axilla. http://purl.obolibrary.org/obo/DOID_9184 obsolete sleep arousal disorder http://purl.obolibrary.org/obo/DOID_0080502 GM1 gangliosidosis type 1 http://purl.obolibrary.org/obo/DOID_3322 GM1 gangliosidosis A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. http://purl.obolibrary.org/obo/SYMP_0000689 cramp http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/DOID_1657 ventricular septal defect http://purl.obolibrary.org/obo/DOID_1681 heart septal defect A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. http://purl.obolibrary.org/obo/DOID_1659 supratentorial cancer http://purl.obolibrary.org/obo/DOID_1319 brain cancer A brain cancer that is located in the supratentorial region. http://purl.obolibrary.org/obo/DOID_9186 obsolete Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/DOID_0080503 multiple congenital anomalies-hypotonia-seizures syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. http://purl.obolibrary.org/obo/SYMP_0020011 bloody diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/DOID_1664 pineoblastoma http://purl.obolibrary.org/obo/DOID_5032 pineal gland cancer A pineal gland neoplasm located_in the brain. http://purl.obolibrary.org/obo/DOID_1672 spontaneous tension pneumothorax http://purl.obolibrary.org/obo/DOID_1673 pneumothorax A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath. http://purl.obolibrary.org/obo/DOID_1673 pneumothorax http://purl.obolibrary.org/obo/DOID_1532 pleural disease A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall. http://purl.obolibrary.org/obo/DOID_9189 obsolete generalized hyperhidrosis http://purl.obolibrary.org/obo/DOID_0080531 dedifferentiated liposarcoma http://purl.obolibrary.org/obo/DOID_3382 liposarcoma A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. http://purl.obolibrary.org/obo/SYMP_0000228 hemorrhagic diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/SYMP_0000376 severe diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/DOID_1678 chronic interstitial cystitis http://purl.obolibrary.org/obo/DOID_1680 chronic cystitis A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency. http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/DOID_365 bladder disease A bladder disease that is characterized by inflammation of the bladder. http://purl.obolibrary.org/obo/DOID_9198 obsolete Sezary's disease involving intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_0080532 Smarca4-deficient sarcoma of thorax http://purl.obolibrary.org/obo/DOID_5093 thoracic cancer A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). http://purl.obolibrary.org/obo/SYMP_0000754 severe chest pain http://purl.obolibrary.org/obo/SYMP_0000576 chest pain http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease http://purl.obolibrary.org/obo/DOID_114 heart disease A physical disorder that is characterized by problems with the heart's structure that are present at birth. http://purl.obolibrary.org/obo/DOID_9199 obsolete cataplexy and narcolepsy http://purl.obolibrary.org/obo/DOID_0080533 Carney-Stratakis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/SYMP_0000597 head and neck symptom http://purl.obolibrary.org/obo/DOID_1686 glaucoma http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. http://purl.obolibrary.org/obo/DOID_1687 neovascular glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases. http://purl.obolibrary.org/obo/DOID_920 obsolete childhood liver neoplasm http://purl.obolibrary.org/obo/DOID_9202 obsolete disorder of optic chiasm associated with pituitary neoplasm and disorder http://purl.obolibrary.org/obo/DOID_9203 obsolete Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes http://purl.obolibrary.org/obo/DOID_0080534 myxofibrosarcoma http://purl.obolibrary.org/obo/DOID_1115 sarcoma A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. http://purl.obolibrary.org/obo/SYMP_0000671 sudden onset of fever http://purl.obolibrary.org/obo/SYMP_0000613 fever http://purl.obolibrary.org/obo/DOID_169 neuroendocrine tumor http://purl.obolibrary.org/obo/DOID_170 endocrine gland cancer An endocrine gland cancer that has_material_basis_in neuroendocrine cells. http://purl.obolibrary.org/obo/DOID_9216 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/DOID_9222 obsolete lymphosarcoma involving lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/DOID_0080535 hypermanganesemia with dystonia http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. http://purl.obolibrary.org/obo/SYMP_0000627 disturbed vision http://purl.obolibrary.org/obo/SYMP_0000628 vision distortion http://purl.obolibrary.org/obo/DOID_1697 ichthyosis http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. http://purl.obolibrary.org/obo/DOID_9224 obsolete vulva herpetic infectious disease http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/DOID_0080536 hypermanganesemia with dystonia 1 http://purl.obolibrary.org/obo/DOID_0080535 hypermanganesemia with dystonia A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. http://purl.obolibrary.org/obo/DOID_17 musculoskeletal system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that occurs in the muscular and/or skeletal system. http://purl.obolibrary.org/obo/DOID_9225 obsolete Hodgkin's sarcoma involving intrapelvic lymph nodes http://purl.obolibrary.org/obo/SYMP_0000618 abnormal posture http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/DOID_0080537 hypermanganesemia with dystonia 2 http://purl.obolibrary.org/obo/DOID_0080535 hypermanganesemia with dystonia A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21. http://purl.obolibrary.org/obo/SYMP_0000694 decreased jaw tone http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/DOID_170 endocrine gland cancer http://purl.obolibrary.org/obo/DOID_0050686 organ system cancer An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. http://purl.obolibrary.org/obo/DOID_9227 obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck http://purl.obolibrary.org/obo/DOID_0080538 Sweeney-Cox syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. http://purl.obolibrary.org/obo/SYMP_0000713 inability to lie flat http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/DOID_1700 X-linked ichthyosis http://purl.obolibrary.org/obo/DOID_1697 ichthyosis An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_9241 obsolete reticulosarcoma involving lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/SYMP_0000617 torticollis http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/DOID_0080539 PEHO syndrome http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder that involves defects in steroid metabolism. http://purl.obolibrary.org/obo/DOID_9264 obsolete sulfuraminoacidemia http://purl.obolibrary.org/obo/SYMP_0000183 muscle symptom http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/DOID_0080540 galactosialidosis http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_1702 ichthyosis vulgaris http://purl.obolibrary.org/obo/DOID_1697 ichthyosis An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. http://purl.obolibrary.org/obo/DOID_927 obsolete metastatic malignant neoplasm to brain http://purl.obolibrary.org/obo/DOID_928 obsolete CNS metastases http://purl.obolibrary.org/obo/SYMP_0000744 cervical lymphadenopathy http://purl.obolibrary.org/obo/SYMP_0019142 lymphadenopathy http://purl.obolibrary.org/obo/DOID_0080541 hyperprolinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amno acid metabolic disorder that is characterized by the excess of proline in the blood. http://purl.obolibrary.org/obo/DOID_1712 aortic valve stenosis http://purl.obolibrary.org/obo/DOID_62 aortic valve disease An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening. http://purl.obolibrary.org/obo/DOID_9287 obsolete penile vascular disorder http://purl.obolibrary.org/obo/SYMP_0020007 anterior scleral inflammation http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0080542 hyperprolinemia type 1 http://purl.obolibrary.org/obo/DOID_0080541 hyperprolinemia A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_1725 peritoneum cancer http://purl.obolibrary.org/obo/DOID_0050686 organ system cancer An organ system cancer that is located in the peritoneum. http://purl.obolibrary.org/obo/DOID_9314 obsolete glaucoma associated with anomalies of iris http://purl.obolibrary.org/obo/SYMP_0000211 asthenopia http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0080543 hyperprolinemia type 2 http://purl.obolibrary.org/obo/DOID_0080541 hyperprolinemia A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_1731 histoplasmosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. http://purl.obolibrary.org/obo/DOID_9321 obsolete intervertebral disc disorder http://purl.obolibrary.org/obo/SYMP_0000212 eye strain http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111265 Boucher-Neuhauser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. http://purl.obolibrary.org/obo/DOID_1733 cryptosporidiosis http://purl.obolibrary.org/obo/DOID_5295 intestinal disease A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. http://purl.obolibrary.org/obo/DOID_9340 obsolete cheilopalatoschisis http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111266 geroderma osteodysplasticum http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. http://purl.obolibrary.org/obo/DOID_1738 small intestine leiomyoma http://purl.obolibrary.org/obo/DOID_7505 small intestine benign neoplasm A small intestine benign neoplasm that is located_in the small intestine. http://purl.obolibrary.org/obo/DOID_9353 obsolete congenital hip dislocation http://purl.obolibrary.org/obo/DOID_9357 obsolete hyperemesis gravidarum http://purl.obolibrary.org/obo/SYMP_0000253 anisocoria http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111267 hyaline body myopathy http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. http://purl.obolibrary.org/obo/DOID_1748 conjunctival squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_5467 conjunctival cancer A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. http://purl.obolibrary.org/obo/DOID_9359 obsolete enthesopathy of knee http://purl.obolibrary.org/obo/SYMP_0000281 eye discharge http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111268 autosomal recessive hyaline body myopathy http://purl.obolibrary.org/obo/DOID_0111267 hyaline body myopathy A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A carcinoma that derives_from squamous epithelial cells. http://purl.obolibrary.org/obo/DOID_9377 obsolete pigment dispersion syndrome of iris http://purl.obolibrary.org/obo/SYMP_0000284 fixed pupil http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111269 autosomal dominant hyaline body myopathy http://purl.obolibrary.org/obo/DOID_0111267 hyaline body myopathy A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. http://purl.obolibrary.org/obo/DOID_175 vascular cancer http://purl.obolibrary.org/obo/DOID_178 vascular disease A cardiovascular cancer that is located_in blood vessels. http://purl.obolibrary.org/obo/DOID_9379 obsolete glaucoma with ocular inflammation http://purl.obolibrary.org/obo/SYMP_0000301 hypopyon http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111270 isolated sulfite oxidase deficiency http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve. http://purl.obolibrary.org/obo/DOID_9385 obsolete gonococcal eye infectious disease http://purl.obolibrary.org/obo/SYMP_0000310 inflamed eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111271 Oliver-McFarlane syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. http://purl.obolibrary.org/obo/DOID_176 cardiovascular cancer http://purl.obolibrary.org/obo/DOID_1287 cardiovascular system disease An organ system cancer that located_in the heart and blood vessels. http://purl.obolibrary.org/obo/DOID_9403 obsolete isolated explosive disorder http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111272 occipital horn syndrome http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. http://purl.obolibrary.org/obo/DOID_1762 cheilitis http://purl.obolibrary.org/obo/DOID_9297 lip disease A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. http://purl.obolibrary.org/obo/DOID_9405 obsolete pituitary dwarfism http://purl.obolibrary.org/obo/SYMP_0000338 nystagmus http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111273 NARP syndrome http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. http://purl.obolibrary.org/obo/DOID_1766 factitious disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. http://purl.obolibrary.org/obo/DOID_9411 obsolete gonococcal endocarditis http://purl.obolibrary.org/obo/SYMP_0000417 pupil symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111274 CODAS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. http://purl.obolibrary.org/obo/DOID_178 vascular disease http://purl.obolibrary.org/obo/DOID_1287 cardiovascular system disease A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. http://purl.obolibrary.org/obo/DOID_9413 obsolete Congenital abnormalities of uterus complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/SYMP_0000446 bloodshot eye http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111275 speech-language disorder-1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. http://purl.obolibrary.org/obo/DOID_1781 thyroid cancer http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage. http://purl.obolibrary.org/obo/DOID_9414 obsolete abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/SYMP_0000665 yellow exudate from eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. http://purl.obolibrary.org/obo/DOID_1787 pericarditis http://purl.obolibrary.org/obo/DOID_0050829 pericardium disease A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. http://purl.obolibrary.org/obo/DOID_9422 obsolete abscess of eyelid http://purl.obolibrary.org/obo/SYMP_0000690 cranial nerve palsies http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111277 mitochondrial trifunctional protein deficiency http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy. http://purl.obolibrary.org/obo/DOID_18 urinary system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. http://purl.obolibrary.org/obo/DOID_9443 obsolete cervix blue nevus http://purl.obolibrary.org/obo/SYMP_0000714 intraretinal hemorrhage http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0111278 histiocytosis-lymphadenopathy plus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. http://purl.obolibrary.org/obo/DOID_0080642 Middle East respiratory syndrome http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli). http://purl.obolibrary.org/obo/DOID_182 calcinosis http://purl.obolibrary.org/obo/DOID_10575 calcium metabolism disease A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. http://purl.obolibrary.org/obo/DOID_9450 obsolete infectious disease of the breast and nipple associated with childbirth http://purl.obolibrary.org/obo/SYMP_0000722 moderate conjuctival injection http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. http://purl.obolibrary.org/obo/DOID_1826 epilepsy http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. http://purl.obolibrary.org/obo/DOID_9468 obsolete Salmonella meningitis http://purl.obolibrary.org/obo/SYMP_0000767 subconjunctival bleeding http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. http://purl.obolibrary.org/obo/DOID_1827 generalized epilepsy http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. http://purl.obolibrary.org/obo/DOID_951 obsolete toxic myopathy http://purl.obolibrary.org/obo/SYMP_0019164 excessive tearing http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. http://purl.obolibrary.org/obo/DOID_184 bone cancer http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. http://purl.obolibrary.org/obo/DOID_9514 obsolete multiple myeloma and immunoproliferative neoplasm http://purl.obolibrary.org/obo/SYMP_0019165 light sensitivity http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. http://purl.obolibrary.org/obo/DOID_1882 atrial heart septal defect http://purl.obolibrary.org/obo/DOID_1681 heart septal defect A heart septal defect located_in in the septum that separates the two atria of the heart. http://purl.obolibrary.org/obo/DOID_9518 obsolete abortion complicated by renal failure http://purl.obolibrary.org/obo/SYMP_0019172 ocular lesion http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. http://purl.obolibrary.org/obo/DOID_1884 viral hepatitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A hepatitis that involves viral infection causing inflammation of the liver. http://purl.obolibrary.org/obo/SYMP_0000210 photophobia http://purl.obolibrary.org/obo/SYMP_0019165 light sensitivity http://purl.obolibrary.org/obo/DOID_9528 obsolete acute renal failure with lesion of renal medullary necrosis http://purl.obolibrary.org/obo/DOID_9530 obsolete Rhesus isoimmunisation affecting management of mother http://purl.obolibrary.org/obo/DOID_0080648 B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease A cranial nerve disease that is located_in the optic nerve. http://purl.obolibrary.org/obo/NCBITaxon_694002 Betacoronavirus http://purl.obolibrary.org/obo/NCBITaxon_2501931 Orthocoronavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/DOID_9543 obsolete plasma cell myeloma PTLD http://purl.obolibrary.org/obo/NCBITaxon_2560194 Orthoavulavirus http://purl.obolibrary.org/obo/NCBITaxon_2560069 Avulavirinae http://purl.obolibrary.org/obo/NCBITaxon_2560195 Orthorubulavirus http://purl.obolibrary.org/obo/NCBITaxon_2560080 Rubulavirinae http://purl.obolibrary.org/obo/DOID_0080649 B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. http://purl.obolibrary.org/obo/DOID_1909 melanoma http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. http://purl.obolibrary.org/obo/DOID_9545 obsolete recurrent plasma cell neoplasm http://purl.obolibrary.org/obo/NCBITaxon_3051375 Orthoavulavirus javaense http://purl.obolibrary.org/obo/NCBITaxon_2560194 Orthoavulavirus http://purl.obolibrary.org/obo/DOID_0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion. http://purl.obolibrary.org/obo/DOID_0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. http://purl.obolibrary.org/obo/DOID_192 sex cord-gonadal stromal tumor http://purl.obolibrary.org/obo/DOID_193 reproductive organ cancer A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. http://purl.obolibrary.org/obo/DOID_955 obsolete benign neurilemmoma http://purl.obolibrary.org/obo/NCBITaxon_234 Brucella http://purl.obolibrary.org/obo/NCBITaxon_2826938 Brucella/Ochrobactrum group http://purl.obolibrary.org/obo/DOID_0080810 acute asthma http://purl.obolibrary.org/obo/DOID_2841 asthma An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment. http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development http://purl.obolibrary.org/obo/DOID_2277 gonadal disease A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex. http://purl.obolibrary.org/obo/DOID_9552 obsolete adrenal gland hypofunction http://purl.obolibrary.org/obo/FOODON_00001046 animal seafood product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/DOID_0080811 extrinsic asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. http://purl.obolibrary.org/obo/DOID_1924 hypogonadism http://purl.obolibrary.org/obo/DOID_2277 gonadal disease A gonadal disease that is characterized by diminished functional activity of the gonads. http://purl.obolibrary.org/obo/DOID_9579 obsolete Pseudomonas septicemia http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/DOID_0080781 benign exocrine pancreas neoplasm http://purl.obolibrary.org/obo/DOID_0060089 endocrine organ benign neoplasm An endocrine organ benign neoplasm arising from the exocrine pancreas. http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. http://purl.obolibrary.org/obo/DOID_9594 obsolete ovarian metastasis http://purl.obolibrary.org/obo/SYMP_0020058 severe bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0020057 bronchiole inflammation http://purl.obolibrary.org/obo/DOID_0080782 mucinous pancreas adenocarcinoma http://purl.obolibrary.org/obo/DOID_4074 pancreatic adenocarcinoma A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. http://purl.obolibrary.org/obo/DOID_193 reproductive organ cancer http://purl.obolibrary.org/obo/DOID_15 reproductive system disease An organ system cancer that is manifested in the reproductive organs. http://purl.obolibrary.org/obo/DOID_9630 obsolete genetic anomaly of leucocyte http://purl.obolibrary.org/obo/SYMP_0020059 suppurative bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0020057 bronchiole inflammation http://purl.obolibrary.org/obo/DOID_0080784 urinary tract infection http://purl.obolibrary.org/obo/DOID_18 urinary system disease An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra. http://purl.obolibrary.org/obo/DOID_1934 dysostosis http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that results in defective ossification of bone. http://purl.obolibrary.org/obo/DOID_9642 obsolete rheumatic chorea http://purl.obolibrary.org/obo/NCBITaxon_3046277 Orthoflavivirus flavi http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_0080785 Brown-Vialetto-Van Laere syndrome 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_1935 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa, vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. http://purl.obolibrary.org/obo/DOID_9647 obsolete obstructed labor http://purl.obolibrary.org/obo/NCBITaxon_3048158 Orthoflavivirus japonicum http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_0080786 Brown-Vialetto-Van Laere syndrome 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_1936 atherosclerosis http://purl.obolibrary.org/obo/DOID_2348 arteriosclerotic cardiovascular disease An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries. http://purl.obolibrary.org/obo/DOID_9653 obsolete Pre-eclampsia or eclampsia superimposed on pre-existing hypertension http://purl.obolibrary.org/obo/NCBITaxon_3048215 Orthoflavivirus murrayense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_0080787 proximal symphalangism 1 http://purl.obolibrary.org/obo/DOID_0050788 proximal symphalangism A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_1962 fallopian tube disease http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is located_in the fallopian tube. http://purl.obolibrary.org/obo/DOID_1969 cerebral palsy http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. http://purl.obolibrary.org/obo/DOID_1984 rectal benign neoplasm http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm An intestinal benign neoplasm located_in the rectum. http://purl.obolibrary.org/obo/DOID_9654 obsolete hypertension complicating pregnancy, childbirth and the puerperium http://purl.obolibrary.org/obo/NCBITaxon_3048287 Orthoflavivirus powassanense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_0080788 proximal symphalangism 2 http://purl.obolibrary.org/obo/DOID_0050788 proximal symphalangism A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_2000 otosalpingitis http://purl.obolibrary.org/obo/DOID_9739 eustachian tube disease A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A musculoskeletal system cancer that is located_in connective tissue. http://purl.obolibrary.org/obo/DOID_9678 obsolete cervical incompetence complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/NCBITaxon_3048448 Orthoflavivirus nilense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_0080789 Treacher Collins syndrome 1 http://purl.obolibrary.org/obo/DOID_2908 Treacher Collins syndrome A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_2030 anxiety disorder http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations. http://purl.obolibrary.org/obo/DOID_9718 obsolete meningococcal myocarditis http://purl.obolibrary.org/obo/DOID_972 obsolete malignant neoplasm of cerebrum except lobes and ventricles http://purl.obolibrary.org/obo/NCBITaxon_3048233 Orthoflavivirus omskense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_0080790 Treacher Collins syndrome 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_2033 communication disorder http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder that involves specific developmental disorders of speech and language. http://purl.obolibrary.org/obo/DOID_9728 obsolete vitreous membranes and strands http://purl.obolibrary.org/obo/NCBITaxon_3052465 Orthoflavivirus encephalitidis http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_0080791 Treacher Collins syndrome 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_2034 encephalomalacia http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system. http://purl.obolibrary.org/obo/DOID_9729 obsolete crystalline deposits in vitreous http://purl.obolibrary.org/obo/NCBITaxon_3052468 Orthoflavivirus louisense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_0080792 Treacher Collins syndrome 4 http://purl.obolibrary.org/obo/DOID_2908 Treacher Collins syndrome A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. http://purl.obolibrary.org/obo/DOID_204 enthesopathy http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation. http://purl.obolibrary.org/obo/DOID_9734 obsolete urinary tuberculosis http://purl.obolibrary.org/obo/DOID_9751 obsolete popliteal cyst http://purl.obolibrary.org/obo/NCBITaxon_3052464 Orthoflavivirus denguei http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_0080794 childhood acute megakaryoblastic leukemia http://purl.obolibrary.org/obo/DOID_8761 acute megakaryocytic leukemia An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. http://purl.obolibrary.org/obo/DOID_0080795 acute basophilic leukemia http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia that is characterized by primary differentiation to basophils. http://purl.obolibrary.org/obo/DOID_205 hyperostosis http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease that results in an abnormal growth of located in bone. http://purl.obolibrary.org/obo/NCBITaxon_3048170 Orthoflavivirus kyasanurense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_9753 obsolete rupture of synovium http://purl.obolibrary.org/obo/NCBITaxon_3048459 Orthoflavivirus zikaense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_0080796 core binding factor acute myeloid leukemia http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. http://purl.obolibrary.org/obo/DOID_2051 maxillary sinusitis http://purl.obolibrary.org/obo/DOID_0050127 sinusitis A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. http://purl.obolibrary.org/obo/DOID_9761 obsolete arthropathy associated with dermatological disorder http://purl.obolibrary.org/obo/NCBITaxon_3700964 Euflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_0080797 nasal type extranodal NK/T-cell lymphoma http://purl.obolibrary.org/obo/DOID_10811 nasal cavity cancer A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. http://purl.obolibrary.org/obo/DOID_2059 vulvar disease http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is located_in the vulva. http://purl.obolibrary.org/obo/DOID_9762 obsolete perinatal cyanotic attack http://purl.obolibrary.org/obo/NCBITaxon_3052505 Orthomarburgvirus marburgense http://purl.obolibrary.org/obo/NCBITaxon_3044783 Orthomarburgvirus http://purl.obolibrary.org/obo/DOID_0080798 myeloid leukemia associated with Down Syndrome http://purl.obolibrary.org/obo/DOID_8761 acute megakaryocytic leukemia An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. http://purl.obolibrary.org/obo/DOID_2113 coccidiosis http://purl.obolibrary.org/obo/DOID_2789 parasitic protozoa infectious disease A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. http://purl.obolibrary.org/obo/DOID_9764 obsolete biliary calculus with cholecystitis http://purl.obolibrary.org/obo/NCBITaxon_33743 Kyasanur Forest disease virus http://purl.obolibrary.org/obo/NCBITaxon_3048170 Orthoflavivirus kyasanurense http://purl.obolibrary.org/obo/DOID_0080799 sinonasal undifferentiated carcinoma http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. http://purl.obolibrary.org/obo/DOID_2123 tularemia http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues. http://purl.obolibrary.org/obo/DOID_9770 obsolete Retracted nipple associated with childbirth http://purl.obolibrary.org/obo/NCBITaxon_32604 Human betaherpesvirus 6B http://purl.obolibrary.org/obo/NCBITaxon_3050297 Roseolovirus humanbeta6b http://purl.obolibrary.org/obo/DOID_0080800 salivary gland mucinous adenocarcinoma http://purl.obolibrary.org/obo/DOID_0050904 salivary gland carcinoma A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. http://purl.obolibrary.org/obo/DOID_2133 central nervous system sarcoma http://purl.obolibrary.org/obo/DOID_3620 central nervous system cancer A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm. http://purl.obolibrary.org/obo/DOID_9772 obsolete hematological disease of fetus and newborn http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/DOID_0080801 autosomal dominant craniometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080033 craniometaphyseal dysplasia A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_2149 urogenital tuberculosis http://purl.obolibrary.org/obo/DOID_0050598 extrapulmonary tuberculosis An extrapulmonary tuberculosis that is located_in urogenital system. http://purl.obolibrary.org/obo/DOID_216 dental caries http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel. http://purl.obolibrary.org/obo/DOID_9787 obsolete Foreign body granuloma of muscle http://purl.obolibrary.org/obo/SO_0002387 5_prime_UTR_uORF_frameshift_variant http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/DOID_0080802 autosomal recessive craniometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080033 craniometaphyseal dysplasia A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_2170 vaginitis http://purl.obolibrary.org/obo/DOID_121 vaginal disease A vaginal disease that is characterized by inflammation of the vagina. http://purl.obolibrary.org/obo/DOID_9795 obsolete tuberculous meningitis http://purl.obolibrary.org/obo/SO_0002388 5_prime_UTR_uORF_stop_codon_gain_variant http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/DOID_0080803 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_2187 amelogenesis imperfecta http://purl.obolibrary.org/obo/DOID_0050177 monogenic disease A dental enamel hypoplasia characterized by abnormal enamel formation. http://purl.obolibrary.org/obo/DOID_98 obsolete staphylococcal infectious disease http://purl.obolibrary.org/obo/SO_0002389 5_prime_UTR_uORF_stop_codon_loss_variant http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/NCBITaxon_6681 Malacostraca http://purl.obolibrary.org/obo/NCBITaxon_3701029 Communostraca http://purl.obolibrary.org/obo/DOID_0080804 cranioectodermal dysplasia 2 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. http://purl.obolibrary.org/obo/DOID_219 colon cancer http://purl.obolibrary.org/obo/DOID_9256 colorectal cancer A colorectal cancer that is located_in the colon. http://purl.obolibrary.org/obo/DOID_9805 obsolete pneumococcal infectious disease http://purl.obolibrary.org/obo/NCBITaxon_235 Brucella abortus http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/DOID_0080805 cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. http://purl.obolibrary.org/obo/DOID_9815 obsolete Recent retinal detachment, total or subtotal http://purl.obolibrary.org/obo/DOID_9816 obsolete partial recent retinal detachment with giant tear http://purl.obolibrary.org/obo/NCBITaxon_29459 Brucella melitensis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/DOID_0080806 cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. http://purl.obolibrary.org/obo/DOID_222 perichondritis of auricle http://purl.obolibrary.org/obo/DOID_9463 otitis externa An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. http://purl.obolibrary.org/obo/DOID_9818 obsolete retinal defect http://purl.obolibrary.org/obo/NCBITaxon_29461 Brucella suis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/NCBITaxon_36855 Brucella canis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/DOID_0080807 autosomal dominant craniodiaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080032 craniodiaphyseal dysplasia A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0080808 mammary analogue secretory carcinoma http://purl.obolibrary.org/obo/DOID_0050904 salivary gland carcinoma A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. http://purl.obolibrary.org/obo/DOID_9819 obsolete delimited old retinal detachment http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/NCBITaxon_3691983 Clostridium botulinum group http://purl.obolibrary.org/obo/DOID_0080812 intermittent asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. http://purl.obolibrary.org/obo/DOID_2237 hepatitis http://purl.obolibrary.org/obo/DOID_409 liver disease A liver disease that is characterized as an inflammation of the liver. http://purl.obolibrary.org/obo/DOID_982 obsolete disorganized type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/NCBITaxon_7147 Diptera http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/DOID_0080813 persistent mild asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. http://purl.obolibrary.org/obo/DOID_224 transient cerebral ischemia http://purl.obolibrary.org/obo/DOID_2316 brain ischemia A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death. http://purl.obolibrary.org/obo/DOID_9823 obsolete Partial recent retinal detachment with retinal dialysis http://purl.obolibrary.org/obo/NCBITaxon_7509 Siphonaptera http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/DOID_0080814 persistent moderate asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. http://purl.obolibrary.org/obo/DOID_225 syndrome http://purl.obolibrary.org/obo/DOID_4 disease A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. http://purl.obolibrary.org/obo/DOID_9824 obsolete total or subtotal old retinal detachment http://purl.obolibrary.org/obo/NCBITaxon_3048184 Orthoflavivirus loupingi http://purl.obolibrary.org/obo/NCBITaxon_3703354 Orthoflavivirus mediterranense http://purl.obolibrary.org/obo/DOID_9829 obsolete drug abstinence syndrome or symptom http://purl.obolibrary.org/obo/DOID_0080815 childhood-onset asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by first presentation in early childhood. http://purl.obolibrary.org/obo/DOID_2253 cervix disease http://purl.obolibrary.org/obo/DOID_345 uterine disease An uterine disease that is located_in the cervix. http://purl.obolibrary.org/obo/NCBITaxon_33342 Paraneoptera http://purl.obolibrary.org/obo/NCBITaxon_3701061 Eumetabola http://purl.obolibrary.org/obo/DOID_9836 obsolete refraction or accommodation disorder http://purl.obolibrary.org/obo/DOID_0080816 adult-onset severe asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by first presentation in adulthood. http://purl.obolibrary.org/obo/DOID_0080817 T2-high asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia http://purl.obolibrary.org/obo/DOID_1222 cartilage disease A bone development disease that results_in defective development of cartilage or bone. http://purl.obolibrary.org/obo/NCBITaxon_33392 Endopterygota http://purl.obolibrary.org/obo/NCBITaxon_3701061 Eumetabola http://purl.obolibrary.org/obo/DOID_984 obsolete temporomandibular joint disorder http://purl.obolibrary.org/obo/DOID_0080818 T2-low asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. http://purl.obolibrary.org/obo/DOID_227 ankylosis http://purl.obolibrary.org/obo/DOID_381 arthropathy An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. http://purl.obolibrary.org/obo/NCBITaxon_6199 Cestoda http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/DOID_985 obsolete disorganized type schizophrenia subchronic state http://purl.obolibrary.org/obo/DOID_0080819 environmentally induced asthma http://purl.obolibrary.org/obo/DOID_9360 intrinsic asthma An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter. http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease http://purl.obolibrary.org/obo/DOID_15 reproductive system disease A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. http://purl.obolibrary.org/obo/DOID_9855 obsolete syphilitic interstitial keratitis http://purl.obolibrary.org/obo/NCBITaxon_6178 Trematoda http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/DOID_0080820 occupational asthma http://purl.obolibrary.org/obo/DOID_0080819 environmentally induced asthma An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace. http://purl.obolibrary.org/obo/DOID_0080821 exercise-induced bronchoconstriction http://purl.obolibrary.org/obo/DOID_9360 intrinsic asthma An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise. http://purl.obolibrary.org/obo/DOID_231 motor neuron disease http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease that is located_in the motor neurons. http://purl.obolibrary.org/obo/DOID_9866 obsolete lactation disorder http://purl.obolibrary.org/obo/NCBITaxon_3703354 Orthoflavivirus mediterranense http://purl.obolibrary.org/obo/NCBITaxon_3700964 Euflavivirus http://purl.obolibrary.org/obo/DOID_9878 obsolete Excessive vomiting starting after 22 completed weeks of gestation http://purl.obolibrary.org/obo/DOID_0080822 aspirin-induced respiratory disease http://purl.obolibrary.org/obo/DOID_9360 intrinsic asthma An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs. http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis http://purl.obolibrary.org/obo/DOID_11971 synostosis A synostosis that results_in premature fusion located_in skull. http://purl.obolibrary.org/obo/DOID_2345 plasma protein metabolism disease http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves plasma protein metabolism malfunction. http://purl.obolibrary.org/obo/NCBITaxon_3701029 Communostraca http://purl.obolibrary.org/obo/NCBITaxon_3701028 Altocrustacea http://purl.obolibrary.org/obo/DOID_9889 obsolete alternating esotropia with A pattern http://purl.obolibrary.org/obo/DOID_9890 obsolete intermittent alternating esotropia http://purl.obolibrary.org/obo/DOID_9891 obsolete alternating esotropia with V pattern http://purl.obolibrary.org/obo/DOID_0080823 near-fatal asthma http://purl.obolibrary.org/obo/DOID_0080810 acute asthma An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. http://purl.obolibrary.org/obo/DOID_2349 arteriosclerosis http://purl.obolibrary.org/obo/DOID_0050828 artery disease An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. http://purl.obolibrary.org/obo/NCBITaxon_3701030 Allotriocarida http://purl.obolibrary.org/obo/NCBITaxon_3701028 Altocrustacea http://purl.obolibrary.org/obo/NCBITaxon_6960 Hexapoda http://purl.obolibrary.org/obo/NCBITaxon_3701030 Allotriocarida http://purl.obolibrary.org/obo/DOID_9899 obsolete glaucoma associated with tumors or cysts http://purl.obolibrary.org/obo/DOID_0080824 persistent severe asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. http://purl.obolibrary.org/obo/DOID_235 colonic benign neoplasm http://purl.obolibrary.org/obo/DOID_5353 colonic disease An intestinal benign neoplasm that is located_in the colon. http://purl.obolibrary.org/obo/NCBITaxon_6683 Decapoda http://purl.obolibrary.org/obo/NCBITaxon_3701045 Stomatocarida http://purl.obolibrary.org/obo/DOID_9900 obsolete protracted reactive paranoid psychosis http://purl.obolibrary.org/obo/DOID_0080825 thunderstorm triggered asthma http://purl.obolibrary.org/obo/DOID_9415 allergic asthma An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen. http://purl.obolibrary.org/obo/DOID_0080826 nocturnal asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. http://purl.obolibrary.org/obo/DOID_2355 anemia http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/NCBITaxon_3701062 Aparaglossata http://purl.obolibrary.org/obo/DOID_9913 obsolete axillary metastasis http://purl.obolibrary.org/obo/DOID_0112060 Raynaud-Claes syndrome http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_2361 macrocytic anemia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL). http://purl.obolibrary.org/obo/DOID_10472 obsolete candidal pneumonia A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain. http://purl.obolibrary.org/obo/DOID_9915 obsolete malignant neoplasm of ribs, sternum and clavicle http://purl.obolibrary.org/obo/DOID_0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. http://purl.obolibrary.org/obo/DOID_2365 West Nile encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. http://purl.obolibrary.org/obo/DOID_10508 obsolete Bacillus anthracis pneumonia A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis. http://purl.obolibrary.org/obo/DOID_10510 obsolete influenza virus pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills. http://purl.obolibrary.org/obo/DOID_10527 obsolete Haemophilus influenzae pneumonia A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless. http://purl.obolibrary.org/obo/DOID_9916 obsolete secondary malignant neoplasm to the chest wall http://purl.obolibrary.org/obo/DOID_0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_2377 multiple sclerosis http://purl.obolibrary.org/obo/DOID_3213 demyelinating disease A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. http://purl.obolibrary.org/obo/DOID_10531 obsolete pneumococcal pneumonia A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting. http://purl.obolibrary.org/obo/DOID_9919 obsolete malignant neoplasm of thoracic esophagus http://purl.obolibrary.org/obo/DOID_9925 obsolete hyperostosis frontalis interna http://purl.obolibrary.org/obo/DOID_0112063 X-Linked immunodeficiency 74 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_2383 neonatal jaundice http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. http://purl.obolibrary.org/obo/DOID_10532 obsolete streptococcal pneumonia A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias. http://purl.obolibrary.org/obo/DOID_9929 obsolete meningococcal meningitis http://purl.obolibrary.org/obo/DOID_0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. http://purl.obolibrary.org/obo/DOID_2394 ovarian cancer http://purl.obolibrary.org/obo/DOID_120 female reproductive organ cancer A female reproductive organ cancer that is located_in the ovary. http://purl.obolibrary.org/obo/DOID_10535 obsolete coxsackie myocarditis A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart. http://purl.obolibrary.org/obo/DOID_9930 obsolete primary Neisseriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency http://purl.obolibrary.org/obo/DOID_0060536 mitochondrial complex I deficiency A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. http://purl.obolibrary.org/obo/DOID_2452 thrombophilia http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease that is characterized by an increased tendency to form clots. http://purl.obolibrary.org/obo/DOID_10545 obsolete coxsackievirus infectious disease An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. http://purl.obolibrary.org/obo/DOID_9940 obsolete Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_0112066 nuclear type mitochondrial complex I deficiency 6 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_2456 blepharoconjunctivitis http://purl.obolibrary.org/obo/DOID_9423 blepharitis A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. http://purl.obolibrary.org/obo/DOID_10551 obsolete cerebral toxoplasmosis A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. http://purl.obolibrary.org/obo/DOID_9943 obsolete syphilitic episcleritis http://purl.obolibrary.org/obo/DOID_0112067 nuclear type mitochondrial complex I deficiency 25 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. http://purl.obolibrary.org/obo/DOID_2468 psychotic disorder http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. http://purl.obolibrary.org/obo/DOID_10564 obsolete gangosa of yaws A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue. http://purl.obolibrary.org/obo/DOID_9989 obsolete metastasis to the orbit http://purl.obolibrary.org/obo/DOID_2473 opportunistic mycosis http://purl.obolibrary.org/obo/DOID_0050136 systemic mycosis A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. http://purl.obolibrary.org/obo/DOID_0112068 nuclear type mitochondrial complex I deficiency 5 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. http://purl.obolibrary.org/obo/DOID_10731 obsolete nodular lung tuberculosis A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. http://purl.obolibrary.org/obo/DOID_9995 obsolete endocrine and metabolic disturbances specific to the fetus and newborn http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/DOID_0050001 obsolete Actinomadura madurae infectious disease http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia http://purl.obolibrary.org/obo/DOID_607 paraplegia A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. http://purl.obolibrary.org/obo/DOID_0112069 nuclear type mitochondrial complex I deficiency 22 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. http://purl.obolibrary.org/obo/DOID_1077 obsolete Spirurida infectious disease A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida. http://purl.obolibrary.org/obo/DOID_0050002 obsolete Actinomadura pelletieri infectious disease http://purl.obolibrary.org/obo/DOID_2494 angiodysplasia http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized as a small vascular malformation of the gut. http://purl.obolibrary.org/obo/DOID_0112070 nuclear type mitochondrial complex I deficiency 18 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. http://purl.obolibrary.org/obo/DOID_1078 obsolete Chromadorea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands. http://purl.obolibrary.org/obo/DOID_0050003 obsolete Streptomyces somaliensis infectious disease http://purl.obolibrary.org/obo/DOID_0112071 nuclear type mitochondrial complex I deficiency 31 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. http://purl.obolibrary.org/obo/DOID_2527 nephrosis http://purl.obolibrary.org/obo/DOID_576 proteinuria A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation. http://purl.obolibrary.org/obo/DOID_10902 obsolete pulmonary actinomycosis An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses. http://purl.obolibrary.org/obo/DOID_0050024 obsolete Ehrlichia ewingii ehrlichiosis http://purl.obolibrary.org/obo/DOID_0112072 nuclear type mitochondrial complex I deficiency 20 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. http://purl.obolibrary.org/obo/DOID_2531 hematologic cancer http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. http://purl.obolibrary.org/obo/DOID_10910 obsolete echovirus meningitis A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness. http://purl.obolibrary.org/obo/DOID_0050053 obsolete Rickettsia honei spotted fever http://purl.obolibrary.org/obo/DOID_0112073 nuclear type mitochondrial complex I deficiency 9 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment. http://purl.obolibrary.org/obo/DOID_10911 obsolete echovirus infectious disease An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. http://purl.obolibrary.org/obo/DOID_0050063 obsolete abortive plague http://purl.obolibrary.org/obo/DOID_0112074 nuclear type mitochondrial complex I deficiency 1 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/DOID_255 hemangioma http://purl.obolibrary.org/obo/DOID_178 vascular disease A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood. http://purl.obolibrary.org/obo/DOID_10919 obsolete transsexualism A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. http://purl.obolibrary.org/obo/DOID_0050065 obsolete cutaneous listeriosis http://purl.obolibrary.org/obo/DOID_0112075 nuclear type mitochondrial complex I deficiency 10 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. http://purl.obolibrary.org/obo/DOID_2557 chondromalacia http://purl.obolibrary.org/obo/DOID_6227 articular cartilage disease A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint. http://purl.obolibrary.org/obo/DOID_10957 obsolete Enterobacter aerogenes intestinal infectious disease An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers. http://purl.obolibrary.org/obo/DOID_0050066 obsolete Listeria meningoencephalitis http://purl.obolibrary.org/obo/DOID_10958 obsolete Salmonella arizonae intestinal infectious disease A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea. http://purl.obolibrary.org/obo/DOID_0112076 nuclear type mitochondrial complex I deficiency 13 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. http://purl.obolibrary.org/obo/DOID_2568 cervicitis http://purl.obolibrary.org/obo/DOID_2253 cervix disease A cervix disease that is characterized by inflammation of the cervix. http://purl.obolibrary.org/obo/DOID_0050067 obsolete Listeria septicaemia http://purl.obolibrary.org/obo/DOID_10959 obsolete Escherichia coli intestinal infectious disease A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting. http://purl.obolibrary.org/obo/DOID_0112077 nuclear type mitochondrial complex I deficiency 15 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1. http://purl.obolibrary.org/obo/DOID_2580 rhizomelic chondrodysplasia punctata http://purl.obolibrary.org/obo/DOID_2581 chondrodysplasia punctata A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. http://purl.obolibrary.org/obo/DOID_2581 chondrodysplasia punctata http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency that is caused by a reduction in all types of gamma globulins. http://purl.obolibrary.org/obo/DOID_0050069 obsolete Yersinia pestis infectious disease http://purl.obolibrary.org/obo/DOID_10978 obsolete poliovirus type III nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/DOID_0112078 nuclear type mitochondrial complex I deficiency 17 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_2596 larynx cancer http://purl.obolibrary.org/obo/DOID_786 laryngeal disease A respiratory system cancer that is located_in the larynx. http://purl.obolibrary.org/obo/DOID_0050070 obsolete plague meningitis http://purl.obolibrary.org/obo/DOID_10979 obsolete poliovirus type I nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/DOID_0112079 nuclear type mitochondrial complex I deficiency 24 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. http://purl.obolibrary.org/obo/DOID_26 pancreas disease http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease that is located_in the pancreas. http://purl.obolibrary.org/obo/DOID_0050078 obsolete cervix tuberculosis http://purl.obolibrary.org/obo/DOID_0050079 obsolete niacin deficiency http://purl.obolibrary.org/obo/DOID_0050080 obsolete iodine deficiency http://purl.obolibrary.org/obo/DOID_0050123 obsolete tuberculous encephalitis http://purl.obolibrary.org/obo/DOID_0050162 obsolete influenza encephalopathy http://purl.obolibrary.org/obo/DOID_10980 obsolete poliovirus type II nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/DOID_0112080 nuclear type mitochondrial complex I deficiency 32 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/DOID_2602 chondroma http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. http://purl.obolibrary.org/obo/DOID_0050163 obsolete influenza myocarditis http://purl.obolibrary.org/obo/DOID_0050164 obsolete influenza myositis http://purl.obolibrary.org/obo/DOID_0050265 obsolete tick paralysis http://purl.obolibrary.org/obo/DOID_11092 obsolete Salmonella gastroenteritis A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness. http://purl.obolibrary.org/obo/DOID_0112081 nuclear type mitochondrial complex I deficiency 8 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_0112082 nuclear type mitochondrial complex I deficiency 4 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0112083 nuclear type mitochondrial complex I deficiency 2 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0112084 nuclear type mitochondrial complex I deficiency 29 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_0112085 nuclear type mitochondrial complex I deficiency 19 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2. http://purl.obolibrary.org/obo/DOID_0112086 nuclear type mitochondrial complex I deficiency 26 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. http://purl.obolibrary.org/obo/DOID_2615 papilloma http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue. http://purl.obolibrary.org/obo/DOID_0050267 obsolete Ancylostoma caninum ancylostomiasis http://purl.obolibrary.org/obo/DOID_11093 obsolete bacterial gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting. http://purl.obolibrary.org/obo/DOID_0112087 nuclear type mitochondrial complex I deficiency 23 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. http://purl.obolibrary.org/obo/DOID_2658 dermoid cyst http://purl.obolibrary.org/obo/DOID_2660 cystic teratoma A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). http://purl.obolibrary.org/obo/DOID_0050297 obsolete primary Francisellaceae infectious disease http://purl.obolibrary.org/obo/DOID_11097 obsolete pulmonary syphilis A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever. http://purl.obolibrary.org/obo/DOID_0050306 obsolete familial abdominal aortic aneurysm http://purl.obolibrary.org/obo/DOID_0050310 obsolete primary Listeriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0050311 obsolete primary Helicobacteraceae infectious disease http://purl.obolibrary.org/obo/DOID_0112088 nuclear type mitochondrial complex I deficiency 21 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_2703 synovitis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. http://purl.obolibrary.org/obo/DOID_11167 obsolete uterine cervix condylomata acuminata An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts. http://purl.obolibrary.org/obo/DOID_0050312 obsolete primary Campylobacteraceae infectious disease http://purl.obolibrary.org/obo/DOID_0050313 obsolete primary Brucellaceae infectious disease http://purl.obolibrary.org/obo/DOID_0050314 obsolete primary Erysipelotrichaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112089 nuclear type mitochondrial complex I deficiency 11 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1. http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease http://purl.obolibrary.org/obo/DOID_409 liver disease A vascular disease that is located_in the liver. http://purl.obolibrary.org/obo/DOID_11169 obsolete vaginal condylomata acuminata An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts. http://purl.obolibrary.org/obo/DOID_0050315 obsolete commensal Clostridiaceae infectious disease http://purl.obolibrary.org/obo/DOID_11170 obsolete vulvar condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts. http://purl.obolibrary.org/obo/DOID_0112090 nuclear type mitochondrial complex I deficiency 27 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. http://purl.obolibrary.org/obo/DOID_2722 acrodermatitis http://purl.obolibrary.org/obo/DOID_2723 dermatitis A dermatitis that selectively affects the hands and feet. http://purl.obolibrary.org/obo/DOID_0050316 obsolete commensal Staphylococcaceae infectious disease http://purl.obolibrary.org/obo/DOID_11171 obsolete urethral condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts. http://purl.obolibrary.org/obo/DOID_0112091 nuclear type mitochondrial complex I deficiency 34 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_2723 dermatitis http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. http://purl.obolibrary.org/obo/DOID_11172 obsolete anal condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts. http://purl.obolibrary.org/obo/DOID_0050317 obsolete commensal Streptococcaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112092 nuclear type mitochondrial complex I deficiency 7 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. http://purl.obolibrary.org/obo/DOID_2731 vesiculobullous skin disease http://purl.obolibrary.org/obo/DOID_8502 bullous skin disease A bullous skin disease that is characterized by fluid filled blisters. http://purl.obolibrary.org/obo/DOID_11179 obsolete otitis media with effusion A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. http://purl.obolibrary.org/obo/DOID_0050318 obsolete primary Burkholderiaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112093 nuclear type mitochondrial complex I deficiency 3 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_2741 bilirubin metabolic disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. http://purl.obolibrary.org/obo/DOID_11182 obsolete chronic otitis media with effusion A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting. http://purl.obolibrary.org/obo/DOID_0050319 obsolete primary Legionellaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112094 nuclear type mitochondrial complex I deficiency 14 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/DOID_0050155 sensory system disease A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. http://purl.obolibrary.org/obo/DOID_0050320 obsolete commensal Alcaligenaceae infectious disease http://purl.obolibrary.org/obo/DOID_11259 obsolete Cytomegalovirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. http://purl.obolibrary.org/obo/DOID_0112095 nuclear type mitochondrial complex I deficiency 28 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_11261 obsolete foot and mouth disease A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness. http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease http://purl.obolibrary.org/obo/DOID_0050728 glycogen metabolism disorder A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. http://purl.obolibrary.org/obo/DOID_0050321 obsolete opportunistic Pseudomonadaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112096 nuclear type mitochondrial complex I deficiency 16 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. http://purl.obolibrary.org/obo/DOID_11314 obsolete Histoplasma duboisii retinitis An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions. http://purl.obolibrary.org/obo/DOID_2762 bone carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0050322 obsolete primary Vibrionaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112097 nuclear type mitochondrial complex I deficiency 33 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_11340 obsolete Pneumocystis infectious disease An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. http://purl.obolibrary.org/obo/DOID_2769 tic disorder http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occurring intermittently and unpredictably out of a background of normal motor activity. http://purl.obolibrary.org/obo/DOID_0050323 obsolete primary Coxiellaceae infectious disease http://purl.obolibrary.org/obo/DOID_0112098 nuclear type mitochondrial complex I deficiency 30 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_11341 obsolete fungal lung infectious disease A lung disease that is a mycosis caused by fungal growth in the lungs. http://purl.obolibrary.org/obo/DOID_2786 cerebellar disease http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome. http://purl.obolibrary.org/obo/DOID_0050327 obsolete peripheral dysostosis http://purl.obolibrary.org/obo/DOID_0112099 nuclear type mitochondrial complex I deficiency 12 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_11404 obsolete diphtheritic laryngotracheitis A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough. http://purl.obolibrary.org/obo/DOID_2789 parasitic protozoa infectious disease http://purl.obolibrary.org/obo/DOID_1398 parasitic infectious disease A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. http://purl.obolibrary.org/obo/DOID_0050333 obsolete congenital anosmia http://purl.obolibrary.org/obo/DOID_0112100 mitochondrial type mitochondrial complex I deficiency http://purl.obolibrary.org/obo/DOID_0060536 mitochondrial complex I deficiency A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome. http://purl.obolibrary.org/obo/DOID_11418 obsolete Trichomonas urethritis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination. http://purl.obolibrary.org/obo/DOID_2797 idiopathic interstitial pneumonia http://purl.obolibrary.org/obo/DOID_552 pneumonia A pneumonia located_in the lung parenchyma of unknown cause. http://purl.obolibrary.org/obo/DOID_0050334 obsolete thiourea tasting http://purl.obolibrary.org/obo/DOID_0112101 mitochondrial type mitochondrial complex I deficiency 1 http://purl.obolibrary.org/obo/DOID_0112100 mitochondrial type mitochondrial complex I deficiency A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome. http://purl.obolibrary.org/obo/DOID_11523 obsolete Clostridium perfringens gastroenteritis A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas. http://purl.obolibrary.org/obo/DOID_28 endocrine system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. http://purl.obolibrary.org/obo/DOID_0050337 obsolete Burkholderia cepacia infectious disease http://purl.obolibrary.org/obo/DOID_0070374 leukoencephalopathy with vanishing white matter 1 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_11607 obsolete candidal meningitis A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses. http://purl.obolibrary.org/obo/DOID_2841 asthma http://purl.obolibrary.org/obo/DOID_1176 bronchial disease A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. http://purl.obolibrary.org/obo/DOID_0050341 obsolete opportunistic Actinomycetales infectious disease http://purl.obolibrary.org/obo/DOID_0081422 familial focal epilepsy with variable foci 2 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_11680 obsolete ocular onchocerciasis A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness. http://purl.obolibrary.org/obo/DOID_2843 long QT syndrome http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). http://purl.obolibrary.org/obo/DOID_0050343 obsolete Gardnerella vaginalis vaginosis http://purl.obolibrary.org/obo/DOID_0081429 autosomal recessive distal hereditary motor neuronopathy 10 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_11699 obsolete intrathoracic lymph node tuberculosis A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe. http://purl.obolibrary.org/obo/DOID_285 hairy cell leukemia http://purl.obolibrary.org/obo/DOID_1040 chronic lymphocytic leukemia A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope. http://purl.obolibrary.org/obo/DOID_0050344 obsolete commensal Bifidobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0081403 BCOR ITD sarcoma http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. http://purl.obolibrary.org/obo/DOID_11741 obsolete Chlamydophila pneumoniae pneumonia A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress. http://purl.obolibrary.org/obo/DOID_2862 glucosephosphate dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). http://purl.obolibrary.org/obo/DOID_0050345 obsolete primary Thermomonosporaceae infectious disease http://purl.obolibrary.org/obo/DOID_0081412 B-lymphoblastic leukemia with DUX4 rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. http://purl.obolibrary.org/obo/DOID_11892 obsolete Amoebozoa infectious disease A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa. http://purl.obolibrary.org/obo/DOID_289 endometriosis http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. http://purl.obolibrary.org/obo/DOID_0050346 obsolete primary Corynebacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0081405 childhood sarcoma with BCOR genetic alterations http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations A sarcoma with BCOR genetic alterations that occurs during childhood. http://purl.obolibrary.org/obo/DOID_11893 obsolete cutaneous amebiasis An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body. http://purl.obolibrary.org/obo/DOID_2914 immune system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in the immune system. http://purl.obolibrary.org/obo/DOID_2916 hypersensitivity reaction type IV disease http://purl.obolibrary.org/obo/DOID_0060056 hypersensitivity reaction disease A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response. http://purl.obolibrary.org/obo/DOID_0050347 obsolete primary Mycobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0081410 round cell sarcoma with FUS-NFATC2 gene fusion http://purl.obolibrary.org/obo/DOID_0081406 round cell sarcoma with EWSR1-non-ETS fusion A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. http://purl.obolibrary.org/obo/DOID_11896 obsolete Acanthamoeba keratitis A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye. http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/DOID_10952 nephritis A nephritis that causes inflammation of the glomeruli located_in kidney. http://purl.obolibrary.org/obo/DOID_0050348 obsolete primary Streptomycetaceae infectious disease http://purl.obolibrary.org/obo/DOID_0070604 autosomal dominant nonsyndromic deafness 84 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_11897 obsolete Blastocystis hominis infectious disease A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence. http://purl.obolibrary.org/obo/DOID_2952 inner ear disease http://purl.obolibrary.org/obo/DOID_2742 auditory system disease An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium. http://purl.obolibrary.org/obo/DOID_0050349 obsolete opportunistic Nocardiaceae infectious disease http://purl.obolibrary.org/obo/DOID_0060985 preaxial polydactyly type IV http://purl.obolibrary.org/obo/DOID_1148 polydactyly A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14. http://purl.obolibrary.org/obo/DOID_11902 obsolete cerebral amebiasis An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses. http://purl.obolibrary.org/obo/DOID_2959 hyperimmunoglobulin syndrome http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. http://purl.obolibrary.org/obo/DOID_0050350 obsolete primary Clostridiaceae infectious disease http://purl.obolibrary.org/obo/DOID_0070609 autosomal dominant nonsyndromic deafness 83 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_11943 obsolete Trichomonas vaginitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. http://purl.obolibrary.org/obo/DOID_2965 bursitis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that is characterized by the inflammation of bursae, small, fluid-filled sacs that cushion the bones, tendons and muscles near your joints. http://purl.obolibrary.org/obo/DOID_0050351 obsolete primary Clostridium infectious disease http://purl.obolibrary.org/obo/DOID_0061237 aggressive periodontitis 1 http://purl.obolibrary.org/obo/DOID_1474 aggressive periodontitis A periodontitis that has_material_basis_in homozygous mutation in the CTSC gene on chromosome 11q14. http://purl.obolibrary.org/obo/DOID_11944 obsolete Trichomonas prostatitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis. http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. http://purl.obolibrary.org/obo/DOID_0050355 obsolete opportunistic Burkholderiaceae infectious disease http://purl.obolibrary.org/obo/DOID_0061238 Stargardt disease 3 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by macular pigmentary changes and yellow flecks and macular retinal pigment epithelium defects and has_material_basis_in heterozygous mutation in the ELOVL4 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_11945 obsolete Trichomonas cystitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color. http://purl.obolibrary.org/obo/DOID_299 adenocarcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. http://purl.obolibrary.org/obo/DOID_0050357 obsolete Burkholderia cenocepacia infectious disease http://purl.obolibrary.org/obo/DOID_0061239 Stargardt disease 4 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina and has_material_basis_in heterozygous mutation in the prominin-1 gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_11964 obsolete Histoplasma capsulatum retinitis An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions. http://purl.obolibrary.org/obo/DOID_2998 testicular cancer http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer A male reproductive system cancer that is located_in the testicles. http://purl.obolibrary.org/obo/DOID_0050358 obsolete commensal Chlamydiaceae infectious disease http://purl.obolibrary.org/obo/DOID_0061240 Stargardt disease 5 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by onset of macular dystrophy in the fifth decade of life, with mildly reduced visual acuity and normal amplitudes on electroretinography and has_material_basis_in homozygous mutation in the RDH8 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_12017 obsolete group B streptococcal pneumonia A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly. http://purl.obolibrary.org/obo/DOID_3004 breast myoepithelial neoplasm http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane. http://purl.obolibrary.org/obo/DOID_0050359 obsolete Bilophila wadsworthia necrotizing fasciitis http://purl.obolibrary.org/obo/DOID_0061241 Stargardt disease 1 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by juvenile-onset macular dystrophy with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks, defined as lipofuscin deposits, around the macula and/or in the central and near-peripheral areas of the retina and has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. http://purl.obolibrary.org/obo/DOID_12019 obsolete group A streptococcal pneumonia A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst. http://purl.obolibrary.org/obo/DOID_3013 intraductal breast benign neoplasm http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that is located_in the breast ducts. http://purl.obolibrary.org/obo/DOID_0050360 obsolete commensal Enterobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0061242 glucocorticoid deficiency 2 http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the MRAP gene, encoding melanocortin-2 receptor accessory protein, on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_12052 obsolete cryptococcal meningitis A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion. http://purl.obolibrary.org/obo/DOID_302 substance abuse http://purl.obolibrary.org/obo/DOID_303 substance-related disorder A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. http://purl.obolibrary.org/obo/DOID_0050361 obsolete opportunistic Enterobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0061243 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NNT gene on chromosome 5p12. http://purl.obolibrary.org/obo/DOID_12054 obsolete Trypanosoma meningitis A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species. http://purl.obolibrary.org/obo/DOID_303 substance-related disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. http://purl.obolibrary.org/obo/DOID_0050362 obsolete Elizabethkingia meningoseptica infectious disease http://purl.obolibrary.org/obo/DOID_0061244 glucocorticoid deficiency 5 http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the TXNRD2 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_12115 obsolete streptococcal pharyngitis A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills. http://purl.obolibrary.org/obo/DOID_3044 food allergy http://purl.obolibrary.org/obo/DOID_0060502 gastrointestinal allergy A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. http://purl.obolibrary.org/obo/DOID_0050363 obsolete Capnocytophaga canimorsus infectious disease http://purl.obolibrary.org/obo/DOID_0061245 periventricular nodular heterotopia 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development that has_material_basis_in heterozygous mutation in the ARF1 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_12133 obsolete Yersinia enterocolitica intestinal infectious disease A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children). http://purl.obolibrary.org/obo/DOID_305 carcinoma http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0050364 obsolete opportunistic Flavobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0061246 periventricular nodular heterotopia 9 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A periventricular nodular heterotopia characterized as a malformation of cortical development that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_12141 obsolete adenovirus meningitis An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion. http://purl.obolibrary.org/obo/DOID_3068 glioblastoma http://purl.obolibrary.org/obo/DOID_3069 malignant astrocytoma A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. http://purl.obolibrary.org/obo/DOID_3070 high grade glioma http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine. http://purl.obolibrary.org/obo/DOID_0050365 obsolete Chryseobacterium indologenes infectious disease http://purl.obolibrary.org/obo/DOID_0070668 Snijders Blok-Campeau syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that has_material_basis_in heterozygous mutation in the CHD3 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_122 obsolete abdominal cancer A cancer by anatomical entitiy that affects the organs in the abdominal cavity. http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. http://purl.obolibrary.org/obo/DOID_0050366 obsolete Empedobacter brevis endophthalmitis http://purl.obolibrary.org/obo/SYMP_0000327 tetanic convulsion http://purl.obolibrary.org/obo/SYMP_0000596 convulsion A convulsion that is characterized by a tonic spasm (prolonged contraction of the muscles), without loss of consciousness and often associated with hypocalcemia. http://purl.obolibrary.org/obo/DOID_1221 obsolete infiltrative lung tuberculosis A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung. http://purl.obolibrary.org/obo/DOID_0060901 lymphoplasmacytic lymphoma http://purl.obolibrary.org/obo/DOID_707 B-cell lymphoma A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. http://purl.obolibrary.org/obo/DOID_3093 nervous system cancer http://purl.obolibrary.org/obo/DOID_863 nervous system disease An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. http://purl.obolibrary.org/obo/DOID_0050367 obsolete Myroides odoratus necrotizing fasciitis http://purl.obolibrary.org/obo/DOID_12210 obsolete Wuchereria bancrofti filariasis A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis. http://purl.obolibrary.org/obo/DOID_3117 hepatobiliary benign neoplasm http://purl.obolibrary.org/obo/DOID_0050624 gastrointestinal system benign neoplasm A gastrointestinal system benign neoplasm located_in the hepatobiliary system. http://purl.obolibrary.org/obo/DOID_0060902 Norman-Roberts syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_12245 obsolete histoplasmosis endocarditis A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. http://purl.obolibrary.org/obo/DOID_0050368 obsolete commensal Fusobacteriaceae infectious disease http://purl.obolibrary.org/obo/DOID_3119 gastrointestinal system cancer http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. http://purl.obolibrary.org/obo/DOID_0080180 Zika virus congenital syndrome http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus (Orthoflavivirus zikaense) infection in utero. http://purl.obolibrary.org/obo/DOID_12252 obsolete Cushing's syndrome An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. http://purl.obolibrary.org/obo/DOID_0050369 obsolete primary Mycoplasmataceae infectious disease http://purl.obolibrary.org/obo/DOID_3121 gallbladder cancer http://purl.obolibrary.org/obo/DOID_0060262 gallbladder disease A biliary tract cancer that is located_in the gallbladder. http://purl.obolibrary.org/obo/DOID_0080181 PHARC syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. http://purl.obolibrary.org/obo/DOID_12302 obsolete diphtheritic membranous angina A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils. http://purl.obolibrary.org/obo/DOID_12404 obsolete tinea A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin. http://purl.obolibrary.org/obo/DOID_0050370 obsolete commensal Neisseriaceae infectious disease http://purl.obolibrary.org/obo/DOID_0050371 obsolete commensal Pasteurellaceae infectious disease http://purl.obolibrary.org/obo/DOID_0050372 obsolete commensal Haemophilus infectious disease http://purl.obolibrary.org/obo/DOID_3128 anus disease http://purl.obolibrary.org/obo/DOID_1285 rectal disease A rectal disease located_in the anus. http://purl.obolibrary.org/obo/DOID_0080182 mixed fibrolamellar hepatocellular carcinoma http://purl.obolibrary.org/obo/DOID_5015 fibrolamellar carcinoma A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. http://purl.obolibrary.org/obo/DOID_1253 obsolete Enoplea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands. http://purl.obolibrary.org/obo/DOID_0050373 obsolete Leptospiraceae infectious disease http://purl.obolibrary.org/obo/DOID_3133 acute porphyria http://purl.obolibrary.org/obo/DOID_13268 porphyria A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that has_material_basis_in Coronavirus. http://purl.obolibrary.org/obo/DOID_12569 obsolete Chagas cardiomyopathy A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death. http://purl.obolibrary.org/obo/DOID_0050374 obsolete Spirochaetaceae infectious disease http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves the creation and degradation of lipids. http://purl.obolibrary.org/obo/DOID_0080602 benign teratoma http://purl.obolibrary.org/obo/DOID_0080601 germ cell benign neoplasm A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. http://purl.obolibrary.org/obo/DOID_3151 skin squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_3451 skin carcinoma A skin carcinoma that has_material_basis_in squamous cells. http://purl.obolibrary.org/obo/DOID_12608 obsolete staphylococcal pneumonia A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. http://purl.obolibrary.org/obo/DOID_0050375 obsolete primary Spirillaceae infectious disease http://purl.obolibrary.org/obo/NCIT_C163032 Botulinum Toxin http://purl.obolibrary.org/obo/CHEBI_27026 toxin A biological toxin that is botulinum toxin, caused by a toxin made by a bacterium called Clostridium botulinum. http://purl.obolibrary.org/obo/DOID_3168 squamous cell neoplasm http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. http://purl.obolibrary.org/obo/DOID_12633 obsolete cervicofacial actinomycosis An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. http://purl.obolibrary.org/obo/DOID_0050376 obsolete anaplasmosis http://purl.obolibrary.org/obo/DOID_0070368 autosomal recessive chronic granulomatous disease 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_3187 brain oligodendroglioma http://purl.obolibrary.org/obo/DOID_0060108 brain glioma A brain glioma that has_material_basis_in oligodendrocytes. http://purl.obolibrary.org/obo/DOID_12634 obsolete cerebral actinomycosis An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess. http://purl.obolibrary.org/obo/DOID_0050377 obsolete Burkholderia cepacia complex infectious disease http://purl.obolibrary.org/obo/DOID_0081328 familial hyperinsulinemic hypoglycemia 8 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_3192 neurilemmoma http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells. http://purl.obolibrary.org/obo/DOID_1265 obsolete genitourinary cancer An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs. http://purl.obolibrary.org/obo/DOID_0050378 obsolete opportunistic Campylobacteraceae infectious disease http://purl.obolibrary.org/obo/DOID_0081331 glycogen storage disease Ic http://purl.obolibrary.org/obo/DOID_0081329 glycogen storage disease I A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. http://purl.obolibrary.org/obo/DOID_3209 junctional epidermolysis bullosa http://purl.obolibrary.org/obo/DOID_2730 epidermolysis bullosa An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. http://purl.obolibrary.org/obo/DOID_12710 obsolete Histoplasma duboisii pneumonia An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. http://purl.obolibrary.org/obo/DOID_12739 obsolete bronchial tuberculosis A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways. http://purl.obolibrary.org/obo/DOID_0050379 obsolete Campylobacter fetus infectious disease http://purl.obolibrary.org/obo/DOID_0081413 renal cell carcinoma with MiT translocations http://purl.obolibrary.org/obo/DOID_4450 renal cell carcinoma A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. http://purl.obolibrary.org/obo/DOID_1275 obsolete Pneumovirus infectious disease A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions. http://purl.obolibrary.org/obo/DOID_0050380 obsolete Campylobacter coli infectious disease http://purl.obolibrary.org/obo/DOID_0081399 autosomal dominant distal hereditary motor neuronopathy 10 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_3213 demyelinating disease http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons. http://purl.obolibrary.org/obo/DOID_12763 obsolete classic Kaposi's sarcoma A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet. http://purl.obolibrary.org/obo/DOID_0050381 obsolete Chlamydia trachomatis epididymitis http://purl.obolibrary.org/obo/DOID_0081445 sickle cell disease http://purl.obolibrary.org/obo/DOID_620 blood protein disease A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). http://purl.obolibrary.org/obo/DOID_3234 central nervous system lymphoma http://purl.obolibrary.org/obo/DOID_5772 central nervous system hematologic cancer A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. http://purl.obolibrary.org/obo/DOID_12765 obsolete peritonsillar abscess A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common. http://purl.obolibrary.org/obo/DOID_0050384 obsolete commensal Helicobacteraceae infectious disease http://purl.obolibrary.org/obo/DOID_0081446 dimethylglycine dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH gene on chromosome 5q14. http://purl.obolibrary.org/obo/DOID_3246 embryonal rhabdomyosarcoma http://purl.obolibrary.org/obo/DOID_3247 rhabdomyosarcoma A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. http://purl.obolibrary.org/obo/DOID_12773 obsolete endemic African Kaposi's sarcoma A Kaposi's sarcoma that is located_in black Africans. http://purl.obolibrary.org/obo/DOID_0050385 obsolete commensal Helicobacter infectious disease http://purl.obolibrary.org/obo/DOID_0081447 cone-rod dystrophy 21 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_326 ischemia http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized by a restriction in blood supply to tissues. http://purl.obolibrary.org/obo/DOID_12779 obsolete recurrent Kaposi's sarcoma A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes. http://purl.obolibrary.org/obo/DOID_0050386 obsolete Acinetobacter baumannii pneumonia http://purl.obolibrary.org/obo/DOID_0070553 focal palmoplantar and gingival keratosis http://purl.obolibrary.org/obo/DOID_3390 palmoplantar keratosis A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva. http://purl.obolibrary.org/obo/DOID_3277 thymus cancer http://purl.obolibrary.org/obo/DOID_5093 thoracic cancer An immune system cancer located_in the thymus. http://purl.obolibrary.org/obo/DOID_12819 obsolete Clostridium difficile intestinal infectious disease A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain. http://purl.obolibrary.org/obo/DOID_0050388 obsolete Bacteroides fragilis peritonitis http://purl.obolibrary.org/obo/DOID_0060975 polycystic liver disease 2 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_3302 chordoma http://purl.obolibrary.org/obo/DOID_3303 notochordal cancer A notochordal cancer that derives_from cellular remnants of the notochord. http://purl.obolibrary.org/obo/DOID_12840 obsolete Ancylostoma ceylanicum ancylostomiasis An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine. http://purl.obolibrary.org/obo/DOID_0050389 obsolete Capnocytophaga canimorsus meningitis http://purl.obolibrary.org/obo/DOID_0050390 obsolete Capnocytophaga canimorsus endocarditis http://purl.obolibrary.org/obo/DOID_0060977 polycystic liver disease 4 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_3306 mixed germ cell cancer http://purl.obolibrary.org/obo/DOID_2994 germ cell cancer A germ cell cancer that occurs in many forms. http://purl.obolibrary.org/obo/DOID_12888 obsolete Chlamydophila psittaci pneumonia An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum. http://purl.obolibrary.org/obo/DOID_0050391 obsolete Elizabethkingia meningoseptica meningitis http://purl.obolibrary.org/obo/DOID_0070548 primary pigmented nodular adrenocortical disease 3 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3. http://purl.obolibrary.org/obo/DOID_331 central nervous system disease http://purl.obolibrary.org/obo/DOID_863 nervous system disease A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. http://purl.obolibrary.org/obo/DOID_1301 obsolete RNA virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material. http://purl.obolibrary.org/obo/DOID_0050392 obsolete streptococcal necrotizing fasciitis http://purl.obolibrary.org/obo/DOID_0070555 Nagashima-type palmoplantar keratosis http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33. http://purl.obolibrary.org/obo/DOID_3310 atopic dermatitis http://purl.obolibrary.org/obo/DOID_3042 allergic contact dermatitis An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. http://purl.obolibrary.org/obo/DOID_13019 obsolete cryptococcal gastroenteritis A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain. http://purl.obolibrary.org/obo/DOID_0050393 obsolete Chryseobacterium indologenes pneumonia http://purl.obolibrary.org/obo/DOID_0081455 auto-brewery syndrome http://purl.obolibrary.org/obo/DOID_0060158 acquired metabolic disease An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. http://purl.obolibrary.org/obo/DOID_3312 bipolar disorder http://purl.obolibrary.org/obo/DOID_3324 mood disorder A mood disorder that involves alternating periods of mania and depression. http://purl.obolibrary.org/obo/DOID_13020 obsolete pulmonary cryptococcosis A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing. http://purl.obolibrary.org/obo/DOID_0050394 obsolete nocardial pneumonia http://purl.obolibrary.org/obo/DOID_0081456 bladder fermentation syndrome http://purl.obolibrary.org/obo/DOID_0060158 acquired metabolic disease An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. http://purl.obolibrary.org/obo/DOID_3315 lipoma http://purl.obolibrary.org/obo/DOID_0060123 connective tissue benign neoplasm A cell type benign neoplasm that is composed of lipocytes. http://purl.obolibrary.org/obo/DOID_13021 obsolete AIDS-related cryptococcosis A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV. http://purl.obolibrary.org/obo/DOID_0050395 obsolete nocardial cellulitis http://purl.obolibrary.org/obo/DOID_0081457 intrathyroid thymic carcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. http://purl.obolibrary.org/obo/DOID_332 amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/DOID_231 motor neuron disease A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. http://purl.obolibrary.org/obo/DOID_0081458 thyroid gland cribriform morular carcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. http://purl.obolibrary.org/obo/DOID_13032 obsolete Trichomonas balanoposthitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin. http://purl.obolibrary.org/obo/DOID_0050396 obsolete nocardial keratitis http://purl.obolibrary.org/obo/DOID_3324 mood disorder http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that involves a disturbance in mood as the predominant underlying feature. http://purl.obolibrary.org/obo/DOID_0081461 thyroid gland spindle epithelial tumor with thymus-like elements http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. http://purl.obolibrary.org/obo/DOID_13047 obsolete Ancylostoma braziliense ancylostomiasis An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions. http://purl.obolibrary.org/obo/DOID_0050397 obsolete cerebral Bilophila wadsworthia infectious disease http://purl.obolibrary.org/obo/DOID_3328 temporal lobe epilepsy http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes. http://purl.obolibrary.org/obo/DOID_0060987 preaxial polydactyly I http://purl.obolibrary.org/obo/DOID_1148 polydactyly A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_13049 obsolete Ancylostoma duodenale ancylostomiasis An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia. http://purl.obolibrary.org/obo/DOID_0050399 obsolete Bordetella pertussis whooping cough http://purl.obolibrary.org/obo/DOID_3331 frontal lobe epilepsy http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain. http://purl.obolibrary.org/obo/DOID_0070601 autosomal dominant nonsyndromic deafness 37 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1. http://purl.obolibrary.org/obo/DOID_1305 obsolete AIDS dementia complex A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. http://purl.obolibrary.org/obo/DOID_0050400 obsolete Pseudomonas urinary tract infectious disease http://purl.obolibrary.org/obo/DOID_3342 bone inflammation disease http://purl.obolibrary.org/obo/DOID_0080001 bone disease A bone disease that results_in inflammation of the located_in bone. http://purl.obolibrary.org/obo/DOID_0060993 bent bone dysplasia syndrome 2 http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_1306 obsolete HIV encephalopathy An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change. http://purl.obolibrary.org/obo/DOID_0050401 obsolete Pseudomonas endocarditis http://purl.obolibrary.org/obo/DOID_3350 mesenchymal cell neoplasm http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. http://purl.obolibrary.org/obo/DOID_0070614 chromosome 11 partial duplication syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11. http://purl.obolibrary.org/obo/DOID_13076 obsolete abdominal actinomycosis An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation. http://purl.obolibrary.org/obo/DOID_0050402 obsolete Pseudomonas keratitis http://purl.obolibrary.org/obo/DOID_3369 Ewing sarcoma http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. http://purl.obolibrary.org/obo/DOID_0051092 Damseh-Danson neurodevelopmental disorder http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disability that is characterized by global developmental delay apparent from infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the SNX27 gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_13077 obsolete cutaneous actinomycosis An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules. http://purl.obolibrary.org/obo/DOID_0050403 obsolete commensal Mycoplasmatales infectious disease http://purl.obolibrary.org/obo/DOID_3371 chondrosarcoma http://purl.obolibrary.org/obo/DOID_0080639 bone sarcoma A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage. http://purl.obolibrary.org/obo/DOID_0051093 retinitis pigmentosa 102 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and loss of peripheral vision in adolescence, and eventual reduction in visual acuity with progression of disease and that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_1308 obsolete AIDS related complex A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss. http://purl.obolibrary.org/obo/DOID_0050404 obsolete commensal Mycoplasmataceae infectious disease http://purl.obolibrary.org/obo/DOID_0050405 obsolete Mycoplasma genitalium urethritis http://purl.obolibrary.org/obo/DOID_3388 periodontal disease http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth. http://purl.obolibrary.org/obo/DOID_0051094 retinitis pigmentosa 103 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-1 gene on chromosome 15q23. http://purl.obolibrary.org/obo/DOID_1311 obsolete HIV-associated nephropathy A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (greater than 3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. http://purl.obolibrary.org/obo/DOID_1313 obsolete HIV wasting syndrome An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. http://purl.obolibrary.org/obo/DOID_13149 obsolete tuberculous lung fibrosis A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred). http://purl.obolibrary.org/obo/DOID_0050406 obsolete Yersinia pseudotuberculosis mesenteric lymphadenitis http://purl.obolibrary.org/obo/DOID_3390 palmoplantar keratosis http://purl.obolibrary.org/obo/DOID_161 keratosis A keratosis characterized by abnormal thickening of the palms and the soles. http://purl.obolibrary.org/obo/DOID_0051095 retinitis pigmentosa 104 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13164 obsolete Bordetella pertussis pneumonia A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing. http://purl.obolibrary.org/obo/DOID_0050407 obsolete commensal Mycoplasma infectious disease http://purl.obolibrary.org/obo/DOID_3393 coronary artery disease http://purl.obolibrary.org/obo/DOID_0050828 artery disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. http://purl.obolibrary.org/obo/DOID_0051096 retinitis pigmentosa 105 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-8 gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_13165 obsolete Aspergillus pneumonia An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever. http://purl.obolibrary.org/obo/DOID_0050408 obsolete Staphylococcus aureus ecthyma http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain. http://purl.obolibrary.org/obo/DOID_0051097 retinitis pigmentosa 106 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-9 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13251 obsolete HIV enteropathy A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12. http://purl.obolibrary.org/obo/DOID_0050409 obsolete Streptococcus pyogenes ecthyma http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla. http://purl.obolibrary.org/obo/DOID_0051098 retinitis pigmentosa 107 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of RP ranging from the second decade to the sixth decade of life, with affected individuals experiencing night blindness, constriction of peripheral vision, and reduced visual acuity and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP20 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_13257 obsolete Histoplasma duboisii endocarditis An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. http://purl.obolibrary.org/obo/DOID_0050410 obsolete streptococcal erysipelas http://purl.obolibrary.org/obo/DOID_3426 vestibular disease http://purl.obolibrary.org/obo/DOID_2952 inner ear disease An inner ear disease that is located in the vestibular system. http://purl.obolibrary.org/obo/DOID_0051099 Paget disease of bone 7 http://purl.obolibrary.org/obo/DOID_5408 Paget disease of bone A Paget disease of bone that is characterized by persistent and long-lasting active bone resorption, resulting in severe skeletal deformities and high levels of serum alkaline phosphatase and bone turnover markers and that has_material_basis_in heterozygous mutation in the PFN1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_13273 obsolete Escherichia coli pneumonia A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages. http://purl.obolibrary.org/obo/DOID_0050411 obsolete Staphylococcus aureus erysipelas http://purl.obolibrary.org/obo/DOID_3437 laryngitis http://purl.obolibrary.org/obo/DOID_786 laryngeal disease A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. http://purl.obolibrary.org/obo/DOID_0070758 primary ciliary dyskinesia 46 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia that has_material_basis_in homozygous mutation in the STK36 gene on chromosome 2q35. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/DOID_13274 obsolete enzootic pneumonia of calves A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms. http://purl.obolibrary.org/obo/DOID_0050412 obsolete Streptococcus impetigo http://purl.obolibrary.org/obo/DOID_0050413 obsolete Staphylococcus aureus impetigo http://purl.obolibrary.org/obo/DOID_345 uterine disease http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is located_in the uterus. http://purl.obolibrary.org/obo/DOID_0070760 primary ciliary dyskinesia 47 and lissencephaly http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood and neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum, that has_material_basis_in homozygous mutation in the TP73 gene on chromosome 1p36. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/DOID_0070761 primary ciliary dyskinesia 48 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance, resulting from defects in the radial spokes and central pairs of microtubules in motile cilia that has_material_basis_in homozygous mutation in the NME5 gene on chromosome 5q31. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/DOID_13275 obsolete rickettsial pneumonia A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema. http://purl.obolibrary.org/obo/DOID_0050414 obsolete Streptococcus lymphangitis http://purl.obolibrary.org/obo/DOID_3451 skin carcinoma http://purl.obolibrary.org/obo/DOID_4159 skin cancer A skin cancer that is located_in tissues of the skin and develops from epithelial cells. http://purl.obolibrary.org/obo/DOID_0070762 primary ciliary dyskinesia 49 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance and male infertility due to defective flagellar morphology and function that has_material_basis_in compound heterozygous mutation in the CFAP74 gene on chromosome 1p36. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/DOID_13277 obsolete Mycoplasma hyopneumoniae pneumonia A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough. http://purl.obolibrary.org/obo/DOID_0050415 obsolete Staphylococcus aureus lymphangitis http://purl.obolibrary.org/obo/DOID_3459 breast carcinoma http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0050416 obsolete Streptococcus agalactiae meningitis http://purl.obolibrary.org/obo/DOID_0070763 primary ciliary dyskinesia 50 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by chronic sinusitis, bronchitis, and male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella resulting from defects or loss of the inner dynein arms of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH7 gene on chromosome 2q32. http://purl.obolibrary.org/obo/DOID_13278 obsolete Salmonella pneumonia A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation. http://purl.obolibrary.org/obo/DOID_13285 obsolete enteroinvasive Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever. http://purl.obolibrary.org/obo/DOID_3463 breast disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in the breast. http://purl.obolibrary.org/obo/DOID_0050417 obsolete Streptococcus equisimilis meningitis http://purl.obolibrary.org/obo/DOID_0070764 primary ciliary dyskinesia 51 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella, chronic rhinosinusitis and bronchitis, and recurrent upper and lower respiratory infections that has_material_basis_in homozygous or compound heterozygous mutation in the BRWD1 gene on chromosome 21q22. Situs abnormalities have been reported. http://purl.obolibrary.org/obo/DOID_13305 obsolete anterior nasal diphtheria A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy. http://purl.obolibrary.org/obo/DOID_13307 obsolete pseudomembranous diphtheritic conjunctivitis A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane. http://purl.obolibrary.org/obo/DOID_13308 obsolete diphtheritic myocarditis A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae. http://purl.obolibrary.org/obo/DOID_3479 uveal cancer http://purl.obolibrary.org/obo/DOID_3480 uveal disease An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes. http://purl.obolibrary.org/obo/DOID_0050418 obsolete Streptococcus zooepidemicus meningitis http://purl.obolibrary.org/obo/DOID_0070765 primary ciliary dyskinesia 52 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects that has_material_basis_in homozygous or compound heterozygous mutation in the DAW1 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_13309 obsolete nasopharyngeal diphtheria A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic bullneck apprearance. http://purl.obolibrary.org/obo/DOID_1332 obsolete Bunyaviridae infectious disease A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors. http://purl.obolibrary.org/obo/DOID_1333 obsolete african horse sickness A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue. http://purl.obolibrary.org/obo/DOID_0050420 obsolete primary Streptococcaceae infectious disease http://purl.obolibrary.org/obo/DOID_3480 uveal disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. http://purl.obolibrary.org/obo/DOID_0070766 primary ciliary dyskinesia 53 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by randomization of the left-right body asymmetry and respiratory symptoms that has_material_basis_in homozygous mutation in the CLXN gene on chromosome 8q11. http://purl.obolibrary.org/obo/DOID_13335 obsolete Toxoplasma hepatitis A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice. http://purl.obolibrary.org/obo/DOID_0050421 obsolete primary streptococcal infectious disease http://purl.obolibrary.org/obo/DOID_3482 plague http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. http://purl.obolibrary.org/obo/DOID_3490 Noonan syndrome http://purl.obolibrary.org/obo/DOID_0080690 RASopathy A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. http://purl.obolibrary.org/obo/DOID_0070767 primary ciliary dyskinesia 54 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by a mild respiratory phenotype including rhinitis, sinusitis, asthma, and bronchiectasis that has_material_basis_in compound heterozygous mutation in the CFAP54 gene on chromosome 12q23. Some abnormalities of spermatozoa have been reported, but their effect on male fertility is unclear. http://purl.obolibrary.org/obo/DOID_13338 obsolete Toxoplasma myocarditis A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain. http://purl.obolibrary.org/obo/DOID_0050422 obsolete Yersinia pseudotuberculosis gastroenteritis http://purl.obolibrary.org/obo/DOID_3491 Turner syndrome http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. http://purl.obolibrary.org/obo/DOID_3541 cerebral ventricle cancer http://purl.obolibrary.org/obo/DOID_368 cerebrum cancer A cerebrum cancer that is located_in the cerebral ventricles. http://purl.obolibrary.org/obo/DOID_0070768 peri-implant disease http://purl.obolibrary.org/obo/DOID_3388 periodontal disease A periodontal disease affecting the structures surrounding and supporting dental implants. http://purl.obolibrary.org/obo/DOID_1334 obsolete Reoviridae infectious disease A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses. http://purl.obolibrary.org/obo/DOID_0050423 obsolete enteroaggregative Escherichia coli infectious disease http://purl.obolibrary.org/obo/DOID_0050455 obsolete arachnodactyly http://purl.obolibrary.org/obo/DOID_3565 meningioma http://purl.obolibrary.org/obo/DOID_3620 central nervous system cancer A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. http://purl.obolibrary.org/obo/DOID_0070769 peri-implant mucositis http://purl.obolibrary.org/obo/DOID_0070768 peri-implant disease A peri-implant disease characterised by clinical signs of inflammation without loss of supporting bone. http://purl.obolibrary.org/obo/DOID_13342 obsolete Toxoplasma pneumonia A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales. http://purl.obolibrary.org/obo/DOID_0050478 obsolete primary Escherichia coli infectious disease http://purl.obolibrary.org/obo/DOID_3620 central nervous system cancer http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A nervous system cancer that is located_in the central nervous system. http://purl.obolibrary.org/obo/DOID_0070770 peri-implantitis http://purl.obolibrary.org/obo/DOID_0070768 peri-implant disease A peri-implant disease characterized by inflammation in the peri-implant mucosa and progressive loss of supporting bone. http://purl.obolibrary.org/obo/DOID_13343 obsolete ocular toxoplasmosis A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness. http://purl.obolibrary.org/obo/DOID_0050479 obsolete commensal Klebsiella infectious disease http://purl.obolibrary.org/obo/DOID_0050482 obsolete lymphangitis-associated rickettsiosis http://purl.obolibrary.org/obo/DOID_3627 aortic aneurysm http://purl.obolibrary.org/obo/DOID_520 aortic disease An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. http://purl.obolibrary.org/obo/DOID_0070771 gingival fibromatosis 1 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_1335 obsolete bluetongue A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue. http://purl.obolibrary.org/obo/DOID_0050483 obsolete Rickettsia aeschlimannii spotted fever http://purl.obolibrary.org/obo/DOID_0050492 obsolete tertiary syphilitic encephalitis http://purl.obolibrary.org/obo/DOID_363 uterine cancer http://purl.obolibrary.org/obo/DOID_345 uterine disease A female reproductive organ cancer that is located_in the uterus. http://purl.obolibrary.org/obo/DOID_0070772 gingival fibromatosis 2 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in variation in a region on chromosome 5q13-q22. http://purl.obolibrary.org/obo/DOID_1336 obsolete Nairobi sheep disease A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration. http://purl.obolibrary.org/obo/DOID_0050493 obsolete tertiary syphilitic meningitis http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is located_in the bladder. http://purl.obolibrary.org/obo/DOID_0070773 gingival fibromatosis 3 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis characterized by gingival overgrowth in early childhood at the time of tooth eruption that has_material_basis_in variation in a region on chromosome 2p23.3-p22.3. http://purl.obolibrary.org/obo/DOID_13459 obsolete secondary syphilitic hepatitis A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions. http://purl.obolibrary.org/obo/DOID_0050507 obsolete AIDS-related cryptosporidiosis http://purl.obolibrary.org/obo/DOID_3650 lactic acidosis http://purl.obolibrary.org/obo/DOID_0050758 metabolic acidosis A metabolic acidosis characterized by buildup of lactate. http://purl.obolibrary.org/obo/DOID_0070774 gingival fibromatosis 4 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in variation in a region on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_13470 obsolete primary anal syphilis A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum. http://purl.obolibrary.org/obo/DOID_13526 obsolete candidal endocarditis A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly. http://purl.obolibrary.org/obo/DOID_13527 obsolete candidal otitis externa A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis. http://purl.obolibrary.org/obo/DOID_0050509 obsolete AIDS-related toxoplasmosis http://purl.obolibrary.org/obo/DOID_368 cerebrum cancer http://purl.obolibrary.org/obo/DOID_1659 supratentorial cancer A supratentorial cancer that is located_in the cerebrum. http://purl.obolibrary.org/obo/DOID_0070775 gingival fibromatosis 6 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in heterozygous mutation in the ZNF862 gene on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_3690 brachial plexus neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves. http://purl.obolibrary.org/obo/DOID_0050510 obsolete AIDS-related cystoisosporiasis http://purl.obolibrary.org/obo/DOID_13528 obsolete candidal enteritis A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration. http://purl.obolibrary.org/obo/DOID_0070776 impaired intellectual development and distinctive facial features with or without cardiac defects http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by mild-to-profound developmental delay, intellectual disability, speech delay, hypotonia, variable congenital heart defects, and distinctive dysmorphic facial features including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia that has_material_basis_in heterozygous mutation in the MED13L gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_3697 acute transudative otitis media http://purl.obolibrary.org/obo/DOID_11180 non-suppurative otitis media A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/DOID_16 integumentary system disease An integumentary system disease that is located_in skin. http://purl.obolibrary.org/obo/DOID_0050525 obsolete acroosteolysis http://purl.obolibrary.org/obo/DOID_13601 obsolete enteropathogenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea. http://purl.obolibrary.org/obo/DOID_0050527 obsolete familial hypertriglyceridemia http://purl.obolibrary.org/obo/DOID_0070777 syndromic X-linked intellectual developmental disorder, Snijders Blok type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioral problems that has_material_basis_in heterozygous or hemizygous mutation in the DDX3X gene on Xp11. It occurs predominantly in females. http://purl.obolibrary.org/obo/DOID_3717 gastric adenocarcinoma http://purl.obolibrary.org/obo/DOID_299 adenocarcinoma A stomach carcinoma that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_13623 obsolete staphylococcal enterocolitis A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea. http://purl.obolibrary.org/obo/DOID_0050531 obsolete lentiginosis profusa http://purl.obolibrary.org/obo/DOID_0070778 hormone receptor-negative/HER2-positive breast cancer http://purl.obolibrary.org/obo/DOID_0070785 hormone receptor-negative breast cancer A HER2 positive breast cancer characterized by excess HER2 (ERBB2) protein and the absence of both the estrogen and progesterone receptors. http://purl.obolibrary.org/obo/DOID_0050532 obsolete epidermal nevus http://purl.obolibrary.org/obo/DOID_3753 Hermansky-Pudlak syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. http://purl.obolibrary.org/obo/DOID_13663 obsolete acute suppurative otitis media with tympanic membrane intact A purulent acute otitis media with no perforation of the tympanic membrane. http://purl.obolibrary.org/obo/DOID_0050533 obsolete soldiers heart http://purl.obolibrary.org/obo/DOID_0050550 obsolete Majewski syndrome http://purl.obolibrary.org/obo/DOID_0050551 obsolete Verma-Naumoff syndrome http://purl.obolibrary.org/obo/DOID_0070779 hormone receptor-positive/HER2-positive breast cancer http://purl.obolibrary.org/obo/DOID_0070784 hormone receptor-positive breast cancer A HER2 positive breast cancer characterized by excess HER2 (ERBB2) protein and at least one of the estrogen or progesterone receptors. http://purl.obolibrary.org/obo/DOID_0070780 hormone receptor-positive/HER2-negative breast cancer http://purl.obolibrary.org/obo/DOID_0070784 hormone receptor-positive breast cancer A HER2 negative breast cancer characterized by at least one of the estrogen or progesterone receptors and the absence of HER2 (EBBR2) protein. http://purl.obolibrary.org/obo/DOID_0070781 HER2-low breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by low levels of HER2 (EBBR2) protein. http://purl.obolibrary.org/obo/DOID_0070782 HER2-ultralow breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by very low, but detectable, levels of HER2 (EBBR2) protein. http://purl.obolibrary.org/obo/DOID_3770 pulmonary fibrosis http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes. http://purl.obolibrary.org/obo/DOID_13720 obsolete Schistosoma mattheei infectious disease A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei. http://purl.obolibrary.org/obo/DOID_0050583 obsolete Chlamydophila pneumoniae infectious disease http://purl.obolibrary.org/obo/SYMP_0000540 painful respiration http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a feeling of discomfort when breathing in or out. The pain may be the result of infection, musculoskeletal injury, and heart problems. http://purl.obolibrary.org/obo/DOID_3798 pleural empyema http://purl.obolibrary.org/obo/DOID_1532 pleural disease A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. http://purl.obolibrary.org/obo/DOID_13723 obsolete Schistosoma bovis infectious disease A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis. http://purl.obolibrary.org/obo/DOID_13734 obsolete AIDS-related Pneumocystis jirovecii pneumonia A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV. http://purl.obolibrary.org/obo/DOID_0050616 obsolete malignant Leydig cell tumor http://purl.obolibrary.org/obo/DOID_0050617 obsolete malignant Sertoli cell tumor http://purl.obolibrary.org/obo/SYMP_0000833 visceral pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by originating from organ tissues of the thorax, abdomen, or pelvis. It characterizes as deep, vague, and difficult to locate pain, that radiates away from the affected organ. http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080001 bone disease A bone disease that is located_in the joint. http://purl.obolibrary.org/obo/DOID_13753 obsolete Histoplasma duboisii meningitis An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. http://purl.obolibrary.org/obo/DOID_0050618 obsolete malignant Sertoli-Leydig cell tumor http://purl.obolibrary.org/obo/DOID_13754 obsolete Histoplasma capsulatum meningitis An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. http://purl.obolibrary.org/obo/SYMP_0000132 necrosis http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Necrosis is a general symptom where death of a portion of tissue differentially affected by local injury (as loss of blood supply, corrosion, burning, or the local lesion of a disease). http://purl.obolibrary.org/obo/DOID_3817 cranial nerve palsy http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve. http://purl.obolibrary.org/obo/DOID_0050643 obsolete anonychia congenita http://purl.obolibrary.org/obo/DOID_13755 obsolete Histoplasma duboisii pericarditis An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. http://purl.obolibrary.org/obo/DOID_13762 obsolete bovine trypanosomiasis A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss. http://purl.obolibrary.org/obo/SYMP_0000673 bradykinesia http://purl.obolibrary.org/obo/SYMP_0000858 hypokinesia Bradykinesia is a hypokinesia characterized by an extreme slowness in the execution of movements and reflexes. http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. http://purl.obolibrary.org/obo/DOID_0050652 obsolete soft tissue cancer http://purl.obolibrary.org/obo/DOID_13763 obsolete dourine A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs. http://purl.obolibrary.org/obo/SYMP_0000623 acute renal failure http://purl.obolibrary.org/obo/SYMP_0000731 renal failure A renal failure that is characterized by a severe and sudden onset of renal failure. http://purl.obolibrary.org/obo/DOID_3875 thrombophlebitis http://purl.obolibrary.org/obo/DOID_864 phlebitis A phlebitis that results from a blood clot in the vessel. http://purl.obolibrary.org/obo/DOID_0050653 obsolete dysplastic nevus http://purl.obolibrary.org/obo/DOID_13979 obsolete primary pulmonary coccidioidomycosis A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules. http://purl.obolibrary.org/obo/DOID_0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy. http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. http://purl.obolibrary.org/obo/DOID_0050707 obsolete nonsyndromic epilepsy http://purl.obolibrary.org/obo/DOID_13980 obsolete coccidioidal meningitis A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus. http://purl.obolibrary.org/obo/DOID_0070353 cataract 47 http://purl.obolibrary.org/obo/DOID_83 cataract A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. http://purl.obolibrary.org/obo/DOID_3904 bronchus carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A bronchus cancer that has_material_basis_in epithelial cells. http://purl.obolibrary.org/obo/DOID_0050756 obsolete CLN3 disease http://purl.obolibrary.org/obo/DOID_14311 obsolete Norovirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever. http://purl.obolibrary.org/obo/DOID_14326 obsolete avian malaria A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia. http://purl.obolibrary.org/obo/DOID_0070354 cataract 48 http://purl.obolibrary.org/obo/DOID_83 cataract A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. http://purl.obolibrary.org/obo/DOID_3905 lung carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. http://purl.obolibrary.org/obo/DOID_0050761 obsolete paramyloidosis http://purl.obolibrary.org/obo/DOID_14338 obsolete Pseudomonal pneumonia A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias. http://purl.obolibrary.org/obo/DOID_0070356 visual impairment and progressive phthisis bulbi http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. http://purl.obolibrary.org/obo/DOID_3930 otitis interna http://purl.obolibrary.org/obo/DOID_2952 inner ear disease An inner ear disease which involves inflammation of the inner ear. http://purl.obolibrary.org/obo/DOID_0050875 obsolete small cell neuroendocrine carcinoma of the lung http://purl.obolibrary.org/obo/DOID_14360 obsolete Opisthorchis viverrini infectious disease A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. http://purl.obolibrary.org/obo/DOID_0070357 nephrotic syndrome type 20 http://purl.obolibrary.org/obo/DOID_2590 familial nephrotic syndrome A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. http://purl.obolibrary.org/obo/DOID_3952 adrenal cortex disease http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An adrenal gland disease that is located_in the adrenal cortex. http://purl.obolibrary.org/obo/DOID_0050878 obsolete CLONE OF congenital afibrinogenemia http://purl.obolibrary.org/obo/DOID_14419 obsolete Mansonella ozzardi infectious disease A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease. http://purl.obolibrary.org/obo/DOID_14421 obsolete Brugia malayi filariasis A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection. http://purl.obolibrary.org/obo/DOID_14433 obsolete enterohemorrhagic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge. http://purl.obolibrary.org/obo/DOID_0080652 calcium oxalate nephrolithiasis http://purl.obolibrary.org/obo/DOID_585 nephrolithiasis A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A thyroid gland cancer that has_material_basis_in epithelial cells. http://purl.obolibrary.org/obo/DOID_0060069 obsolete Bacillus cereus pneumonia http://purl.obolibrary.org/obo/DOID_14434 obsolete enterotoxigenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever. http://purl.obolibrary.org/obo/DOID_0080653 urolithiasis http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract. http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. http://purl.obolibrary.org/obo/DOID_0060120 obsolete skeletal system benign neoplasm http://purl.obolibrary.org/obo/DOID_14473 obsolete adenovirus pneumonia An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells. http://purl.obolibrary.org/obo/DOID_0080654 uric acid urolithiasis http://purl.obolibrary.org/obo/DOID_0080653 urolithiasis An urolithiasis in which the composition of the stones is predominantly urate. http://purl.obolibrary.org/obo/DOID_3973 medullary thyroid carcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma that has_material_basis_in parafollicular cells. http://purl.obolibrary.org/obo/DOID_0060171 obsolete Dravet syndrome http://purl.obolibrary.org/obo/DOID_14474 obsolete respiratory syncytial virus pneumonia A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium. http://purl.obolibrary.org/obo/DOID_0080655 hypophosphatemic nephrolithiasis/osteoporosis http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by formation of renal calcium stones or bone demineralization. http://purl.obolibrary.org/obo/DOID_3978 extrinsic cardiomyopathy http://purl.obolibrary.org/obo/DOID_0050700 cardiomyopathy A cardiomyopathy that is characterized by the pathology occurring outside of the myocardium. http://purl.obolibrary.org/obo/DOID_0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum http://purl.obolibrary.org/obo/DOID_14475 obsolete parainfluenzal pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever. http://purl.obolibrary.org/obo/DOID_14476 obsolete SARS coronavirus pneumonia A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure. http://purl.obolibrary.org/obo/DOID_0080656 45,X/46,XY mixed gonadal dysgenesis http://purl.obolibrary.org/obo/DOID_14449 mixed gonadal dysgenesis A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. http://purl.obolibrary.org/obo/DOID_399 tuberculosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. http://purl.obolibrary.org/obo/DOID_0080013 obsolete mitochondrial disease http://purl.obolibrary.org/obo/DOID_14477 obsolete Cytomegalovirus pneumonia A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies. http://purl.obolibrary.org/obo/DOID_0111742 cerebellar ataxia type 42 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_3996 urinary system cancer http://purl.obolibrary.org/obo/DOID_18 urinary system disease An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. http://purl.obolibrary.org/obo/DOID_4001 ovarian carcinoma http://purl.obolibrary.org/obo/DOID_2151 malignant ovarian surface epithelial-stromal neoplasm An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary. http://purl.obolibrary.org/obo/DOID_403 mouth disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is located_in the mouth. http://purl.obolibrary.org/obo/DOID_404 gastrointestinal tuberculosis http://purl.obolibrary.org/obo/DOID_0050599 abdominal tuberculosis An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting. http://purl.obolibrary.org/obo/DOID_4045 muscle cancer http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A musculoskeletal system cancer that is located_in muscle. http://purl.obolibrary.org/obo/DOID_4079 heart valve disease http://purl.obolibrary.org/obo/DOID_114 heart disease A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). http://purl.obolibrary.org/obo/DOID_0080017 obsolete olivopontocerebellar atrophy V http://purl.obolibrary.org/obo/DOID_14520 obsolete adenovirus gastroenteritis An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever. http://purl.obolibrary.org/obo/DOID_0111743 cerebellar ataxia type 47 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. http://purl.obolibrary.org/obo/DOID_4090 agnosia http://purl.obolibrary.org/obo/DOID_2033 communication disorder A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. http://purl.obolibrary.org/obo/DOID_0080022 obsolete McKusick type metaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_1492 obsolete eye and adnexa disease A sensory system disease that is located_in the eye or the adnexa of the eye. http://purl.obolibrary.org/obo/DOID_0111744 cerebellar ataxia type 41 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. http://purl.obolibrary.org/obo/DOID_4109 tick infestation http://purl.obolibrary.org/obo/DOID_4110 parasitic ectoparasitic infectious disease A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. http://purl.obolibrary.org/obo/DOID_0080023 obsolete Shwachman-Diamond type metaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_153 obsolete fibroepithelial neoplasm A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue. http://purl.obolibrary.org/obo/DOID_0111745 cerebellar ataxia type 43 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. http://purl.obolibrary.org/obo/DOID_4110 parasitic ectoparasitic infectious disease http://purl.obolibrary.org/obo/DOID_1398 parasitic infectious disease A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. http://purl.obolibrary.org/obo/DOID_0080024 obsolete Pyles dysplasia http://purl.obolibrary.org/obo/DOID_157 obsolete epithelial carcinoma A carcinoma that derives_from the cells that line an organ. http://purl.obolibrary.org/obo/DOID_0111746 cerebellar ataxia type 48 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_4123 nail disease http://purl.obolibrary.org/obo/DOID_16 integumentary system disease An integumentary system disease that is located_in nail. http://purl.obolibrary.org/obo/DOID_0080048 obsolete trichorhinophalangeal syndrome I http://purl.obolibrary.org/obo/DOID_1665 obsolete central nervous system embryonal cancer An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord. http://purl.obolibrary.org/obo/DOID_0111747 cerebellar ataxia type 9 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. http://purl.obolibrary.org/obo/DOID_4137 common bile duct disease http://purl.obolibrary.org/obo/DOID_4138 bile duct disease A bile duct disease that is located_in the common bile duct. http://purl.obolibrary.org/obo/DOID_0080088 obsolete nonsyndromic congenital nail disorder 10 http://purl.obolibrary.org/obo/DOID_1730 obsolete histoplasmosis pneumonia A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. http://purl.obolibrary.org/obo/DOID_0111748 mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. http://purl.obolibrary.org/obo/DOID_4138 bile duct disease http://purl.obolibrary.org/obo/DOID_9741 biliary tract disease A biliary tract disease located_in one or more bile ducts. http://purl.obolibrary.org/obo/DOID_0110172 obsolete Charcot-Marie-Tooth disease axonal type 2G http://purl.obolibrary.org/obo/DOID_1734 obsolete viral gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting. http://purl.obolibrary.org/obo/DOID_0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. http://purl.obolibrary.org/obo/DOID_4153 spinal chordoma http://purl.obolibrary.org/obo/DOID_3302 chordoma A chordoma that derives_from the spine. http://purl.obolibrary.org/obo/DOID_0110286 obsolete autosomal recessive limb-girdle muscular dystrophy type 2R http://purl.obolibrary.org/obo/DOID_338 obsolete cranial nerve neoplasm A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. http://purl.obolibrary.org/obo/DOID_0111750 adult-onset ataxia and polyneuropathy http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. http://purl.obolibrary.org/obo/DOID_4159 skin cancer http://purl.obolibrary.org/obo/DOID_37 skin disease An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. http://purl.obolibrary.org/obo/DOID_0110300 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A http://purl.obolibrary.org/obo/DOID_4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/DOID_0111751 mitochondrial nonsyndromic sensorineural deafness http://purl.obolibrary.org/obo/DOID_10003 sensorineural hearing loss A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. http://purl.obolibrary.org/obo/DOID_417 autoimmune disease http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. http://purl.obolibrary.org/obo/DOID_0110301 obsolete autosomal dominant limb-girdle muscular dystrophy type 1B http://purl.obolibrary.org/obo/HP_0003674 onset The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/DOID_0111752 autosomal-mitochondrial sensorineural deafness http://purl.obolibrary.org/obo/DOID_10003 sensorineural hearing loss A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. http://purl.obolibrary.org/obo/DOID_418 systemic scleroderma http://purl.obolibrary.org/obo/DOID_419 scleroderma A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. http://purl.obolibrary.org/obo/DOID_4184 pseudohypoparathyroidism http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face. http://purl.obolibrary.org/obo/DOID_0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C http://purl.obolibrary.org/obo/DOID_0111372 obsolete autosomal dominant endosteal hyperostosis An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0111753 infantile hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/DOID_11984 hypertrophic cardiomyopathy A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. http://purl.obolibrary.org/obo/DOID_4186 articulation disorder http://purl.obolibrary.org/obo/DOID_92 speech disorder A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. http://purl.obolibrary.org/obo/DOID_0110325 obsolete hypertrophic cardiomyopathy 19 http://purl.obolibrary.org/obo/DOID_0051079 obsolete monogenic chronic kidney disease A chronic kidney disease that has_material_basis_in a mutation in a single gene. http://purl.obolibrary.org/obo/DOID_0111754 Leber plus disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. http://purl.obolibrary.org/obo/DOID_0111755 Leber hereditary optic neuropathy and dystonia http://purl.obolibrary.org/obo/DOID_0111754 Leber plus disease A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range. http://purl.obolibrary.org/obo/DOID_0110466 obsolete autosomal recessive nonsyndromic deafness 105 http://purl.obolibrary.org/obo/SYMP_0000462 symptom A symptom is a perceived change in function, sensation, loss, disturbance or appearance reported by a patient indicative of a disease. http://purl.obolibrary.org/obo/DOID_0111756 Leber hereditary optic neuropathy with demyelinating disease of CNS http://purl.obolibrary.org/obo/DOID_0111754 Leber plus disease A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system. http://purl.obolibrary.org/obo/DOID_420 hypertrichosis http://purl.obolibrary.org/obo/DOID_421 hair disease A hair disease characterized by hair growth that is abnormal in quantity or location. http://purl.obolibrary.org/obo/DOID_0110748 obsolete type 1 diabetes mellitus 9 http://purl.obolibrary.org/obo/TRANS_0000000 transmission process A process that is the means during which the pathogen is transmitted directly or indirectly from its natural reservoir, a susceptible host or source to a new host. http://purl.obolibrary.org/obo/DOID_0111757 Y-linked deafness http://purl.obolibrary.org/obo/DOID_0050738 Y-linked monogenic disease A nonsyndromic deafness characterized by a Y-lnked inheritance mode. http://purl.obolibrary.org/obo/DOID_4223 pyoderma http://purl.obolibrary.org/obo/DOID_2723 dermatitis A dermatitis that is characterized by a pyogenic infection causing the formation of pus. http://purl.obolibrary.org/obo/DOID_0110762 obsolete hereditary spastic paraplegia 1 http://purl.obolibrary.org/obo/DOID_0111201 obsolete distal hereditary motor neuronopathy type 7A A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. http://purl.obolibrary.org/obo/DOID_0111758 Y-linked deafness 2 http://purl.obolibrary.org/obo/DOID_0111757 Y-linked deafness A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. http://purl.obolibrary.org/obo/DOID_423 myopathy http://purl.obolibrary.org/obo/DOID_66 muscle tissue disease A muscular disease in which the muscle fibers do not function resulting in muscular weakness. http://purl.obolibrary.org/obo/DOID_10000 obsolete visual cortex disorder due to neoplasm http://purl.obolibrary.org/obo/DOID_0111204 obsolete distal hereditary motor neuronopathy type 5A A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3. http://purl.obolibrary.org/obo/DOID_0111759 Y-linked deafness 1 http://purl.obolibrary.org/obo/DOID_0111757 Y-linked deafness A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids. http://purl.obolibrary.org/obo/DOID_1001 obsolete labor complications http://purl.obolibrary.org/obo/DOID_0111208 obsolete distal hereditary motor neuronopathy type 2A A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23. http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. http://purl.obolibrary.org/obo/DOID_4254 osteosclerosis http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease that results_in abnormal elevated bone density or mass. http://purl.obolibrary.org/obo/DOID_10012 obsolete metastatic malignant neoplasm to the thyroid http://purl.obolibrary.org/obo/DOID_0090121 obsolete apparent mineralocorticoid excess An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. http://purl.obolibrary.org/obo/DOID_0111761 46,XX sex reversal 1 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. http://purl.obolibrary.org/obo/DOID_4284 anal margin carcinoma http://purl.obolibrary.org/obo/DOID_4159 skin cancer An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). http://purl.obolibrary.org/obo/DOID_4330 non-Langerhans-cell histiocytosis http://purl.obolibrary.org/obo/DOID_3405 histiocytosis A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells. http://purl.obolibrary.org/obo/DOID_4337 tinea capitis http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. http://purl.obolibrary.org/obo/DOID_10013 obsolete polyglandular activity in multiple endocrine adenomatosis http://purl.obolibrary.org/obo/DOID_437 myasthenia gravis http://purl.obolibrary.org/obo/DOID_438 autoimmune disease of the nervous system An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. http://purl.obolibrary.org/obo/DOID_0070075 obsolete Kleefstra Syndrome An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_0111762 46,XX sex reversal 3 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_4376 milk allergy http://purl.obolibrary.org/obo/DOID_3044 food allergy A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. http://purl.obolibrary.org/obo/DOID_10015 obsolete polyglandular dysfunction http://purl.obolibrary.org/obo/DOID_0070076 obsolete Koolen-De Vries syndrome An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_0111763 46,XX sex reversal 2 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. http://purl.obolibrary.org/obo/DOID_4377 egg allergy http://purl.obolibrary.org/obo/DOID_3044 food allergy A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. http://purl.obolibrary.org/obo/DOID_10018 obsolete papilledema associated with increased intracranial pressure http://purl.obolibrary.org/obo/DOID_438 autoimmune disease of the nervous system http://purl.obolibrary.org/obo/DOID_863 nervous system disease An autoimmune disease affecting the nervous system. http://purl.obolibrary.org/obo/DOID_0070101 obsolete Noonan syndrome 1 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13. http://purl.obolibrary.org/obo/DOID_0111764 46,XX sex reversal 4 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_10038 obsolete old burn scar-related melanoma of skin http://purl.obolibrary.org/obo/DOID_439 neuromuscular junction disease http://purl.obolibrary.org/obo/DOID_440 neuromuscular disease A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. http://purl.obolibrary.org/obo/DOID_0070102 obsolete Noonan syndrome 2 A Noonan syndrome that has_material_basis_in an autosomal recessive mutation. http://purl.obolibrary.org/obo/DOID_0111765 X-linked cardiac valvular dysplasia http://purl.obolibrary.org/obo/DOID_4079 heart valve disease A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_10042 obsolete regressing skin melanoma http://purl.obolibrary.org/obo/DOID_440 neuromuscular disease http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy that affect the nerves that control the voluntary muscles. http://purl.obolibrary.org/obo/DOID_4448 macular degeneration http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. http://purl.obolibrary.org/obo/DOID_446 primary hyperaldosteronism http://purl.obolibrary.org/obo/DOID_3947 adrenal gland hyperfunction An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. http://purl.obolibrary.org/obo/DOID_0070103 obsolete Noonan syndrome 3 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1. http://purl.obolibrary.org/obo/DOID_0070104 obsolete Noonan syndrome 4 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1. http://purl.obolibrary.org/obo/DOID_0070105 obsolete Noonan syndrome 5 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2. http://purl.obolibrary.org/obo/DOID_0111766 X-linked VACTERL association http://purl.obolibrary.org/obo/DOID_14679 VACTERL association A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_10045 obsolete malignant giant pigmented nevus melanoma http://purl.obolibrary.org/obo/DOID_0070106 obsolete Noonan syndrome 6 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2. http://purl.obolibrary.org/obo/DOID_0070107 obsolete Noonan syndrome 7 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_450 myotonic disease http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy A muscular dystrophy that is characterized by progressive muscle wasting and weakness. http://purl.obolibrary.org/obo/DOID_0111767 X-linked thrombocytopenia with beta-thalassemia http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_10048 obsolete malignant junctional nevus melanoma http://purl.obolibrary.org/obo/DOID_0070108 obsolete Noonan syndrome 8 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by malformations of the face, oral cavity, and digits. http://purl.obolibrary.org/obo/DOID_0111768 X-linked properdin deficiency http://purl.obolibrary.org/obo/DOID_626 complement deficiency A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_10053 obsolete malignant skin blue nevus http://purl.obolibrary.org/obo/DOID_10059 obsolete Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_10111 obsolete Congenital or acquired abnormality of vagina, with delivery http://purl.obolibrary.org/obo/DOID_10120 obsolete eyelid degenerative disease http://purl.obolibrary.org/obo/DOID_10121 obsolete degenerative disorder of eyelid and periocular area http://purl.obolibrary.org/obo/DOID_0070109 obsolete Noonan syndrome 9 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3. http://purl.obolibrary.org/obo/DOID_4531 mucoepidermoid carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis http://purl.obolibrary.org/obo/DOID_421 hair disease A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. http://purl.obolibrary.org/obo/DOID_0111769 46,XY sex reversal 6 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/DOID_10141 obsolete asthenopia http://purl.obolibrary.org/obo/DOID_0070110 obsolete Noonan syndrome 10 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_4606 bile duct cancer http://purl.obolibrary.org/obo/DOID_4138 bile duct disease A biliary tract cancer that is located_in the bile duct. http://purl.obolibrary.org/obo/DOID_0111770 46,XY sex reversal 9 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1. http://purl.obolibrary.org/obo/DOID_10142 obsolete Chlamydia trachomatis peritonitis http://purl.obolibrary.org/obo/DOID_0081119 obsolete benign familial infantile seizures 6 A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm http://purl.obolibrary.org/obo/DOID_5295 intestinal disease A gastrointestinal system benign neoplasm that is located_in the intestine. http://purl.obolibrary.org/obo/DOID_0111771 46,XY sex reversal 4 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. http://purl.obolibrary.org/obo/DOID_10144 obsolete secondary malignant neoplasm to the thymus http://purl.obolibrary.org/obo/DOID_0081376 obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_4644 epidermolysis bullosa simplex http://purl.obolibrary.org/obo/DOID_2730 epidermolysis bullosa An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. http://purl.obolibrary.org/obo/DOID_0111772 46,XY sex reversal 3 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_10145 obsolete metastases to mediastinum http://purl.obolibrary.org/obo/ECO_0000000 evidence A type of information that is used to support an assertion. http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/DOID_10124 corneal disease A corneal disease that is characterized by inflammation of the cornea. http://purl.obolibrary.org/obo/DOID_0111773 46,XY sex reversal 8 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. http://purl.obolibrary.org/obo/DOID_1016 obsolete primary tuberculosis http://purl.obolibrary.org/obo/DOID_0070190 obsolete autosomal dominant chronic granulomatous disease A chronic granulomatous disease characterized by autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_4691 malignant mediastinal neurogenic neoplasm http://purl.obolibrary.org/obo/DOID_5559 mediastinal cancer A mediastinal cancer that has_material_basis_in neural cells. http://purl.obolibrary.org/obo/DOID_0111774 46,XY sex reversal 7 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. http://purl.obolibrary.org/obo/DOID_4706 infratentorial cancer http://purl.obolibrary.org/obo/DOID_1319 brain cancer A brain cancer that is located_in the infratentorial region. http://purl.obolibrary.org/obo/DOID_10173 obsolete tuberculous myelitis http://purl.obolibrary.org/obo/DOID_0070312 obsolete Peters-Plus Syndrome A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability. http://purl.obolibrary.org/obo/DOID_0111292 obsolete idiopathic generalized epilepsy 10 An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_0111775 46,XY sex reversal 10 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. http://purl.obolibrary.org/obo/DOID_4737 somatoform disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. http://purl.obolibrary.org/obo/DOID_10182 obsolete diabetic peripheral angiopathy http://purl.obolibrary.org/obo/DOID_0111312 obsolete idiopathic generalized epilepsy 11 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1. http://purl.obolibrary.org/obo/DOID_0111776 46,XY sex reversal 5 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_15 reproductive system disease A reproductive system disease that affects male reproductive organs. http://purl.obolibrary.org/obo/DOID_10191 obsolete autosomal deletion syndrome http://purl.obolibrary.org/obo/DOID_0111313 obsolete idiopathic generalized epilepsy 12 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2. http://purl.obolibrary.org/obo/DOID_0111777 46,XY sex reversal 2 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. http://purl.obolibrary.org/obo/DOID_480 movement disease http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity. http://purl.obolibrary.org/obo/DOID_10202 obsolete lipoma of intrathoracic organ http://purl.obolibrary.org/obo/DOID_0111314 obsolete idiopathic generalized epilepsy 13 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. http://purl.obolibrary.org/obo/DOID_0111778 46,XY sex reversal 1 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. http://purl.obolibrary.org/obo/DOID_4866 salivary gland adenoid cystic carcinoma http://purl.obolibrary.org/obo/DOID_0050904 salivary gland carcinoma A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. http://purl.obolibrary.org/obo/DOID_10204 obsolete lipoma of intra-abdominal organ http://purl.obolibrary.org/obo/DOID_0111315 obsolete idiopathic generalized epilepsy 14 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12. http://purl.obolibrary.org/obo/DOID_0111316 obsolete idiopathic generalized epilepsy 15 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13. http://purl.obolibrary.org/obo/DOID_0111779 X-linked panhypopituitarism http://purl.obolibrary.org/obo/DOID_0050735 X-linked monogenic disease A combined pituitary hormone deficiency that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. http://purl.obolibrary.org/obo/DOID_4876 trachea carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A tracheal cancer that effects the airway that leads from the larynx to the bronchi. http://purl.obolibrary.org/obo/DOID_10210 obsolete calculus of gallbladder and bile duct without cholecystitis http://purl.obolibrary.org/obo/DOID_0111317 obsolete idiopathic generalized epilepsy 2 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0111780 TARP syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0111781 Waisman syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_4906 small intestine adenocarcinoma http://purl.obolibrary.org/obo/DOID_299 adenocarcinoma A small intestine carcinoma that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_10220 obsolete failed induction http://purl.obolibrary.org/obo/DOID_0111318 obsolete idiopathic generalized epilepsy 3 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33. http://purl.obolibrary.org/obo/DOID_4939 ureter carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma An ureter cancer that is located_in the ureter. http://purl.obolibrary.org/obo/DOID_0111783 otopalatodigital syndrome type 1 http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_4953 poliomyelitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in destruction located in motor neurons and has_material_basis_in Human poliovirus 1, 2, or 3, serotypes of Enterovirus coxsackiepol, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis. http://purl.obolibrary.org/obo/DOID_10222 obsolete polymyositis http://purl.obolibrary.org/obo/DOID_10226 obsolete single episode manic disorder http://purl.obolibrary.org/obo/DOID_10229 obsolete partial epilepsy, with impairment of consciousness, with intractable epilepsy http://purl.obolibrary.org/obo/DOID_10238 obsolete malignant neoplasm of rectum, rectosigmoid junction and anus http://purl.obolibrary.org/obo/DOID_10239 obsolete malignant neoplasm of pelvic bones, sacrum and coccyx http://purl.obolibrary.org/obo/DOID_0111319 obsolete idiopathic generalized epilepsy 4 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26. http://purl.obolibrary.org/obo/DOID_4959 epidermolysis bullosa dystrophica http://purl.obolibrary.org/obo/DOID_2730 epidermolysis bullosa An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. http://purl.obolibrary.org/obo/DOID_0111784 otopalatodigital syndrome type 2 http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_10240 obsolete malignant neoplasm of pelvis http://purl.obolibrary.org/obo/DOID_0111320 obsolete idiopathic generalized epilepsy 5 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22. http://purl.obolibrary.org/obo/DOID_4960 bone marrow cancer http://purl.obolibrary.org/obo/DOID_2531 hematologic cancer A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. http://purl.obolibrary.org/obo/DOID_0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. http://purl.obolibrary.org/obo/DOID_10245 obsolete delayed separation of umbilical cord http://purl.obolibrary.org/obo/DOID_0111321 obsolete idiopathic generalized epilepsy 7 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_4972 myelodysplastic/myeloproliferative neoplasm http://purl.obolibrary.org/obo/DOID_0070004 myeloid neoplasm A myeloid neoplasm that results_in the overproduction of white blood cells. http://purl.obolibrary.org/obo/DOID_0111786 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/DOID_0111785 frontometaphyseal dysplasia A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_10255 obsolete conjunctival degenerations and deposits http://purl.obolibrary.org/obo/DOID_0111322 obsolete idiopathic generalized epilepsy 8 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. http://purl.obolibrary.org/obo/DOID_4976 elephantiasis http://purl.obolibrary.org/obo/DOID_4977 lymphedema A lymphedema that is characterised by edema, hypertrophy, and fibrosis of skin and subcutaneous tissues, due to obstruction of lymphatic vessels resulting in the enlargement and hardening of limbs or body parts due to tissue swelling (edema). http://purl.obolibrary.org/obo/DOID_0111787 frontometaphyseal dysplasia 2 http://purl.obolibrary.org/obo/DOID_0111785 frontometaphyseal dysplasia A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_10256 obsolete vitamin A deficiency with conjunctival xerosis http://purl.obolibrary.org/obo/DOID_0111323 obsolete idiopathic generalized epilepsy 9 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. http://purl.obolibrary.org/obo/DOID_0080701 obsolete prothrombin thrombophilia A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0060963 obsolete dystonia, DOPA-responsive A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_4977 lymphedema http://purl.obolibrary.org/obo/DOID_75 lymphatic system disease A lymphatic system disease that is characterized by the abnormal accumulation of lymph fluid in the body's tissues, leading to swelling. http://purl.obolibrary.org/obo/DOID_0111788 Melnick-Needles syndrome http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_10257 obsolete vitamin A deficiency http://purl.obolibrary.org/obo/DOID_0080191 obsolete PTEN hamartoma tumor syndrome A syndrome comprised of a spectrum of related disorders characterized by the formation of hamartomas, overgrowth, and predisposition to cancer that has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease that is located_in the thyroid. http://purl.obolibrary.org/obo/DOID_0111789 Frank-Ter Haar syndrome http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. http://purl.obolibrary.org/obo/DOID_10265 obsolete hairy cell leukemia of spleen http://purl.obolibrary.org/obo/DOID_0110952 obsolete Waardenburg syndrome type 2D A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11. http://purl.obolibrary.org/obo/DOID_5032 pineal gland cancer http://purl.obolibrary.org/obo/DOID_170 endocrine gland cancer An endocrine gland located_in the pineal gland located in the brain. http://purl.obolibrary.org/obo/DOID_070355 multisystem proteinopathy http://purl.obolibrary.org/obo/DOID_231 motor neuron disease A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. http://purl.obolibrary.org/obo/DOID_10274 obsolete schizo-affective type schizophrenia in remission http://purl.obolibrary.org/obo/DOID_0111794 obsolete congenital nystagmus 4 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33. http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer http://purl.obolibrary.org/obo/DOID_6050 esophageal disease A gastrointestinal system cancer that is located_in the esophagus. http://purl.obolibrary.org/obo/DOID_0080690 RASopathy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. http://purl.obolibrary.org/obo/DOID_10278 obsolete Vasa previa complicating labor and delivery http://purl.obolibrary.org/obo/DOID_0111810 obsolete syndromic microphthalmia 4 A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28. http://purl.obolibrary.org/obo/DOID_5093 thoracic cancer http://purl.obolibrary.org/obo/DOID_0060118 thoracic disease An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. http://purl.obolibrary.org/obo/DOID_0111866 trichothiodystrophy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. http://purl.obolibrary.org/obo/DOID_10279 obsolete Vasa previa http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver Environmental or genetic mechanisms driving the occurrance of complex diseases. http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease http://purl.obolibrary.org/obo/DOID_374 nutrition disease A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. http://purl.obolibrary.org/obo/DOID_0080779 plasmablastic lymphoma http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. http://purl.obolibrary.org/obo/DOID_10280 obsolete Vasa previa complicating labor and delivery, delivered http://purl.obolibrary.org/obo/DOID_0081164 obsolete dilated cardiomyopathy 3B A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21. http://purl.obolibrary.org/obo/DOID_5119 ovarian cyst http://purl.obolibrary.org/obo/DOID_1100 ovarian disease An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary. http://purl.obolibrary.org/obo/DOID_0080780 acute erythroid leukemia http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia that is characterized by a predominant immature erythroid population. http://purl.obolibrary.org/obo/DOID_0112014 congenital megabladder http://purl.obolibrary.org/obo/DOID_365 bladder disease A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. http://purl.obolibrary.org/obo/DOID_0112015 immunodeficiency 72 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. http://purl.obolibrary.org/obo/DOID_10288 obsolete metastasis to prostate http://purl.obolibrary.org/obo/DOID_10294 obsolete intermittent monocular esotropia http://purl.obolibrary.org/obo/DOID_10295 obsolete monocular esotropia with A pattern http://purl.obolibrary.org/obo/DOID_0061095 obsolete immunodeficiency 130 A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_5127 bizarre leiomyoma http://purl.obolibrary.org/obo/DOID_127 leiomyoma A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures. http://purl.obolibrary.org/obo/DOID_5143 large bowel leiomyoma http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel. http://purl.obolibrary.org/obo/DOID_0112016 non-syndromic X-linked intellectual disability 2 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. http://purl.obolibrary.org/obo/DOID_10296 obsolete monocular esotropia with V pattern http://purl.obolibrary.org/obo/DOID_0111612 obsolete autosomal recessive spinocerebellar ataxia 3 An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. http://purl.obolibrary.org/obo/DOID_5158 pleural cancer http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that located_in the pleura. http://purl.obolibrary.org/obo/DOID_0112017 non-syndromic X-linked intellectual disability 73 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_10332 obsolete disorder of optic chiasm due to vascular disorder http://purl.obolibrary.org/obo/DOID_0080713 obsolete MECP2 duplication syndrome A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking. http://purl.obolibrary.org/obo/DOID_10437 obsolete metastasis to lymph node http://purl.obolibrary.org/obo/DOID_520 aortic disease http://purl.obolibrary.org/obo/DOID_0050828 artery disease An artery disease that is characterized by degeneration of the cells composing the aortic wall. http://purl.obolibrary.org/obo/DOID_0112018 non-syndromic X-linked intellectual disability 104 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_10334 obsolete craniofacial abnormality http://purl.obolibrary.org/obo/DOID_1044 obsolete nontraumatic rupture of muscle http://purl.obolibrary.org/obo/DOID_5212 congenital disorder of glycosylation http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. http://purl.obolibrary.org/obo/DOID_0112019 non-syndromic X-linked intellectual disability 19 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/DOID_10338 obsolete subchronic schizophrenia http://purl.obolibrary.org/obo/DOID_10447 obsolete thyroid dysfunction complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_525 central nervous system vasculitis http://purl.obolibrary.org/obo/DOID_865 vasculitis A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine. http://purl.obolibrary.org/obo/DOID_0112020 non-syndromic X-linked intellectual disability 103 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. http://purl.obolibrary.org/obo/DOID_10339 obsolete schizophrenia simplex http://purl.obolibrary.org/obo/DOID_1045 obsolete fascia disease http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is located_in the intestine. http://purl.obolibrary.org/obo/DOID_53 pituitary gland disease http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease that is located_in the pituitary gland. http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/DOID_37 skin disease An adnexa disease that is located_in the eyelid. http://purl.obolibrary.org/obo/DOID_5330 dental pulp disease http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A tooth disease located_in dental pulp. http://purl.obolibrary.org/obo/DOID_535 sleep disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that involves disruption of sleep patterns. http://purl.obolibrary.org/obo/DOID_5353 colonic disease http://purl.obolibrary.org/obo/DOID_5295 intestinal disease A intestinal disease located in the colon. http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object. http://purl.obolibrary.org/obo/DOID_5409 lung small cell carcinoma http://purl.obolibrary.org/obo/DOID_3905 lung carcinoma A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung. http://purl.obolibrary.org/obo/DOID_0112021 non-syndromic X-linked intellectual disability ARX-related http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. http://purl.obolibrary.org/obo/DOID_10340 obsolete residual subchronic schizophrenia http://purl.obolibrary.org/obo/DOID_10469 obsolete diabetes mellitus juvenile type, uncontrolled, with neurological manifestations http://purl.obolibrary.org/obo/DOID_5419 schizophrenia http://purl.obolibrary.org/obo/DOID_2468 psychotic disorder A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. http://purl.obolibrary.org/obo/DOID_0112022 non-syndromic X-linked intellectual disability 21 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. http://purl.obolibrary.org/obo/DOID_10342 obsolete subchronic latent schizophrenia http://purl.obolibrary.org/obo/DOID_1047 obsolete Mental disorder complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_5421 lung combined type small cell carcinoma http://purl.obolibrary.org/obo/DOID_5409 lung small cell carcinoma A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. http://purl.obolibrary.org/obo/DOID_0112023 non-syndromic X-linked intellectual disability 20 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. http://purl.obolibrary.org/obo/DOID_0112024 non-syndromic X-linked intellectual disability 58 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_10343 obsolete latent schizophrenia http://purl.obolibrary.org/obo/DOID_10351 obsolete mammary duct ectasia http://purl.obolibrary.org/obo/DOID_10473 obsolete wrist or carpus enthesopathy http://purl.obolibrary.org/obo/DOID_543 dystonia http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. http://purl.obolibrary.org/obo/DOID_0112025 female-restricted syndromic X-linked intellectual disability 99 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_10367 obsolete metastatic tumor to the epididymis http://purl.obolibrary.org/obo/DOID_10483 obsolete hypertonic, incoordinate, or prolonged uterine contractions http://purl.obolibrary.org/obo/DOID_5502 lice infestation http://purl.obolibrary.org/obo/DOID_4110 parasitic ectoparasitic infectious disease A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. http://purl.obolibrary.org/obo/DOID_0112026 non-syndromic X-linked intellectual disability 99 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_1038 obsolete mature T-cell neoplasm http://purl.obolibrary.org/obo/DOID_10489 obsolete transient disorder of initiating or maintaining wakefulness http://purl.obolibrary.org/obo/DOID_552 pneumonia http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. http://purl.obolibrary.org/obo/DOID_0112027 non-syndromic X-linked intellectual disability 14 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. http://purl.obolibrary.org/obo/DOID_10380 obsolete precipitate labor http://purl.obolibrary.org/obo/DOID_10494 obsolete pulmonary valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is located_in the kidney. http://purl.obolibrary.org/obo/DOID_0112028 non-syndromic X-linked intellectual disability 45 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. http://purl.obolibrary.org/obo/DOID_10381 obsolete staphylococcal meningitis http://purl.obolibrary.org/obo/DOID_10501 obsolete menopausal and postmenopausal disorder http://purl.obolibrary.org/obo/DOID_5604 adult acute lymphocytic leukemia http://purl.obolibrary.org/obo/DOID_9952 acute lymphoblastic leukemia An acute lymphocytic leukemia occurring during adulthood. http://purl.obolibrary.org/obo/DOID_0112029 non-syndromic X-linked intellectual disability 50 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. http://purl.obolibrary.org/obo/DOID_10384 obsolete papilledema associated with decreased ocular pressure http://purl.obolibrary.org/obo/DOID_10505 obsolete generalized nonconvulsive epilepsy disease http://purl.obolibrary.org/obo/DOID_5612 spinal cancer http://purl.obolibrary.org/obo/DOID_3620 central nervous system cancer A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). http://purl.obolibrary.org/obo/DOID_0112030 non-syndromic X-linked intellectual disability 84 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. http://purl.obolibrary.org/obo/DOID_1042 obsolete Generalized infection during labor http://purl.obolibrary.org/obo/DOID_10521 obsolete pinna disease http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_0050155 sensory system disease An eye and adnexa disease that is located_in the eye. http://purl.obolibrary.org/obo/DOID_0112031 non-syndromic X-linked intellectual disability 89 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_10528 obsolete Haemophilus influenzae infectious disease http://purl.obolibrary.org/obo/DOID_10435 purulent acute otitis media http://purl.obolibrary.org/obo/DOID_11506 suppurative otitis media A suppurative otitis media with sudden onset and a short course. http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy that is located_in one of the twelve cranial nerves. http://purl.obolibrary.org/obo/DOID_0112032 non-syndromic X-linked intellectual disability 92 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_10529 obsolete primary Haemophilus infectious disease http://purl.obolibrary.org/obo/DOID_10439 Mooren's ulcer http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema. http://purl.obolibrary.org/obo/DOID_10440 mycotic corneal ulcer http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus. http://purl.obolibrary.org/obo/DOID_5672 large intestine cancer http://purl.obolibrary.org/obo/DOID_10155 intestinal cancer An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. http://purl.obolibrary.org/obo/DOID_0112033 non-syndromic X-linked intellectual disability 81 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. http://purl.obolibrary.org/obo/DOID_1053 obsolete developmental dislocation of joint http://purl.obolibrary.org/obo/DOID_10441 marginal corneal ulcer http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus. http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that is located_in the retina. http://purl.obolibrary.org/obo/DOID_5719 adrenal medulla cancer http://purl.obolibrary.org/obo/DOID_3953 adrenal gland cancer An adrenal gland cancer that is located_in the adrenal medulla. http://purl.obolibrary.org/obo/DOID_0112034 non-syndromic X-linked intellectual disability 9 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_10537 obsolete recurrent malignant gastric neoplasm http://purl.obolibrary.org/obo/DOID_10444 ring corneal ulcer http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea. http://purl.obolibrary.org/obo/DOID_0112035 non-syndromic X-linked intellectual disability 96 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_5723 optic atrophy http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. http://purl.obolibrary.org/obo/DOID_1054 obsolete glaucoma associated with chamber angle anomalies http://purl.obolibrary.org/obo/DOID_10445 perforated corneal ulcer http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment. http://purl.obolibrary.org/obo/DOID_5733 salpingitis http://purl.obolibrary.org/obo/DOID_1962 fallopian tube disease A fallopian tube disease that is characterized by inflammation of the fallopian tube. http://purl.obolibrary.org/obo/DOID_0112036 non-syndromic X-linked intellectual disability 105 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_10549 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease http://purl.obolibrary.org/obo/DOID_863 nervous system disease A nervous system disease that affects the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_10456 tonsillitis http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. http://purl.obolibrary.org/obo/DOID_0112037 chromosome Xp11.22 duplication syndrome http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. http://purl.obolibrary.org/obo/DOID_1055 obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes http://purl.obolibrary.org/obo/DOID_5772 central nervous system hematologic cancer http://purl.obolibrary.org/obo/DOID_3620 central nervous system cancer A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. http://purl.obolibrary.org/obo/DOID_10457 Legionnaires' disease http://purl.obolibrary.org/obo/DOID_10458 legionellosis A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. http://purl.obolibrary.org/obo/DOID_0112038 non-syndromic X-linked intellectual disability 1 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_10557 obsolete maternal distress http://purl.obolibrary.org/obo/DOID_583 hemolytic anemia http://purl.obolibrary.org/obo/DOID_720 normocytic anemia A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made. http://purl.obolibrary.org/obo/DOID_10458 legionellosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. http://purl.obolibrary.org/obo/DOID_10459 common cold http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. http://purl.obolibrary.org/obo/DOID_10460 nasopharyngitis http://purl.obolibrary.org/obo/DOID_9561 nasopharyngeal disease A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. http://purl.obolibrary.org/obo/DOID_10481 diaphragm disease http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A muscular disease that is located_in the diaphragm. http://purl.obolibrary.org/obo/DOID_10487 Hirschsprung's disease http://purl.obolibrary.org/obo/DOID_11372 megacolon A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. http://purl.obolibrary.org/obo/DOID_0112039 non-syndromic X-linked intellectual disability 77 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. http://purl.obolibrary.org/obo/DOID_10561 obsolete yaws hyperkeratosis http://purl.obolibrary.org/obo/DOID_5875 retroperitoneal cancer http://purl.obolibrary.org/obo/DOID_5093 thoracic cancer A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum. http://purl.obolibrary.org/obo/DOID_10507 Dressler's syndrome http://purl.obolibrary.org/obo/DOID_1787 pericarditis A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. http://purl.obolibrary.org/obo/DOID_0112040 non-syndromic X-linked intellectual disability 100 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0112041 non-syndromic X-linked intellectual disability 90 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_10569 obsolete myopathy of critical illness http://purl.obolibrary.org/obo/DOID_591 phobic disorder http://purl.obolibrary.org/obo/DOID_2030 anxiety disorder An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. http://purl.obolibrary.org/obo/DOID_10516 malignant otitis externa http://purl.obolibrary.org/obo/DOID_9463 otitis externa An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. http://purl.obolibrary.org/obo/DOID_1057 obsolete inborn amino acid transport disorder http://purl.obolibrary.org/obo/DOID_0112042 Tonne-Kalscheuer syndrome http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. http://purl.obolibrary.org/obo/DOID_599 specific phobia http://purl.obolibrary.org/obo/DOID_591 phobic disorder A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. http://purl.obolibrary.org/obo/DOID_10518 beach ear http://purl.obolibrary.org/obo/DOID_9463 otitis externa An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. http://purl.obolibrary.org/obo/DOID_10574 obsolete vitamin D deficiency http://purl.obolibrary.org/obo/DOID_5997 non-proliferative fibrocystic change of the breast http://purl.obolibrary.org/obo/DOID_10354 breast fibrocystic disease A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia. http://purl.obolibrary.org/obo/DOID_0112043 non-syndromic X-linked intellectual disability 91 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. http://purl.obolibrary.org/obo/DOID_10519 chronic fungal otitis externa http://purl.obolibrary.org/obo/DOID_1564 fungal infectious disease A otomycosis which is persistent and long-lasting or recurrent. http://purl.obolibrary.org/obo/DOID_10520 acute infection of pinna http://purl.obolibrary.org/obo/DOID_9463 otitis externa An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. http://purl.obolibrary.org/obo/DOID_1058 obsolete amino acid transport disease http://purl.obolibrary.org/obo/DOID_6000 congestive heart failure http://purl.obolibrary.org/obo/DOID_114 heart disease A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. http://purl.obolibrary.org/obo/DOID_0112044 non-syndromic X-linked intellectual disability 98 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. http://purl.obolibrary.org/obo/DOID_0112045 non-syndromic X-linked intellectual disability 93 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0112046 non-syndromic X-linked intellectual disability 97 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_10525 double pterygium http://purl.obolibrary.org/obo/DOID_0002116 pterygium A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula. http://purl.obolibrary.org/obo/DOID_10526 conjunctival pterygium http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula. http://purl.obolibrary.org/obo/DOID_10585 obsolete hereditary and idiopathic peripheral neuropathy http://purl.obolibrary.org/obo/DOID_6025 selective immunoglobulin deficiency disease http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. http://purl.obolibrary.org/obo/DOID_10594 obsolete idiopathic neuropathy http://purl.obolibrary.org/obo/DOID_0112047 non-syndromic X-linked intellectual disability 53 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. http://purl.obolibrary.org/obo/DOID_10533 viral pneumonia http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is located_in the esophagus. http://purl.obolibrary.org/obo/DOID_0112048 non-syndromic X-linked intellectual disability 101 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. http://purl.obolibrary.org/obo/DOID_10597 obsolete gonococcal meningitis http://purl.obolibrary.org/obo/DOID_10534 stomach cancer http://purl.obolibrary.org/obo/DOID_76 stomach disease A gastrointestinal system cancer that is located_in the stomach. http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. http://purl.obolibrary.org/obo/DOID_10602 obsolete steatorrhea http://purl.obolibrary.org/obo/DOID_0112049 non-syndromic X-linked intellectual disability 23 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24. http://purl.obolibrary.org/obo/DOID_10538 gastric fundus cancer http://purl.obolibrary.org/obo/DOID_10534 stomach cancer A stomach cancer that is located_in the gastric fundus. http://purl.obolibrary.org/obo/DOID_615 leukopenia http://purl.obolibrary.org/obo/DOID_9500 leukocyte disease A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. http://purl.obolibrary.org/obo/DOID_1061 obsolete renal aminoaciduria http://purl.obolibrary.org/obo/DOID_0112050 non-syndromic X-linked intellectual disability 63 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. http://purl.obolibrary.org/obo/DOID_0112051 non-syndromic X-linked intellectual disability 30 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. http://purl.obolibrary.org/obo/DOID_0112052 non-syndromic X-linked intellectual disability 82 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25. http://purl.obolibrary.org/obo/DOID_10548 cardia cancer http://purl.obolibrary.org/obo/DOID_10534 stomach cancer A cancer located_in the gastric cardia. http://purl.obolibrary.org/obo/DOID_6195 conjunctivitis http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. http://purl.obolibrary.org/obo/DOID_10621 obsolete Fissure of nipple associated with childbirth http://purl.obolibrary.org/obo/DOID_0112053 non-syndromic X-linked intellectual disability 88 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_10550 acute eustachian salpingitis http://purl.obolibrary.org/obo/DOID_2000 otosalpingitis A otosalpingitis with a sudden onset and a short course. http://purl.obolibrary.org/obo/DOID_62 aortic valve disease http://purl.obolibrary.org/obo/DOID_520 aortic disease A heart valve disease that is located_in the aortic valve. http://purl.obolibrary.org/obo/DOID_10626 obsolete insulin dependent type diabetes mellitus uncontrolled with ketoacidosis http://purl.obolibrary.org/obo/DOID_0112054 non-syndromic X-linked intellectual disability 107 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_10554 meningoencephalitis http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that involves encephalitis which occurs along with meningitis. http://purl.obolibrary.org/obo/DOID_6227 articular cartilage disease http://purl.obolibrary.org/obo/DOID_1222 cartilage disease A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones. http://purl.obolibrary.org/obo/DOID_10630 obsolete optic atrophy associated with retinal dystrophy http://purl.obolibrary.org/obo/DOID_0112055 non-syndromic X-linked intellectual disability 46 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. http://purl.obolibrary.org/obo/DOID_10556 supine hypotensive syndrome http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. http://purl.obolibrary.org/obo/DOID_626 complement deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. http://purl.obolibrary.org/obo/DOID_10645 obsolete chronic state latent schizophrenia with acute exacerbation http://purl.obolibrary.org/obo/DOID_0112056 X-linked intellectual disability-short stature-overweight syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. http://purl.obolibrary.org/obo/DOID_1056 oculocerebrorenal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. http://purl.obolibrary.org/obo/DOID_10659 obsolete colonic ganglioneuroma http://purl.obolibrary.org/obo/DOID_0112057 non-syndromic X-linked intellectual disability 42 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_10567 late yaws http://purl.obolibrary.org/obo/DOID_10371 yaws A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. http://purl.obolibrary.org/obo/DOID_10689 obsolete galactorrhea not associated with childbirth http://purl.obolibrary.org/obo/DOID_0112058 non-syndromic X-linked intellectual disability 41 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_10568 early yaws http://purl.obolibrary.org/obo/DOID_10371 yaws A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. http://purl.obolibrary.org/obo/DOID_6293 central nervous system lipoma http://purl.obolibrary.org/obo/DOID_3315 lipoma A central nervous system benign neoplasm that derives_from fat cells. http://purl.obolibrary.org/obo/DOID_10708 obsolete passive-aggressive personality disorder http://purl.obolibrary.org/obo/DOID_0112059 non-syndromic X-linked intellectual disability 72 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_10573 osteomalacia http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. http://purl.obolibrary.org/obo/DOID_630 genetic disease http://purl.obolibrary.org/obo/DOID_4 disease A disease that has_material_basis_in genetic variations in the human genome. http://purl.obolibrary.org/obo/DOID_631 fibromyalgia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression. http://purl.obolibrary.org/obo/DOID_10717 obsolete meningococcal septicemia http://purl.obolibrary.org/obo/DOID_0112245 focal segmental glomerulosclerosis 3 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3. http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration A cerebral degeneration characterized by dysfunction of the white matter of the brain. http://purl.obolibrary.org/obo/DOID_633 myositis http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy characterized by muscle inflammation. http://purl.obolibrary.org/obo/DOID_10747 obsolete lymphoid leukemia http://purl.obolibrary.org/obo/DOID_0081028 glycogen-rich carcinoma http://purl.obolibrary.org/obo/DOID_3458 breast adenocarcinoma A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. http://purl.obolibrary.org/obo/DOID_10581 metachromatic leukodystrophy http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. http://purl.obolibrary.org/obo/DOID_10582 Refsum disease http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. http://purl.obolibrary.org/obo/DOID_6364 migraine http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. http://purl.obolibrary.org/obo/DOID_1075 obsolete chronic pyelonephritis with lesion of renal medullary necrosis http://purl.obolibrary.org/obo/SYMP_0020022 bone conduction hyperacusis http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom An ear symptom - need proper definition - placeholder for xref. http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. http://purl.obolibrary.org/obo/DOID_639 acute disseminated encephalomyelitis http://purl.obolibrary.org/obo/DOID_640 encephalomyelitis An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. http://purl.obolibrary.org/obo/DOID_10760 obsolete choroidal rupture http://purl.obolibrary.org/obo/SYMP_0020024 bronchospasm http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by constriction of the air passages of the lung (as in asthma) by spasmodic contraction of the bronchial muscles. http://purl.obolibrary.org/obo/DOID_10588 adrenoleukodystrophy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. http://purl.obolibrary.org/obo/DOID_6432 pulmonary hypertension http://purl.obolibrary.org/obo/DOID_10763 hypertension A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. http://purl.obolibrary.org/obo/DOID_646 viral encephalitis http://purl.obolibrary.org/obo/DOID_9588 encephalitis An encephalitis that involves inflammation of the brain caused by viral infection. http://purl.obolibrary.org/obo/DOID_10764 obsolete liver abscess and sequelae of chronic liver disease http://purl.obolibrary.org/obo/SYMP_0020025 caseation http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by necrosis of tissue with conversion of damaged tissue into a soft cheesy substance. http://purl.obolibrary.org/obo/DOID_1059 intellectual disability http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. http://purl.obolibrary.org/obo/DOID_10774 obsolete cutaneous plague http://purl.obolibrary.org/obo/DOID_6460 large intestine lipoma http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine. http://purl.obolibrary.org/obo/SYMP_0020027 wet cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a production and expectoration (bringing up) of mucus (phlegm) or sputum. http://purl.obolibrary.org/obo/DOID_10590 mild pre-eclampsia http://purl.obolibrary.org/obo/DOID_10591 pre-eclampsia A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. http://purl.obolibrary.org/obo/DOID_10591 pre-eclampsia http://purl.obolibrary.org/obo/DOID_10763 hypertension A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. http://purl.obolibrary.org/obo/DOID_10788 obsolete osteitis condensans http://purl.obolibrary.org/obo/DOID_649 prion disease http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. http://purl.obolibrary.org/obo/SYMP_0020029 concentration difficulty http://purl.obolibrary.org/obo/SYMP_0000482 alteration of consciousness An alteration of consciousness that is characterized by a decreased ability to focus one's thoughts on something. Concentration difficulties can be related to difficulty staying awake, impulsiveness, intrusive thoughts or concerns, overactivity, or inattention. They can be caused by medical, cognitive or psychological problems, or, may be related to sleep disorders, medications, alcohol, or drugs. http://purl.obolibrary.org/obo/DOID_10595 Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/DOID_440 neuromuscular disease A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. http://purl.obolibrary.org/obo/DOID_10795 obsolete congenital syphilitic encephalitis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease http://purl.obolibrary.org/obo/DOID_17 musculoskeletal system disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. http://purl.obolibrary.org/obo/SYMP_0020030 patches of hair loss with a black dot pattern http://purl.obolibrary.org/obo/SYMP_0000440 hair loss A hair symptom that is characterized by patchy hair loss and the presence of comedo-like cadaver hairs, which appear as black dots. http://purl.obolibrary.org/obo/DOID_106 pleural tuberculosis http://purl.obolibrary.org/obo/DOID_1532 pleural disease An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. http://purl.obolibrary.org/obo/DOID_10803 obsolete Haemophilus influenzae meningitis http://purl.obolibrary.org/obo/DOID_653 purine-pyrimidine metabolic disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. http://purl.obolibrary.org/obo/SYMP_0020031 chest discomfort http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by pain, pressure, tightness, or other discomfort originating in or radiating to the chest, which constitutes an important indicator of potentially serious cardiac or cardiovascular disorders. http://purl.obolibrary.org/obo/DOID_1060 Hartnup disease http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. http://purl.obolibrary.org/obo/DOID_10815 obsolete recurrent duodenal cancer http://purl.obolibrary.org/obo/DOID_654 overnutrition http://purl.obolibrary.org/obo/DOID_374 nutrition disease A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. http://purl.obolibrary.org/obo/SYMP_0020032 chest tightness http://purl.obolibrary.org/obo/SYMP_0020031 chest discomfort A chest discomfort that is characterized by any type of pain or discomfort between your upper belly and lower neck. http://purl.obolibrary.org/obo/DOID_10818 obsolete leptospiral meningitis http://purl.obolibrary.org/obo/DOID_10600 chronic tic disorder http://purl.obolibrary.org/obo/DOID_2769 tic disorder A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder http://purl.obolibrary.org/obo/DOID_630 genetic disease A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. http://purl.obolibrary.org/obo/SYMP_0020033 paroxysmal cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a persistent cough with sudden onset due to difficulty expelling thick mucus from the tracheobronchial tree. This type of cough is associated with diseases such as Pertussis (Whooping Cough). http://purl.obolibrary.org/obo/DOID_10827 obsolete gender identity disorder in adolescent or adult http://purl.obolibrary.org/obo/DOID_10604 lactose intolerance http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose. http://purl.obolibrary.org/obo/DOID_656 adrenal adenoma http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. http://purl.obolibrary.org/obo/DOID_0070358 primary biliary cholangitis 1 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. http://purl.obolibrary.org/obo/DOID_10836 obsolete diabetes mellitus with hyperosmolarity http://purl.obolibrary.org/obo/DOID_10605 short bowel syndrome http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine. http://purl.obolibrary.org/obo/DOID_657 adenoma http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. http://purl.obolibrary.org/obo/DOID_0070359 primary biliary cholangitis 2 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. http://purl.obolibrary.org/obo/DOID_10837 obsolete diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled http://purl.obolibrary.org/obo/DOID_10606 blind loop syndrome http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. http://purl.obolibrary.org/obo/DOID_10838 obsolete diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled http://purl.obolibrary.org/obo/DOID_66 muscle tissue disease http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A muscular disease located in the muscle tissue. http://purl.obolibrary.org/obo/DOID_6688 autoimmune lymphoproliferative syndrome http://purl.obolibrary.org/obo/DOID_2916 hypersensitivity reaction type IV disease A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. http://purl.obolibrary.org/obo/DOID_0070360 primary biliary cholangitis 3 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. http://purl.obolibrary.org/obo/DOID_10608 celiac disease http://purl.obolibrary.org/obo/DOID_0060031 autoimmune disease of gastrointestinal tract An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. http://purl.obolibrary.org/obo/DOID_10848 obsolete intrauterine hypoxia and birth asphyxia http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_936 brain disease An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain. http://purl.obolibrary.org/obo/DOID_0070361 primary biliary cholangitis 4 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. http://purl.obolibrary.org/obo/DOID_10609 rickets http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. http://purl.obolibrary.org/obo/DOID_1086 obsolete congenital chromosomal disease http://purl.obolibrary.org/obo/DOID_672 spleen cancer http://purl.obolibrary.org/obo/DOID_2529 splenic disease A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. http://purl.obolibrary.org/obo/DOID_0070362 primary biliary cholangitis 5 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. http://purl.obolibrary.org/obo/DOID_0081100 spastic paraplegia with deafness http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. http://purl.obolibrary.org/obo/DOID_10612 allergic urticaria http://purl.obolibrary.org/obo/DOID_1555 urticaria An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction. http://purl.obolibrary.org/obo/DOID_10875 obsolete premature labor http://purl.obolibrary.org/obo/DOID_674 cleft palate http://purl.obolibrary.org/obo/DOID_0050567 orofacial cleft An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. http://purl.obolibrary.org/obo/DOID_0081101 nonautoimmune hyperthyroidism http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_10615 acute gonococcal cervicitis http://purl.obolibrary.org/obo/DOID_10616 acute cervicitis An acute cervicitis that is caused by gonorrhea. http://purl.obolibrary.org/obo/DOID_10877 obsolete disorganized type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_679 basal ganglia disease http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits. http://purl.obolibrary.org/obo/DOID_0081102 familial gestational hyperthyroidism http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_10616 acute cervicitis http://purl.obolibrary.org/obo/DOID_2568 cervicitis A cervicitis that is characterized by onset within the past 1 - 3 days. http://purl.obolibrary.org/obo/DOID_10901 obsolete leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/DOID_680 tauopathy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. http://purl.obolibrary.org/obo/DOID_0081104 hot water epilepsy http://purl.obolibrary.org/obo/DOID_2548 reflex epilepsy A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata http://purl.obolibrary.org/obo/DOID_3390 palmoplantar keratosis A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. http://purl.obolibrary.org/obo/DOID_10619 lymph node cancer http://purl.obolibrary.org/obo/DOID_9942 lymph node disease A lymphatic system cancer that is located_in the lymph node. http://purl.obolibrary.org/obo/DOID_10918 obsolete transsexuality with asexual history http://purl.obolibrary.org/obo/DOID_699 mitochondrial myopathy http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by mitochondrial dysfunction. http://purl.obolibrary.org/obo/DOID_0081106 hot water epilepsy 1 http://purl.obolibrary.org/obo/DOID_0081104 hot water epilepsy A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3. http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. http://purl.obolibrary.org/obo/DOID_10922 obsolete sickle-cell crisis http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity http://purl.obolibrary.org/obo/DOID_4 disease A disease that manifests in a defined anatomical structure. http://purl.obolibrary.org/obo/DOID_0081107 hot water epilepsy 2 http://purl.obolibrary.org/obo/DOID_0081104 hot water epilepsy A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28. http://purl.obolibrary.org/obo/DOID_10629 microphthalmia http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease where one or both eyeballs are abnormally small. http://purl.obolibrary.org/obo/DOID_10924 obsolete catatonic type schizophrenia chronic state http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. http://purl.obolibrary.org/obo/DOID_0081108 keratosis palmoplantaris striata 1 http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_10632 Wolfram syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. http://purl.obolibrary.org/obo/DOID_10925 obsolete catatonic schizophrenia http://purl.obolibrary.org/obo/DOID_707 B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0060060 non-Hodgkin lymphoma A non-Hodgkin lymphoma that has_material_basis_in B cells. http://purl.obolibrary.org/obo/DOID_0081109 keratosis palmoplantaris striata 2 http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24. http://purl.obolibrary.org/obo/DOID_1097 obsolete hydrops fetalis http://purl.obolibrary.org/obo/DOID_1064 cystinosis http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. http://purl.obolibrary.org/obo/DOID_731 urinary system benign neoplasm http://purl.obolibrary.org/obo/DOID_18 urinary system disease An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is located_in the urethra. http://purl.obolibrary.org/obo/DOID_0081110 keratosis palmoplantaris striata 3 http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_10998 obsolete chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_10646 schizotypal personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that has_material_basis_in hematopoietic cells. http://purl.obolibrary.org/obo/DOID_0081111 osteosclerotic metaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080019 metaphyseal dysplasia A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_11000 obsolete progressive iris atrophy http://purl.obolibrary.org/obo/DOID_11001 obsolete Iris and ciliary body degeneration http://purl.obolibrary.org/obo/DOID_10652 Alzheimer's disease http://purl.obolibrary.org/obo/DOID_680 tauopathy A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. http://purl.obolibrary.org/obo/DOID_11002 obsolete Iridoschisis http://purl.obolibrary.org/obo/DOID_7427 anthrax disease http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. http://purl.obolibrary.org/obo/DOID_0081112 Baraitser-Winter syndrome 1 http://purl.obolibrary.org/obo/DOID_0060229 Baraitser-Winter syndrome A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. http://purl.obolibrary.org/obo/DOID_11003 obsolete pupillary margin miotic cyst http://purl.obolibrary.org/obo/DOID_10660 mediastinum neuroblastoma http://purl.obolibrary.org/obo/DOID_4691 malignant mediastinal neurogenic neoplasm A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. http://purl.obolibrary.org/obo/DOID_7475 diverticulitis http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. http://purl.obolibrary.org/obo/DOID_0081113 Baraitser-Winter syndrome 2 http://purl.obolibrary.org/obo/DOID_0060229 Baraitser-Winter syndrome A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_11005 obsolete Atrophy of sphincter of iris http://purl.obolibrary.org/obo/DOID_1067 open-angle glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. http://purl.obolibrary.org/obo/DOID_11018 obsolete postsurgical testicular hypofunction http://purl.obolibrary.org/obo/DOID_75 lymphatic system disease http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease that is located_in the lymphatic system. http://purl.obolibrary.org/obo/DOID_0081114 benign familial infantile seizures 1 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q. http://purl.obolibrary.org/obo/DOID_1068 juvenile glaucoma http://purl.obolibrary.org/obo/DOID_1070 primary open angle glaucoma A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures. http://purl.obolibrary.org/obo/DOID_11019 obsolete testicular dysfunction http://purl.obolibrary.org/obo/DOID_7519 endocervical carcinoma http://purl.obolibrary.org/obo/DOID_2893 cervix carcinoma A cervix carcinoma that is located_in the endocervix. http://purl.obolibrary.org/obo/DOID_0081115 benign familial infantile seizures 2 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_10685 separation anxiety disorder http://purl.obolibrary.org/obo/DOID_2030 anxiety disorder An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. http://purl.obolibrary.org/obo/DOID_11020 obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_7551 gonorrhea http://purl.obolibrary.org/obo/DOID_1962 fallopian tube disease A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. http://purl.obolibrary.org/obo/DOID_0081116 benign familial infantile seizures 3 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_10686 lactocele http://purl.obolibrary.org/obo/DOID_10350 breast cyst A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands. http://purl.obolibrary.org/obo/DOID_11027 obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is located_in the stomach. http://purl.obolibrary.org/obo/DOID_0081117 benign familial infantile seizures 4 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1. http://purl.obolibrary.org/obo/DOID_10688 hypertrophy of breast http://purl.obolibrary.org/obo/DOID_3463 breast disease A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue. http://purl.obolibrary.org/obo/DOID_1103 obsolete malignant esophageal neoplasm by topographic region http://purl.obolibrary.org/obo/DOID_769 neuroblastoma http://purl.obolibrary.org/obo/DOID_2621 autonomic nervous system neoplasm An autonomic nervous system neoplasm that derives_from immature nerve cells. http://purl.obolibrary.org/obo/DOID_0081118 benign familial infantile seizures 5 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_10690 mastitis http://purl.obolibrary.org/obo/DOID_3463 breast disease A breast disease characterized by painful infection of the breast tissue. http://purl.obolibrary.org/obo/DOID_1105 obsolete esophageal metastasis http://purl.obolibrary.org/obo/DOID_10691 fat necrosis of breast http://purl.obolibrary.org/obo/DOID_3463 breast disease A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury. http://purl.obolibrary.org/obo/DOID_0081120 Graves ophthalmopathy http://purl.obolibrary.org/obo/DOID_0060030 autoimmune disease of eyes, ear, nose and throat An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in the gastrointestinal tract. http://purl.obolibrary.org/obo/DOID_11056 obsolete Pasteurella hemorrhagic septicemia http://purl.obolibrary.org/obo/DOID_10699 paragonimiasis http://purl.obolibrary.org/obo/DOID_936 brain disease A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. http://purl.obolibrary.org/obo/DOID_780 placenta disease http://purl.obolibrary.org/obo/DOID_345 uterine disease A uterine disease that is located_in the placenta. http://purl.obolibrary.org/obo/DOID_0081121 inclusion body myopathy and brain white matter abnormalities http://purl.obolibrary.org/obo/DOID_0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_11074 obsolete cyst of thyroid http://purl.obolibrary.org/obo/DOID_1070 primary open angle glaucoma http://purl.obolibrary.org/obo/DOID_1067 open-angle glaucoma An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. http://purl.obolibrary.org/obo/DOID_7997 thyrotoxicosis http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease A thyroid gland disease that is characterized by excess thyroid hormone. http://purl.obolibrary.org/obo/DOID_0081122 Catel Manzke syndrome http://purl.obolibrary.org/obo/DOID_0080001 bone disease A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease A thyroid gland disease that involves an over production of thyroid hormone. http://purl.obolibrary.org/obo/DOID_1109 obsolete extracutaneous melanoma http://purl.obolibrary.org/obo/DOID_10718 giardiasis http://purl.obolibrary.org/obo/DOID_2789 parasitic protozoa infectious disease A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia duodenalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. http://purl.obolibrary.org/obo/DOID_0081123 X-linked mental retardation Gustavson type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygous mutation in the RBMX gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_811 lipodystrophy http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. http://purl.obolibrary.org/obo/DOID_11091 obsolete perinatal respiratory disorder http://purl.obolibrary.org/obo/DOID_1074 kidney failure http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. http://purl.obolibrary.org/obo/DOID_0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. http://purl.obolibrary.org/obo/DOID_8125 osteochondrosis http://purl.obolibrary.org/obo/DOID_0080008 ischemic bone disease An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. http://purl.obolibrary.org/obo/DOID_11096 obsolete renal syphilis http://purl.obolibrary.org/obo/DOID_10744 broad ligament malignant neoplasm http://purl.obolibrary.org/obo/DOID_11747 uterine adnexa cancer A uterine adnexa cancer that is located_in the broad ligament. http://purl.obolibrary.org/obo/DOID_0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 http://purl.obolibrary.org/obo/DOID_0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_8200 tertiary syphilis http://purl.obolibrary.org/obo/DOID_4166 syphilis A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. http://purl.obolibrary.org/obo/DOID_11099 obsolete primary Rickettsiaceae infectious disease http://purl.obolibrary.org/obo/DOID_10754 otitis media http://purl.obolibrary.org/obo/DOID_5100 middle ear disease A otitis which involves inflammation of the middle ear. http://purl.obolibrary.org/obo/DOID_0070370 restrictive dermopathy 2 http://purl.obolibrary.org/obo/DOID_0060762 restrictive dermopathy A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_824 periodontitis http://purl.obolibrary.org/obo/DOID_3388 periodontal disease A periodontal disease characterized by progressive destruction of the tooth-supporting apparatus including clinical attachment loss, alveolar bone loss, periodontal pocketing, and gingival bleeding, that is associated with inflammation and dysbiotic plaque biofilms. http://purl.obolibrary.org/obo/DOID_8283 peritonitis http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. http://purl.obolibrary.org/obo/DOID_1110 obsolete gastrointestinal melanoma http://purl.obolibrary.org/obo/DOID_10755 petrositis http://purl.obolibrary.org/obo/DOID_1019 osteomyelitis An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. http://purl.obolibrary.org/obo/DOID_0070452 xanthinuria type I http://purl.obolibrary.org/obo/DOID_0060236 xanthinuria A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_8295 scabies http://purl.obolibrary.org/obo/DOID_7894 mite infestation A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. http://purl.obolibrary.org/obo/DOID_11106 obsolete glaucoma associated with anterior segment anomaly http://purl.obolibrary.org/obo/DOID_10763 hypertension http://purl.obolibrary.org/obo/DOID_0050828 artery disease An artery disease characterized by chronic elevated blood pressure in the arteries. http://purl.obolibrary.org/obo/DOID_0070453 xanthinuria type II http://purl.obolibrary.org/obo/DOID_0060236 xanthinuria A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_83 cataract http://purl.obolibrary.org/obo/DOID_110 lens disease A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. http://purl.obolibrary.org/obo/DOID_11107 obsolete glaucoma associated with ocular disorder http://purl.obolibrary.org/obo/DOID_10773 bubonic plague http://purl.obolibrary.org/obo/DOID_9942 lymph node disease A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. http://purl.obolibrary.org/obo/DOID_0070454 hereditary spastic paraplegia 70 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. http://purl.obolibrary.org/obo/DOID_841 extrinsic allergic alveolitis http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. http://purl.obolibrary.org/obo/DOID_1111 obsolete malignant neoplasm of cervical part of esophagus http://purl.obolibrary.org/obo/DOID_10779 septic myocarditis http://purl.obolibrary.org/obo/DOID_3951 acute myocarditis An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation. http://purl.obolibrary.org/obo/DOID_0070455 hereditary spastic paraplegia 79A http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. http://purl.obolibrary.org/obo/DOID_8432 polycythemia http://purl.obolibrary.org/obo/DOID_4961 bone marrow disease A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. http://purl.obolibrary.org/obo/DOID_11110 obsolete psychosexual dysfunction with female orgasmic disease http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia http://purl.obolibrary.org/obo/DOID_8432 polycythemia A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. http://purl.obolibrary.org/obo/DOID_0070456 hereditary spastic paraplegia 87 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. http://purl.obolibrary.org/obo/DOID_11118 obsolete syphilitic retrobulbar neuritis http://purl.obolibrary.org/obo/DOID_10784 Queensland tick typhus http://purl.obolibrary.org/obo/DOID_11104 spotted fever A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. http://purl.obolibrary.org/obo/DOID_0070457 hereditary spastic paraplegia 88 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. http://purl.obolibrary.org/obo/DOID_8469 influenza http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A (Alphainfluenzavirus), has_material_basis_in Influenzavirus B (Betainfluenzavirus), or has_material_basis_in Influenzavirus C (Gammainfluenzavirus), which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. http://purl.obolibrary.org/obo/DOID_1112 obsolete neck cancer http://purl.obolibrary.org/obo/DOID_10787 premature menopause http://purl.obolibrary.org/obo/DOID_1414 ovarian dysfunction An ovarian dysfunction that is the loss of normal ovarian function before age 40. http://purl.obolibrary.org/obo/DOID_0070458 hereditary spastic paraplegia 89 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. http://purl.obolibrary.org/obo/DOID_848 arthritis http://purl.obolibrary.org/obo/DOID_3342 bone inflammation disease A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint. http://purl.obolibrary.org/obo/DOID_1113 obsolete malignant esophageal neoplasm by anatomic region http://purl.obolibrary.org/obo/DOID_1079 setariasis http://purl.obolibrary.org/obo/DOID_1080 filariasis A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. http://purl.obolibrary.org/obo/DOID_0070459 hereditary spastic paraplegia 90A http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. http://purl.obolibrary.org/obo/DOID_8499 night blindness http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease that is characterized by difficulty or the inability to see in relatively low light. http://purl.obolibrary.org/obo/DOID_11144 obsolete anthrax septicemia http://purl.obolibrary.org/obo/DOID_10790 chronic frontal sinusitis http://purl.obolibrary.org/obo/DOID_10791 frontal sinusitis A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. http://purl.obolibrary.org/obo/DOID_0070460 hereditary spastic paraplegia 90B http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. http://purl.obolibrary.org/obo/DOID_850 lung disease http://purl.obolibrary.org/obo/DOID_0050161 lower respiratory tract disease A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. http://purl.obolibrary.org/obo/DOID_11145 obsolete Pars plana primary cyst http://purl.obolibrary.org/obo/DOID_10791 frontal sinusitis http://purl.obolibrary.org/obo/DOID_0050127 sinusitis A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. http://purl.obolibrary.org/obo/DOID_8502 bullous skin disease http://purl.obolibrary.org/obo/DOID_2723 dermatitis A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. http://purl.obolibrary.org/obo/DOID_0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A http://purl.obolibrary.org/obo/DOID_0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_11147 obsolete vascular lesions of cord complicating labor and delivery http://purl.obolibrary.org/obo/DOID_10792 chronic maxillary sinusitis http://purl.obolibrary.org/obo/DOID_2051 maxillary sinusitis A maxillary sinusitis which lasts for 12 weeks or more. http://purl.obolibrary.org/obo/DOID_8504 impetigo http://purl.obolibrary.org/obo/DOID_4223 pyoderma A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. http://purl.obolibrary.org/obo/DOID_0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B http://purl.obolibrary.org/obo/DOID_0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_11150 obsolete glaucoma due to raised episcleral venous pressure http://purl.obolibrary.org/obo/DOID_10793 chronic sphenoidal sinusitis http://purl.obolibrary.org/obo/DOID_10794 sphenoid sinusitis A sphenoid sinusitis which lasts for 12 weeks or more. http://purl.obolibrary.org/obo/DOID_8515 Cor pulmonale http://purl.obolibrary.org/obo/DOID_6000 congestive heart failure A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. http://purl.obolibrary.org/obo/DOID_854 collagen disease http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. http://purl.obolibrary.org/obo/DOID_0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. http://purl.obolibrary.org/obo/DOID_11158 obsolete disorder of optic chiasm associated with non-pituitary neoplasm http://purl.obolibrary.org/obo/DOID_10794 sphenoid sinusitis http://purl.obolibrary.org/obo/DOID_0050127 sinusitis A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. http://purl.obolibrary.org/obo/DOID_8552 chronic myeloid leukemia http://purl.obolibrary.org/obo/DOID_8692 myeloid leukemia A myeloid leukemia that is characterized by over production of white blood cells. http://purl.obolibrary.org/obo/DOID_0070466 carpal tunnel syndrome 1 http://purl.obolibrary.org/obo/DOID_12169 carpal tunnel syndrome A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1. http://purl.obolibrary.org/obo/DOID_11163 obsolete apnea of prematurity http://purl.obolibrary.org/obo/DOID_1080 filariasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. http://purl.obolibrary.org/obo/DOID_8618 oral cavity cancer http://purl.obolibrary.org/obo/DOID_403 mouth disease A gastrointestinal system cancer that is located_in the oral cavity. http://purl.obolibrary.org/obo/DOID_0070467 carpal tunnel syndrome 2 http://purl.obolibrary.org/obo/DOID_12169 carpal tunnel syndrome A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_11183 obsolete Haemophilus influenzae septicemia http://purl.obolibrary.org/obo/DOID_1081 mansonelliasis http://purl.obolibrary.org/obo/DOID_37 skin disease A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. http://purl.obolibrary.org/obo/DOID_8619 recurrent hypersomnia http://purl.obolibrary.org/obo/DOID_535 sleep disorder A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. http://purl.obolibrary.org/obo/DOID_0081373 disabling pansclerotic morphea http://purl.obolibrary.org/obo/DOID_8472 localized scleroderma A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. http://purl.obolibrary.org/obo/DOID_1119 obsolete large for dates affecting management of mother http://purl.obolibrary.org/obo/DOID_10811 nasal cavity cancer http://purl.obolibrary.org/obo/DOID_2163 nasal cavity disease A respiratory system cancer that is located_in the nasal cavity. http://purl.obolibrary.org/obo/DOID_863 nervous system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_0081374 nemaline myopathy 5B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. http://purl.obolibrary.org/obo/DOID_0081375 nemaline myopathy 5C http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_11215 obsolete premature rupture of the fetal membranes http://purl.obolibrary.org/obo/DOID_1122 obsolete spinal enthesopathy http://purl.obolibrary.org/obo/DOID_10816 duodenum adenocarcinoma http://purl.obolibrary.org/obo/DOID_299 adenocarcinoma A duodenum cancer that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_865 vasculitis http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized by inflammation of the blood vessels. http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy http://purl.obolibrary.org/obo/DOID_3762 cytochrome-c oxidase deficiency disease A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. http://purl.obolibrary.org/obo/DOID_11248 obsolete hemorrhagic disease of newborn http://purl.obolibrary.org/obo/DOID_1082 dirofilariasis http://purl.obolibrary.org/obo/DOID_850 lung disease A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. http://purl.obolibrary.org/obo/DOID_866 vein disease http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is located_in a vein. http://purl.obolibrary.org/obo/DOID_0081428 autosomal recessive distal hereditary motor neuronopathy 9 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_11264 obsolete Chlamydophila infectious disease http://purl.obolibrary.org/obo/DOID_10824 malignant hypertension http://purl.obolibrary.org/obo/DOID_10763 hypertension A hypertension that is characterized by rapid onset of extremely high blood pressure. http://purl.obolibrary.org/obo/DOID_8670 eating disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. http://purl.obolibrary.org/obo/DOID_869 cholesteatoma http://purl.obolibrary.org/obo/DOID_161 keratosis A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. http://purl.obolibrary.org/obo/DOID_870 neuropathy http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease A nervous system disease that is located_in nerves or nerve cells. http://purl.obolibrary.org/obo/DOID_0070549 primary pigmented nodular adrenocortical disease 4 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene. http://purl.obolibrary.org/obo/DOID_8719 in situ carcinoma http://purl.obolibrary.org/obo/DOID_0060071 pre-malignant neoplasm A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. http://purl.obolibrary.org/obo/DOID_8736 smallpox http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk. http://purl.obolibrary.org/obo/DOID_874 bacterial pneumonia http://purl.obolibrary.org/obo/DOID_552 pneumonia A pneumonia involving inflammation of the lungs caused by bacteria. http://purl.obolibrary.org/obo/DOID_8778 Crohn's disease http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An intestinal disease that involves inflammation located_in intestine. http://purl.obolibrary.org/obo/DOID_11268 obsolete vitamin A deficiency with keratomalacia http://purl.obolibrary.org/obo/DOID_11271 obsolete hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium http://purl.obolibrary.org/obo/DOID_11275 obsolete muscle syphilis http://purl.obolibrary.org/obo/DOID_10825 essential hypertension http://purl.obolibrary.org/obo/DOID_10763 hypertension A hypertension with no known cause. It is the most common type of hypertension. http://purl.obolibrary.org/obo/DOID_10841 Eastern equine encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus (Alphavirus eastern), which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma. http://purl.obolibrary.org/obo/DOID_10842 Murray Valley encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus (Orthoflavivirus murrayense), which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. http://purl.obolibrary.org/obo/DOID_0060988 pancreatic agenesis 2 http://purl.obolibrary.org/obo/DOID_0050877 pancreatic agenesis A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12. http://purl.obolibrary.org/obo/DOID_0070603 autosomal dominant nonsyndromic deafness 82 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/DOID_8791 breast carcinoma in situ http://purl.obolibrary.org/obo/DOID_8719 in situ carcinoma An in situ carcinoma that is located_in the breast. http://purl.obolibrary.org/obo/DOID_11284 obsolete disseminated scars of retina http://purl.obolibrary.org/obo/DOID_10843 Western equine encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus (Alphavirus western), which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. http://purl.obolibrary.org/obo/DOID_10844 Japanese encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus (Orthoflavivirus japonicum), which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. http://purl.obolibrary.org/obo/DOID_10845 St. Louis encephalitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus (Orthoflavivirus louisense), which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. http://purl.obolibrary.org/obo/DOID_1085 Edwards syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. http://purl.obolibrary.org/obo/DOID_10852 middle ear cholesterol granuloma http://purl.obolibrary.org/obo/DOID_10754 otitis media A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. http://purl.obolibrary.org/obo/DOID_0061225 interleukin-1 receptor antagonist deficiency http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress that has_material_basis_in homozygous mutation in the IL1RN gene on chromosome 2q14. http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease http://purl.obolibrary.org/obo/DOID_1398 parasitic infectious disease A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. http://purl.obolibrary.org/obo/DOID_11286 obsolete neuromuscular junction toxic disorder http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease located_in the salivary gland. http://purl.obolibrary.org/obo/DOID_0070665 lipofibromatosis http://purl.obolibrary.org/obo/DOID_0060123 connective tissue benign neoplasm A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally. http://purl.obolibrary.org/obo/DOID_8849 sublingual gland cancer http://purl.obolibrary.org/obo/DOID_8850 salivary gland cancer A salivary gland cancer that is located_in the sublingual gland. http://purl.obolibrary.org/obo/DOID_11287 obsolete conditions involving the integument and temperature regulation of fetus and newborn http://purl.obolibrary.org/obo/DOID_10865 abducens nerve palsy http://purl.obolibrary.org/obo/DOID_3817 cranial nerve palsy A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. http://purl.obolibrary.org/obo/DOID_10871 age related macular degeneration http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. http://purl.obolibrary.org/obo/DOID_0070666 infantile myofibromatosis 1 http://purl.obolibrary.org/obo/DOID_0080109 infantile myofibromatosis An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_8850 salivary gland cancer http://purl.obolibrary.org/obo/DOID_8618 oral cavity cancer An oral cavity cancer that is located_in the salivary gland. http://purl.obolibrary.org/obo/DOID_113 obsolete pneumopericardium http://purl.obolibrary.org/obo/DOID_1088 meningocele http://purl.obolibrary.org/obo/DOID_0080016 spina bifida A spina bifida that is characterized by herniation of the meninges between the vertebrae. http://purl.obolibrary.org/obo/DOID_0070667 infantile myofibromatosis 2 http://purl.obolibrary.org/obo/DOID_0080109 infantile myofibromatosis An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_8857 lupus erythematosus http://purl.obolibrary.org/obo/DOID_0060032 autoimmune disease of musculoskeletal system An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. http://purl.obolibrary.org/obo/DOID_11307 obsolete subchronic state latent schizophrenia with acute exacerbation http://purl.obolibrary.org/obo/DOID_10881 hand, foot and mouth disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. http://purl.obolibrary.org/obo/DOID_0070798 infection-induced acute-onset axonal neuropathy http://purl.obolibrary.org/obo/DOID_231 motor neuron disease A motor neuron disease characterized by acute onset of progressive muscle weakness and axonal sensorimotor neuropathy following an infection or febrile episode in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the RCC1 gene on chromosome 1p35. Affected individuals may have progressive cerebral and cerebellar atrophy and may have recurrent episodes resulting in loss of ambulation, long-term ventilatory support, or early death. http://purl.obolibrary.org/obo/DOID_8864 acute monocytic leukemia http://purl.obolibrary.org/obo/DOID_8527 monocytic leukemia A monocytic leukemia where the majority of monocytic cells are promonocytes. http://purl.obolibrary.org/obo/DOID_11308 obsolete latent schizophrenia in remission http://purl.obolibrary.org/obo/DOID_10882 epidemic pleurodynia http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in necrosis located in intercostal muscle and has_material_basis_in Human enterovirus B (Enterovirus betacoxsackie). The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache. http://purl.obolibrary.org/obo/DOID_0070799 kyphomelic dysplasia, Itai-Ikegawa type http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by small thorax, bent long bones, short stature, and common facial dysmorphisms that has_material_basis_in heterozygous mutation in the KIF5B gene on chromosome 10p11. http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis http://purl.obolibrary.org/obo/DOID_0050134 cutaneous mycosis A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. Subtypes are classified by the location on the body. http://purl.obolibrary.org/obo/DOID_11309 obsolete chronic latent schizophrenia http://purl.obolibrary.org/obo/DOID_10883 herpangina http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. http://purl.obolibrary.org/obo/DOID_0070800 leukodystrophy and cerebellar atrophy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by neurodevelopmental defects, leukodystrophy, and cerebellar atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the LSM7 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_8923 skin melanoma http://purl.obolibrary.org/obo/DOID_4159 skin cancer A skin cancer that has_material_basis_in melanocytes. http://purl.obolibrary.org/obo/DOID_11327 obsolete acute schizophrenic episode subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_10887 lepromatous leprosy http://purl.obolibrary.org/obo/DOID_1024 leprosy A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. http://purl.obolibrary.org/obo/DOID_10892 hypospadias http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. http://purl.obolibrary.org/obo/DOID_10907 microcephaly http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. http://purl.obolibrary.org/obo/DOID_0070801 Li-Takada-Miyake syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by prenatal-onset growth impairment, developmental delay, mild intellectual disability, speech impairment, progressive and disproportionate microcephaly or small head, facial asymmetry, congenital heart anomaly, and brain structure abnormalities that has_material_basis_in homozygous mutation in the GON4L gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_8927 learning disability http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. http://purl.obolibrary.org/obo/DOID_11346 obsolete congenital osteodystrophy http://purl.obolibrary.org/obo/DOID_10908 hydrocephalus http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. http://purl.obolibrary.org/obo/DOID_0070802 Gabriele-de Vries syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the YY1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_8955 sideroblastic anemia http://purl.obolibrary.org/obo/DOID_11252 microcytic anemia A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. http://purl.obolibrary.org/obo/DOID_11347 obsolete Meniere's disease in remission http://purl.obolibrary.org/obo/DOID_11349 obsolete epilepsia partialis continua http://purl.obolibrary.org/obo/DOID_1091 tooth disease http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease located_in the teeth. http://purl.obolibrary.org/obo/DOID_0070803 Witteveen-Kolk syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging that has_material_basis_in heterozygous mutation in the SIN3A gene on chromosome 15q24. http://purl.obolibrary.org/obo/DOID_898 autosomal dominant polycystic kidney disease http://purl.obolibrary.org/obo/DOID_0080322 polycystic kidney disease A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. http://purl.obolibrary.org/obo/DOID_11350 obsolete grand mal status epilepticus http://purl.obolibrary.org/obo/DOID_10914 amnestic disorder http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. http://purl.obolibrary.org/obo/DOID_0070804 lung-brain developmental disorder http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset respiratory distress, chronic hypoxemia, diffuse parenchymal lung abnormalities on chest imaging, and developmental delay, with speech and language development more severely affected, that has_material_basis_in homozygous or compound heterozygous mutations in the TMEM63B gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0070805 Muggenthaler-Chowdhury-Chioza syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniofacial dysmorphism, most consistently hypertelorism and a broad flat nose, myopia, and variable additional features including congenital cardiac anomalies, orofacial clefting, and hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the HYAL2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0070806 early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by onset in early childhood of progressive walking difficulties, progressive visual impairment and blindness due to retinitis pigmentosa, sensorineural hearing loss, demyelinating peripheral neuropathy, and severely impaired intellectual development with poor or absent speech that has_material_basis_in homozygous mutation in the KLC4 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0070807 neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by mild developmental delay/impaired intellectual development, variable achalasia, and peripheral motor polyneuropathy without endocrine abnormalities that has_material_basis_in homozygous mutation in the NDC1 gene (610115) on chromosome 1p32. http://purl.obolibrary.org/obo/DOID_0070808 neurodevelopmental disorder with ataxia and brain abnormalities http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy, and bulbar dysfunction with neonatal/infantile onset that has_material_basis_in homozygous mutation in the PTPMT1 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0070809 neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by behavioral phenotypes and a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities, and facial dysmorphism that has_material_basis_in heterozygous mutation in the FEM1B gene on chromosome 15q23. http://purl.obolibrary.org/obo/DOID_0070810 neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by microcephaly, impaired intellectual development, seizures, brain abnormalities seen on MRI, and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the GTF3C3 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_9036 parotid gland cancer http://purl.obolibrary.org/obo/DOID_8850 salivary gland cancer A salivary gland cancer that is located_in the parotid gland. http://purl.obolibrary.org/obo/DOID_11352 obsolete epilepsia partialis continua with intractable epilepsy http://purl.obolibrary.org/obo/DOID_10915 Wernicke-Korsakoff syndrome http://purl.obolibrary.org/obo/DOID_0070313 thiamine deficiency disease A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. http://purl.obolibrary.org/obo/DOID_0070811 neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay, delayed walking or inability to walk, moderate to profoundly impaired intellectual development with poor or absent speech, and poor overall growth, often with microcephaly that has_material_basis_in homozygous mutation in the INPP4A gene gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves peroxisome malfunction. http://purl.obolibrary.org/obo/DOID_11361 obsolete tickborne fever http://purl.obolibrary.org/obo/DOID_10921 Siberian tick typhus http://purl.obolibrary.org/obo/DOID_11104 spotted fever A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. http://purl.obolibrary.org/obo/DOID_0070812 neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early infantile onset of hypotonia, feeding difficulties, poor overall growth, dysmorphic facies, profound developmental delay, and recurrent upper and lower respiratory infections associated with agammaglobulinemia that has_material_basis_in homozygous mutation in the SEL1L gene on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_9113 granuloma inguinale http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia http://purl.obolibrary.org/obo/DOID_8692 myeloid leukemia A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. http://purl.obolibrary.org/obo/DOID_11377 obsolete calculus of gallbladder and bile duct with acute cholecystitis http://purl.obolibrary.org/obo/DOID_10923 sickle cell anemia http://purl.obolibrary.org/obo/DOID_0081445 sickle cell disease A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. http://purl.obolibrary.org/obo/DOID_0070813 progressive ataxia absent speech neurodevelopmental disorder with poor growth and dysmorphic facies http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by dysmorphic facies, delayed motor development with ataxic or spastic gait, impaired intellectual development with absent speech, and poor overall growth, including microcephaly and short stature, that has_material_basis_in homozygous mutation in the SEL1L gene on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_9120 amyloidosis http://purl.obolibrary.org/obo/DOID_0014667 disease of metabolism A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. http://purl.obolibrary.org/obo/DOID_11403 obsolete depressive state induced by drug http://purl.obolibrary.org/obo/DOID_10930 borderline personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. http://purl.obolibrary.org/obo/DOID_0070814 neurodevelopmental disorder with poor growth, seizures, and brain abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by poor overall growth with short stature and microcephaly, motor and speech delay, and mild-to-severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the SPOUT1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_913 atrophic muscular disease http://purl.obolibrary.org/obo/DOID_440 neuromuscular disease A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. http://purl.obolibrary.org/obo/DOID_11409 obsolete syphilitic disseminated chorioretinitis http://purl.obolibrary.org/obo/DOID_10931 dependent personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that is characterized by a pervasive psychological dependence on other people. http://purl.obolibrary.org/obo/DOID_0070815 neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay including delays in walking and speech development, with some having hypotonia and inability to walk unsupported and most being nonverbal, intellectual disability ranging from mild to severe, and behavioral features including aggression, hyperactivity, and autism that has_material_basis_in homozygous mutation in the NAV3 gene on chromosome 12q21. http://purl.obolibrary.org/obo/DOID_9182 pemphigus http://purl.obolibrary.org/obo/DOID_8502 bullous skin disease An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured. http://purl.obolibrary.org/obo/DOID_1141 obsolete alternating exotropia with V pattern http://purl.obolibrary.org/obo/DOID_10932 obsessive-compulsive personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. http://purl.obolibrary.org/obo/DOID_0070816 neurodevelopmental disorder with progressive spasticity and brain abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with moderate to severely impaired intellectual development, poor or absent speech, hypotonia, and delayed walking or inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the EEFSEC gene on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. http://purl.obolibrary.org/obo/DOID_11421 obsolete acquired cavovarus foot deformity http://purl.obolibrary.org/obo/DOID_10933 obsessive-compulsive disorder http://purl.obolibrary.org/obo/DOID_2030 anxiety disorder An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). http://purl.obolibrary.org/obo/DOID_0070817 neurodevelopmental disorder with seizures and joint laxity http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development, seizures, joint hypermobility, hypotonia, macrocephaly, and failure to thrive that has_material_basis_in heterozygous mutation in the RNU5B-1 gene on chromosome 15q22. http://purl.obolibrary.org/obo/DOID_9256 colorectal cancer http://purl.obolibrary.org/obo/DOID_5672 large intestine cancer A large intestine cancer that is located_in the colon and/or located_in the rectum. http://purl.obolibrary.org/obo/DOID_11436 obsolete recurrent cholesteatoma post-mastoidectomy http://purl.obolibrary.org/obo/DOID_10934 multiple personality disorder http://purl.obolibrary.org/obo/DOID_10935 dissociative disorder A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. http://purl.obolibrary.org/obo/DOID_0070818 neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by severe intellectual disability, spastic tetraparesis, reduced vision, and epilepsy, associated with severe hydrocephalus, corpus callosum agenesis/hypoplasia, mild ventricular dilation, optic nerve hypoplasia, and white matter reduction that has_material_basis_in homozygous or compound heterozygous mutation in the FSD1L gene on chromosome 9q31. http://purl.obolibrary.org/obo/DOID_9265 histidine metabolism disease http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that involves deficiency in histidine. http://purl.obolibrary.org/obo/DOID_11441 obsolete macrodactylia of toes http://purl.obolibrary.org/obo/DOID_10935 dissociative disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). http://purl.obolibrary.org/obo/DOID_0070819 neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by microcephaly, thinning of the corpus callosum, intellectual disability, hypotonia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the EEF1D gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_9275 tyrosinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. http://purl.obolibrary.org/obo/DOID_11442 obsolete malignant mast cell tumors involving lymph node of head http://purl.obolibrary.org/obo/DOID_10936 schizoid personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. http://purl.obolibrary.org/obo/DOID_0070820 neurodevelopmental disorder with white matter abnormalities and gait disturbance http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by macrocephaly, global developmental delay, impaired intellectual development, seizures, behavioral abnormalities, hypotonia, and gait disturbance that has_material_basis_in homozygous or compound heterozygous mutation in the FAM177A1 gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_9283 borderline glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. http://purl.obolibrary.org/obo/DOID_11451 obsolete secondary syphilitic meningitis http://purl.obolibrary.org/obo/DOID_10937 impulse control disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. http://purl.obolibrary.org/obo/DOID_0070821 ocular pterygium-digital keloid dysplasia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by aggressive circumferential ingrowth of conjunctiva beginning in early childhood that is resistant to treatment, ultimately covering the cornea and resulting in loss of vision, and digital keloid formation after minor trauma that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_9297 lip disease http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease located_in the lip. http://purl.obolibrary.org/obo/DOID_11489 obsolete vitamin A deficiency with conjunctival xerosis and Bitot's spot http://purl.obolibrary.org/obo/DOID_10938 paranoid personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. http://purl.obolibrary.org/obo/DOID_0070822 oculovertebral syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable expressivity of uveal coloboma, often associated with other ocular abnormalities, and missing vertebrae in the thoracic and/or lumber spine that has_material_basis_in heterozygous mutation in the NR6A1 gene on chromosome 9q33. http://purl.obolibrary.org/obo/DOID_93 language disorder http://purl.obolibrary.org/obo/DOID_2033 communication disorder A communication disorder that involves the processing of linguistic information. http://purl.obolibrary.org/obo/DOID_11490 obsolete vitamin A deficiency with night blindness http://purl.obolibrary.org/obo/DOID_10939 antisocial personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. http://purl.obolibrary.org/obo/DOID_0070823 Paul-Chao neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, delayed walking, variably impaired intellectual development, and poor or absent speech that has_material_basis_in heterozygous mutation in the PPFIA3 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_0080001 bone disease An adnexa disease that is located_in the eye socket. http://purl.obolibrary.org/obo/DOID_1150 obsolete bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_11524 obsolete Hyphema of iris and ciliary body http://purl.obolibrary.org/obo/DOID_1094 attention deficit hyperactivity disorder http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. http://purl.obolibrary.org/obo/DOID_0070824 spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by short stature, a general delay in bone maturation and epiphyseal ossification, and features suggestive of ectodermal dysplasia, including conical teeth and/or early tooth decay and sparse hair, that has_material_basis_in homozygous or compound heterozygous mutation in the MIMS1 gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_934 viral infectious disease http://purl.obolibrary.org/obo/DOID_0050117 disease by infectious agent A disease by infectious agent that results in infection, has_material_basis_in Viruses. http://purl.obolibrary.org/obo/DOID_11525 obsolete Iris and ciliary body vascular disorder http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease located_in the tongue. http://purl.obolibrary.org/obo/DOID_0070825 spondyloepiphyseal dysplasia, Holling type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by disproportionate short stature and abnormalities of both the axial and appendicular skeleton with epiphyseal anomalies most prominent that has_material_basis_in homozygous mutation in the BNIP1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_9351 diabetes mellitus http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. http://purl.obolibrary.org/obo/DOID_11535 obsolete dysplasia of prostate http://purl.obolibrary.org/obo/DOID_10952 nephritis http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by an inflammation of the kidneys. http://purl.obolibrary.org/obo/DOID_0070826 Tayoun-Maawali syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by growth restriction, neurodevelopmental delay, and craniofacial abnormalities that has_material_basis_in homozygous mutation in the FBXO22 gene on chromosome 15q24. http://purl.obolibrary.org/obo/DOID_9352 type 2 diabetes mellitus http://purl.obolibrary.org/obo/DOID_9351 diabetes mellitus A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. http://purl.obolibrary.org/obo/DOID_936 brain disease http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is located_in the brain. http://purl.obolibrary.org/obo/DOID_9406 hypopituitarism http://purl.obolibrary.org/obo/DOID_53 pituitary gland disease A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. http://purl.obolibrary.org/obo/DOID_11575 obsolete pneumococcal meningitis http://purl.obolibrary.org/obo/DOID_10955 strongyloidiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. http://purl.obolibrary.org/obo/DOID_10965 spastic diplegia http://purl.obolibrary.org/obo/DOID_0050669 spastic cerebral palsy A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. http://purl.obolibrary.org/obo/DOID_0070827 X-linked female-restricted neurodegenerative disorder with Parkinsonism and cognitive impairment http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A Parkinsonism that occurs in females characterized by progressive parkinsonism movement abnormalities associated with variable cognitive impairment and/or psychiatric abnormalities that has_material_basis_in heterozygous mutation in the SLC9A6 gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_9409 diabetes insipidus http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration. http://purl.obolibrary.org/obo/DOID_11578 obsolete Escherichia coli meningitis http://purl.obolibrary.org/obo/DOID_10967 spastic hemiplegia http://purl.obolibrary.org/obo/DOID_0050669 spastic cerebral palsy A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side, the arm and leg may not develop normally. http://purl.obolibrary.org/obo/DOID_0070828 X-linked retinal dystrophy, Gardner-Hardcastle type http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration A retinal degeneration characterized by early childhood onset of night blindness or light sensitivity, reduced visual acuity, and variable maculopathy with foveal hypoplasia that has_material_basis_in hemizygous interchromosomal insertion at chromosome Xq27. http://purl.obolibrary.org/obo/DOID_9423 blepharitis http://purl.obolibrary.org/obo/DOID_530 eyelid disease An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. http://purl.obolibrary.org/obo/DOID_11582 obsolete syphilitic aortitis http://purl.obolibrary.org/obo/DOID_10968 spastic monoplegia http://purl.obolibrary.org/obo/DOID_0050669 spastic cerebral palsy A spastic cerebral palsy that affects only one limb. http://purl.obolibrary.org/obo/DOID_0070829 microcephaly, epilepsy, and diabetes syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by microcephaly, epilepsy, and infantile diabetes. http://purl.obolibrary.org/obo/DOID_9428 intracranial hypertension http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema. http://purl.obolibrary.org/obo/DOID_11584 obsolete acute schizophrenic episode in remission http://purl.obolibrary.org/obo/DOID_10969 hemiplegia http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is characterized by the complete paralysis of half of the body. http://purl.obolibrary.org/obo/DOID_0070830 microcephaly, epilepsy, and diabetes syndrome 1 http://purl.obolibrary.org/obo/DOID_0070829 microcephaly, epilepsy, and diabetes syndrome A microcephaly, epilepsy, and diabetes syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/DOID_4138 bile duct disease A bile duct disease that is an inflammation of the bile duct. http://purl.obolibrary.org/obo/DOID_11597 obsolete cold injury syndrome of newborn http://purl.obolibrary.org/obo/DOID_10970 spastic quadriplegic cerebral palsy http://purl.obolibrary.org/obo/DOID_0050669 spastic cerebral palsy A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking. http://purl.obolibrary.org/obo/DOID_0070831 microcephaly, epilepsy, and diabetes syndrome 2 http://purl.obolibrary.org/obo/DOID_0070829 microcephaly, epilepsy, and diabetes syndrome A microcephaly, epilepsy, and diabetes syndrome that has_material_basis_in homozygous mutation in the YIPF5 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0070832 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by developmental delay, microcephaly, impaired speech and ambulation, epilepsy, and cortical malformations, with a relatively wide spectrum of severity ranging from early death to intellectual disability with mild motor impairment, that has_material_basis_in homozygous or compound heterozygous mutation in the TMX2 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. http://purl.obolibrary.org/obo/DOID_9460 uterine corpus cancer http://purl.obolibrary.org/obo/DOID_363 uterine cancer A uterine cancer that is located_in the uterine corpus. http://purl.obolibrary.org/obo/DOID_9463 otitis externa http://purl.obolibrary.org/obo/DOID_379 external ear disease An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections. http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis http://purl.obolibrary.org/obo/DOID_9471 meningitis A meningitis that has_material_basis_in a bacterial infection. http://purl.obolibrary.org/obo/DOID_9471 meningitis http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. http://purl.obolibrary.org/obo/DOID_9500 leukocyte disease http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease A hematopoietic system disease that is located_in white blood cells. http://purl.obolibrary.org/obo/DOID_11600 obsolete secondary malignant neoplasm of lymph nodes of multiple site http://purl.obolibrary.org/obo/DOID_10974 oophoritis http://purl.obolibrary.org/obo/DOID_1100 ovarian disease An ovarian disease that is characterized by inflammation of the ovary. http://purl.obolibrary.org/obo/ENVO_00002003 fecal material http://purl.obolibrary.org/obo/CHEBI_50904 allergen An excreta material which is composed primarily of feces, an excreta consisting of waste products expelled from an animal's digestive tract through the anus (or cloaca) during defecation. http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease that is located_in the adrenal gland. http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia http://purl.obolibrary.org/obo/DOID_0060340 ciliopathy A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. http://purl.obolibrary.org/obo/DOID_11604 obsolete idiopathic hydrops fetalis http://purl.obolibrary.org/obo/DOID_1098 hemolytic disease of the fetus http://purl.obolibrary.org/obo/DOID_11252 microcytic anemia A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis. http://purl.obolibrary.org/obo/ENVO_2000004 algal bloom http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A feature that arises from a rapid increase or accumulation in the population of algae (typically microscopic) in an aquatic system. http://purl.obolibrary.org/obo/DOID_9588 encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. http://purl.obolibrary.org/obo/DOID_11606 obsolete ileal disease http://purl.obolibrary.org/obo/DOID_11649 obsolete transitory tachypnea of newborn http://purl.obolibrary.org/obo/DOID_11654 obsolete nevus of ota http://purl.obolibrary.org/obo/DOID_10983 Alport syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome disease that is characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. http://purl.obolibrary.org/obo/SYMP_0000838 breakthrough pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by occurring with movement and is not controlled by a scheduled pain medication regimen, such that the pain breaks through the current regimen. This is usually referred to in the context of a short and long acting opioid, the short acting opioid being used to treat the breakthrough pain. http://purl.obolibrary.org/obo/SYMP_0000000 cellulitis http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom Cellulitis is a musculoskeletal system symptom characterized as a diffuse and especially subcutaneous inflammation of connective tissue. http://purl.obolibrary.org/obo/NCIT_C689 Niacin http://purl.obolibrary.org/obo/CHEBI_33229 vitamin (role) A water-soluble vitamin belonging to the vitamin B family, which occurs in many animal and plant tissues, with antihyperlipidemic activity. Niacin is converted to its active form niacinamide, which is a component of the coenzymes nicotinamide adenine dinucleotide (NAD) and its phosphate form, NADP. These coenzymes play an important role in tissue respiration and in glycogen, lipid, amino acid, protein, and purine metabolism. Although the exact mechanism of action by which niacin lowers cholesterol is not fully understood, it may act by inhibiting the synthesis of very low density lipoproteins (VLDL), inhibiting the release of free fatty acids from adipose tissue, increasing lipoprotein lipase activity, and reducing the hepatic synthesis of VLDL-C and LDL-C. http://purl.obolibrary.org/obo/NCIT_C809 Ricin http://purl.obolibrary.org/obo/CHEBI_27026 toxin A phytotoxin and lectin comprised of a homodimer of ricin toxin A and B chains derived from the seeds of Ricinus communis, the castor oil plant, with protein synthesis inhibitory activity and extremely high cytotoxicity. Following ingestion, inhalation or injection of ricin, the B chain binds to complex carbohydrates containing either terminal N-acetylgalactosamine or beta-1,4-linked galactose residues on the surface of cells. Subsequently, the ricin A/B heterodimer is internalized and undergoes retrograde transport to the endoplasmic reticulum (ER). In the ER, the A chain, which has enzymatic activity that is sterically hindered by the B chain, is proteolytically released from the heterodimer by protein disulfide isomerase. In the ER, the free A chain has N-glycosidase activity that cleaves 28S rRNA. This enzymatic cleavage disrupts the ribosome, halts protein synthesis, and can lead to cell death. The extreme cytotoxicity of ricin makes it an attractive candidate for artificial fusion with binding proteins to create cell-type-specific toxins. http://purl.obolibrary.org/obo/ENVO_01001297 cyclone http://purl.obolibrary.org/obo/ExO_0000007 ecological perturbation An atmospheric storm during which a large mass of atmospheric gas rotates around a centre of low atmospheric pressure, generating high winds which spiral towards that centre. http://purl.obolibrary.org/obo/DOID_0040104 toluene 2,4-diisocyanate allergic asthma http://purl.obolibrary.org/obo/DOID_0040043 toluene meta-diisocyanate allergic asthma A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. http://purl.obolibrary.org/obo/DOID_0070000 3-methylglutaconic aciduria type 8 http://purl.obolibrary.org/obo/DOID_0060336 3-methylglutaconic aciduria A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_9590 lower urinary tract calculus http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. http://purl.obolibrary.org/obo/DOID_963 episodic ataxia http://purl.obolibrary.org/obo/DOID_0050951 hereditary ataxia A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. http://purl.obolibrary.org/obo/DOID_11662 obsolete color vision defect http://purl.obolibrary.org/obo/DOID_10986 discitis http://purl.obolibrary.org/obo/DOID_1222 cartilage disease A cartilage disease that is characterized by an infection of the intervertebral disc space. http://purl.obolibrary.org/obo/DOID_0070002 3-methylglutaconic aciduria type 9 http://purl.obolibrary.org/obo/DOID_0060336 3-methylglutaconic aciduria A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_9637 stomatitis http://purl.obolibrary.org/obo/DOID_9297 lip disease A mouth disease that is characterized by inflammation of the mouth and lips. http://purl.obolibrary.org/obo/DOID_11683 obsolete glaucoma associated with systemic syndromes http://purl.obolibrary.org/obo/DOID_1099 alpha thalassemia http://purl.obolibrary.org/obo/DOID_10241 thalassemia A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. http://purl.obolibrary.org/obo/DOID_0070163 spermatogenic failure 21 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. http://purl.obolibrary.org/obo/DOID_9669 senile cataract http://purl.obolibrary.org/obo/DOID_83 cataract A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging. http://purl.obolibrary.org/obo/DOID_11696 obsolete chronic hypomanic disorder http://purl.obolibrary.org/obo/DOID_11705 obsolete impaired renal function disease http://purl.obolibrary.org/obo/DOID_11711 obsolete Pregnancy in Diabetics http://purl.obolibrary.org/obo/DOID_10992 acute hemorrhagic leukoencephalitis http://purl.obolibrary.org/obo/DOID_639 acute disseminated encephalomyelitis A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. http://purl.obolibrary.org/obo/DOID_0070164 spermatogenic failure 2 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_9675 pulmonary emphysema http://purl.obolibrary.org/obo/DOID_3083 chronic obstructive pulmonary disease A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls. http://purl.obolibrary.org/obo/DOID_970 tenosynovitis http://purl.obolibrary.org/obo/DOID_971 tendinitis An arthropathy that is characterized as an inflammation of the lining of the sheath that surrounds a tendon. http://purl.obolibrary.org/obo/DOID_9720 vitreous disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye and adnexa disease that is located in the vitreous of the eye. http://purl.obolibrary.org/obo/DOID_10993 postinfectious encephalitis http://purl.obolibrary.org/obo/DOID_9588 encephalitis An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial infection. http://purl.obolibrary.org/obo/DOID_11730 obsolete Borrelia infectious disease http://purl.obolibrary.org/obo/DOID_0070165 spermatogenic failure 18 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0070166 spermatogenic failure 20 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_9739 eustachian tube disease http://purl.obolibrary.org/obo/DOID_11180 non-suppurative otitis media A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be caused by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/DOID_1579 respiratory system disease A respiratory system disease which involves the upper respiratory tract. http://purl.obolibrary.org/obo/DOID_9741 biliary tract disease http://purl.obolibrary.org/obo/DOID_3118 hepatobiliary disease A hepatobiliary disease that is located_in the biliary tract. http://purl.obolibrary.org/obo/DOID_10997 immature cataract http://purl.obolibrary.org/obo/DOID_9669 senile cataract A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining. http://purl.obolibrary.org/obo/DOID_9742 pelvic varices http://purl.obolibrary.org/obo/DOID_799 varicose veins A varicose veins that is located_in the pelvis. http://purl.obolibrary.org/obo/DOID_11732 obsolete syphilitic myocarditis http://purl.obolibrary.org/obo/DOID_0070167 spermatogenic failure 6 http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_0070168 spermatogenic failure 3 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0070169 spermatogenic failure 8 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. http://purl.obolibrary.org/obo/DOID_110 lens disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye. http://purl.obolibrary.org/obo/DOID_9744 type 1 diabetes mellitus http://purl.obolibrary.org/obo/DOID_9351 diabetes mellitus A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. http://purl.obolibrary.org/obo/DOID_11733 obsolete syphilitic aortic aneurysm http://purl.obolibrary.org/obo/DOID_0070170 spermatogenic failure 19 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. http://purl.obolibrary.org/obo/DOID_1100 ovarian disease http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is located_in the ovary. http://purl.obolibrary.org/obo/DOID_9809 hypersensitivity vasculitis http://purl.obolibrary.org/obo/DOID_1557 hypersensitivity reaction type III disease A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers. http://purl.obolibrary.org/obo/DOID_11734 obsolete syphilitic pericarditis http://purl.obolibrary.org/obo/DOID_0070171 spermatogenic failure 12 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_9840 esotropia http://purl.obolibrary.org/obo/DOID_540 strabismus A strabismus that is characterized the eye which turns inward toward the nose. http://purl.obolibrary.org/obo/DOID_11037 dissociative amnesia http://purl.obolibrary.org/obo/DOID_10935 dissociative disorder A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. http://purl.obolibrary.org/obo/DOID_11735 obsolete single manic episode in full remission http://purl.obolibrary.org/obo/DOID_11038 depersonalization disorder http://purl.obolibrary.org/obo/DOID_10935 dissociative disorder A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. http://purl.obolibrary.org/obo/DOID_11042 Felty's syndrome http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease An autoimmune disease that results_in rheumatoid arthritis, splenomegaly and neutropenia. http://purl.obolibrary.org/obo/DOID_11049 meconium aspiration syndrome http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery. http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_3996 urinary system cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder. http://purl.obolibrary.org/obo/DOID_0070172 spermatogenic failure 15 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_9847 peripheral vertigo http://purl.obolibrary.org/obo/DOID_3426 vestibular disease A vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance. http://purl.obolibrary.org/obo/DOID_11753 obsolete biliary calculus with acute cholecystitis http://purl.obolibrary.org/obo/DOID_11055 pasteurellosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. http://purl.obolibrary.org/obo/DOID_11060 placenta praevia http://purl.obolibrary.org/obo/DOID_780 placenta disease A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. http://purl.obolibrary.org/obo/DOID_1107 esophageal carcinoma http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0070173 spermatogenic failure 7 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0070174 spermatogenic failure 17 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. http://purl.obolibrary.org/obo/DOID_9849 Meniere's disease http://purl.obolibrary.org/obo/DOID_9848 endolymphatic hydrops A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. http://purl.obolibrary.org/obo/DOID_11756 obsolete calculus of bile duct with acute cholecystitis http://purl.obolibrary.org/obo/DOID_11076 Brucella suis brucellosis http://purl.obolibrary.org/obo/DOID_11077 brucellosis A brucellosis that involves an infection caused by Brucella suis in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. http://purl.obolibrary.org/obo/DOID_0070176 spermatogenic failure 4 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_9856 congenital syphilis http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A syphilis that results_in a multisystem infection in the fetus via the placenta. http://purl.obolibrary.org/obo/DOID_11770 obsolete hypersecretion of testicular hormones http://purl.obolibrary.org/obo/DOID_11775 obsolete hereditary trophedema http://purl.obolibrary.org/obo/DOID_11077 brucellosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. http://purl.obolibrary.org/obo/DOID_0070177 spermatogenic failure 22 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0070178 spermatogenic failure 10 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_9857 interstitial keratitis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation. http://purl.obolibrary.org/obo/DOID_11802 obsolete protein deficiency http://purl.obolibrary.org/obo/DOID_11079 leech infestation http://purl.obolibrary.org/obo/DOID_4110 parasitic ectoparasitic infectious disease A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. http://purl.obolibrary.org/obo/DOID_0070179 spermatogenic failure 14 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by male infertility due to azoospermia with sperm maturation arrest in the spermatid stage that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_986 alopecia areata http://purl.obolibrary.org/obo/DOID_0060039 autoimmune disease of skin and connective tissue An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. http://purl.obolibrary.org/obo/DOID_11806 obsolete macrodactylia of fingers http://purl.obolibrary.org/obo/DOID_11080 myiasis http://purl.obolibrary.org/obo/DOID_4110 parasitic ectoparasitic infectious disease A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. http://purl.obolibrary.org/obo/DOID_987 alopecia http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that is characterized by a loss of hair from the head or body. http://purl.obolibrary.org/obo/DOID_0070180 spermatogenic failure 11 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_11810 obsolete metastatic neoplasm to the bladder http://purl.obolibrary.org/obo/DOID_11088 asphyxia neonatorum http://purl.obolibrary.org/obo/DOID_1579 respiratory system disease A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain. http://purl.obolibrary.org/obo/DOID_9870 galactosemia http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. http://purl.obolibrary.org/obo/DOID_0070181 spermatogenic failure 23 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_11815 obsolete recurrent malignant bladder neoplasm http://purl.obolibrary.org/obo/DOID_11828 obsolete visual cortex disorder due to vascular disorder http://purl.obolibrary.org/obo/DOID_11100 Q fever http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy is characterized by progressive skeletal muscle weakness degeneration. http://purl.obolibrary.org/obo/DOID_0070182 spermatogenic failure 13 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. http://purl.obolibrary.org/obo/DOID_1183 obsolete nephrotic syndrome with lesion of membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_11101 trench fever http://purl.obolibrary.org/obo/DOID_11102 bartonellosis A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back. http://purl.obolibrary.org/obo/DOID_9938 dacryocystitis http://purl.obolibrary.org/obo/DOID_6970 acute inflammation of lacrimal passage An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge. http://purl.obolibrary.org/obo/DOID_0070183 spermatogenic failure 5 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_11837 obsolete malignant neoplasm of scapula and long bones of upper limb http://purl.obolibrary.org/obo/DOID_11102 bartonellosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. http://purl.obolibrary.org/obo/DOID_9952 acute lymphoblastic leukemia http://purl.obolibrary.org/obo/DOID_12603 acute leukemia A acute leukemia that is characterized by over production of lymphoblasts. http://purl.obolibrary.org/obo/DOID_0070184 spermatogenic failure 16 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_11103 rickettsialpox http://purl.obolibrary.org/obo/DOID_11104 spotted fever A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. http://purl.obolibrary.org/obo/DOID_11849 obsolete degenerative changes of ciliary body http://purl.obolibrary.org/obo/DOID_9957 periostitis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by inflammation located_in the periosteum of the bone. http://purl.obolibrary.org/obo/DOID_0070185 X-linked spermatogenic failure 2 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. http://purl.obolibrary.org/obo/DOID_11104 spotted fever http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. http://purl.obolibrary.org/obo/DOID_11852 obsolete aortic valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_9965 toxoplasmosis http://purl.obolibrary.org/obo/DOID_2113 coccidiosis A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. http://purl.obolibrary.org/obo/DOID_0070186 Y-linked spermatogenic failure 1 http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. http://purl.obolibrary.org/obo/DOID_11105 fundus albipunctatus http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. http://purl.obolibrary.org/obo/DOID_11854 obsolete monocular exotropia with A pattern http://purl.obolibrary.org/obo/DOID_9970 obesity http://purl.obolibrary.org/obo/DOID_654 overnutrition An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. http://purl.obolibrary.org/obo/DOID_0070187 Y-linked spermatogenic failure 2 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. http://purl.obolibrary.org/obo/DOID_11111 hydronephrosis http://purl.obolibrary.org/obo/DOID_18 urinary system disease An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine. http://purl.obolibrary.org/obo/DOID_11855 obsolete intermittent monocular exotropia http://purl.obolibrary.org/obo/DOID_9973 substance dependence http://purl.obolibrary.org/obo/DOID_303 substance-related disorder A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. http://purl.obolibrary.org/obo/DOID_0070188 spermatogenic failure 1 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. http://purl.obolibrary.org/obo/DOID_11119 Gilles de la Tourette syndrome http://purl.obolibrary.org/obo/DOID_2769 tic disorder A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. http://purl.obolibrary.org/obo/DOID_11856 obsolete monocular exotropia with V pattern http://purl.obolibrary.org/obo/DOID_9988 tertiary neurosyphilis http://purl.obolibrary.org/obo/DOID_936 brain disease A tertiary syphilis that results in infection located in brain or located in spinal cord. http://purl.obolibrary.org/obo/DOID_0070189 X-linked spermatogenic failure 1 http://purl.obolibrary.org/obo/DOID_0050457 Sertoli cell-only syndrome A Sertoli cell-only syndrome characterized by X-linked inheritance. http://purl.obolibrary.org/obo/DOID_11121 pulpitis http://purl.obolibrary.org/obo/DOID_5330 dental pulp disease A dental pulp disease characterized by inflammation. http://purl.obolibrary.org/obo/DOID_11861 obsolete prolonged pregnancy http://purl.obolibrary.org/obo/SYMP_0019152 diaphoresis http://purl.obolibrary.org/obo/SYMP_0019175 sweaty A sweat that is characterized by excessive sweating commonly associated with shock and other medical emergency conditions. http://purl.obolibrary.org/obo/DOID_0070191 autosomal recessive chronic granulomatous disease 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_11123 IgA vasculitis http://purl.obolibrary.org/obo/DOID_9809 hypersensitivity vasculitis A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. http://purl.obolibrary.org/obo/DOID_11862 obsolete late pregnancy http://purl.obolibrary.org/obo/ExO_0000007 ecological perturbation http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver An exposure stressor that is a change in the distributions, abundance and relations of organisms and their interactions with the environment. http://purl.obolibrary.org/obo/DOID_0070192 autosomal recessive chronic granulomatous disease 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. http://purl.obolibrary.org/obo/DOID_1114 esophagus sarcoma http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. http://purl.obolibrary.org/obo/DOID_11868 obsolete chronic erythremia http://purl.obolibrary.org/obo/ExO_0000015 poverty http://purl.obolibrary.org/obo/DISDRIV_0000002 socioeconomic driver A psychosocial agent that is a situation in which the level of living of an individual, family, or group is below the standard of the community. It is often related to a specific income level. http://purl.obolibrary.org/obo/DOID_0070193 autosomal recessive chronic granulomatous disease 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. http://purl.obolibrary.org/obo/DOID_11148 hypersecretion glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow. http://purl.obolibrary.org/obo/DOID_11872 obsolete Staphylococcus aureus septicemia http://purl.obolibrary.org/obo/NCIT_C28266 Mold http://purl.obolibrary.org/obo/NCIT_C14329 Microorganism A very large group of microscopic fungi that live on plant or animal matter. Most are filamentous organisms and produce spores that can be air-, water-, or insect-borne. http://purl.obolibrary.org/obo/DOID_0070194 autosomal recessive chronic granulomatous disease 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_11149 aqueous misdirection http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity. http://purl.obolibrary.org/obo/DOID_11873 obsolete staphylococcal septicemia http://purl.obolibrary.org/obo/DOID_0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay http://purl.obolibrary.org/obo/DOID_8955 sideroblastic anemia A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. http://purl.obolibrary.org/obo/DOID_0070195 X-linked chronic granulomatous disease http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. http://purl.obolibrary.org/obo/DOID_1115 sarcoma http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. http://purl.obolibrary.org/obo/DOID_11939 obsolete schizo-affective type schizophrenia subchronic state http://purl.obolibrary.org/obo/DOID_0080544 hyper IgM syndrome http://purl.obolibrary.org/obo/DOID_2959 hyperimmunoglobulin syndrome A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. http://purl.obolibrary.org/obo/DOID_0070196 infantile-onset distal myopathy http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. http://purl.obolibrary.org/obo/DOID_11153 miliaria rubra http://purl.obolibrary.org/obo/DOID_1382 miliaria A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction. http://purl.obolibrary.org/obo/DOID_11155 hypohidrosis http://purl.obolibrary.org/obo/DOID_1383 sweat gland disease A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands. http://purl.obolibrary.org/obo/DOID_11946 obsolete habitual abortion http://purl.obolibrary.org/obo/DOID_0070197 distal myopathy 1 http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/DOID_0080545 hyper IgE syndrome http://purl.obolibrary.org/obo/DOID_2959 hyperimmunoglobulin syndrome A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. http://purl.obolibrary.org/obo/DOID_11156 anhidrosis http://purl.obolibrary.org/obo/DOID_11155 hypohidrosis A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin. http://purl.obolibrary.org/obo/DOID_11947 obsolete recurrent major depression in complete remission http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. http://purl.obolibrary.org/obo/DOID_0111357 adermatoglyphia http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3. http://purl.obolibrary.org/obo/DOID_1116 pertussis http://purl.obolibrary.org/obo/DOID_0050339 commensal bacterial infectious disease A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). http://purl.obolibrary.org/obo/DOID_11161 neonatal respiratory failure http://purl.obolibrary.org/obo/DOID_11162 respiratory failure A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates. http://purl.obolibrary.org/obo/DOID_11950 obsolete Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_11162 respiratory failure http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease characterized by inadequate gas exchange by the respiratory system. http://purl.obolibrary.org/obo/DOID_0070199 Miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0111358 Floating-Harbor syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_11952 obsolete Congenital cardiovascular disorder of mother, with delivery http://purl.obolibrary.org/obo/DOID_11165 common wart http://purl.obolibrary.org/obo/DOID_11166 Human papillomavirus infectious disease A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body. http://purl.obolibrary.org/obo/DOID_0070200 Miyoshi muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. http://purl.obolibrary.org/obo/DOID_0111359 large congenital melanocytic nevus http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_0070201 Miyoshi muscular dystrophy 3 http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. http://purl.obolibrary.org/obo/DOID_11954 obsolete psychosexual dysfunction with inhibited sexual excitement http://purl.obolibrary.org/obo/DOID_11166 Human papillomavirus infectious disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. http://purl.obolibrary.org/obo/DOID_0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/DOID_0070202 familial partial lipodystrophy type 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_11955 obsolete malnutrition of moderate degree http://purl.obolibrary.org/obo/DOID_11168 anogenital venereal wart http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. http://purl.obolibrary.org/obo/DOID_0111361 hypotrichosis-lymphedema-telangiectasia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/DOID_0070203 familial partial lipodystrophy type 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_11970 obsolete symptomatic menopausal or female climacteric state http://purl.obolibrary.org/obo/DOID_11180 non-suppurative otitis media http://purl.obolibrary.org/obo/DOID_10754 otitis media A otitis media which involves transudation of fluid in the middle ear without pus formation. http://purl.obolibrary.org/obo/DOID_0111362 hawkinsinuria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0070204 familial partial lipodystrophy type 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_11977 obsolete disorder of magnesium metabolism http://purl.obolibrary.org/obo/DOID_11181 serous glue ear http://purl.obolibrary.org/obo/DOID_11180 non-suppurative otitis media A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. http://purl.obolibrary.org/obo/DOID_0111363 Heinz body anemia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively. http://purl.obolibrary.org/obo/DOID_0070205 familial partial lipodystrophy type 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_11978 obsolete chronic pyelonephritis without lesion of renal medullary necrosis http://purl.obolibrary.org/obo/DOID_11186 allescheriosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. http://purl.obolibrary.org/obo/DOID_0111364 Alzheimer's disease 9 http://purl.obolibrary.org/obo/DOID_10652 Alzheimer's disease An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0111365 benign familial hematuria http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3. http://purl.obolibrary.org/obo/DOID_0070206 familial partial lipodystrophy type 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_11987 obsolete anorectal gonorrhea http://purl.obolibrary.org/obo/DOID_11190 pseudomembranous conjunctivitis http://purl.obolibrary.org/obo/DOID_11184 acute conjunctivitis A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. http://purl.obolibrary.org/obo/DOID_0111366 familial hepatic adenoma http://purl.obolibrary.org/obo/DOID_0050868 hepatocellular adenoma A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0070207 familial partial lipodystrophy type 1 http://purl.obolibrary.org/obo/DOID_0050440 familial partial lipodystrophy A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. http://purl.obolibrary.org/obo/DOID_12000 obsolete secondary malignant neoplasm of trachea http://purl.obolibrary.org/obo/DOID_11193 syndactyly http://purl.obolibrary.org/obo/DOID_11971 synostosis A synostosis that results_in the fusion of two or more digits. http://purl.obolibrary.org/obo/DOID_0111367 Beukes hip dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. http://purl.obolibrary.org/obo/DOID_0070208 hereditary lymphedema IC http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_12020 obsolete malignant neoplasm of corpus uteri, except isthmus http://purl.obolibrary.org/obo/DOID_11195 acute laryngopharyngitis http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease An upper respiratory tract disease which involves inflammation of both larynx and pharynx. http://purl.obolibrary.org/obo/DOID_0111368 cholesterol-ester transfer protein deficiency http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. http://purl.obolibrary.org/obo/DOID_0070209 hereditary lymphedema ID http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. http://purl.obolibrary.org/obo/DOID_12021 obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_11197 serous conjunctivitis except viral http://purl.obolibrary.org/obo/DOID_11184 acute conjunctivitis A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge. http://purl.obolibrary.org/obo/DOID_0111369 hyperalphalipoproteinemia 1 http://purl.obolibrary.org/obo/DOID_0111368 cholesterol-ester transfer protein deficiency A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. http://purl.obolibrary.org/obo/DOID_0070210 hereditary lymphedema IA http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_12022 obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease http://purl.obolibrary.org/obo/DOID_11198 DiGeorge syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. http://purl.obolibrary.org/obo/DOID_0111370 apolipoprotein C-III deficiency http://purl.obolibrary.org/obo/DOID_0111368 cholesterol-ester transfer protein deficiency A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_0070211 hereditary lymphedema IB http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. http://purl.obolibrary.org/obo/DOID_1204 obsolete arthropathy due to hypersensitivity reaction http://purl.obolibrary.org/obo/DOID_11199 hypoparathyroidism http://purl.obolibrary.org/obo/DOID_11201 parathyroid gland disease A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. http://purl.obolibrary.org/obo/DOID_0111371 isolated hyperchlorhidrosis http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. http://purl.obolibrary.org/obo/DOID_0070212 hereditary lymphedema I http://purl.obolibrary.org/obo/DOID_0050580 hereditary lymphedema A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. http://purl.obolibrary.org/obo/DOID_12040 obsolete immune hydrops fetalis http://purl.obolibrary.org/obo/DOID_12056 obsolete meningitis with clear cerebrospinal fluid http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. http://purl.obolibrary.org/obo/DOID_11201 parathyroid gland disease http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease that is located_in the parathyroid gland. http://purl.obolibrary.org/obo/DOID_0111373 familial progressive hyperpigmentation with or without hypopigmentation http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. http://purl.obolibrary.org/obo/DOID_0111374 selective pituitary thyroid hormone resistance http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. http://purl.obolibrary.org/obo/DOID_0070213 hereditary lymphedema II http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. http://purl.obolibrary.org/obo/DOID_0070214 familial hyperinsulinemic hypoglycemia 7 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. http://purl.obolibrary.org/obo/DOID_12058 obsolete Fetal-maternal hemorrhage affecting management of mother http://purl.obolibrary.org/obo/DOID_11202 primary hyperparathyroidism http://purl.obolibrary.org/obo/DOID_13543 hyperparathyroidism A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood. http://purl.obolibrary.org/obo/DOID_0111375 fetal akinesia deformation sequence syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. http://purl.obolibrary.org/obo/DOID_0070215 familial hyperinsulinemic hypoglycemia 4 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. http://purl.obolibrary.org/obo/DOID_12061 obsolete fetal blood loss http://purl.obolibrary.org/obo/DOID_11204 allergic conjunctivitis http://purl.obolibrary.org/obo/DOID_2475 chronic conjunctivitis A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. http://purl.obolibrary.org/obo/DOID_0111376 fetal akinesia deformation sequence syndrome 3 http://purl.obolibrary.org/obo/DOID_0111375 fetal akinesia deformation sequence syndrome A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. http://purl.obolibrary.org/obo/DOID_0070216 familial hyperinsulinemic hypoglycemia 3 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. http://purl.obolibrary.org/obo/DOID_12065 obsolete ganglioneuroma of the mediastinum http://purl.obolibrary.org/obo/DOID_11206 opioid abuse http://purl.obolibrary.org/obo/DOID_302 substance abuse A substance abuse that involves the recurring use of opioid drugs despite negative consequences. http://purl.obolibrary.org/obo/DOID_11211 buphthalmos http://purl.obolibrary.org/obo/DOID_11212 hydrophthalmos A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. http://purl.obolibrary.org/obo/DOID_11212 hydrophthalmos http://purl.obolibrary.org/obo/DOID_0050593 primary congenital glaucoma A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. http://purl.obolibrary.org/obo/DOID_0111377 fetal akinesia deformation sequence syndrome 1 http://purl.obolibrary.org/obo/DOID_0111375 fetal akinesia deformation sequence syndrome A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. http://purl.obolibrary.org/obo/DOID_0070217 familial hyperinsulinemic hypoglycemia 6 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. http://purl.obolibrary.org/obo/DOID_12076 obsolete interstitial emphysema and related conditions of newborn http://purl.obolibrary.org/obo/DOID_12091 obsolete vitamin A deficiency with corneal xerosis http://purl.obolibrary.org/obo/DOID_11213 acute contagious conjunctivitis http://purl.obolibrary.org/obo/DOID_11184 acute conjunctivitis A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus. http://purl.obolibrary.org/obo/DOID_0111378 fetal akinesia deformation sequence syndrome 2 http://purl.obolibrary.org/obo/DOID_0111375 fetal akinesia deformation sequence syndrome A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_0070218 familial hyperinsulinemic hypoglycemia 2 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. http://purl.obolibrary.org/obo/DOID_12092 obsolete Galactorrhea associated with childbirth http://purl.obolibrary.org/obo/DOID_11219 conjunctival folliculosis http://purl.obolibrary.org/obo/DOID_11184 acute conjunctivitis An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae. http://purl.obolibrary.org/obo/DOID_0111379 fetal akinesia deformation sequence syndrome 4 http://purl.obolibrary.org/obo/DOID_0111375 fetal akinesia deformation sequence syndrome A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0070219 familial hyperinsulinemic hypoglycemia 1 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_12097 obsolete rat-bite fever http://purl.obolibrary.org/obo/DOID_11227 acute hemorrhagic conjunctivitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 (Enterovirus coxsackiepol) or has_material_basis_in Human enterovirus 70 (Enterovirus deconjuncti), which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis. http://purl.obolibrary.org/obo/DOID_0111380 solitary median maxillary central incisor http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. http://purl.obolibrary.org/obo/DOID_0070220 familial hyperinsulinemic hypoglycemia 5 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_12104 obsolete vitamin A deficiency with corneal xerosis and ulcer http://purl.obolibrary.org/obo/DOID_11231 orbital periostitis http://purl.obolibrary.org/obo/DOID_11230 acute orbital inflammation An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit. http://purl.obolibrary.org/obo/DOID_0111381 IVIC syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis http://purl.obolibrary.org/obo/DOID_1852 intrahepatic cholestasis An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. http://purl.obolibrary.org/obo/DOID_12106 obsolete tricuspid valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_11232 orbital osteomyelitis http://purl.obolibrary.org/obo/DOID_11230 acute orbital inflammation An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum. http://purl.obolibrary.org/obo/DOID_11233 orbital tenonitis http://purl.obolibrary.org/obo/DOID_11230 acute orbital inflammation An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon. http://purl.obolibrary.org/obo/DOID_0111382 ischiocoxopodopatellar syndrome http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. http://purl.obolibrary.org/obo/DOID_0070222 progressive familial intrahepatic cholestasis 2 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_12107 obsolete primary retinal cyst http://purl.obolibrary.org/obo/DOID_11234 orbital cellulitis http://purl.obolibrary.org/obo/DOID_11230 acute orbital inflammation An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision. http://purl.obolibrary.org/obo/DOID_0111383 autosomal dominant keratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_0070223 progressive familial intrahepatic cholestasis 3 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. http://purl.obolibrary.org/obo/DOID_0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 http://purl.obolibrary.org/obo/DOID_0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. http://purl.obolibrary.org/obo/DOID_12111 obsolete vitamin A deficiency with xerophthalmic corneal scar http://purl.obolibrary.org/obo/DOID_11235 adhesive otitis media http://purl.obolibrary.org/obo/DOID_2742 auditory system disease An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. http://purl.obolibrary.org/obo/DOID_0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 http://purl.obolibrary.org/obo/DOID_0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_0070224 progressive familial intrahepatic cholestasis 4 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_12113 obsolete nerve deafness http://purl.obolibrary.org/obo/DOID_11239 appendix cancer http://purl.obolibrary.org/obo/DOID_60000 appendix disease A intestinal cancer that is located_in the appendix. http://purl.obolibrary.org/obo/DOID_0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 http://purl.obolibrary.org/obo/DOID_0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0070225 progressive familial intrahepatic cholestasis 5 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. http://purl.obolibrary.org/obo/DOID_12121 obsolete secondary syphilitic periostitis http://purl.obolibrary.org/obo/DOID_11243 anemia of prematurity http://purl.obolibrary.org/obo/DOID_11244 neonatal anemia A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks. http://purl.obolibrary.org/obo/DOID_0111387 familial isolated hypoparathyroidism http://purl.obolibrary.org/obo/DOID_11199 hypoparathyroidism A hypoparathyroidism characterized by by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects. http://purl.obolibrary.org/obo/DOID_0070226 progressive familial intrahepatic cholestasis 1 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_1213 obsolete Tympanosclerosis of tympanic membrane and ossicles http://purl.obolibrary.org/obo/DOID_11244 neonatal anemia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia that is characterized by a lower red blood cell count than normal in neonates. http://purl.obolibrary.org/obo/DOID_0111388 X-linked hypoparathyroidism http://purl.obolibrary.org/obo/DOID_11199 hypoparathyroidism A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. http://purl.obolibrary.org/obo/DOID_0070227 intrahepatic cholestasis of pregnancy http://purl.obolibrary.org/obo/DOID_1852 intrahepatic cholestasis An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. http://purl.obolibrary.org/obo/DOID_12135 obsolete acquired factor VIII deficiency http://purl.obolibrary.org/obo/DOID_11249 vitamin K deficiency bleeding http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications. http://purl.obolibrary.org/obo/DOID_0111389 mucopolysaccharidosis Ih/s http://purl.obolibrary.org/obo/DOID_12802 mucopolysaccharidosis I A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. http://purl.obolibrary.org/obo/DOID_0070228 intrahepatic cholestasis of pregnancy 1 http://purl.obolibrary.org/obo/DOID_0070227 intrahepatic cholestasis of pregnancy An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_12136 obsolete acquired coagulation factor deficiency http://purl.obolibrary.org/obo/DOID_11252 microcytic anemia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear. http://purl.obolibrary.org/obo/DOID_0111390 mucopolysaccharidosis Ih http://purl.obolibrary.org/obo/DOID_12802 mucopolysaccharidosis I A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. http://purl.obolibrary.org/obo/DOID_0070229 intrahepatic cholestasis of pregnancy 3 http://purl.obolibrary.org/obo/DOID_0070227 intrahepatic cholestasis of pregnancy An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0070230 benign recurrent intrahepatic cholestasis http://purl.obolibrary.org/obo/DOID_1852 intrahepatic cholestasis An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. http://purl.obolibrary.org/obo/DOID_1215 obsolete Tympanosclerosis of tympanic membrane only http://purl.obolibrary.org/obo/DOID_11254 Brill-Zinsser disease http://purl.obolibrary.org/obo/DOID_0050480 epidemic typhus An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. http://purl.obolibrary.org/obo/DOID_0111391 mucopolysaccharidosis IVA http://purl.obolibrary.org/obo/DOID_12804 mucopolysaccharidosis IV A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. http://purl.obolibrary.org/obo/DOID_0070231 benign recurrent intrahepatic cholestasis 1 http://purl.obolibrary.org/obo/DOID_0070230 benign recurrent intrahepatic cholestasis A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. http://purl.obolibrary.org/obo/DOID_12150 obsolete calculus of gallbladder with acute cholecystitis, with obstruction http://purl.obolibrary.org/obo/DOID_11256 typhus http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites. http://purl.obolibrary.org/obo/DOID_0111392 mucopolysaccharidosis type IVB http://purl.obolibrary.org/obo/DOID_12804 mucopolysaccharidosis IV A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. http://purl.obolibrary.org/obo/DOID_0070232 benign recurrent intrahepatic cholestasis 2 http://purl.obolibrary.org/obo/DOID_0070230 benign recurrent intrahepatic cholestasis A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_12151 obsolete currently pregnant habitual aborter http://purl.obolibrary.org/obo/DOID_11257 social phobia http://purl.obolibrary.org/obo/DOID_591 phobic disorder A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. http://purl.obolibrary.org/obo/DOID_11258 cat-scratch disease http://purl.obolibrary.org/obo/DOID_9942 lymph node disease A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. http://purl.obolibrary.org/obo/DOID_0111393 mucopolysaccharidosis type IIIC http://purl.obolibrary.org/obo/DOID_12801 mucopolysaccharidosis III A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. http://purl.obolibrary.org/obo/DOID_0070233 Loeys-Dietz syndrome 4 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. http://purl.obolibrary.org/obo/DOID_12180 obsolete Fetal Macrosomia http://purl.obolibrary.org/obo/DOID_0070234 Loeys-Dietz syndrome 2 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. http://purl.obolibrary.org/obo/DOID_0070235 Loeys-Dietz syndrome 1 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_11260 rabies http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in viruses in the genus Lyssavirus, which are transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. Most human cases of rabies are caused by the Rabies virus (Lyssavirus rabies) transmitted from dogs. http://purl.obolibrary.org/obo/DOID_0111394 mucopolysaccharidosis type IIIB http://purl.obolibrary.org/obo/DOID_12801 mucopolysaccharidosis III A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_12189 obsolete metastatic tumor to the colon http://purl.obolibrary.org/obo/DOID_0070236 Loeys-Dietz syndrome 5 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_11262 ornithosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. http://purl.obolibrary.org/obo/DOID_0111395 mucopolysaccharidosis type IIIA http://purl.obolibrary.org/obo/DOID_12801 mucopolysaccharidosis III A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_12204 obsolete catatonic schizophrenia in remission http://purl.obolibrary.org/obo/DOID_0070237 Loeys-Dietz syndrome 3 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. http://purl.obolibrary.org/obo/DOID_11263 chlamydia http://purl.obolibrary.org/obo/DOID_0050339 commensal bacterial infectious disease A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. http://purl.obolibrary.org/obo/DOID_0111396 congenital dyserythropoietic anemia type I http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. http://purl.obolibrary.org/obo/DOID_12221 obsolete Synovial, tendon or bursa disorder http://purl.obolibrary.org/obo/DOID_12223 obsolete specific bursitis often of occupational origin http://purl.obolibrary.org/obo/DOID_0070238 primary coenzyme Q10 deficiency 1 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. http://purl.obolibrary.org/obo/DOID_11265 trachoma http://purl.obolibrary.org/obo/DOID_5614 eye disease A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. http://purl.obolibrary.org/obo/DOID_0111397 congenital dyserythropoietic anemia type Ib http://purl.obolibrary.org/obo/DOID_0111396 congenital dyserythropoietic anemia type I A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_12224 obsolete calcium deposits in tendon and bursa http://purl.obolibrary.org/obo/DOID_0070239 primary coenzyme Q10 deficiency 2 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. http://purl.obolibrary.org/obo/DOID_11266 Hantavirus hemorrhagic fever with renal syndrome http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. http://purl.obolibrary.org/obo/DOID_0111398 congenital dyserythropoietic anemia type Ia http://purl.obolibrary.org/obo/DOID_0111396 congenital dyserythropoietic anemia type I A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2. http://purl.obolibrary.org/obo/DOID_12226 obsolete hearing disease http://purl.obolibrary.org/obo/DOID_0070240 primary coenzyme Q10 deficiency 3 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_11285 tick paralysis http://purl.obolibrary.org/obo/DOID_4109 tick infestation A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. http://purl.obolibrary.org/obo/DOID_0111399 congenital dyserythropoietic anemia type IIIa http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23. http://purl.obolibrary.org/obo/DOID_12228 obsolete secondary malignant neoplasm of large intestine and rectum http://purl.obolibrary.org/obo/DOID_0070241 primary coenzyme Q10 deficiency 4 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. http://purl.obolibrary.org/obo/DOID_11289 ventilation pneumonitis http://purl.obolibrary.org/obo/DOID_841 extrinsic allergic alveolitis An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. http://purl.obolibrary.org/obo/DOID_0111400 congenital dyserythropoietic anemia type IVa http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. http://purl.obolibrary.org/obo/DOID_12251 obsolete hypoaldosteronism http://purl.obolibrary.org/obo/DOID_0070242 primary coenzyme Q10 deficiency 5 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_11294 arteriovenous malformation http://purl.obolibrary.org/obo/DOID_255 hemangioma A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. http://purl.obolibrary.org/obo/DOID_0111401 congenital dyserythropoietic anemia type II http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. http://purl.obolibrary.org/obo/DOID_12254 obsolete metastatic tumor to the testis http://purl.obolibrary.org/obo/DOID_0070243 primary coenzyme Q10 deficiency 6 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_11302 cercarial dermatitis http://purl.obolibrary.org/obo/DOID_37 skin disease A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection. http://purl.obolibrary.org/obo/DOID_0111402 mucopolysaccharidosis type IIID http://purl.obolibrary.org/obo/DOID_12801 mucopolysaccharidosis III A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. http://purl.obolibrary.org/obo/DOID_12255 obsolete congenital adrenal hyperplasia http://purl.obolibrary.org/obo/DOID_12256 obsolete adrenogenital disease http://purl.obolibrary.org/obo/DOID_0070244 primary coenzyme Q10 deficiency 7 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. http://purl.obolibrary.org/obo/DOID_11315 African histoplasmosis http://purl.obolibrary.org/obo/DOID_1731 histoplasmosis A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions. http://purl.obolibrary.org/obo/DOID_0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. http://purl.obolibrary.org/obo/DOID_12258 obsolete acquired factor IX deficiency http://purl.obolibrary.org/obo/DOID_0070245 primary coenzyme Q10 deficiency 8 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. http://purl.obolibrary.org/obo/DOID_11320 Kyasanur forest disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus (Orthoflavivirus kyasanurense), which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems. http://purl.obolibrary.org/obo/DOID_0111404 Jalili syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2. http://purl.obolibrary.org/obo/DOID_12268 obsolete eclampsia with delivery http://purl.obolibrary.org/obo/DOID_0070246 X-linked Emery-Dreifuss muscular dystrophy 1 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_11328 schizophreniform disorder http://purl.obolibrary.org/obo/DOID_2468 psychotic disorder A psychotic disorder that involves schizophrenia symptoms over time period of one month. http://purl.obolibrary.org/obo/DOID_0111405 Fraser syndrome 1 http://purl.obolibrary.org/obo/DOID_0090001 Fraser syndrome A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. http://purl.obolibrary.org/obo/DOID_12269 obsolete Toxemia with convulsions complicating pregnancy, childbirth or the puerperium http://purl.obolibrary.org/obo/DOID_0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_11329 ainhum http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. http://purl.obolibrary.org/obo/DOID_0111406 Fraser syndrome 3 http://purl.obolibrary.org/obo/DOID_0090001 Fraser syndrome A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3. http://purl.obolibrary.org/obo/DOID_12274 obsolete anisometropia and aniseikonia http://purl.obolibrary.org/obo/DOID_0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. http://purl.obolibrary.org/obo/DOID_11335 sarcoidosis http://purl.obolibrary.org/obo/DOID_2916 hypersensitivity reaction type IV disease A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. http://purl.obolibrary.org/obo/DOID_0111407 Fraser syndrome 2 http://purl.obolibrary.org/obo/DOID_0090001 Fraser syndrome A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3. http://purl.obolibrary.org/obo/DOID_1228 obsolete paranoid type schizophrenia in remission http://purl.obolibrary.org/obo/DOID_0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. http://purl.obolibrary.org/obo/DOID_11336 rhinoscleroma http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. http://purl.obolibrary.org/obo/DOID_0111408 exudative vitreoretinopathy 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31. http://purl.obolibrary.org/obo/DOID_12284 obsolete maternal pyrexia in labor http://purl.obolibrary.org/obo/DOID_0070251 X-linked Emery-Dreifuss muscular dystrophy 6 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. http://purl.obolibrary.org/obo/DOID_11337 Lemierre's syndrome http://purl.obolibrary.org/obo/DOID_0050339 commensal bacterial infectious disease A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. http://purl.obolibrary.org/obo/DOID_0111409 exudative vitreoretinopathy 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12. http://purl.obolibrary.org/obo/DOID_12292 obsolete recurrent malignant endocervical neoplasm http://purl.obolibrary.org/obo/DOID_0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/DOID_11338 tetanus http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. http://purl.obolibrary.org/obo/DOID_0111410 exudative vitreoretinopathy 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_12301 obsolete speckled lentiginous nevus http://purl.obolibrary.org/obo/DOID_1231 obsolete chronic schizophrenia http://purl.obolibrary.org/obo/DOID_1232 obsolete paranoid type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_12324 obsolete transsexuality with homosexual history http://purl.obolibrary.org/obo/DOID_0070253 congenital disorder of glycosylation type IIa http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. http://purl.obolibrary.org/obo/DOID_11339 pneumocystosis http://purl.obolibrary.org/obo/DOID_850 lung disease An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever. http://purl.obolibrary.org/obo/DOID_0111411 exudative vitreoretinopathy 4 http://purl.obolibrary.org/obo/DOID_0050739 autosomal genetic disease An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0111412 exudative vitreoretinopathy 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2. http://purl.obolibrary.org/obo/DOID_0111413 X-linked exudative vitreoretinopathy 2 http://purl.obolibrary.org/obo/DOID_0050735 X-linked monogenic disease An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_12338 obsolete redundant prepuce and phimosis http://purl.obolibrary.org/obo/DOID_0070254 congenital disorder of glycosylation type IIb http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. http://purl.obolibrary.org/obo/DOID_11343 scleral disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball. http://purl.obolibrary.org/obo/DOID_0070255 congenital disorder of glycosylation type IIc http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_0111414 trichohepatoenteric syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. http://purl.obolibrary.org/obo/DOID_12346 obsolete hyperkinetic heart syndrome http://purl.obolibrary.org/obo/DOID_11353 bladder diverticulum http://purl.obolibrary.org/obo/DOID_365 bladder disease A bladder disease characterized by protrusion of the bladder urothelium and mucosa via muscle fibers of the bladder wall which results in one or more thin-walled structures connected to the bladder lumen. http://purl.obolibrary.org/obo/DOID_0070256 congenital disorder of glycosylation type IId http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. http://purl.obolibrary.org/obo/DOID_0111415 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/DOID_0111414 trichohepatoenteric syndrome A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15. http://purl.obolibrary.org/obo/DOID_12356 obsolete bacterial prostatitis http://purl.obolibrary.org/obo/DOID_11360 phlebotomus fever http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus (Phlebovirus napoliense) or Sandfly fever sicilian virus (Phlebovirus siciliaense), which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia. http://purl.obolibrary.org/obo/DOID_0070257 congenital disorder of glycosylation type IIe http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. http://purl.obolibrary.org/obo/DOID_0111416 trichohepatoenteric syndrome 2 http://purl.obolibrary.org/obo/DOID_0111414 trichohepatoenteric syndrome A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_12378 obsolete predominant psychomotor disturbance http://purl.obolibrary.org/obo/DOID_11372 megacolon http://purl.obolibrary.org/obo/DOID_5353 colonic disease A colonic disease that is characterized by an abnormal dilation of the colon. http://purl.obolibrary.org/obo/DOID_0070258 congenital disorder of glycosylation type IIf http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. http://purl.obolibrary.org/obo/DOID_12379 obsolete mixed disorder as reaction to stress http://purl.obolibrary.org/obo/DOID_11379 gnathomiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. http://purl.obolibrary.org/obo/DOID_0070259 congenital disorder of glycosylation type IIg http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_0111418 familial apolipoprotein C-II deficiency http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/DOID_1238 obsolete acute erythremia and erythroleukemia in remission http://purl.obolibrary.org/obo/DOID_11385 expressive language disorder http://purl.obolibrary.org/obo/DOID_93 language disorder A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. http://purl.obolibrary.org/obo/DOID_0070260 congenital disorder of glycosylation type IIh http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase. http://purl.obolibrary.org/obo/DOID_12380 obsolete predominant disturbance of consciousness http://purl.obolibrary.org/obo/DOID_11387 epidural abscess http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). http://purl.obolibrary.org/obo/DOID_0070261 congenital disorder of glycosylation type IIi http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. http://purl.obolibrary.org/obo/DOID_0111420 familial GPIHBP1 deficiency http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. http://purl.obolibrary.org/obo/DOID_1239 obsolete acute erythremia and erythroleukemia http://purl.obolibrary.org/obo/DOID_11389 subdural empyema http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space. http://purl.obolibrary.org/obo/DOID_0070262 congenital disorder of glycosylation type IIj http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0111421 familial apolipoprotein A5 deficiency http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_12392 obsolete leukemic reticuloendotheliosis involving lymph nodes of head, face and neck http://purl.obolibrary.org/obo/DOID_11394 adult respiratory distress syndrome http://purl.obolibrary.org/obo/DOID_11162 respiratory failure A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. http://purl.obolibrary.org/obo/DOID_0070263 congenital disorder of glycosylation type IIk http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. http://purl.obolibrary.org/obo/DOID_0111422 familial lipase maturation factor 1 deficiency http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_12396 obsolete entropion and trichiasis of eyelid http://purl.obolibrary.org/obo/DOID_11396 pulmonary edema http://purl.obolibrary.org/obo/DOID_11162 respiratory failure A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. http://purl.obolibrary.org/obo/DOID_0070264 congenital disorder of glycosylation type IIl http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. http://purl.obolibrary.org/obo/DOID_0111423 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/DOID_14702 branchiootorenal syndrome A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3. http://purl.obolibrary.org/obo/DOID_12417 obsolete psychogenic dysmenorrhea http://purl.obolibrary.org/obo/DOID_114 heart disease http://purl.obolibrary.org/obo/DOID_1287 cardiovascular system disease A cardiovascular system disease that involves the heart. http://purl.obolibrary.org/obo/DOID_0070265 congenital disorder of glycosylation type IIm http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0111424 branchiootorenal syndrome 2 http://purl.obolibrary.org/obo/DOID_14702 branchiootorenal syndrome A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/DOID_12448 obsolete hematologic pregnancy complication http://purl.obolibrary.org/obo/DOID_11405 diphtheria http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. http://purl.obolibrary.org/obo/DOID_0070266 congenital disorder of glycosylation type IIn http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_0111425 familial restrictive cardiomyopathy 1 http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42. http://purl.obolibrary.org/obo/DOID_1249 obsolete Conjunctival vascular disorder and cysts http://purl.obolibrary.org/obo/DOID_11424 fallopian tube endometriosis http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube. http://purl.obolibrary.org/obo/DOID_0070267 congenital disorder of glycosylation type IIo http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. http://purl.obolibrary.org/obo/DOID_0111426 familial restrictive cardiomyopathy 2 http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3. http://purl.obolibrary.org/obo/DOID_12508 obsolete simple type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_12525 obsolete Lateral cutaneous femoral nerve of thigh compression or syndrome http://purl.obolibrary.org/obo/DOID_11427 endosalpingiosis http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube. http://purl.obolibrary.org/obo/DOID_0070268 congenital disorder of glycosylation type IIp http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. http://purl.obolibrary.org/obo/DOID_0111427 familial restrictive cardiomyopathy 3 http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1. http://purl.obolibrary.org/obo/DOID_12538 obsolete Chlamydia trachomatis pharyngitis http://purl.obolibrary.org/obo/DOID_0070269 congenital disorder of glycosylation type IIq http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. http://purl.obolibrary.org/obo/DOID_11428 endometriosis of intestine http://purl.obolibrary.org/obo/DOID_5295 intestinal disease A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine. http://purl.obolibrary.org/obo/DOID_0111428 essential tremor 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31. http://purl.obolibrary.org/obo/DOID_0111429 essential tremor 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22. http://purl.obolibrary.org/obo/DOID_12539 obsolete Chlamydia trachomatis proctitis http://purl.obolibrary.org/obo/DOID_0070270 hereditary nonpolyposis colorectal cancer type 8 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM. http://purl.obolibrary.org/obo/DOID_11429 endometriosis of pelvic peritoneum http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum. http://purl.obolibrary.org/obo/DOID_0111430 essential tremor 3 http://purl.obolibrary.org/obo/DOID_4990 essential tremor An essential tremor that has_material_basis_in variation in a region on chromosome 6p23. http://purl.obolibrary.org/obo/DOID_12541 obsolete catatonic type schizophrenia subchronic state http://purl.obolibrary.org/obo/DOID_0070271 Lynch syndrome 1 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. http://purl.obolibrary.org/obo/DOID_11430 endometriosis in scar of skin http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin. http://purl.obolibrary.org/obo/DOID_0111431 essential tremor 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_12542 obsolete catatonic type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_0111432 essential tremor 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_12543 obsolete catatonic type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_0070272 hereditary nonpolyposis colorectal cancer type 5 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. http://purl.obolibrary.org/obo/DOID_0070273 hereditary nonpolyposis colorectal cancer type 6 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_0070274 hereditary nonpolyposis colorectal cancer type 2 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2. http://purl.obolibrary.org/obo/DOID_11431 endometriosis of rectovaginal septum and vagina http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina. http://purl.obolibrary.org/obo/DOID_12551 obsolete Escherichia coli septicemia http://purl.obolibrary.org/obo/DOID_0111433 optic atrophy 3 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/DOID_0070275 hereditary nonpolyposis colorectal cancer type 4 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_11432 endometriosis of ovary http://purl.obolibrary.org/obo/DOID_289 endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary. http://purl.obolibrary.org/obo/DOID_12555 obsolete acute renal failure with lesion of renal cortical necrosis http://purl.obolibrary.org/obo/DOID_0111434 optic atrophy 10 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_0070276 hereditary nonpolyposis colorectal cancer type 7 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_11450 allergic cutaneous vasculitis http://purl.obolibrary.org/obo/DOID_9809 hypersensitivity vasculitis A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. http://purl.obolibrary.org/obo/DOID_1257 obsolete Transient hypertension of pregnancy http://purl.obolibrary.org/obo/DOID_0111435 optic atrophy 6 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. http://purl.obolibrary.org/obo/DOID_0070277 primary autosomal recessive microcephaly 15 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_11457 brain compression http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain. http://purl.obolibrary.org/obo/DOID_0070278 primary autosomal recessive microcephaly 7 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33. http://purl.obolibrary.org/obo/DOID_0070279 primary autosomal recessive microcephaly 14 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_12582 obsolete enthesopathy of elbow http://purl.obolibrary.org/obo/DOID_0111436 optic atrophy 11 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease A peripheral nervous system disease that is located_in the autonomic nervous system. http://purl.obolibrary.org/obo/DOID_0070280 primary autosomal recessive microcephaly 5 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_12584 obsolete Diabetes mellitus of mother, with delivery http://purl.obolibrary.org/obo/DOID_0111437 optic atrophy 7 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_11476 osteoporosis http://purl.obolibrary.org/obo/DOID_0080011 bone resorption disease A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. http://purl.obolibrary.org/obo/DOID_0070281 primary autosomal recessive microcephaly 19 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_12604 obsolete secondary malignant neoplasm of suprarenal gland http://purl.obolibrary.org/obo/DOID_0111438 optic atrophy 5 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. http://purl.obolibrary.org/obo/DOID_1148 polydactyly http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. http://purl.obolibrary.org/obo/DOID_0070282 primary autosomal recessive microcephaly 8 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. http://purl.obolibrary.org/obo/DOID_12605 obsolete metastasis to adrenals http://purl.obolibrary.org/obo/DOID_0111439 optic atrophy 8 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22. http://purl.obolibrary.org/obo/DOID_11482 hemopericardium http://purl.obolibrary.org/obo/DOID_118 pericardial effusion A pericardial effusion that results from blood in the pericardial sac. http://purl.obolibrary.org/obo/DOID_0070283 primary autosomal recessive microcephaly 13 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_1261 obsolete AIDS-related pelvic inflammatory disease http://purl.obolibrary.org/obo/DOID_0111440 optic atrophy 4 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3. http://purl.obolibrary.org/obo/DOID_0111441 optic atrophy 1 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_11486 Horner's syndrome http://purl.obolibrary.org/obo/DOID_11504 autonomic neuropathy An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics. http://purl.obolibrary.org/obo/DOID_0070284 primary autosomal recessive microcephaly 12 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_12610 obsolete adrenal hemorrhage of fetus or newborn http://purl.obolibrary.org/obo/DOID_12612 obsolete gastrointestinal hemorrhage of fetus or newborn http://purl.obolibrary.org/obo/DOID_0111442 optic atrophy 9 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_11491 acquired night blindness http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated. http://purl.obolibrary.org/obo/DOID_0070285 primary autosomal recessive microcephaly 1 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. http://purl.obolibrary.org/obo/DOID_12647 obsolete Congenital or acquired abnormality of vulva, with delivery http://purl.obolibrary.org/obo/DOID_0111443 optic atrophy 2 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21. http://purl.obolibrary.org/obo/DOID_115 cardiac tamponade http://purl.obolibrary.org/obo/DOID_118 pericardial effusion A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. http://purl.obolibrary.org/obo/DOID_0070286 primary autosomal recessive microcephaly 3 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. http://purl.obolibrary.org/obo/DOID_0070287 primary autosomal recessive microcephaly 11 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_12651 obsolete disorder of optic chiasm associated with inflammatory disorder http://purl.obolibrary.org/obo/DOID_0111444 progressive myoclonus epilepsy 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. http://purl.obolibrary.org/obo/DOID_11506 suppurative otitis media http://purl.obolibrary.org/obo/DOID_10754 otitis media A otitis media which involves inflammation of the middle ear with infected effusion containing pus. http://purl.obolibrary.org/obo/DOID_0070288 primary autosomal recessive microcephaly 17 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_12670 obsolete fusion with defective stereopsis http://purl.obolibrary.org/obo/DOID_0111445 progressive myoclonus epilepsy 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. http://purl.obolibrary.org/obo/DOID_11507 rumination disorder http://purl.obolibrary.org/obo/DOID_8670 eating disorder An eating disorder that is characterized by effortless regurgitation of most meals following consumption. http://purl.obolibrary.org/obo/DOID_0070289 primary autosomal recessive microcephaly 16 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_1269 obsolete thyroid gland tuberculosis http://purl.obolibrary.org/obo/DOID_0111446 progressive myoclonus epilepsy 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. http://purl.obolibrary.org/obo/DOID_11512 Budd-Chiari syndrome http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. http://purl.obolibrary.org/obo/DOID_0111447 progressive myoclonus epilepsy 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. http://purl.obolibrary.org/obo/DOID_0070290 primary autosomal recessive microcephaly 6 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_12694 obsolete hyperemesis gravidarum with metabolic disturbance http://purl.obolibrary.org/obo/DOID_11516 hypertensive heart disease http://purl.obolibrary.org/obo/DOID_114 heart disease A heart disease that is caused by high blood pressure. http://purl.obolibrary.org/obo/DOID_0111448 progressive myoclonus epilepsy 1B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. http://purl.obolibrary.org/obo/DOID_0070291 primary autosomal recessive microcephaly 4 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_12702 obsolete Rotator cuff shoulder syndrome and allied disorder http://purl.obolibrary.org/obo/DOID_11549 Adie syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. http://purl.obolibrary.org/obo/DOID_0111449 progressive myoclonus epilepsy 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. http://purl.obolibrary.org/obo/DOID_0070292 primary autosomal recessive microcephaly 9 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_12713 obsolete medullary sponge kidney http://purl.obolibrary.org/obo/DOID_11554 Chandler syndrome http://purl.obolibrary.org/obo/DOID_2566 corneal dystrophy A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma. http://purl.obolibrary.org/obo/DOID_0111450 progressive myoclonus epilepsy 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_12715 obsolete infectious myositis http://purl.obolibrary.org/obo/DOID_11555 Fuchs' endothelial dystrophy http://purl.obolibrary.org/obo/DOID_0060443 corneal endothelial dystrophy A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. http://purl.obolibrary.org/obo/DOID_0111451 progressive myoclonus epilepsy 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_0070294 primary autosomal recessive microcephaly 10 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_12722 obsolete liver metastasis http://purl.obolibrary.org/obo/DOID_11557 acute serous otitis media http://purl.obolibrary.org/obo/DOID_3697 acute transudative otitis media A acute transudative otitis media with thin, watery and sterile effusion. http://purl.obolibrary.org/obo/DOID_0111452 progressive myoclonus epilepsy 1A http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_0070295 primary autosomal dominant microcephaly 18 http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. http://purl.obolibrary.org/obo/DOID_12723 obsolete lung carcinoma metastatic to the liver http://purl.obolibrary.org/obo/DOID_12724 obsolete breast arcinoma metastatic to the liver http://purl.obolibrary.org/obo/DOID_11558 acute allergic serous otitis media http://purl.obolibrary.org/obo/DOID_1205 allergic disease A acute serous otitis media caused by an allergen. http://purl.obolibrary.org/obo/DOID_0111453 2-aminoadipic 2-oxoadipic aciduria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly http://purl.obolibrary.org/obo/DOID_0070297 primary microcephaly A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. http://purl.obolibrary.org/obo/DOID_12727 obsolete retroverted incarcerated gravid uterus http://purl.obolibrary.org/obo/DOID_1156 chondrocalcinosis http://purl.obolibrary.org/obo/DOID_848 arthritis An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. http://purl.obolibrary.org/obo/DOID_0111454 SHORT syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_0111455 GRACILE syndrome http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_0070297 primary microcephaly http://purl.obolibrary.org/obo/DOID_10907 microcephaly A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. http://purl.obolibrary.org/obo/DOID_12758 obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid http://purl.obolibrary.org/obo/DOID_11563 retinal vasculitis http://purl.obolibrary.org/obo/DOID_865 vasculitis A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images. http://purl.obolibrary.org/obo/DOID_0111456 Kaufman oculocerebrofacial syndrome http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. http://purl.obolibrary.org/obo/DOID_0070298 multiple epiphyseal dysplasia 2 http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_12784 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations http://purl.obolibrary.org/obo/DOID_11569 neurocirculatory asthenia http://purl.obolibrary.org/obo/DOID_4737 somatoform disorder A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities. http://purl.obolibrary.org/obo/DOID_0111457 STING-associated vasculopathy with onset in infancy http://purl.obolibrary.org/obo/DOID_0060051 autoimmune disease of cardiovascular system An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0070299 multiple epiphyseal dysplasia 5 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. http://purl.obolibrary.org/obo/DOID_12796 obsolete Posterior synechiae http://purl.obolibrary.org/obo/DOID_11572 Listeria meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection. http://purl.obolibrary.org/obo/DOID_0111458 galactose epimerase deficiency http://purl.obolibrary.org/obo/DOID_9870 galactosemia A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. http://purl.obolibrary.org/obo/DOID_0111459 classic galactosemia http://purl.obolibrary.org/obo/DOID_9870 galactosemia A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_0070300 multiple epiphyseal dysplasia 4 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_128 obsolete vaginal soft tissue tumor http://purl.obolibrary.org/obo/DOID_11573 listeriosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. http://purl.obolibrary.org/obo/DOID_0111460 cardiofaciocutaneous syndrome 1 http://purl.obolibrary.org/obo/DOID_0060233 cardiofaciocutaneous syndrome A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0070301 multiple epiphyseal dysplasia 6 http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. http://purl.obolibrary.org/obo/DOID_12838 obsolete secondary thyroid hyperplasia http://purl.obolibrary.org/obo/DOID_11574 streptococcal meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis A bacterial meningitis that has_material_basis_in streptococcal bacteria. http://purl.obolibrary.org/obo/DOID_11577 Cauda equina syndrome http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. http://purl.obolibrary.org/obo/DOID_0111461 cardiofaciocutaneous syndrome 2 http://purl.obolibrary.org/obo/DOID_0060233 cardiofaciocutaneous syndrome A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. http://purl.obolibrary.org/obo/DOID_0070302 multiple epiphyseal dysplasia 7 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_12839 obsolete thyrotoxicosis from ectopic thyroid nodule http://purl.obolibrary.org/obo/DOID_11589 familial dysautonomia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by progressive degeneration of sensory and autonomic neurons with congenital or neonatal onset resulting in impaired pain and temperature perception and profound dysautonomia that has_material_basis_in homozygous or compound heterozygous mutation in the ELP1 gene on chromosome 9q31. Common signs and symptoms include gastrointestinal dysfunction with vomiting crises, recurrent aspiration pneumonia, altered sensitivity to pain and temperature, extreme blood pressure variability with postural hypotension, hypotonia, decreased or absent deep tendon reflexes, decreased taste and absence of fungiform papillae of the tongue, alacrima, and early or sudden death. http://purl.obolibrary.org/obo/DOID_0111462 cardiofaciocutaneous syndrome 3 http://purl.obolibrary.org/obo/DOID_0060233 cardiofaciocutaneous syndrome A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. http://purl.obolibrary.org/obo/DOID_0070303 multiple epiphyseal dysplasia 1 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_12843 obsolete polyneuritis http://purl.obolibrary.org/obo/DOID_11599 Frey syndrome http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways. http://purl.obolibrary.org/obo/DOID_0111463 cardiofaciocutaneous syndrome 4 http://purl.obolibrary.org/obo/DOID_0060233 cardiofaciocutaneous syndrome A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0111464 combined oxidative phosphorylation deficiency 35 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. http://purl.obolibrary.org/obo/DOID_0111465 combined oxidative phosphorylation deficiency 21 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. http://purl.obolibrary.org/obo/DOID_0070304 multiple epiphyseal dysplasia 3 http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_12852 obsolete adhesions of drum head to incus http://purl.obolibrary.org/obo/DOID_11603 infant gynecomastia http://purl.obolibrary.org/obo/DOID_3463 breast disease A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age. http://purl.obolibrary.org/obo/DOID_0111466 combined oxidative phosphorylation deficiency 38 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). http://purl.obolibrary.org/obo/DOID_12853 obsolete adhesions of drum head to promontorium http://purl.obolibrary.org/obo/DOID_11608 fungal meningitis http://purl.obolibrary.org/obo/DOID_9471 meningitis A meningitis that has_material_basis_in a fungal infection. http://purl.obolibrary.org/obo/DOID_0111467 combined oxidative phosphorylation deficiency 13 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. http://purl.obolibrary.org/obo/DOID_0070306 post-cardiac arrest syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies. http://purl.obolibrary.org/obo/DOID_12854 obsolete adhesions of drum head to stapes http://purl.obolibrary.org/obo/DOID_11612 polycystic ovary syndrome http://purl.obolibrary.org/obo/DOID_1414 ovarian dysfunction An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. http://purl.obolibrary.org/obo/DOID_0111468 combined oxidative phosphorylation deficiency 25 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. http://purl.obolibrary.org/obo/DOID_0070307 craniolenticulosutural dysplasia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. http://purl.obolibrary.org/obo/DOID_12860 obsolete non-neoplastic nevus of skin http://purl.obolibrary.org/obo/DOID_11623 dental pulp necrosis http://purl.obolibrary.org/obo/DOID_5330 dental pulp disease A dental pulp disease characterized by death of the pulp tissue. http://purl.obolibrary.org/obo/DOID_0111469 combined oxidative phosphorylation deficiency 16 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. http://purl.obolibrary.org/obo/DOID_0070308 rippling muscle disease 1 http://purl.obolibrary.org/obo/DOID_66 muscle tissue disease A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. http://purl.obolibrary.org/obo/DOID_12863 obsolete senile nevus http://purl.obolibrary.org/obo/DOID_11629 pelvic muscle wasting http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two. http://purl.obolibrary.org/obo/DOID_0111470 combined oxidative phosphorylation deficiency 28 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. http://purl.obolibrary.org/obo/DOID_0070309 absence epilepsy http://purl.obolibrary.org/obo/DOID_0050701 electroclinical syndrome An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. http://purl.obolibrary.org/obo/DOID_12864 obsolete acrosyringeal nevus http://purl.obolibrary.org/obo/DOID_12879 obsolete Pars plana exudative cyst http://purl.obolibrary.org/obo/DOID_11650 bronchopulmonary dysplasia http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. http://purl.obolibrary.org/obo/DOID_0111471 combined oxidative phosphorylation deficiency 30 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. http://purl.obolibrary.org/obo/DOID_0070310 drug-induced hearing loss http://purl.obolibrary.org/obo/DOID_0050563 nonsyndromic deafness A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity. http://purl.obolibrary.org/obo/DOID_0070311 oligoasthenoteratozoospermia http://purl.obolibrary.org/obo/DOID_12336 male infertility A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility. http://purl.obolibrary.org/obo/DOID_12881 obsolete idiopathic urticaria http://purl.obolibrary.org/obo/DOID_11656 cicatricial pemphigoid http://purl.obolibrary.org/obo/DOID_0080841 pemphigoid A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. http://purl.obolibrary.org/obo/DOID_0111472 combined oxidative phosphorylation deficiency 9 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. http://purl.obolibrary.org/obo/DOID_0070314 obstructive nephropathy http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. http://purl.obolibrary.org/obo/DOID_0070315 hypoplastic right heart syndrome http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. http://purl.obolibrary.org/obo/DOID_0070316 Miura type epiphyseal chondrodysplasia http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_12910 obsolete sickle-cell/Hb-C disease with crisis http://purl.obolibrary.org/obo/DOID_1166 palindromic rheumatism http://purl.obolibrary.org/obo/DOID_848 arthritis An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. http://purl.obolibrary.org/obo/DOID_0111473 combined oxidative phosphorylation deficiency 5 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_0080320 peripheral nervous system benign neoplasm http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm the is located_in the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_12921 obsolete childhood schizophrenia http://purl.obolibrary.org/obo/DOID_11661 blue color blindness http://purl.obolibrary.org/obo/DOID_13399 color blindness A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. http://purl.obolibrary.org/obo/DOID_0111474 combined oxidative phosphorylation deficiency 1 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. http://purl.obolibrary.org/obo/DOID_0080321 autonomic nervous system benign neoplasm http://purl.obolibrary.org/obo/DOID_0080320 peripheral nervous system benign neoplasm A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system. http://purl.obolibrary.org/obo/DOID_12922 obsolete acute undifferentiated schizophrenia http://purl.obolibrary.org/obo/DOID_12923 obsolete chronic undifferentiated schizophrenia http://purl.obolibrary.org/obo/DOID_11668 hypopigmentation of eyelid http://purl.obolibrary.org/obo/DOID_530 eyelid disease A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances. http://purl.obolibrary.org/obo/DOID_0111475 combined oxidative phosphorylation deficiency 39 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. http://purl.obolibrary.org/obo/DOID_11678 onchocerciasis http://purl.obolibrary.org/obo/DOID_1080 filariasis A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. http://purl.obolibrary.org/obo/DOID_0080322 polycystic kidney disease http://purl.obolibrary.org/obo/DOID_2975 cystic kidney disease A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. http://purl.obolibrary.org/obo/DOID_12928 obsolete nutritional cardiomyopathy http://purl.obolibrary.org/obo/DOID_0111476 combined oxidative phosphorylation deficiency 19 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disease that is characterized by elevated levels of lipids in the blood. http://purl.obolibrary.org/obo/DOID_11695 portal vein thrombosis http://purl.obolibrary.org/obo/DOID_0060903 thrombosis A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. http://purl.obolibrary.org/obo/DOID_0080323 pancreatic squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma A squamous cell carcinoma located in the pancreas. http://purl.obolibrary.org/obo/DOID_12936 obsolete secondary cardiomyopathy http://purl.obolibrary.org/obo/DOID_12973 obsolete secondary malignant neoplasm of intrapelvic lymph node http://purl.obolibrary.org/obo/DOID_0111477 combined oxidative phosphorylation deficiency 14 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. http://purl.obolibrary.org/obo/DOID_117 heart cancer http://purl.obolibrary.org/obo/DOID_5093 thoracic cancer A cardiovascular cancer located_in the heart. http://purl.obolibrary.org/obo/DOID_11701 selective IgA deficiency disease http://purl.obolibrary.org/obo/DOID_11702 dysgammaglobulinemia A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. http://purl.obolibrary.org/obo/DOID_0080324 tuberous sclerosis 1 http://purl.obolibrary.org/obo/DOID_13515 tuberous sclerosis A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_12983 obsolete transient disorder of initiating or maintaining sleep http://purl.obolibrary.org/obo/DOID_12985 obsolete functional disorder of polymorphonuclear neutrophils http://purl.obolibrary.org/obo/DOID_0111478 combined oxidative phosphorylation deficiency 20 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_11702 dysgammaglobulinemia http://purl.obolibrary.org/obo/DOID_6025 selective immunoglobulin deficiency disease A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. http://purl.obolibrary.org/obo/DOID_0080325 tuberous sclerosis 2 http://purl.obolibrary.org/obo/DOID_13515 tuberous sclerosis A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0080326 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/DOID_11984 hypertrophic cardiomyopathy A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. http://purl.obolibrary.org/obo/DOID_130 obsolete female genitalia nevus http://purl.obolibrary.org/obo/DOID_0111479 combined oxidative phosphorylation deficiency 8 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. http://purl.obolibrary.org/obo/DOID_11712 lipoatrophic diabetes mellitus http://purl.obolibrary.org/obo/DOID_9352 type 2 diabetes mellitus A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. http://purl.obolibrary.org/obo/DOID_60000 appendix disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is located_in the appendix. http://purl.obolibrary.org/obo/DOID_13023 obsolete sickle cell trait http://purl.obolibrary.org/obo/DOID_0111480 combined oxidative phosphorylation deficiency 10 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. http://purl.obolibrary.org/obo/DOID_11713 diabetic angiopathy http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma http://purl.obolibrary.org/obo/DOID_0080638 B-cell acute lymphoblastic leukemia A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. http://purl.obolibrary.org/obo/DOID_13040 obsolete syphilitic optic atrophy http://purl.obolibrary.org/obo/DOID_0111481 combined oxidative phosphorylation deficiency 11 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. http://purl.obolibrary.org/obo/DOID_11714 gestational diabetes http://purl.obolibrary.org/obo/DOID_9351 diabetes mellitus A diabetes mellitus that manifests during pregnancy. http://purl.obolibrary.org/obo/DOID_0111482 combined oxidative phosphorylation deficiency 36 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_0080994 autoimmune epilepsy http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. http://purl.obolibrary.org/obo/DOID_13063 obsolete moderate recurrent major depression http://purl.obolibrary.org/obo/DOID_11716 prediabetes syndrome http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes. http://purl.obolibrary.org/obo/DOID_0111483 combined oxidative phosphorylation deficiency 2 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. http://purl.obolibrary.org/obo/DOID_0070355 overactive bladder syndrome http://purl.obolibrary.org/obo/DOID_365 bladder disease A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. http://purl.obolibrary.org/obo/DOID_13121 obsolete deficiency anemia http://purl.obolibrary.org/obo/DOID_11717 neonatal diabetes mellitus http://purl.obolibrary.org/obo/DOID_9351 diabetes mellitus A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life. http://purl.obolibrary.org/obo/DOID_0111484 combined oxidative phosphorylation deficiency 18 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. http://purl.obolibrary.org/obo/DOID_0081267 graft-versus-host disease http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_1314 obsolete wasting syndrome http://purl.obolibrary.org/obo/DOID_11718 antidepressant type abuse http://purl.obolibrary.org/obo/DOID_302 substance abuse A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. http://purl.obolibrary.org/obo/DOID_13157 obsolete sensory disorder of eyelid http://purl.obolibrary.org/obo/DOID_0111485 combined oxidative phosphorylation deficiency 24 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_0081268 pulmonary venoocclusive disease 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_13175 obsolete female genital tuberculosis http://purl.obolibrary.org/obo/DOID_11720 distal myopathy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. http://purl.obolibrary.org/obo/DOID_13177 obsolete chronic erythremia in remission http://purl.obolibrary.org/obo/DOID_0111486 combined oxidative phosphorylation deficiency 3 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. http://purl.obolibrary.org/obo/DOID_0111487 combined oxidative phosphorylation deficiency 7 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0081269 pulmonary venoocclusive disease 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. http://purl.obolibrary.org/obo/DOID_11721 glycogen storage disease VII http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_13192 obsolete pulmonary congestion and hypostasis http://purl.obolibrary.org/obo/DOID_0111488 combined oxidative phosphorylation deficiency 31 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. http://purl.obolibrary.org/obo/DOID_0081270 Smith-McCort dysplasia 1 http://purl.obolibrary.org/obo/DOID_0060247 Smith-McCort dysplasia A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0081271 Smith-McCort dysplasia 2 http://purl.obolibrary.org/obo/DOID_0060247 Smith-McCort dysplasia A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. http://purl.obolibrary.org/obo/DOID_0081272 Sandestig-Stefanova syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_11722 myotonic dystrophy type 1 http://purl.obolibrary.org/obo/DOID_450 myotonic disease A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. http://purl.obolibrary.org/obo/DOID_13194 obsolete non-toxic nodular goiter http://purl.obolibrary.org/obo/DOID_0111489 combined oxidative phosphorylation deficiency 27 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_0081273 Siddiqi syndrome http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_13202 obsolete secondary syphilitic iridocyclitis http://purl.obolibrary.org/obo/DOID_11723 Duchenne muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. http://purl.obolibrary.org/obo/DOID_11724 limb-girdle muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. http://purl.obolibrary.org/obo/DOID_0111490 combined oxidative phosphorylation deficiency 26 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. http://purl.obolibrary.org/obo/DOID_0081274 peroxisome biogenesis disorder 14B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_13211 obsolete secondary malignant neoplasm of brain and spinal cord http://purl.obolibrary.org/obo/DOID_11725 Cornelia de Lange syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. http://purl.obolibrary.org/obo/DOID_0111491 combined oxidative phosphorylation deficiency 15 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. http://purl.obolibrary.org/obo/DOID_0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. http://purl.obolibrary.org/obo/DOID_13212 obsolete metastasis to skin http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. http://purl.obolibrary.org/obo/DOID_11729 Lyme disease http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. http://purl.obolibrary.org/obo/DOID_0111492 combined oxidative phosphorylation deficiency 32 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0081276 cerebellar atrophy, visual impairment, and psychomotor retardation http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_13213 obsolete metastatic cancer to the breast http://purl.obolibrary.org/obo/DOID_11746 parametrium malignant neoplasm http://purl.obolibrary.org/obo/DOID_11747 uterine adnexa cancer A uterine adnexa cancer that is located_in the parametrium. http://purl.obolibrary.org/obo/DOID_0111493 combined oxidative phosphorylation deficiency 12 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. http://purl.obolibrary.org/obo/DOID_0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype http://purl.obolibrary.org/obo/DOID_3070 high grade glioma A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. http://purl.obolibrary.org/obo/DOID_13219 obsolete transsexuality with heterosexual history http://purl.obolibrary.org/obo/DOID_0111494 combined oxidative phosphorylation deficiency 4 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_11747 uterine adnexa cancer http://purl.obolibrary.org/obo/DOID_363 uterine cancer A uterine cancer that is located_in the adnexa. http://purl.obolibrary.org/obo/DOID_0081278 infant-type hemispheric glioma http://purl.obolibrary.org/obo/DOID_3069 malignant astrocytoma A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. http://purl.obolibrary.org/obo/DOID_11748 round ligament malignant neoplasm http://purl.obolibrary.org/obo/DOID_11747 uterine adnexa cancer A uterine adnexa cancer that is located_in the round ligament. http://purl.obolibrary.org/obo/DOID_11750 Bordetella parapertussis whooping cough http://purl.obolibrary.org/obo/DOID_1116 pertussis A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose. http://purl.obolibrary.org/obo/DOID_13224 obsolete introverted personality http://purl.obolibrary.org/obo/DOID_0111495 combined oxidative phosphorylation deficiency 33 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0111496 combined oxidative phosphorylation deficiency 17 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. http://purl.obolibrary.org/obo/DOID_0081279 diffuse astrocytoma, MYB- or MYBL1-altered http://purl.obolibrary.org/obo/DOID_4857 diffuse astrocytoma A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. http://purl.obolibrary.org/obo/DOID_11754 siderosis of eye http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body. http://purl.obolibrary.org/obo/DOID_1323 obsolete malignant neoplasm of trachea, bronchus and lung http://purl.obolibrary.org/obo/DOID_0111497 combined oxidative phosphorylation deficiency 34 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_0081280 pituicytoma http://purl.obolibrary.org/obo/DOID_5048 posterior pituitary gland neoplasm A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. http://purl.obolibrary.org/obo/DOID_0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 http://purl.obolibrary.org/obo/DOID_0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). http://purl.obolibrary.org/obo/DOID_11755 choledocholithiasis http://purl.obolibrary.org/obo/DOID_4137 common bile duct disease A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct. http://purl.obolibrary.org/obo/DOID_11758 iron deficiency anemia http://purl.obolibrary.org/obo/DOID_11252 microcytic anemia A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells. http://purl.obolibrary.org/obo/DOID_13232 obsolete Diffuse cholesteatosis of middle ear and mastoid http://purl.obolibrary.org/obo/DOID_13253 obsolete jejunal disease http://purl.obolibrary.org/obo/DOID_0111498 combined oxidative phosphorylation deficiency 22 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. http://purl.obolibrary.org/obo/DOID_0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 http://purl.obolibrary.org/obo/DOID_0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. http://purl.obolibrary.org/obo/DOID_11759 hypochromic anemia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. http://purl.obolibrary.org/obo/DOID_13262 obsolete hallucinatory state induced by drug http://purl.obolibrary.org/obo/DOID_0111499 combined oxidative phosphorylation deficiency 37 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0081283 papillary glioneuronal tumor http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. http://purl.obolibrary.org/obo/DOID_0081284 rosette-forming glioneuronal tumor http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. http://purl.obolibrary.org/obo/DOID_1176 bronchial disease http://purl.obolibrary.org/obo/DOID_0050161 lower respiratory tract disease A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. http://purl.obolibrary.org/obo/DOID_11760 Kohler's disease http://purl.obolibrary.org/obo/DOID_8125 osteochondrosis An osteochondrosis that results_in death and collapse located_in navicular bone of foot. http://purl.obolibrary.org/obo/DOID_13315 obsolete relapsing pancreatitis http://purl.obolibrary.org/obo/DOID_0111500 combined oxidative phosphorylation deficiency 23 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_0081285 myxoid glioneuronal tumor http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. http://purl.obolibrary.org/obo/DOID_11776 absolute glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance. http://purl.obolibrary.org/obo/DOID_13319 obsolete lower limb lymph node mast cell malignancy http://purl.obolibrary.org/obo/DOID_0111501 combined oxidative phosphorylation deficiency 29 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. http://purl.obolibrary.org/obo/DOID_0081286 embryonal tumor with multilayered rosettes http://purl.obolibrary.org/obo/DOID_0060103 central nervous system embryonal tumor A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. http://purl.obolibrary.org/obo/DOID_11782 astigmatism http://purl.obolibrary.org/obo/DOID_9835 refractive error A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. http://purl.obolibrary.org/obo/DOID_13350 obsolete gender identity disorder in children http://purl.obolibrary.org/obo/DOID_0111502 combined oxidative phosphorylation deficiency 6 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. http://purl.obolibrary.org/obo/DOID_0081366 Paget disease of bone 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_11797 chronic laryngitis http://purl.obolibrary.org/obo/DOID_3437 laryngitis A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. http://purl.obolibrary.org/obo/DOID_13361 obsolete nephrotic syndrome with lesion of proliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_118 pericardial effusion http://purl.obolibrary.org/obo/DOID_0050829 pericardium disease A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. http://purl.obolibrary.org/obo/DOID_0111503 Li-Fraumeni syndrome 1 http://purl.obolibrary.org/obo/DOID_3012 Li-Fraumeni syndrome A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_13364 obsolete chronobiology disease http://purl.obolibrary.org/obo/DOID_11801 protein-energy malnutrition http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation. http://purl.obolibrary.org/obo/DOID_0111504 Li-Fraumeni syndrome 2 http://purl.obolibrary.org/obo/DOID_3012 Li-Fraumeni syndrome A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1. http://purl.obolibrary.org/obo/DOID_0081367 Paget disease of bone 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. http://purl.obolibrary.org/obo/DOID_0060912 craniosynostosis 7 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. http://purl.obolibrary.org/obo/DOID_13376 obsolete congenital aortic insufficiency http://purl.obolibrary.org/obo/DOID_11812 bladder sarcoma http://purl.obolibrary.org/obo/DOID_1115 sarcoma A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma http://purl.obolibrary.org/obo/DOID_2841 asthma An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. http://purl.obolibrary.org/obo/DOID_13380 obsolete acute pyelonephritis with lesion of renal medullary necrosis http://purl.obolibrary.org/obo/DOID_11818 ureteral orifice cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer An urinary bladder cancer located_in the ureteral orifice. http://purl.obolibrary.org/obo/DOID_0080899 lung pleomorphic carcinoma http://purl.obolibrary.org/obo/DOID_1324 lung cancer A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. http://purl.obolibrary.org/obo/DOID_0080900 oral rhabdomyosarcoma http://purl.obolibrary.org/obo/DOID_8618 oral cavity cancer A rhabdomyosarcoma located in the oral cavity. http://purl.obolibrary.org/obo/DOID_0060914 proteosome-associated autoinflammatory syndrome 2 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_13387 obsolete upper limb cancer http://purl.obolibrary.org/obo/DOID_11819 ureter cancer http://purl.obolibrary.org/obo/DOID_3996 urinary system cancer A urinary system cancer that is located_in the ureter. http://purl.obolibrary.org/obo/DOID_0080901 bladder sarcomatoid transitional cell carcinoma http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer A sarcomatoid transitional cell carcinoma that is located_in the bladder. http://purl.obolibrary.org/obo/DOID_0060915 proteosome-associated autoinflammatory syndrome 4 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_13397 obsolete atypical manic disorder http://purl.obolibrary.org/obo/DOID_11823 hepatorenal syndrome http://purl.obolibrary.org/obo/DOID_3021 acute kidney failure An acute kidney failure that is characterized by severe renal vasoconstriction. http://purl.obolibrary.org/obo/DOID_0080902 bladder small cell carcinoma http://purl.obolibrary.org/obo/DOID_4007 bladder carcinoma A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. http://purl.obolibrary.org/obo/DOID_0060916 proteasome-associated autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_13398 obsolete open angle with borderline glaucoma findings http://purl.obolibrary.org/obo/DOID_11824 multicentric reticulohistiocytosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. http://purl.obolibrary.org/obo/DOID_0080904 astroblastoma, MN1-altered http://purl.obolibrary.org/obo/DOID_7305 astroblastoma An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. http://purl.obolibrary.org/obo/DOID_0060917 facioscapulohumeral muscular dystrophy 3 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. http://purl.obolibrary.org/obo/DOID_13408 obsolete metastasis to pleura http://purl.obolibrary.org/obo/DOID_11830 myopia http://purl.obolibrary.org/obo/DOID_9835 refractive error A refractive error characterized by the inability to see farther objects clearly. http://purl.obolibrary.org/obo/DOID_11836 clubfoot http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. http://purl.obolibrary.org/obo/DOID_0080905 central nervous system neuroblastoma http://purl.obolibrary.org/obo/DOID_4439 central nervous system germ cell tumor A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. http://purl.obolibrary.org/obo/DOID_0080906 CNS neuroblastoma with FOXR2 activation http://purl.obolibrary.org/obo/DOID_0080905 central nervous system neuroblastoma A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. http://purl.obolibrary.org/obo/DOID_0060918 facioscapulohumeral muscular dystrophy 4 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. http://purl.obolibrary.org/obo/DOID_1341 obsolete congenital anemia http://purl.obolibrary.org/obo/DOID_11838 penis sarcoma http://purl.obolibrary.org/obo/DOID_11615 penile cancer A sarcoma and malignant neoplasm of penis that is located_in the penis. http://purl.obolibrary.org/obo/DOID_0080907 Cockayne syndrome A http://purl.obolibrary.org/obo/DOID_2962 Cockayne syndrome A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. http://purl.obolibrary.org/obo/DOID_0080908 Cockayne syndrome B http://purl.obolibrary.org/obo/DOID_2962 Cockayne syndrome A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. http://purl.obolibrary.org/obo/DOID_0060919 proteosome-associated autoinflammatory syndrome 5 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_13416 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder http://purl.obolibrary.org/obo/DOID_1184 nephrotic syndrome http://purl.obolibrary.org/obo/DOID_2527 nephrosis A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. http://purl.obolibrary.org/obo/DOID_0080909 castration-resistant prostate carcinoma http://purl.obolibrary.org/obo/DOID_10286 prostate carcinoma A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. http://purl.obolibrary.org/obo/DOID_0080911 cerebrooculofacioskeletal syndrome 1 http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. http://purl.obolibrary.org/obo/DOID_0070470 chromosome 1p36.33 duplication syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. http://purl.obolibrary.org/obo/DOID_13468 obsolete primary genital syphilis http://purl.obolibrary.org/obo/DOID_11851 indeterminate leprosy http://purl.obolibrary.org/obo/DOID_1024 leprosy A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. http://purl.obolibrary.org/obo/DOID_0080913 cerebrooculofacioskeletal syndrome 3 http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. http://purl.obolibrary.org/obo/DOID_0070473 Zaki syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. http://purl.obolibrary.org/obo/DOID_13469 obsolete secondary cutaneous syphilis http://purl.obolibrary.org/obo/DOID_11870 Pick's disease http://purl.obolibrary.org/obo/DOID_9255 frontotemporal dementia A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function. http://purl.obolibrary.org/obo/DOID_0080914 cerebrooculofacioskeletal syndrome 4 http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070474 childhood-onset neurodegeneration with brain atrophy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_13471 obsolete secondary syphilitic lymphadenitis http://purl.obolibrary.org/obo/DOID_1188 mononeuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. http://purl.obolibrary.org/obo/DOID_0080915 histiocytic sarcoma http://purl.obolibrary.org/obo/DOID_5621 histiocytic and dendritic cell cancer A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. http://purl.obolibrary.org/obo/DOID_0070485 mitochondrial complex IV deficiency nuclear type 23 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_13480 obsolete paranoid type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_11887 ureter leiomyoma http://purl.obolibrary.org/obo/DOID_127 leiomyoma An ureteral benign neoplasm that derives_from smooth muscle cells. http://purl.obolibrary.org/obo/DOID_0080916 erythroleukemia http://purl.obolibrary.org/obo/DOID_0080780 acute erythroid leukemia An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. http://purl.obolibrary.org/obo/DOID_0070486 Parkinson's disease 25 http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. http://purl.obolibrary.org/obo/DOID_13484 obsolete disorganized type schizophrenia chronic state http://purl.obolibrary.org/obo/DOID_11889 female breast nipple and areola cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the nipple and areola. http://purl.obolibrary.org/obo/DOID_0080917 sporadic amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/DOID_332 amyotrophic lateral sclerosis An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS. http://purl.obolibrary.org/obo/DOID_0070487 dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_13518 obsolete stiffness of joint http://purl.obolibrary.org/obo/DOID_119 vaginal cancer http://purl.obolibrary.org/obo/DOID_121 vaginal disease A female reproductive system cancer that is located_in the vagina. http://purl.obolibrary.org/obo/DOID_0080918 polymicrogyria http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). http://purl.obolibrary.org/obo/DOID_0070488 atypical dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/DOID_0070487 dopamine transporter deficiency syndrome A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. http://purl.obolibrary.org/obo/DOID_13535 obsolete intrapelvic lymph node mast cell malignancy http://purl.obolibrary.org/obo/DOID_11905 labium majus cancer http://purl.obolibrary.org/obo/DOID_1245 vulva cancer A vulva cancer that is located_in the labium majus. http://purl.obolibrary.org/obo/DOID_0080919 unilateral focal polymicrogyria http://purl.obolibrary.org/obo/DOID_0080918 polymicrogyria A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. http://purl.obolibrary.org/obo/DOID_0070489 classic dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/DOID_0070487 dopamine transporter deficiency syndrome A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. http://purl.obolibrary.org/obo/DOID_13554 obsolete gonococcal peritonitis http://purl.obolibrary.org/obo/DOID_11917 tinea cruris http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. http://purl.obolibrary.org/obo/DOID_0080920 bilateral generalized polymicrogyria http://purl.obolibrary.org/obo/DOID_0080918 polymicrogyria A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain. http://purl.obolibrary.org/obo/DOID_0070490 infantile parkinsonism-dystonia 2 http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. http://purl.obolibrary.org/obo/DOID_13555 obsolete pharyngeal gonorrhea http://purl.obolibrary.org/obo/DOID_1192 peripheral nervous system neoplasm http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease A nervous system cancer that is located in the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_0080921 bilateral frontal polymicrogyria http://purl.obolibrary.org/obo/DOID_0080918 polymicrogyria A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. http://purl.obolibrary.org/obo/DOID_0070492 mitochondrial complex IV deficiency nuclear type 3 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. http://purl.obolibrary.org/obo/DOID_13556 obsolete gonococcal keratosis http://purl.obolibrary.org/obo/DOID_11920 tracheal cancer http://purl.obolibrary.org/obo/DOID_3225 tracheal disease A respiratory system cancer that is located_in the trachea. http://purl.obolibrary.org/obo/DOID_0080922 complex cortical dysplasia with other brain malformations 14A http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_0070493 mitochondrial complex IV deficiency nuclear type 4 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_13558 obsolete gonococcal urethritis http://purl.obolibrary.org/obo/DOID_11934 head and neck cancer http://purl.obolibrary.org/obo/DOID_0050686 organ system cancer An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. http://purl.obolibrary.org/obo/DOID_0080924 complex cortical dysplasia with other brain malformations 14B http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_0070494 mitochondrial complex IV deficiency nuclear type 7 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. http://purl.obolibrary.org/obo/DOID_1356 obsolete lymphoma by site http://purl.obolibrary.org/obo/DOID_11968 postmenopausal atrophic vaginitis http://purl.obolibrary.org/obo/DOID_2170 vaginitis A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency. http://purl.obolibrary.org/obo/DOID_0080925 cytochrome P450 oxidoreductase deficiency http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. http://purl.obolibrary.org/obo/DOID_0070495 mitochondrial complex IV deficiency nuclear type 8 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/DOID_13562 obsolete glaucoma associated with pupillary block http://purl.obolibrary.org/obo/DOID_11971 synostosis http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis that results_in abnormal fusing of adjacent bones. http://purl.obolibrary.org/obo/DOID_0080926 7q11.23 duplication syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. http://purl.obolibrary.org/obo/DOID_0080927 apolipoprotein A-IV associated amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. http://purl.obolibrary.org/obo/DOID_0070496 mitochondrial complex IV deficiency nuclear type 10 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. http://purl.obolibrary.org/obo/DOID_13573 obsolete schizo-affective type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_0070497 mitochondrial complex IV deficiency nuclear type 11 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. http://purl.obolibrary.org/obo/DOID_11976 botulism http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. http://purl.obolibrary.org/obo/DOID_0080928 dialysis-related amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. http://purl.obolibrary.org/obo/DOID_13577 obsolete ascorbic acid deficiency http://purl.obolibrary.org/obo/DOID_0070498 mitochondrial complex IV deficiency nuclear type 12 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_11983 Prader-Willi syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. http://purl.obolibrary.org/obo/DOID_0080929 variant ABeta2M amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. http://purl.obolibrary.org/obo/DOID_13581 obsolete magnesium deficiency http://purl.obolibrary.org/obo/DOID_0070499 mitochondrial complex IV deficiency nuclear type 14 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_11984 hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. http://purl.obolibrary.org/obo/DOID_11990 ulceroglandular tularemia http://purl.obolibrary.org/obo/DOID_2123 tularemia A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. http://purl.obolibrary.org/obo/DOID_0080931 primary localized cutaneous amyloidosis 2 http://purl.obolibrary.org/obo/DOID_0050639 primary cutaneous amyloidosis A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. http://purl.obolibrary.org/obo/DOID_13582 obsolete potassium deficiency http://purl.obolibrary.org/obo/DOID_13583 obsolete fetal nutrition disorder http://purl.obolibrary.org/obo/DOID_0070500 mitochondrial complex IV deficiency nuclear type 15 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/DOID_11991 osteopoikilosis http://purl.obolibrary.org/obo/DOID_4254 osteosclerosis An osteosclerosis that results_in numerous bone islands located_in skeleton. http://purl.obolibrary.org/obo/DOID_120 female reproductive organ cancer http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. http://purl.obolibrary.org/obo/DOID_0080933 immunoglobulin light chain amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. http://purl.obolibrary.org/obo/DOID_13602 obsolete acute schizophrenic episode subchronic state http://purl.obolibrary.org/obo/DOID_0070501 mitochondrial complex IV deficiency nuclear type 16 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/DOID_12002 trachea sarcoma http://purl.obolibrary.org/obo/DOID_11920 tracheal cancer A sarcoma and malignant tumor of trachea that is located_in the trachea. http://purl.obolibrary.org/obo/DOID_12003 trachea squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_4876 trachea carcinoma A squamous cell carcinoma that is located_in the trachea. http://purl.obolibrary.org/obo/DOID_0080934 immunoglobulin heavy chain amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. http://purl.obolibrary.org/obo/DOID_13604 obsolete acute schizophrenic episode chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_0070502 mitochondrial complex IV deficiency nuclear type 17 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. http://purl.obolibrary.org/obo/DOID_12028 Conn's syndrome http://purl.obolibrary.org/obo/DOID_656 adrenal adenoma An adrenal adenoma characterized by the over production of aldosterone. http://purl.obolibrary.org/obo/DOID_0080935 immunoglobulin heavy-and-light chain http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. http://purl.obolibrary.org/obo/DOID_13605 obsolete acute schizophrenic episode chronic state http://purl.obolibrary.org/obo/DOID_0070503 mitochondrial complex IV deficiency nuclear type 18 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_12029 sympathetic ophthalmia http://purl.obolibrary.org/obo/DOID_12030 panuveitis A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia. http://purl.obolibrary.org/obo/DOID_0080936 serum amyloid A amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. http://purl.obolibrary.org/obo/DOID_13643 obsolete pneumococcal septicemia http://purl.obolibrary.org/obo/DOID_0070504 mitochondrial complex IV deficiency nuclear type 19 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. http://purl.obolibrary.org/obo/DOID_12030 panuveitis http://purl.obolibrary.org/obo/DOID_13141 uveitis An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid. http://purl.obolibrary.org/obo/DOID_1205 allergic disease http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. http://purl.obolibrary.org/obo/DOID_12053 cryptococcosis http://purl.obolibrary.org/obo/DOID_2473 opportunistic mycosis An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. http://purl.obolibrary.org/obo/DOID_0080938 nonobstructive coronary artery disease http://purl.obolibrary.org/obo/DOID_3393 coronary artery disease A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent. http://purl.obolibrary.org/obo/DOID_13644 obsolete streptococcal septicemia http://purl.obolibrary.org/obo/DOID_0070505 mitochondrial complex IV deficiency nuclear type 20 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. http://purl.obolibrary.org/obo/DOID_1206 Rett syndrome http://purl.obolibrary.org/obo/DOID_0060040 pervasive developmental disorder A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. http://purl.obolibrary.org/obo/DOID_1209 nutritional optic neuropathy http://purl.obolibrary.org/obo/DOID_1210 optic neuritis An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse. http://purl.obolibrary.org/obo/DOID_13648 obsolete paranoid state http://purl.obolibrary.org/obo/DOID_0070506 mitochondrial complex IV deficiency nuclear type 21 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. http://purl.obolibrary.org/obo/DOID_0080939 hereditary angioedema type I http://purl.obolibrary.org/obo/DOID_14735 hereditary angioedema A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. http://purl.obolibrary.org/obo/DOID_0070507 mitochondrial complex IV deficiency nuclear type 22 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. http://purl.obolibrary.org/obo/DOID_12096 sodoku disease http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. http://purl.obolibrary.org/obo/DOID_121 vaginal disease http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is located_in the vagina. http://purl.obolibrary.org/obo/DOID_1210 optic neuritis http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. http://purl.obolibrary.org/obo/DOID_13650 obsolete joint disorder http://purl.obolibrary.org/obo/DOID_0080940 hereditary angioedema type III http://purl.obolibrary.org/obo/DOID_14735 hereditary angioedema A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0070508 metabolic dysfunction and alcohol associated liver disease http://purl.obolibrary.org/obo/DOID_9452 steatotic liver disease A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. http://purl.obolibrary.org/obo/DOID_13668 obsolete meningococcal encephalitis http://purl.obolibrary.org/obo/DOID_0081383 ataxia-oculomotor apraxia 4 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0081384 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. http://purl.obolibrary.org/obo/DOID_0081385 ataxia-telangiectasia-like disorder 2 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. http://purl.obolibrary.org/obo/DOID_0081386 TANGO2-related metabolic encephalopathy and arrythmias http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_12117 pulmonary alveolar microlithiasis http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs. http://purl.obolibrary.org/obo/DOID_0080941 acquired angioedema http://purl.obolibrary.org/obo/DOID_1558 angioedema An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. http://purl.obolibrary.org/obo/DOID_0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_13670 obsolete hypocalcemia and hypomagnesemia of newborn http://purl.obolibrary.org/obo/DOID_12118 pulmonary hemosiderosis http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. http://purl.obolibrary.org/obo/DOID_12119 hemosiderosis http://purl.obolibrary.org/obo/DOID_2351 iron metabolism disease An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. http://purl.obolibrary.org/obo/DOID_12120 pulmonary alveolar proteinosis http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. http://purl.obolibrary.org/obo/DOID_0080942 anauxetic dysplasia http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia http://purl.obolibrary.org/obo/DOID_9255 frontotemporal dementia A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. http://purl.obolibrary.org/obo/DOID_13679 obsolete simple type schizophrenia subchronic state http://purl.obolibrary.org/obo/DOID_12124 episcleritis periodica fugax http://purl.obolibrary.org/obo/DOID_11343 scleral disease A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate. http://purl.obolibrary.org/obo/DOID_0080943 46,XX sex reversal 5 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_0081389 logopenic progressive aphasia http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. http://purl.obolibrary.org/obo/DOID_0081390 progressive non-fluent aphasia http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. http://purl.obolibrary.org/obo/DOID_0081391 semantic dementia http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. http://purl.obolibrary.org/obo/DOID_13680 obsolete simple type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_0081392 corticobasal degeneration syndrome http://purl.obolibrary.org/obo/DOID_9255 frontotemporal dementia A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. http://purl.obolibrary.org/obo/DOID_0081393 organophosphate-induced delayed polyneuropathy http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. http://purl.obolibrary.org/obo/DOID_0081394 Caroli syndrome http://purl.obolibrary.org/obo/DOID_866 vein disease A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. http://purl.obolibrary.org/obo/DOID_0081407 childhood round cell sarcoma with EWSR1-non-ETS fusion http://purl.obolibrary.org/obo/DOID_0081406 round cell sarcoma with EWSR1-non-ETS fusion A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. http://purl.obolibrary.org/obo/DOID_0081415 TFE3-rearranged renal cell carcinoma http://purl.obolibrary.org/obo/DOID_0081413 renal cell carcinoma with MiT translocations A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. http://purl.obolibrary.org/obo/DOID_12128 pica disease http://purl.obolibrary.org/obo/DOID_8670 eating disorder An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. http://purl.obolibrary.org/obo/DOID_0080944 familial Behcet-like autoinflammatory syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_13681 obsolete simple type schizophrenia in remission http://purl.obolibrary.org/obo/DOID_13682 obsolete simple type schizophrenia chronic state http://purl.obolibrary.org/obo/DOID_0081423 familial focal epilepsy with variable foci 3 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_12129 bulimia nervosa http://purl.obolibrary.org/obo/DOID_8670 eating disorder An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. http://purl.obolibrary.org/obo/DOID_12132 granulomatosis with polyangiitis http://purl.obolibrary.org/obo/DOID_850 lung disease An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. http://purl.obolibrary.org/obo/DOID_0080945 abdominal obesity-metabolic syndrome 4 http://purl.obolibrary.org/obo/DOID_0060611 abdominal obesity-metabolic syndrome An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0080946 retinal dystrophy with leukodystrophy http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. http://purl.obolibrary.org/obo/DOID_13693 obsolete disorder of ureter http://purl.obolibrary.org/obo/DOID_13694 obsolete unilateral vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/DOID_0070594 spermatogenic failure 95 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2. http://purl.obolibrary.org/obo/DOID_0060995 autosomal dominant isolated macrothrombocytopenia 2 http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_12134 factor VIII deficiency http://purl.obolibrary.org/obo/DOID_0061030 hemophilia A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. http://purl.obolibrary.org/obo/DOID_0080947 acute flaccid myelitis http://purl.obolibrary.org/obo/DOID_322 myelitis A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs. http://purl.obolibrary.org/obo/DOID_13695 obsolete bilateral vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/DOID_0061005 congenital amegakaryocytic thrombocytopenia 1 http://purl.obolibrary.org/obo/DOID_0090118 congenital amegakaryocytic thrombocytopenia A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_12139 dysthymic disorder http://purl.obolibrary.org/obo/DOID_3324 mood disorder A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. http://purl.obolibrary.org/obo/DOID_0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0080949 alcoholic ketoacidosis http://purl.obolibrary.org/obo/DOID_0050758 metabolic acidosis A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy. http://purl.obolibrary.org/obo/DOID_13696 obsolete vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/DOID_0061006 advanced sleep phase syndrome 4 http://purl.obolibrary.org/obo/DOID_0050628 advanced sleep phase syndrome An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0080950 alopecia-mental retardation syndrome 4 http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_12140 Chagas disease http://purl.obolibrary.org/obo/DOID_10113 trypanosomiasis A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. http://purl.obolibrary.org/obo/DOID_13702 obsolete postpartum benign essential hypertension http://purl.obolibrary.org/obo/DOID_0061007 sideroblastic anemia 5 http://purl.obolibrary.org/obo/DOID_8955 sideroblastic anemia A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_0080951 alopecia-mental retardation syndrome 3 http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. http://purl.obolibrary.org/obo/DOID_1376 obsolete perinatal infectious disease http://purl.obolibrary.org/obo/DOID_12148 alveolar echinococcosis http://purl.obolibrary.org/obo/DOID_936 brain disease An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. http://purl.obolibrary.org/obo/DOID_12155 lymphocytic choriomeningitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in lymphocytic choriomeningitis virus (Mammarenavirus choriomeningitidis), which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting. http://purl.obolibrary.org/obo/DOID_0061008 craniosynostosis 6 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24. http://purl.obolibrary.org/obo/DOID_0080952 AMED syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. http://purl.obolibrary.org/obo/DOID_1378 obsolete uterine corpus mixed epithelial and mesenchymal tumor http://purl.obolibrary.org/obo/DOID_12157 aseptic meningitis http://purl.obolibrary.org/obo/DOID_9471 meningitis A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses. http://purl.obolibrary.org/obo/DOID_0061009 craniosynostosis 2 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0080953 amelogenesis imperfecta type 1J http://purl.obolibrary.org/obo/DOID_2187 amelogenesis imperfecta An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_13817 obsolete single episode manic disease moderate degree http://purl.obolibrary.org/obo/DOID_12169 carpal tunnel syndrome http://purl.obolibrary.org/obo/DOID_573 nerve compression syndrome A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. http://purl.obolibrary.org/obo/DOID_0061010 craniosynostosis 1 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita http://purl.obolibrary.org/obo/DOID_863 nervous system disease A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. http://purl.obolibrary.org/obo/DOID_13818 obsolete single episode manic disorder mild degree http://purl.obolibrary.org/obo/DOID_1217 fascioloidiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. http://purl.obolibrary.org/obo/DOID_0061011 craniosynostosis 3 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered http://purl.obolibrary.org/obo/DOID_7841 childhood embryonal tumor with multilayered rosettes, C19MC-altered A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. http://purl.obolibrary.org/obo/DOID_13820 obsolete congenital pneumonia http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. http://purl.obolibrary.org/obo/DOID_13837 obsolete convergence excess or spasm http://purl.obolibrary.org/obo/DOID_0061012 craniosynostosis 4 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080957 primary hypoalphalipoproteinemia 1 http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens. http://purl.obolibrary.org/obo/DOID_0061013 ovarian dysgenesis 9 http://purl.obolibrary.org/obo/DOID_14450 46 XX gonadal dysgenesis A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11. http://purl.obolibrary.org/obo/DOID_1384 obsolete Chlamydia trachomatis urethritis http://purl.obolibrary.org/obo/DOID_0061014 ovarian dysgenesis 10 http://purl.obolibrary.org/obo/DOID_14450 46 XX gonadal dysgenesis A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. http://purl.obolibrary.org/obo/DOID_0080958 primary hypoalphalipoproteinemia 2 http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_0080959 arrhythmogenic right ventricular dysplasia 14 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_12179 tinea corporis http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. http://purl.obolibrary.org/obo/DOID_1218 echinostomiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. http://purl.obolibrary.org/obo/DOID_12185 otosclerosis http://purl.obolibrary.org/obo/DOID_2952 inner ear disease An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. http://purl.obolibrary.org/obo/DOID_13844 obsolete suppressed lactation - delivered http://purl.obolibrary.org/obo/DOID_0070620 ring chromosome syndrome http://purl.obolibrary.org/obo/DOID_0080014 chromosomal disease A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable. http://purl.obolibrary.org/obo/DOID_0080960 amelogenesis imperfecta type 2A6 http://purl.obolibrary.org/obo/DOID_2187 amelogenesis imperfecta An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0080962 anauxetic dysplasia 2 http://purl.obolibrary.org/obo/DOID_0080942 anauxetic dysplasia A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_1219 dicrocoeliasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. http://purl.obolibrary.org/obo/DOID_12205 dengue disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding. http://purl.obolibrary.org/obo/DOID_13845 obsolete suppressed lactation http://purl.obolibrary.org/obo/DOID_0070621 ring chromosome 14 syndrome http://purl.obolibrary.org/obo/DOID_0070620 ring chromosome syndrome A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure. http://purl.obolibrary.org/obo/DOID_0080963 anauxetic dysplasia 3 http://purl.obolibrary.org/obo/DOID_0080942 anauxetic dysplasia A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_12206 dengue hemorrhagic fever http://purl.obolibrary.org/obo/DOID_12205 dengue disease A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified. http://purl.obolibrary.org/obo/DOID_13850 obsolete acquired hallux varus http://purl.obolibrary.org/obo/DOID_13869 obsolete psychosexual dysfunction with male orgasmic disease http://purl.obolibrary.org/obo/DOID_0070622 ring chromosome 20 syndrome http://purl.obolibrary.org/obo/DOID_0070620 ring chromosome syndrome A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure. http://purl.obolibrary.org/obo/DOID_0080964 intracranial berry aneurysm 1 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2. http://purl.obolibrary.org/obo/DOID_0080965 intracranial berry aneurysm 2 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080966 intracranial berry aneurysm 3 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36. http://purl.obolibrary.org/obo/DOID_12211 filarial elephantiasis http://purl.obolibrary.org/obo/DOID_37 skin disease A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. http://purl.obolibrary.org/obo/DOID_13887 obsolete residual chronic schizophrenia http://purl.obolibrary.org/obo/DOID_0070623 B-lymphoblastic leukemia with MEF2D rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement. http://purl.obolibrary.org/obo/DOID_0080967 intracranial berry aneurysm 4 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3. http://purl.obolibrary.org/obo/DOID_12215 oligohydramnios http://purl.obolibrary.org/obo/DOID_780 placenta disease A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. http://purl.obolibrary.org/obo/DOID_13906 obsolete malignant pleural effusion http://purl.obolibrary.org/obo/DOID_0070624 B-lymphoblastic leukemia with MYC rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement. http://purl.obolibrary.org/obo/DOID_13923 obsolete acute psychogenic paranoid psychosis http://purl.obolibrary.org/obo/DOID_0080968 intracranial berry aneurysm 5 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22. http://purl.obolibrary.org/obo/DOID_12217 Lewy body dementia http://purl.obolibrary.org/obo/DOID_1307 dementia A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies. http://purl.obolibrary.org/obo/DOID_0070625 B-lymphoblastic leukemia with NUTM1 rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement. http://purl.obolibrary.org/obo/DOID_13954 obsolete mitotically active variant uterine corpus leiomyoma http://purl.obolibrary.org/obo/DOID_0080969 intracranial berry aneurysm 6 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21. http://purl.obolibrary.org/obo/DOID_1222 cartilage disease http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that is located_in cartilage. http://purl.obolibrary.org/obo/DOID_0070626 B-lymphoblastic leukemia with PAX5alt http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions. http://purl.obolibrary.org/obo/DOID_0070627 B-lymphoblastic leukemia with TCF3-HLF fusion http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement. http://purl.obolibrary.org/obo/DOID_13962 obsolete peripheral focal retinitis and retinochoroiditis http://purl.obolibrary.org/obo/DOID_0080970 intracranial berry aneurysm 7 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25. http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. http://purl.obolibrary.org/obo/DOID_0070628 B-lymphoblastic leukemia with ZNF384 rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement. http://purl.obolibrary.org/obo/DOID_13969 obsolete schizo-affective type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_0080971 intracranial berry aneurysm 8 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23. http://purl.obolibrary.org/obo/DOID_12237 bile reflux http://purl.obolibrary.org/obo/DOID_9741 biliary tract disease A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus. http://purl.obolibrary.org/obo/DOID_0070629 acute myeloid leukemia with CBFA2T3-GLIS2 fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene. http://purl.obolibrary.org/obo/DOID_13970 obsolete schizo-affective type schizophrenia chronic state http://purl.obolibrary.org/obo/DOID_0080972 intracranial berry aneurysm 9 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1. http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia http://purl.obolibrary.org/obo/DOID_10241 thalassemia A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. http://purl.obolibrary.org/obo/DOID_0070630 acute myeloid leukemia with KAT6A-CREBBP fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion. http://purl.obolibrary.org/obo/DOID_13975 obsolete metastatic tumor to the brain stem http://purl.obolibrary.org/obo/DOID_0080973 intracranial berry aneurysm 10 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1. http://purl.obolibrary.org/obo/DOID_12259 hemophilia B http://purl.obolibrary.org/obo/DOID_0061030 hemophilia A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. http://purl.obolibrary.org/obo/DOID_0070631 acute myeloid leukemia with FUS-ERG fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with FUS-ERG gene fusion. http://purl.obolibrary.org/obo/DOID_13995 obsolete secondary malignant neoplasm to the small Intestine http://purl.obolibrary.org/obo/DOID_14001 obsolete diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder http://purl.obolibrary.org/obo/DOID_0080974 intracranial berry aneurysm 11 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22. http://purl.obolibrary.org/obo/DOID_12270 coloboma http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. http://purl.obolibrary.org/obo/DOID_0070632 acute myeloid leukemia with MNX1-ETV6 fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with MXN1-ETV6 gene fusion. http://purl.obolibrary.org/obo/DOID_1402 obsolete agalactia http://purl.obolibrary.org/obo/DOID_0080975 intracranial berry aneurysm 12 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_12271 aniridia http://purl.obolibrary.org/obo/DOID_240 iris disease An iris disease that is characterized by a complete or partial absence of the colored part of the eye. http://purl.obolibrary.org/obo/DOID_0070633 acute myeloid leukemia with NPM1-MLF1 fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with NPM1-MLF1 gene fusion. http://purl.obolibrary.org/obo/DOID_14038 obsolete precocious puberty http://purl.obolibrary.org/obo/DOID_0080976 acute myeloid leukemia with BCR-ABL1 http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. http://purl.obolibrary.org/obo/DOID_12275 cutaneous diphtheria http://purl.obolibrary.org/obo/DOID_4223 pyoderma A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. http://purl.obolibrary.org/obo/DOID_0061140 ragopathy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates. http://purl.obolibrary.org/obo/DOID_14041 obsolete endocrine tuberculosis http://purl.obolibrary.org/obo/DOID_0080977 aortic valve disease 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. http://purl.obolibrary.org/obo/DOID_12287 Crimean-Congo hemorrhagic fever http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. http://purl.obolibrary.org/obo/SYMP_0000539 jaundice http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by a yellowish pigmentation of the skin, tissues, and certain body fluids is caused by the deposition of bile pigments that follows interference with normal production and discharge of bile (as in certain liver diseases) or excessive breakdown of red blood cells (as after internal hemorrhage or in various hemolytic states). http://purl.obolibrary.org/obo/DOID_14044 obsolete rheumatic pericarditis http://purl.obolibrary.org/obo/DOID_0080978 arthrogryposis multiplex congenita-1 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_1229 paranoid schizophrenia http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. http://purl.obolibrary.org/obo/DOID_0080979 arthrogryposis multiplex congenita-3 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. http://purl.obolibrary.org/obo/ExO_0000014 climate change http://purl.obolibrary.org/obo/ExO_0000007 ecological perturbation An ecological pertubation that is any significant change in measures of climate (such as temperature, precipitation, or wind) lasting for an extended period (decades or longer). It may result from natural factors such as changes in the sun's intensity, natural processes within the climate system such as changes in ocean circulation, or human activities. http://purl.obolibrary.org/obo/DOID_14045 obsolete syndrome of infant of a diabetic mother http://purl.obolibrary.org/obo/DOID_12294 atypical depressive disorder http://purl.obolibrary.org/obo/DOID_3324 mood disorder A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. http://purl.obolibrary.org/obo/DOID_0080980 arthrogryposis multiplex congenita-4 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_12297 Vogt-Koyanagi-Harada disease http://purl.obolibrary.org/obo/DOID_0060039 autoimmune disease of skin and connective tissue An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. http://purl.obolibrary.org/obo/SYMP_0000246 increased appetite http://purl.obolibrary.org/obo/SYMP_0000244 alteration of appetite An alteration of appetite that is characterized by an desire to eat, an excess desire for food. http://purl.obolibrary.org/obo/DOID_14056 obsolete rheumatic endocarditis http://purl.obolibrary.org/obo/DOID_12306 vitiligo http://purl.obolibrary.org/obo/DOID_0060039 autoimmune disease of skin and connective tissue An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. http://purl.obolibrary.org/obo/DOID_0080981 arthrogryposis multiplex congenita-5 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0080982 X-linked intellectual disability-hypotonic facies syndrome-1 http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene on chromosome Xq13. This now comprises several syndromes previously reported separately, including Carpenter-Waziri syndrome, Holmes-Gang syndrome, and Smith-Fineman-Myers syndrome. http://purl.obolibrary.org/obo/DOID_14063 obsolete acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/SYMP_0000600 apnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by transient cessation of respiration whether normal (as in hibernating animals) or abnormal (as that caused by certain drugs). http://purl.obolibrary.org/obo/DOID_12308 Dubin-Johnson syndrome http://purl.obolibrary.org/obo/DOID_2741 bilirubin metabolic disorder A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. http://purl.obolibrary.org/obo/DOID_0080984 X-linked intellectual developmental disorder 109 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. http://purl.obolibrary.org/obo/DOID_14072 obsolete neoplastic pregnancy complications http://purl.obolibrary.org/obo/SYMP_0000748 facial edema http://purl.obolibrary.org/obo/SYMP_0000538 edema An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the face. http://purl.obolibrary.org/obo/SYMP_0000421 hematochezia http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom hematochezia is a feces and droppings symptom characterized by the passage of fresh blood per anus, usually in or with stools. http://purl.obolibrary.org/obo/DOID_12318 granular corneal dystrophy http://purl.obolibrary.org/obo/DOID_0060441 epithelial-stromal TGFBI dystrophy An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea. http://purl.obolibrary.org/obo/DOID_0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. http://purl.obolibrary.org/obo/DOID_14090 obsolete heartwater disease http://purl.obolibrary.org/obo/SYMP_0000844 face hyperemia http://purl.obolibrary.org/obo/SYMP_0000387 head symptom Hyperemia of the face is a head symptom consisting of an excess of blood in the tissues of the face as from an increased flow of blood due to vasodilation. http://purl.obolibrary.org/obo/DOID_12323 cough variant asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath. http://purl.obolibrary.org/obo/DOID_12328 marasmus http://purl.obolibrary.org/obo/DOID_11801 protein-energy malnutrition A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation. http://purl.obolibrary.org/obo/DOID_0080986 Ehlers-Danlos syndrome periodontal type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_14108 obsolete syphilitic peritonitis http://purl.obolibrary.org/obo/DOID_14114 obsolete congenital adhesion of tongue http://purl.obolibrary.org/obo/DOID_14117 obsolete group A hyperlipidemia http://purl.obolibrary.org/obo/NCIT_C14329 Microorganism http://purl.obolibrary.org/obo/DISDRIV_0000003 biological driver A biological agent that is a microorganism, including bacteria, viruses, or fungi. A microscopic organism. The term microorganism may refer to a prokaryote or eukaryote, and may be a unicellular or multicellular organism. All taxonomic kingdoms contain microorganisms. http://purl.obolibrary.org/obo/DOID_1234 gender incongruence http://purl.obolibrary.org/obo/DOID_0060043 sexual health disorder A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. http://purl.obolibrary.org/obo/DOID_12341 retroperitoneal sarcoma http://purl.obolibrary.org/obo/DOID_5875 retroperitoneal cancer A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. http://purl.obolibrary.org/obo/DOID_12347 osteogenesis imperfecta http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. http://purl.obolibrary.org/obo/DOID_12357 viral labyrinthitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. http://purl.obolibrary.org/obo/DOID_12358 patulous eustachian tube http://purl.obolibrary.org/obo/DOID_9739 eustachian tube disease A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. http://purl.obolibrary.org/obo/DOID_12361 Graves' disease http://purl.obolibrary.org/obo/DOID_0060005 autoimmune disease of endocrine system An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. http://purl.obolibrary.org/obo/DOID_0080987 Ehlers-Danlos syndrome periodontal type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0080988 pretibial dystrophic epidermolysis bullosa http://purl.obolibrary.org/obo/DOID_4959 epidermolysis bullosa dystrophica An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. http://purl.obolibrary.org/obo/DOID_0080990 King Denborough syndrome http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. http://purl.obolibrary.org/obo/DOID_14157 obsolete malnutrition of mild degree http://purl.obolibrary.org/obo/NCIT_C598 Iron http://purl.obolibrary.org/obo/CHEBI_33284 nutrient An important mineral the body needs to make hemoglobin, a substance in the blood that carries oxygen from the lungs to tissues throughout the body. Iron is also an important part of many other proteins and enzymes needed by the body for normal growth and development. It is found in red meat, fish, poultry, lentils, beans, and foods with iron added, such as cereal. http://purl.obolibrary.org/obo/DOID_12365 malaria http://purl.obolibrary.org/obo/DOID_2789 parasitic protozoa infectious disease A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. http://purl.obolibrary.org/obo/DOID_0080991 congenital myopathy 1B http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. http://purl.obolibrary.org/obo/DOID_14163 obsolete metastatic malignant tumor to the anus http://purl.obolibrary.org/obo/NCIT_C603 Isotretinoin http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A chemical driver that is accutane (retinoic acid), a medication primarily used to treat severe acne. http://purl.obolibrary.org/obo/DOID_12369 prolapse of urethra http://purl.obolibrary.org/obo/DOID_732 urethral disease A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening. http://purl.obolibrary.org/obo/DOID_0080992 rhabdomyolysis-myalgia syndrome http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma. http://purl.obolibrary.org/obo/DOID_14178 obsolete immunodeficiency with increased IgM http://purl.obolibrary.org/obo/NCIT_C943 Vitamin K http://purl.obolibrary.org/obo/CHEBI_33229 vitamin (role) The term "vitamin K" refers to a group of chemically similar fat-soluble compounds called naphthoquinones: vitamin K1 (phytonadione) is found in plants and is the primary source of vitamin K for humans through dietary consumption, vitamin K2 compounds (menaquinones) are made by bacteria in the human gut, and vitamin K3 (menadione) is a water-soluble preparation available for adults only. Vitamin K is necessary for the liver to produce the coagulation factors II, VII, IX, and X, as well as the clotting factors protein C, protein S, and protein Z; vitamin K deficiency can result in deficiencies of these coagulation factors and excess bleeding. An injection of vitamin K is routinely given to newborn infants to prevent vitamin K deficiency bleeding, also known as hemorrhagic disease of the newborn. Vitamin K deficiency is rare in adults but may result from chronic malnutrition or an inability to absorb dietary vitamins. http://purl.obolibrary.org/obo/DOID_12375 bronchopneumonia http://purl.obolibrary.org/obo/DOID_552 pneumonia A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. http://purl.obolibrary.org/obo/DOID_12376 juvenile spinal muscular atrophy http://purl.obolibrary.org/obo/DOID_0060160 childhood spinal muscular atrophy A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. http://purl.obolibrary.org/obo/DOID_14182 obsolete metastatic tumor to the choroid http://purl.obolibrary.org/obo/DOID_0080311 Billuart-type X-linked syndromic intellectual developmental disorder http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12. http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy http://purl.obolibrary.org/obo/DOID_231 motor neuron disease A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. http://purl.obolibrary.org/obo/DOID_0112227 tubulinopathy http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes. http://purl.obolibrary.org/obo/DOID_1419 obsolete residual schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_0080312 neurodevelopmental disorder with midbrain and hindbrain malformations http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_12384 dysentery http://purl.obolibrary.org/obo/DOID_100 intestinal infectious disease An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. http://purl.obolibrary.org/obo/DOID_0112228 lissencephaly 9 with complex brainstem malformation http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3. http://purl.obolibrary.org/obo/DOID_0112229 lissencephaly 10 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. http://purl.obolibrary.org/obo/DOID_14190 obsolete shared paranoid disease http://purl.obolibrary.org/obo/DOID_0080313 cleft palate-lateral synechia syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by fusion of maxilla and mandible. http://purl.obolibrary.org/obo/DOID_12385 shigellosis http://purl.obolibrary.org/obo/DOID_5353 colonic disease A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. http://purl.obolibrary.org/obo/DOID_0112230 leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. http://purl.obolibrary.org/obo/DOID_14191 obsolete simple paranoid state http://purl.obolibrary.org/obo/DOID_0080314 cone-rod dystrophy 14 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. http://purl.obolibrary.org/obo/DOID_12386 balantidiasis http://purl.obolibrary.org/obo/DOID_2789 parasitic protozoa infectious disease A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. http://purl.obolibrary.org/obo/DOID_14200 obsolete diplopia http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. http://purl.obolibrary.org/obo/DOID_14215 obsolete hyperamylasemia http://purl.obolibrary.org/obo/DOID_0112231 lissencephaly 7 with cerebellar hypoplasia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. http://purl.obolibrary.org/obo/DOID_12387 nephrogenic diabetes insipidus http://purl.obolibrary.org/obo/DOID_9409 diabetes insipidus A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). http://purl.obolibrary.org/obo/DOID_0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_14258 obsolete leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/DOID_0112232 lissencephaly 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12. http://purl.obolibrary.org/obo/DOID_12388 neurohypophyseal diabetes insipidus http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. http://purl.obolibrary.org/obo/DOID_14263 obsolete fits in newborn http://purl.obolibrary.org/obo/DOID_0112233 lissencephaly 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. http://purl.obolibrary.org/obo/DOID_12399 pathological gambling http://purl.obolibrary.org/obo/DOID_10937 impulse control disorder An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. http://purl.obolibrary.org/obo/DOID_0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. http://purl.obolibrary.org/obo/DOID_1427 obsolete disorder of pancreatic internal secretion http://purl.obolibrary.org/obo/DOID_0112234 microlissencephaly http://purl.obolibrary.org/obo/DOID_0050453 lissencephaly A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly. http://purl.obolibrary.org/obo/DOID_1240 leukemia http://purl.obolibrary.org/obo/DOID_2531 hematologic cancer A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. http://purl.obolibrary.org/obo/DOID_0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). http://purl.obolibrary.org/obo/DOID_14278 obsolete arthropathy of the hand http://purl.obolibrary.org/obo/DOID_0112235 lissencephaly 4 http://purl.obolibrary.org/obo/DOID_0112234 microlissencephaly A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. http://purl.obolibrary.org/obo/DOID_12400 kleptomania http://purl.obolibrary.org/obo/DOID_10937 impulse control disorder An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. http://purl.obolibrary.org/obo/DOID_0080583 Wolfram syndrome, mitochondrial form http://purl.obolibrary.org/obo/DOID_10632 Wolfram syndrome A Wolfram syndrome that has_material_basis_in mutation in mtDNA. http://purl.obolibrary.org/obo/DOID_14312 obsolete nontoxic uninodular goiter http://purl.obolibrary.org/obo/DOID_0112236 lissencephaly 6 http://purl.obolibrary.org/obo/DOID_0112234 microlissencephaly A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_0112238 X-linked lissencephaly 2 http://purl.obolibrary.org/obo/DOID_0050735 X-linked monogenic disease A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. http://purl.obolibrary.org/obo/DOID_12401 intermittent explosive disorder http://purl.obolibrary.org/obo/DOID_10937 impulse control disorder An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. http://purl.obolibrary.org/obo/DOID_0080584 autosomal dominant Wolfram syndrome http://purl.obolibrary.org/obo/DOID_10632 Wolfram syndrome A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_14313 obsolete thyroid nodule http://purl.obolibrary.org/obo/DOID_0112239 X-linked lissencephaly 1 http://purl.obolibrary.org/obo/DOID_0050735 X-linked monogenic disease A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. http://purl.obolibrary.org/obo/DOID_12402 pyromania http://purl.obolibrary.org/obo/DOID_10937 impulse control disorder An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. http://purl.obolibrary.org/obo/DOID_0080585 Van Maldergem syndrome 1 http://purl.obolibrary.org/obo/DOID_0060238 Van Maldergem syndrome A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_14327 obsolete gonococcal pericarditis http://purl.obolibrary.org/obo/DOID_0112240 Leber congenital amaurosis with early-onset deafness http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_12403 tinea pedis http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. http://purl.obolibrary.org/obo/DOID_0080586 Van Maldergem syndrome 2 http://purl.obolibrary.org/obo/DOID_0060238 Van Maldergem syndrome A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. http://purl.obolibrary.org/obo/DOID_14339 obsolete paraphrenia http://purl.obolibrary.org/obo/DOID_0112241 multiple benign circumferential skin creases on limbs http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. http://purl.obolibrary.org/obo/DOID_1242 globe disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that involves the globe of the eye. http://purl.obolibrary.org/obo/DOID_0080587 congenital myasthenic syndrome 22 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. http://purl.obolibrary.org/obo/DOID_14363 obsolete congenital syphilitic meningitis http://purl.obolibrary.org/obo/DOID_0112242 congenital symmetric circumferential skin creases 1 http://purl.obolibrary.org/obo/DOID_0112241 multiple benign circumferential skin creases on limbs A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_0112243 congenital symmetric circumferential skin creases 2 http://purl.obolibrary.org/obo/DOID_0112241 multiple benign circumferential skin creases on limbs A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. http://purl.obolibrary.org/obo/DOID_0112244 alopecia, neurologic defects, and endocrinopathy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. http://purl.obolibrary.org/obo/DOID_0112246 glutaric acidemia type 3 http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1. http://purl.obolibrary.org/obo/DOID_1243 labia minora cancer http://purl.obolibrary.org/obo/DOID_4159 skin cancer A vulva cancer that is located_in the labium minora. http://purl.obolibrary.org/obo/DOID_0111279 psoriasis 7 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R. http://purl.obolibrary.org/obo/DOID_14401 obsolete cutis marmorata http://purl.obolibrary.org/obo/DOID_0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency http://purl.obolibrary.org/obo/DOID_3765 pseudohermaphroditism A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_12449 aplastic anemia http://purl.obolibrary.org/obo/DOID_720 normocytic anemia A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. http://purl.obolibrary.org/obo/DOID_0111280 psoriasis 4 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_1442 obsolete Alpers syndrome http://purl.obolibrary.org/obo/DOID_0112249 GAPO syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. http://purl.obolibrary.org/obo/DOID_1245 vulva cancer http://purl.obolibrary.org/obo/DOID_2059 vulvar disease A female reproductive organ cancer that is located_in the vulva. http://purl.obolibrary.org/obo/DOID_0111281 psoriasis 15 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1. http://purl.obolibrary.org/obo/DOID_14425 obsolete secondary malignant neoplasm of intra-abdominal lymph node http://purl.obolibrary.org/obo/DOID_0112250 Gaucher's disease type IIIC http://purl.obolibrary.org/obo/DOID_0110959 Gaucher's disease type III A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_12450 pancytopenia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets. http://purl.obolibrary.org/obo/DOID_0111282 psoriasis 5 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_14426 obsolete secondary malignant neoplasm of intrathoracic lymph node http://purl.obolibrary.org/obo/DOID_0112251 Ghosal hematodiaphyseal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. http://purl.obolibrary.org/obo/DOID_0111283 psoriasis 3 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 4q. http://purl.obolibrary.org/obo/DOID_14467 obsolete drug-induced persisting amnestic disease http://purl.obolibrary.org/obo/DOID_0112252 congenital nonspherocytic hemolytic anemia 6 http://purl.obolibrary.org/obo/DOID_0080699 glutathione synthetase deficiency A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. http://purl.obolibrary.org/obo/DOID_12474 capillariasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. http://purl.obolibrary.org/obo/DOID_0111284 psoriasis 9 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34. http://purl.obolibrary.org/obo/DOID_14490 obsolete metastasis to the ureter http://purl.obolibrary.org/obo/DOID_14492 obsolete metastatic neoplasm of ureter http://purl.obolibrary.org/obo/DOID_0112253 combined cellular and humoral immune defects with granulomas http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. http://purl.obolibrary.org/obo/DOID_12475 pes anserinus bursitis http://purl.obolibrary.org/obo/DOID_2965 bursitis A bursitis that is characterized by inflammation of the bursal sac beneath the pes anserinus, resulting in: medial knee pain. http://purl.obolibrary.org/obo/DOID_0111285 psoriasis 11 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B. http://purl.obolibrary.org/obo/DOID_145 obsolete papilledema associated with retinal disorder http://purl.obolibrary.org/obo/DOID_0112255 homocystinuria-megaloblastic anemia cblE type http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. http://purl.obolibrary.org/obo/DOID_125 vagina leiomyoma http://purl.obolibrary.org/obo/DOID_127 leiomyoma A vaginal benign neoplasm that is a benign tumor of smooth muscle cells. http://purl.obolibrary.org/obo/DOID_0112256 homocystinuria-megaloblastic anemia cblG type http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. http://purl.obolibrary.org/obo/DOID_0111286 psoriasis 1 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in the HLA-C gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_14518 obsolete Idiopathic cysts of iris and ciliary body http://purl.obolibrary.org/obo/DOID_12506 Bell's palsy http://purl.obolibrary.org/obo/DOID_13934 facial paralysis A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). http://purl.obolibrary.org/obo/DOID_0112257 hydroxykynureninuria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. http://purl.obolibrary.org/obo/DOID_0111287 psoriasis 13 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_14521 obsolete cutaneous breast cancer http://purl.obolibrary.org/obo/DOID_1251 tuberculous epididymitis http://purl.obolibrary.org/obo/DOID_0080373 epididymis disease An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. http://purl.obolibrary.org/obo/DOID_0112258 N-acetylglutamate synthase deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_0111288 psoriasis 8 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease. http://purl.obolibrary.org/obo/DOID_14530 obsolete syringomyelia and syringobulbia http://purl.obolibrary.org/obo/DOID_12510 retinal ischemia http://purl.obolibrary.org/obo/DOID_326 ischemia An ischemia that is characterized by restriction in blood supply to the retina. http://purl.obolibrary.org/obo/DOID_0112259 Leydig cell hypoplasia http://purl.obolibrary.org/obo/DOID_3765 pseudohermaphroditism A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/DOID_0111289 psoriasis 10 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23. http://purl.obolibrary.org/obo/DOID_14539 obsolete metastasis to heart http://purl.obolibrary.org/obo/DOID_1252 trichuriasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. http://purl.obolibrary.org/obo/DOID_0112260 Leydig cell hypoplasia type I http://purl.obolibrary.org/obo/DOID_0112259 Leydig cell hypoplasia A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/DOID_0111290 psoriasis 6 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG. http://purl.obolibrary.org/obo/DOID_14542 obsolete macular or paramacular focal retinitis and retinochoroiditis http://purl.obolibrary.org/obo/DOID_12522 bagassosis http://purl.obolibrary.org/obo/DOID_841 extrinsic allergic alveolitis An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. http://purl.obolibrary.org/obo/DOID_0112261 Leydig cell hypoplasia type II http://purl.obolibrary.org/obo/DOID_0112259 Leydig cell hypoplasia A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/DOID_0111291 psoriasis 12 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114. http://purl.obolibrary.org/obo/DOID_14549 obsolete Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear http://purl.obolibrary.org/obo/DOID_12531 von Willebrand's disease http://purl.obolibrary.org/obo/DOID_0061030 hemophilia A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. http://purl.obolibrary.org/obo/DOID_0112262 leucine-sensitive hypoglycemia of infancy http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1. http://purl.obolibrary.org/obo/DOID_0111293 generalized epilepsy with febrile seizures plus 4 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24. http://purl.obolibrary.org/obo/DOID_14558 obsolete nontoxic multinodular goiter http://purl.obolibrary.org/obo/DOID_1254 trichostrongylosis http://purl.obolibrary.org/obo/DOID_1255 trichostrongyloidiasis A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. http://purl.obolibrary.org/obo/DOID_0112263 hypoinsulinemic hypoglycemia with hemihypertrophy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_0111294 generalized epilepsy with febrile seizures plus 2 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3. http://purl.obolibrary.org/obo/DOID_1465 obsolete Salmonella septicemia http://purl.obolibrary.org/obo/DOID_12549 hepatitis A http://purl.obolibrary.org/obo/DOID_1884 viral hepatitis A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. http://purl.obolibrary.org/obo/DOID_0112264 Woodhouse-Sakati syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/DOID_0111295 generalized epilepsy with febrile seizures plus 7 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. http://purl.obolibrary.org/obo/DOID_1466 obsolete Salmonella infectious disease http://purl.obolibrary.org/obo/DOID_1255 trichostrongyloidiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. http://purl.obolibrary.org/obo/DOID_0112265 iminoglycinuria http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_0111296 generalized epilepsy with febrile seizures plus 10 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. http://purl.obolibrary.org/obo/DOID_14676 obsolete congenital contricting bands http://purl.obolibrary.org/obo/DOID_12554 hemolytic-uremic syndrome http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. http://purl.obolibrary.org/obo/DOID_0112266 nephrotic syndrome type 23 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance. http://purl.obolibrary.org/obo/DOID_14680 obsolete hereditary inflammatory vasculitis http://purl.obolibrary.org/obo/DOID_12556 acute kidney tubular necrosis http://purl.obolibrary.org/obo/DOID_3021 acute kidney failure An acute kidney failure that is characterized by necrosis of epithelial tubule cells. http://purl.obolibrary.org/obo/DOID_0112267 nephrotic syndrome type 21 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. http://purl.obolibrary.org/obo/DOID_0111298 familial febrile seizures 8 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. http://purl.obolibrary.org/obo/DOID_1469 obsolete single major depressive episode in full remission http://purl.obolibrary.org/obo/DOID_12557 Duane retraction syndrome http://purl.obolibrary.org/obo/DOID_540 strabismus A strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. http://purl.obolibrary.org/obo/DOID_0112268 nephrotic syndrome type 22 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. http://purl.obolibrary.org/obo/DOID_0111299 generalized epilepsy with febrile seizures plus 8 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31. http://purl.obolibrary.org/obo/DOID_14727 obsolete dominant cogenital severe sensorineural deafness http://purl.obolibrary.org/obo/DOID_14739 obsolete progressive high-tone neural deafness http://purl.obolibrary.org/obo/DOID_14787 obsolete Fryns syndrome http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia http://purl.obolibrary.org/obo/DOID_699 mitochondrial myopathy A mitochondrial myopathy characterized by weakness of extraocular muscles, usually evident from bilateral ptosis and/or ophthalmoplegia, that has_material_basis_in mitochondrial DNA deletions. http://purl.obolibrary.org/obo/DOID_0112269 primary ovarian insufficiency 18 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. http://purl.obolibrary.org/obo/DOID_0111300 generalized epilepsy with febrile seizures plus 6 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21. http://purl.obolibrary.org/obo/DOID_1486 obsolete secondary syphilitic chorioretinitis http://purl.obolibrary.org/obo/DOID_12559 idiopathic juvenile osteoporosis http://purl.obolibrary.org/obo/DOID_11476 osteoporosis An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. http://purl.obolibrary.org/obo/DOID_0112270 spermatogenic failure 52 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. http://purl.obolibrary.org/obo/DOID_0111301 generalized epilepsy with febrile seizures plus 9 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_1487 obsolete secondary syphilitic uveitis http://purl.obolibrary.org/obo/DOID_12566 ulceration of vulva http://purl.obolibrary.org/obo/DOID_2059 vulvar disease A vulvar disease that is characterized by the presence of ulcers. http://purl.obolibrary.org/obo/DOID_12568 dyscalculia http://purl.obolibrary.org/obo/DOID_8927 learning disability A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. http://purl.obolibrary.org/obo/DOID_0112271 spermatogenic failure 49 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. http://purl.obolibrary.org/obo/DOID_0111302 generalized epilepsy with febrile seizures plus 1 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11. http://purl.obolibrary.org/obo/DOID_1491 obsolete corneal anesthesia and hypoesthesia http://purl.obolibrary.org/obo/DOID_12570 phacolytic glaucoma http://purl.obolibrary.org/obo/DOID_12571 phacogenic glaucoma A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins. http://purl.obolibrary.org/obo/DOID_0112272 spermatogenic failure 50 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1. http://purl.obolibrary.org/obo/DOID_0111303 familial febrile seizures 9 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23. http://purl.obolibrary.org/obo/DOID_1499 obsolete Vibrio infectious disease http://purl.obolibrary.org/obo/DOID_12571 phacogenic glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss. http://purl.obolibrary.org/obo/DOID_0111304 familial febrile seizures 10 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33. http://purl.obolibrary.org/obo/DOID_0112273 spermatogenic failure 51 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33. http://purl.obolibrary.org/obo/DOID_0112274 X-linked spermatogenic failure 3 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. http://purl.obolibrary.org/obo/DOID_1511 obsolete residual schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_12580 Cri-Du-Chat syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. http://purl.obolibrary.org/obo/DOID_0111305 familial febrile seizures 4 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. http://purl.obolibrary.org/obo/DOID_0112275 developmental and epileptic encephalopathy 93 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. http://purl.obolibrary.org/obo/DOID_1515 obsolete mitral valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_12581 olecranon bursitis http://purl.obolibrary.org/obo/DOID_2965 bursitis A bursitis that is characterized by an inflammation of the bursa, located at the tip of the elbow (olecranon process). http://purl.obolibrary.org/obo/DOID_0111306 familial febrile seizures 5 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. http://purl.obolibrary.org/obo/DOID_0112276 neurodevelopmental disorder with involuntary movements http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13. http://purl.obolibrary.org/obo/DOID_1516 obsolete syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_12583 velocardiofacial syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. http://purl.obolibrary.org/obo/DOID_0111307 familial febrile seizures 1 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21. http://purl.obolibrary.org/obo/DOID_0112277 immunodeficiency 79 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_1528 obsolete penile non-neoplastic disease http://purl.obolibrary.org/obo/DOID_12594 Potter's syndrome http://purl.obolibrary.org/obo/DOID_14766 renal agenesis A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus. http://purl.obolibrary.org/obo/DOID_0111308 familial febrile seizures 11 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2. http://purl.obolibrary.org/obo/DOID_0112278 primary ovarian insufficiency 19 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_1530 obsolete male non-neoplastic reproductive system disease http://purl.obolibrary.org/obo/DOID_12603 acute leukemia http://purl.obolibrary.org/obo/DOID_1037 lymphoid leukemia A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream. http://purl.obolibrary.org/obo/DOID_0111309 familial febrile seizures 6 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. http://purl.obolibrary.org/obo/DOID_0112279 spermatogenic failure 53 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_1543 obsolete metastatic neoplasm of parathyroid http://purl.obolibrary.org/obo/DOID_12637 perineocele http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse. http://purl.obolibrary.org/obo/DOID_0111310 familial febrile seizures 2 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0112282 spondyloepiphyseal dysplasia Kimberley type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_155 obsolete glandular and epithelial neoplasm http://purl.obolibrary.org/obo/DOID_12638 hypertrophic pyloric stenosis http://purl.obolibrary.org/obo/DOID_12639 pyloric stenosis A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. http://purl.obolibrary.org/obo/DOID_0111311 familial febrile seizures 7 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in heterozygous mutation. http://purl.obolibrary.org/obo/DOID_0112283 spondyloepiphyseal dysplasia Kondo-Fu type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. http://purl.obolibrary.org/obo/DOID_1550 obsolete gestational diabetes complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_12662 paracoccidioidomycosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. http://purl.obolibrary.org/obo/DOID_0111324 juvenile absence epilepsy 1 http://purl.obolibrary.org/obo/DOID_0060172 juvenile absence epilepsy A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2. http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth. http://purl.obolibrary.org/obo/DOID_1568 obsolete calculus of gallbladder and bile duct with acute and chronic cholecystitis http://purl.obolibrary.org/obo/DOID_12663 blastomycosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. http://purl.obolibrary.org/obo/DOID_0111325 juvenile myoclonic epilepsy 10 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1. http://purl.obolibrary.org/obo/DOID_0112285 autosomal dominant spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. http://purl.obolibrary.org/obo/DOID_1585 obsolete rheumatic pneumonia http://purl.obolibrary.org/obo/DOID_12680 pseudobulbar palsy http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts. http://purl.obolibrary.org/obo/DOID_0111326 juvenile myoclonic epilepsy 3 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma. http://purl.obolibrary.org/obo/DOID_0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. http://purl.obolibrary.org/obo/DOID_0112288 spondyloepiphyseal dysplasia Nishimura type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0112289 spondyloepiphyseal dysplasia tarda with characteristic facies http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. http://purl.obolibrary.org/obo/DOID_159 obsolete mesothelial neoplasm http://purl.obolibrary.org/obo/DOID_12683 vestibular neuronitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. http://purl.obolibrary.org/obo/DOID_12685 mixed receptive-expressive language disorder http://purl.obolibrary.org/obo/DOID_2033 communication disorder A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. http://purl.obolibrary.org/obo/DOID_0111327 juvenile myoclonic epilepsy 4 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14. http://purl.obolibrary.org/obo/DOID_0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. http://purl.obolibrary.org/obo/DOID_1592 obsolete secondary malignant neoplasm of retroperitoneum and peritoneum http://purl.obolibrary.org/obo/DOID_12697 locked-in syndrome http://purl.obolibrary.org/obo/DOID_863 nervous system disease A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. http://purl.obolibrary.org/obo/DOID_0111328 juvenile myoclonic epilepsy 9 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36. http://purl.obolibrary.org/obo/DOID_0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. http://purl.obolibrary.org/obo/DOID_1593 obsolete metastasis to the peritoneum http://purl.obolibrary.org/obo/DOID_12698 gynecomastia http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. http://purl.obolibrary.org/obo/DOID_0111329 pyridoxamine 5'-phosphate oxidase deficiency http://purl.obolibrary.org/obo/DOID_0050718 vitamin metabolic disorder A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. http://purl.obolibrary.org/obo/DOID_0112292 spondyloepiphyseal dysplasia tarda with impaired intellectual development http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. http://purl.obolibrary.org/obo/DOID_1597 obsolete single episode mild major depression http://purl.obolibrary.org/obo/DOID_127 leiomyoma http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A cell type benign neoplasm that is a benign tumor of smooth muscle cells. http://purl.obolibrary.org/obo/DOID_0111330 combined saposin deficiency http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1. http://purl.obolibrary.org/obo/DOID_0112293 autosomal recessive spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. http://purl.obolibrary.org/obo/DOID_0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. http://purl.obolibrary.org/obo/DOID_1599 obsolete single episode moderate major depression http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. http://purl.obolibrary.org/obo/DOID_1270 hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. http://purl.obolibrary.org/obo/DOID_0080588 agammaglobulinemia 5 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_1620 obsolete breast fibroepithelial tumor http://purl.obolibrary.org/obo/DOID_0112296 spondylometaphyseal dysplasia Algerian type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_12700 hyperprolactinemia http://purl.obolibrary.org/obo/DOID_0060158 acquired metabolic disease An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. http://purl.obolibrary.org/obo/DOID_0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. http://purl.obolibrary.org/obo/DOID_1624 obsolete breast soft tissue tumor http://purl.obolibrary.org/obo/DOID_0112297 spondylometaphyseal dysplasia corner fracture type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_12704 ataxia telangiectasia http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. http://purl.obolibrary.org/obo/DOID_0111332 Pitt-Hopkins-like syndrome 2 http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/DOID_163 obsolete mucoepidermoid tumor http://purl.obolibrary.org/obo/DOID_0112298 spondylometaphyseal dysplasia Sedaghatian type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_1271 capillary disease http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is located_in the capillaries. http://purl.obolibrary.org/obo/DOID_0111333 congenital myopathy 10A http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. http://purl.obolibrary.org/obo/DOID_12711 black piedra http://purl.obolibrary.org/obo/DOID_0050133 superficial mycosis A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. http://purl.obolibrary.org/obo/DOID_1634 obsolete breast papillomatosis http://purl.obolibrary.org/obo/DOID_0112299 axial spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_0111334 congenital leptin deficiency http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). http://purl.obolibrary.org/obo/DOID_164 obsolete cystic, mucinous, and serous neoplasm http://purl.obolibrary.org/obo/DOID_0112300 spondylometaphyseal dysplasia with cone-rod dystrophy http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_0111335 myopathy with extrapyramidal signs http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/DOID_12714 Ellis-Van Creveld syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. http://purl.obolibrary.org/obo/DOID_0111336 craniofacial-deafness-hand syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. http://purl.obolibrary.org/obo/DOID_1661 obsolete malignant intracranial germ cell neoplasm http://purl.obolibrary.org/obo/DOID_0112301 spondylometaphyseal dysplasia type A4 http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. http://purl.obolibrary.org/obo/DOID_12716 newborn respiratory distress syndrome http://purl.obolibrary.org/obo/DOID_11162 respiratory failure A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. http://purl.obolibrary.org/obo/DOID_0111337 Jackson-Weiss syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. http://purl.obolibrary.org/obo/DOID_1666 obsolete hip enthesopathy http://purl.obolibrary.org/obo/DOID_0112302 spondylometaphyseal dysplasia East African type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies. http://purl.obolibrary.org/obo/DOID_12718 chronic gonococcal salpingitis http://purl.obolibrary.org/obo/DOID_5731 chronic salpingitis A chronic salpingitis that is caused by gonorrhea. http://purl.obolibrary.org/obo/DOID_0111338 isolated elevated serum creatine phosphokinase levels http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. http://purl.obolibrary.org/obo/DOID_1667 obsolete peripheral enthesopathy http://purl.obolibrary.org/obo/DOID_0112303 spondylometaphyseal dysplasia with corneal dystrophy http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/DOID_12720 cerebral atherosclerosis http://purl.obolibrary.org/obo/DOID_1936 atherosclerosis An atherosclerosis of the cerebral vasculature. http://purl.obolibrary.org/obo/DOID_0111339 Vohwinkel syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. http://purl.obolibrary.org/obo/DOID_1685 obsolete glaucoma associated with vascular disorder http://purl.obolibrary.org/obo/DOID_0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. http://purl.obolibrary.org/obo/DOID_0111340 dominant optic atrophy plus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_1273 respiratory syncytial virus infectious disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. http://purl.obolibrary.org/obo/DOID_1695 obsolete congenital ichthyosis http://purl.obolibrary.org/obo/DOID_0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. http://purl.obolibrary.org/obo/DOID_0111341 primary failure of tooth eruption http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. http://purl.obolibrary.org/obo/DOID_12735 hernia of ovary and fallopian tube http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall. http://purl.obolibrary.org/obo/DOID_1699 obsolete congenital ichthyosiform erythroderma http://purl.obolibrary.org/obo/DOID_0112306 Mahvash Disease http://purl.obolibrary.org/obo/DOID_1428 endocrine pancreas disease An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0111342 dermatopathia pigmentosa reticularis http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_12750 cyclosporiasis http://purl.obolibrary.org/obo/DOID_2113 coccidiosis A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. http://purl.obolibrary.org/obo/DOID_1709 obsolete rickettsiosis http://purl.obolibrary.org/obo/DOID_0112307 sarcosinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2. http://purl.obolibrary.org/obo/DOID_0111343 lateral meningocele syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12. http://purl.obolibrary.org/obo/DOID_12783 migraine without aura http://purl.obolibrary.org/obo/DOID_6364 migraine A migraine that is characterized by migraine headaches that are not accompanied by an aura. http://purl.obolibrary.org/obo/DOID_1741 obsolete drug-induced psychotic disease with delusion http://purl.obolibrary.org/obo/DOID_0080995 tuberculous encephalopathy http://purl.obolibrary.org/obo/DOID_399 tuberculosis A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state. http://purl.obolibrary.org/obo/DOID_0111344 myeloproliferative disorder with eosinophilia http://purl.obolibrary.org/obo/DOID_2226 myeloproliferative neoplasm A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. http://purl.obolibrary.org/obo/DOID_12797 hallucinogen abuse http://purl.obolibrary.org/obo/DOID_302 substance abuse A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. http://purl.obolibrary.org/obo/DOID_1744 obsolete malignant lymphatic vessel tumor http://purl.obolibrary.org/obo/DOID_0080996 diffuse large B-cell lymphoma activated B-cell type http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. http://purl.obolibrary.org/obo/DOID_0111345 transient bullous dermolysis of the newborn http://purl.obolibrary.org/obo/DOID_4959 epidermolysis bullosa dystrophica An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. http://purl.obolibrary.org/obo/DOID_2214 obsolete inherited blood coagulation disease http://purl.obolibrary.org/obo/DOID_0080997 diffuse large B-cell lymphoma germinal center B-cell type http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. http://purl.obolibrary.org/obo/DOID_0111346 epidermolysis bullosa simplex 2F with mottled pigmentation http://purl.obolibrary.org/obo/DOID_4644 epidermolysis bullosa simplex An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in the keratin-5 gene (KRT5) on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_12799 mucopolysaccharidosis II http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. http://purl.obolibrary.org/obo/DOID_2481 obsolete infantile epileptic encephalopathy http://purl.obolibrary.org/obo/DOID_0080998 acute necrotizing pancreatitis http://purl.obolibrary.org/obo/DOID_2913 acute pancreatitis An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. http://purl.obolibrary.org/obo/DOID_0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails http://purl.obolibrary.org/obo/DOID_0080224 autosomal dominant dystrophic epidermolysis bullosa An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. http://purl.obolibrary.org/obo/DOID_12800 mucopolysaccharidosis VI http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. http://purl.obolibrary.org/obo/DOID_715 obsolete T-cell lymphoblastic leukemia/lymphoma http://purl.obolibrary.org/obo/DOID_0080999 acute hemorrhagic pancreatitis http://purl.obolibrary.org/obo/DOID_2913 acute pancreatitis An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. http://purl.obolibrary.org/obo/DOID_0111348 multiple epiphyseal dysplasia with myopia and deafness http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. http://purl.obolibrary.org/obo/DOID_12801 mucopolysaccharidosis III http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. http://purl.obolibrary.org/obo/NCBITaxon_1 ncbitaxon http://purl.obolibrary.org/obo/DOID_0081000 Cowden syndrome 4 http://purl.obolibrary.org/obo/DOID_6457 Cowden syndrome A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. http://purl.obolibrary.org/obo/DOID_0111349 hereditary desmoid disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. http://purl.obolibrary.org/obo/DOID_12802 mucopolysaccharidosis I http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. http://purl.obolibrary.org/obo/UBERON_0001062 anatomy http://purl.obolibrary.org/obo/DOID_0081003 Cowden syndrome 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_0111350 Laurin-Sandrow syndrome http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. http://purl.obolibrary.org/obo/DOID_12803 mucopolysaccharidosis type VII http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_0081005 parsley allergy http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy A vegetable allergy triggered by parsley (Petroselinum). http://purl.obolibrary.org/obo/DOID_0111351 D-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. http://purl.obolibrary.org/obo/DOID_12804 mucopolysaccharidosis IV http://purl.obolibrary.org/obo/DOID_12798 mucopolysaccharidosis A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/DOID_0081006 dill allergy http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy A food allergy triggered by dill (Anethum graveolens). http://purl.obolibrary.org/obo/DOID_0111352 D-2-hydroxyglutaric aciduria 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. http://purl.obolibrary.org/obo/DOID_1283 enterocele http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall. http://purl.obolibrary.org/obo/DOID_0080220 obsolete major affective disorder 1 http://purl.obolibrary.org/obo/DOID_0081007 RNASET2-deficient cystic leukoencephalopathy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. http://purl.obolibrary.org/obo/DOID_0111353 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/DOID_0050763 ARC syndrome An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening. http://purl.obolibrary.org/obo/DOID_0080221 obsolete major affective disorder 2 http://purl.obolibrary.org/obo/DOID_0081008 Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0111354 arthrogryposis, renal dysfunction, and cholestasis 2 http://purl.obolibrary.org/obo/DOID_0050763 ARC syndrome An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. http://purl.obolibrary.org/obo/DOID_12841 ancylostomiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. http://purl.obolibrary.org/obo/DOID_0080229 obsolete autosomal dominant mental retardation 61 http://purl.obolibrary.org/obo/DOID_0081010 Bardet-Biedl syndrome 21 http://purl.obolibrary.org/obo/DOID_1935 Bardet-Biedl syndrome A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_0111355 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/DOID_0050779 hydrolethalus syndrome A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. http://purl.obolibrary.org/obo/DOID_12842 Guillain-Barre syndrome http://purl.obolibrary.org/obo/DOID_0060033 autoimmune disease of peripheral nervous system An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_0080340 obsolete X-linked dominant disease http://purl.obolibrary.org/obo/DOID_0081011 Bardet-Biedl syndrome 22 http://purl.obolibrary.org/obo/DOID_1935 Bardet-Biedl syndrome A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. http://purl.obolibrary.org/obo/DOID_0111356 hydrolethalus syndrome 2 http://purl.obolibrary.org/obo/DOID_0050779 hydrolethalus syndrome A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_12849 autistic disorder http://purl.obolibrary.org/obo/DOID_0060041 autism spectrum disorder An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. http://purl.obolibrary.org/obo/DOID_0080341 obsolete X-linked recessive disease http://purl.obolibrary.org/obo/DOID_0081012 critical COVID-19 http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. http://purl.obolibrary.org/obo/DOID_0080696 Winchester syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. http://purl.obolibrary.org/obo/DOID_12857 retrocalcaneal bursitis http://purl.obolibrary.org/obo/DOID_2965 bursitis A bursitis that is characterized by an inflammation of the bursa, a fluid-filled sac that cushions the Achilles tendon where it attaches to the heel bone (calcaneus). http://purl.obolibrary.org/obo/doid#chebi chebi http://purl.obolibrary.org/obo/DOID_0081013 severe COVID-19 http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. http://purl.obolibrary.org/obo/DOID_0080697 Opitz GBBB syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_12858 Huntington's disease http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. http://purl.obolibrary.org/obo/DOID_0080783 obsolete X-linked sensorineural deafness http://purl.obolibrary.org/obo/DOID_0081014 non-severe COVID-19 http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. http://purl.obolibrary.org/obo/DOID_0080698 Teebi hypertelorism syndrome 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. http://purl.obolibrary.org/obo/DOID_12859 choreatic disease http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_0081015 congenital fibrosis of the extraocular muscles 1 http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. http://purl.obolibrary.org/obo/DOID_0080699 glutathione synthetase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by the lack of glutathione production. http://purl.obolibrary.org/obo/DOID_1287 cardiovascular system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/DOID_0081016 congenital fibrosis of the extraocular muscles 2 http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0080700 caudal regression syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by impairment of the development of the lower half of the body. http://purl.obolibrary.org/obo/DOID_12883 hypochondriasis http://purl.obolibrary.org/obo/DOID_4737 somatoform disorder A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. http://purl.obolibrary.org/obo/DOID_0070175 obsolete spermatogenic failure 9 http://purl.obolibrary.org/obo/DOID_0081017 congenital fibrosis of the extraocular muscles 3A http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0080702 medulloblastoma WNT activated http://purl.obolibrary.org/obo/DOID_0050902 medulloblastoma A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. http://purl.obolibrary.org/obo/DOID_12889 Miller Fisher syndrome http://purl.obolibrary.org/obo/DOID_12842 Guillain-Barre syndrome A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_0081019 congenital fibrosis of the extraocular muscles 3C http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). http://purl.obolibrary.org/obo/DOID_0080703 medulloblastoma SHH activated http://purl.obolibrary.org/obo/DOID_0050902 medulloblastoma A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that results in the progressive deterioration of function or structure of neurons. http://purl.obolibrary.org/obo/MIM_607681 obsolete susceptibility to childhood absence epilepsy 2 http://purl.obolibrary.org/obo/DOID_0081020 congenital fibrosis of the extraocular muscles 5 http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. http://purl.obolibrary.org/obo/DOID_0080704 medulloblastoma SHH activated and TP53 mutant http://purl.obolibrary.org/obo/DOID_0080703 medulloblastoma SHH activated A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. http://purl.obolibrary.org/obo/DOID_12894 Sjogren's syndrome http://purl.obolibrary.org/obo/DOID_0060029 autoimmune disease of exocrine system An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. http://purl.obolibrary.org/obo/MIM_615032 obsolete susceptibility to autism 18 http://purl.obolibrary.org/obo/DOID_0081021 Tukel syndrome http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. http://purl.obolibrary.org/obo/DOID_0080705 medulloblastoma SHH activated and TP53 wild-type http://purl.obolibrary.org/obo/DOID_0080703 medulloblastoma SHH activated A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. http://purl.obolibrary.org/obo/DOID_12900 Mikulicz disease http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection. http://purl.obolibrary.org/obo/MIM_616568 obsolete glioma susceptibility 9 http://purl.obolibrary.org/obo/DOID_0081022 cone dystrophy with supernormal rod responses http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_0080706 medulloblastoma non-WNT/non-SHH http://purl.obolibrary.org/obo/DOID_0050902 medulloblastoma A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. http://purl.obolibrary.org/obo/DOID_12919 Plasmodium ovale malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. http://purl.obolibrary.org/obo/RO_0002202 develops from http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/DOID_0081023 retinal cone dystrophy 4 http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0080707 medulloblastoma non-WNT/non-SHH group 3 http://purl.obolibrary.org/obo/DOID_0080706 medulloblastoma non-WNT/non-SHH A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. http://purl.obolibrary.org/obo/DOID_12926 hypodermyiasis http://purl.obolibrary.org/obo/DOID_11080 myiasis A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/DOID_0081024 retinal cone dystrophy 1 http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. http://purl.obolibrary.org/obo/DOID_0080708 medulloblastoma non-WNT/non-SHH group 4 http://purl.obolibrary.org/obo/DOID_0080706 medulloblastoma non-WNT/non-SHH A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 gene mutations, while chromosome 17 abnormalities may be present. http://purl.obolibrary.org/obo/DOID_12927 screw worm infectious disease http://purl.obolibrary.org/obo/DOID_11080 myiasis A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to http://purl.obolibrary.org/obo/DOID_0081025 achromatopsia 6 http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H) on chromosome 12p13. http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 has characteristic http://purl.obolibrary.org/obo/DOID_0081026 benign peritoneal solitary fibrous tumor http://purl.obolibrary.org/obo/DOID_0060117 peritoneal benign neoplasm A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. http://purl.obolibrary.org/obo/RO_0007001 has disease driver http://purl.obolibrary.org/obo/RO_0007000 has driver http://purl.obolibrary.org/obo/DOID_0111898 CK syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_12929 endocardial fibroelastosis http://purl.obolibrary.org/obo/DOID_0050825 endocardium disease An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. http://purl.obolibrary.org/obo/RO_0002452 has symptom http://purl.obolibrary.org/obo/RO_0002200 has phenotype http://purl.obolibrary.org/obo/DOID_0111899 X-linked thrombophilia due to factor IX defect http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. http://purl.obolibrary.org/obo/DOID_1293 labia minora carcinoma http://purl.obolibrary.org/obo/DOID_1294 vulva carcinoma A vulva carcinoma that is located_in the labia minora. http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. http://purl.obolibrary.org/obo/RO_0002241 has exposure stressor http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/DOID_0111900 autosomal dominant thrombophilia due to protein S deficiency http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by abnormalities in the small blood vessels in the brain. http://purl.obolibrary.org/obo/RO_0002200 has phenotype http://purl.obolibrary.org/obo/RO_0016001 has phenotype or disease http://purl.obolibrary.org/obo/DOID_0111901 heparin cofactor II deficiency http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_12934 Kearns-Sayre syndrome http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and one or more of heart block, cerebellar ataxia, or a cerebrospinal fluid protein level above 100 mg/dl, that has_material_basis_in deletion of mitochondrial DNA. Onset is before 20 years of age. http://purl.obolibrary.org/obo/DOID_0112314 autosomal dominant brain small vessel disease 2A http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease A brain small vessel disease characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. http://purl.obolibrary.org/obo/RO_0001020 is allergic trigger for http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/DOID_0111902 thrombophilia due to activated protein C resistance http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. http://purl.obolibrary.org/obo/DOID_1294 vulva carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0112315 brain small vessel disease 3 http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/RO_0001021 is autoimmune trigger for http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/DOID_0111903 thrombophilia due to HRG deficiency http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. http://purl.obolibrary.org/obo/DOID_12960 acrocephalosyndactylia http://purl.obolibrary.org/obo/DOID_11971 synostosis A synostosis that results_in craniosynostosis and syndactyly. http://purl.obolibrary.org/obo/DOID_0112316 methemoglobinemia and ambiguous genitalia http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. http://purl.obolibrary.org/obo/RO_0003304 contributes to condition http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/DOID_0111904 autosomal recessive thrombophilia due to protein C deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. http://purl.obolibrary.org/obo/DOID_12961 Poland syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/RO_0003303 causes condition http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/DOID_0111905 autosomal recessive thrombophilia due to protein S deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. http://purl.obolibrary.org/obo/DOID_12965 subleukemic leukemia http://purl.obolibrary.org/obo/DOID_1240 leukemia A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. http://purl.obolibrary.org/obo/DOID_0112318 Schindler disease type 1 http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/RO_0001022 has allergic trigger http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/DOID_0111906 thrombophilia due to decreased release of PLAT http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls. http://purl.obolibrary.org/obo/DOID_12969 central nervous system leukemia http://purl.obolibrary.org/obo/DOID_5772 central nervous system hematologic cancer A leukemia located_in the central nervous system. http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. http://purl.obolibrary.org/obo/DOID_0112319 Kanzaki disease http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/DOID_0111907 thrombophilia due to thrombin defect http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_12978 Plasmodium vivax malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. http://purl.obolibrary.org/obo/DOID_0112320 Schindler disease type 3 http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/DOID_0111908 thrombophilia due to thrombomodulin defect http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. http://purl.obolibrary.org/obo/DOID_12987 agranulocytosis http://purl.obolibrary.org/obo/DOID_615 leukopenia A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. http://purl.obolibrary.org/obo/DOID_0112321 alacrima, achalasia, and impaired intellectual development syndrome http://purl.obolibrary.org/obo/DOID_5212 congenital disorder of glycosylation A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/DOID_0111909 autosomal dominant thrombophilia due to protein C deficiency http://purl.obolibrary.org/obo/DOID_3756 protein C deficiency A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. http://purl.obolibrary.org/obo/DOID_12995 conduct disorder http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002220 adjacent to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure http://purl.obolibrary.org/obo/DOID_12336 male infertility A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa. http://purl.obolibrary.org/obo/DOID_13026 lobomycosis http://purl.obolibrary.org/obo/DOID_1563 dermatomycosis A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions. http://purl.obolibrary.org/obo/DOID_0112323 pontocerebellar hypoplasia type 1D http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to http://purl.obolibrary.org/obo/DOID_0111911 spermatogenic failure 34 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1. http://purl.obolibrary.org/obo/DOID_13027 transient global amnesia http://purl.obolibrary.org/obo/DOID_10914 amnestic disorder An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. http://purl.obolibrary.org/obo/DOID_13034 relapsing fever http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. http://purl.obolibrary.org/obo/DOID_13035 louse-borne relapsing fever http://purl.obolibrary.org/obo/DOID_13034 relapsing fever A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. http://purl.obolibrary.org/obo/DOID_0112324 pontocerebellar hypoplasia type 11 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to http://purl.obolibrary.org/obo/DOID_0111912 spermatogenic failure 41 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2. http://purl.obolibrary.org/obo/DOID_13036 tick-borne relapsing fever http://purl.obolibrary.org/obo/DOID_13034 relapsing fever A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. http://purl.obolibrary.org/obo/DOID_0112325 pontocerebellar hypoplasia type 14 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. http://purl.obolibrary.org/obo/RO_0004005 has major susceptibility factor http://purl.obolibrary.org/obo/RO_0004000 condition has genetic basis in http://purl.obolibrary.org/obo/DOID_0111913 spermatogenic failure 30 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33. http://purl.obolibrary.org/obo/DOID_13046 acute sphenoidal sinusitis http://purl.obolibrary.org/obo/DOID_10794 sphenoid sinusitis A sphenoid sinusitis which lasts for less than 4 weeks. http://purl.obolibrary.org/obo/DOID_0112326 pontocerebellar hypoplasia type 15 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. http://purl.obolibrary.org/obo/RO_0004000 condition has genetic basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/DOID_0111914 spermatogenic failure 35 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_13050 corpus luteum cyst http://purl.obolibrary.org/obo/DOID_5119 ovarian cyst An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release. http://purl.obolibrary.org/obo/DOID_0112327 pontocerebellar hypoplasia type 12 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/DOID_0111915 spermatogenic failure 33 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0111916 spermatogenic failure 28 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2. http://purl.obolibrary.org/obo/DOID_13060 traumatic glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation. http://purl.obolibrary.org/obo/DOID_1307 dementia http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. http://purl.obolibrary.org/obo/DOID_0112328 pontocerebellar hypoplasia type 2 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/DOID_0111917 spermatogenic failure 43 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. http://purl.obolibrary.org/obo/DOID_13074 tinea unguium http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. http://purl.obolibrary.org/obo/DOID_13078 eumycotic mycetoma http://purl.obolibrary.org/obo/DOID_1563 dermatomycosis A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules. http://purl.obolibrary.org/obo/DOID_0112329 pontocerebellar hypoplasia type 2F http://purl.obolibrary.org/obo/DOID_0112328 pontocerebellar hypoplasia type 2 A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/DOID_0112330 pontocerebellar hypoplasia type 1E http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/DOID_0111918 spermatogenic failure 40 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_13080 Jaccoud's syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity. http://purl.obolibrary.org/obo/DOID_0112331 pontocerebellar hypoplasia type 1F http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. http://purl.obolibrary.org/obo/DOID_0112332 pontocerebellar hypoplasia type 13 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/DOID_0111919 spermatogenic failure 38 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_13087 Lown-Ganong-Levine syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. http://purl.obolibrary.org/obo/DOID_0112333 pontocerebellar hypoplasia type 16 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/DOID_0111920 spermatogenic failure 25 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12. http://purl.obolibrary.org/obo/DOID_13096 Sneddon syndrome http://purl.obolibrary.org/obo/DOID_0050828 artery disease An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_13098 central retinal artery occlusion http://purl.obolibrary.org/obo/DOID_8483 retinal artery occlusion A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. http://purl.obolibrary.org/obo/DOID_0112334 pontocerebellar hypoplasia type 1C http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/DOID_0111921 spermatogenic failure 36 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2. http://purl.obolibrary.org/obo/DOID_13099 Moyamoya disease http://purl.obolibrary.org/obo/DOID_3527 cerebral arterial disease A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. http://purl.obolibrary.org/obo/DOID_0112335 spermatogenic failure 54 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35. http://purl.obolibrary.org/obo/RO_0007000 has driver A relation between two entities, in which one of the entities is any natural or human-influenced factor that directly or indirectly causes a change in the other entity. http://purl.obolibrary.org/obo/DOID_0111922 spermatogenic failure 31 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. http://purl.obolibrary.org/obo/DOID_13109 bladder leiomyoma http://purl.obolibrary.org/obo/DOID_127 leiomyoma A bladder benign neoplasm that derives_from smooth muscle cells. http://purl.obolibrary.org/obo/IDO_0000664 has material basis in Relating the disease to it’s causation (disease and disorder). http://purl.obolibrary.org/obo/DOID_0112336 spermatogenic failure 56 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0111923 spermatogenic failure 42 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22. http://purl.obolibrary.org/obo/DOID_0111924 spermatogenic failure 26 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/DOID_0111925 spermatogenic failure 32 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_0111926 spermatogenic failure 39 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0111927 spermatogenic failure 37 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2. http://purl.obolibrary.org/obo/DOID_0111928 spermatogenic failure 27 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. http://purl.obolibrary.org/obo/DOID_0111929 spermatogenic failure 24 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13. http://purl.obolibrary.org/obo/DOID_0111930 spermatogenic failure 29 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12. http://purl.obolibrary.org/obo/DOID_13117 paronychia http://purl.obolibrary.org/obo/DOID_4123 nail disease A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. http://purl.obolibrary.org/obo/RO#_is_a is_a Relation defining child to partent inheritance type. http://purl.obolibrary.org/obo/DOID_0112337 spermatogenic failure 55 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12. http://purl.obolibrary.org/obo/DOID_0081001 Cowden syndrome 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_13120 protein-deficiency anemia http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by inadequate protein intake. http://purl.obolibrary.org/obo/RO_0002324 developmentally related to http://purl.obolibrary.org/obo/DOID_0112338 spermatogenic failure 57 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. http://purl.obolibrary.org/obo/DOID_0081004 high-grade B-cell lymphoma double-hit/triple-hit http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. http://purl.obolibrary.org/obo/DOID_13129 severe pre-eclampsia http://purl.obolibrary.org/obo/DOID_10591 pre-eclampsia A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. http://purl.obolibrary.org/obo/RO_0000053 has characteristic http://purl.obolibrary.org/obo/DOID_0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31. http://purl.obolibrary.org/obo/DOID_0081360 spastic quadriplegic cerebral palsy 2 http://purl.obolibrary.org/obo/DOID_10970 spastic quadriplegic cerebral palsy A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. http://purl.obolibrary.org/obo/DOID_13133 HELLP syndrome http://purl.obolibrary.org/obo/DOID_13129 severe pre-eclampsia A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. http://purl.obolibrary.org/obo/RO_0001000 derives from http://purl.obolibrary.org/obo/DOID_0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. http://purl.obolibrary.org/obo/DOID_0060920 otosclerosis 1 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_0060921 otosclerosis 2 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. http://purl.obolibrary.org/obo/DOID_13134 hordeolum externum http://purl.obolibrary.org/obo/DOID_9423 blepharitis A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. http://purl.obolibrary.org/obo/DOID_0112360 spondylocostal dysostosis 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. http://purl.obolibrary.org/obo/RO_0003000 produces http://purl.obolibrary.org/obo/RO_0003001 produced by http://purl.obolibrary.org/obo/DOID_0060922 otosclerosis 3 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. http://purl.obolibrary.org/obo/DOID_13137 Werdnig-Hoffmann disease http://purl.obolibrary.org/obo/DOID_0060160 childhood spinal muscular atrophy A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_0112361 spondylocostal dysostosis 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. http://purl.obolibrary.org/obo/RO_0016001 has phenotype or disease http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/DOID_0060923 otosclerosis 4 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. http://purl.obolibrary.org/obo/DOID_13140 suppurative uveitis http://purl.obolibrary.org/obo/DOID_13141 uveitis A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically. http://purl.obolibrary.org/obo/DOID_0112362 spondylocostal dysostosis 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_0112363 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/DOID_0050739 autosomal genetic disease A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0112364 spondylocostal dysostosis 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0112365 spondylocostal dysostosis 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/SYMP_0020000 airway stenosis http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a narrowing in the airway that obstructs the passage of air into the lungs. Examples include tracheal and laryngotracheal stenosis. http://purl.obolibrary.org/obo/so#has_origin has_origin http://purl.obolibrary.org/obo/DOID_0060924 otosclerosis 5 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. http://purl.obolibrary.org/obo/DOID_13141 uveitis http://purl.obolibrary.org/obo/DOID_3480 uveal disease An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. http://purl.obolibrary.org/obo/SYMP_0020001 apthous ulcer http://purl.obolibrary.org/obo/SYMP_0000136 skin ulcer A skin ulcer that is characterized by a small recurrent, painful, round or ovoid ulcers with well-defined erythematous margins, like a halo, and a central yellow or gray floor found in the soft tissue of the oral cavity. http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/DOID_0060925 otosclerosis 7 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. http://purl.obolibrary.org/obo/DOID_0060926 otosclerosis 8 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. http://purl.obolibrary.org/obo/DOID_13145 benign renovascular hypertension http://purl.obolibrary.org/obo/DOID_13143 benign secondary hypertension A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis. http://purl.obolibrary.org/obo/DOID_13146 esophageal candidiasis http://purl.obolibrary.org/obo/DOID_6050 esophageal disease A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. http://purl.obolibrary.org/obo/DOID_13148 acute cystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis A cystitis characterized by a sudden onset or severe symptoms. http://purl.obolibrary.org/obo/DOID_13159 scrotum squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_3445 scrotal carcinoma A squamous cell carcinoma that is located_in the scrotum. http://purl.obolibrary.org/obo/DOID_13166 allergic bronchopulmonary aspergillosis http://purl.obolibrary.org/obo/DOID_13564 aspergillosis An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever. http://purl.obolibrary.org/obo/SYMP_0020004 ageusia http://purl.obolibrary.org/obo/SYMP_0000551 disturbances of sensation of smell and taste A disturbances of sensation of smell and taste that is characterized by a complete loss of taste function of the tongue. http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to http://purl.obolibrary.org/obo/RO_0002321 ecologically related to http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/DOID_0060927 otosclerosis 10 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. http://purl.obolibrary.org/obo/DOID_13189 gout http://purl.obolibrary.org/obo/DOID_848 arthritis An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. http://purl.obolibrary.org/obo/SYMP_0020006 agitation http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a feeling of irritability or severe restlessness. http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/DOID_0060928 otosclerosis 11 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0060929 non-syndromic X-linked intellectual developmental disorder 111 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. http://purl.obolibrary.org/obo/DOID_0070509 Schinzel Giedion syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. http://purl.obolibrary.org/obo/DOID_0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. http://purl.obolibrary.org/obo/DOID_0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/DOID_0070512 neurodevelopmental disorder with hypotonia and speech delay http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. http://purl.obolibrary.org/obo/DOID_1319 brain cancer http://purl.obolibrary.org/obo/DOID_936 brain disease A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. http://purl.obolibrary.org/obo/DOID_0081336 Thomsen disease http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0070363 bradyopsia 1 http://purl.obolibrary.org/obo/DOID_0050335 bradyopsia A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by hypotonia and weakness, usually present from birth. http://purl.obolibrary.org/obo/DOID_0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_13198 endemic goiter http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency. http://purl.obolibrary.org/obo/DOID_13222 submucous uterine fibroid http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is located adjacent to the lining of the uterus. http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid http://purl.obolibrary.org/obo/DOID_0060095 uterine benign neoplasm An uterine benign neoplasm derived from the smooth muscle layer of the uterus. http://purl.obolibrary.org/obo/DOID_13226 oculoglandular tularemia http://purl.obolibrary.org/obo/DOID_2123 tularemia A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. http://purl.obolibrary.org/obo/DOID_0070521 peeling skin syndrome 2 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. http://purl.obolibrary.org/obo/DOID_0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. http://purl.obolibrary.org/obo/DOID_0070515 chromosome 16p11.2 deletion syndrome, 593-kb http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). http://purl.obolibrary.org/obo/DOID_13238 Haverhill fever http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. http://purl.obolibrary.org/obo/DOID_1324 lung cancer http://purl.obolibrary.org/obo/DOID_850 lung disease A respiratory system cancer that is located_in the lung. http://purl.obolibrary.org/obo/DOID_13241 Behcet's disease http://purl.obolibrary.org/obo/DOID_865 vasculitis An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes. http://purl.obolibrary.org/obo/DOID_1325 bronchus cancer http://purl.obolibrary.org/obo/DOID_1176 bronchial disease A respiratory system cancer that is located_in the bronchus. http://purl.obolibrary.org/obo/DOID_0081401 autosomal dominant distal hereditary motor neuronopathy 13 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_0070516 Mitchell syndrome http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_0081395 Harel-Yoon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_13250 diarrhea http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. http://purl.obolibrary.org/obo/DOID_0070525 peeling skin syndrome 6 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_13254 diverticulitis of colon http://purl.obolibrary.org/obo/DOID_7475 diverticulitis A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. http://purl.obolibrary.org/obo/DOID_13258 typhoid fever http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. http://purl.obolibrary.org/obo/DOID_0081406 round cell sarcoma with EWSR1-non-ETS fusion http://purl.obolibrary.org/obo/DOID_3098 small cell sarcoma A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. http://purl.obolibrary.org/obo/DOID_0070595 X-linked spermatogenic failure 4 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0081397 Vissers-Bodmer syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_13268 porphyria http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. http://purl.obolibrary.org/obo/DOID_0070564 dialysis disequilibrium syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma. http://purl.obolibrary.org/obo/DOID_0081398 holoprosencephaly 12 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_13270 erythropoietic protoporphyria http://purl.obolibrary.org/obo/DOID_3133 acute porphyria An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. http://purl.obolibrary.org/obo/DOID_0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_0070522 peeling skin syndrome 3 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13. http://purl.obolibrary.org/obo/DOID_13272 Klebsiella pneumonia http://purl.obolibrary.org/obo/DOID_874 bacterial pneumonia A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. http://purl.obolibrary.org/obo/DOID_0060986 preaxial polydactyly II http://purl.obolibrary.org/obo/DOID_1148 polydactyly A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_0060933 developmental delay, dysmorphic facies, and brain anomalies http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_13276 Mycoplasma pneumoniae pneumonia http://purl.obolibrary.org/obo/DOID_874 bacterial pneumonia A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. http://purl.obolibrary.org/obo/DOID_0051014 atypical autosomal dominant adult-onset demyelinating leukodystrophy http://purl.obolibrary.org/obo/DOID_0051015 adult onset demyelinating leukodystrophy An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. http://purl.obolibrary.org/obo/DOID_0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. http://purl.obolibrary.org/obo/DOID_0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_1328 Rift Valley fever http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus (Phlebovirus riftense), which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. http://purl.obolibrary.org/obo/DOID_0060936 dystonia 28, childhood-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0051015 adult onset demyelinating leukodystrophy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. http://purl.obolibrary.org/obo/DOID_13282 intestinal tuberculosis http://purl.obolibrary.org/obo/DOID_5295 intestinal disease A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. http://purl.obolibrary.org/obo/DOID_0060937 dystonia 30 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_0051016 visceral heterotaxy 1 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_133 vaginal Mullerian papilloma http://purl.obolibrary.org/obo/DOID_0060114 vaginal benign neoplasm A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin. http://purl.obolibrary.org/obo/DOID_0060938 dystonia 31 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0051017 visceral heterotaxy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21. http://purl.obolibrary.org/obo/DOID_13300 Scheuermann's disease http://purl.obolibrary.org/obo/DOID_8125 osteochondrosis An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. http://purl.obolibrary.org/obo/DOID_0060939 dystonia 32 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_0051018 visceral heterotaxy 3 http://purl.obolibrary.org/obo/DOID_0050545 visceral heterotaxy A visceral heterotaxy that has been mapped to chromosome 6q21. http://purl.obolibrary.org/obo/DOID_13306 diphtheritic cystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. http://purl.obolibrary.org/obo/DOID_0060940 dystonia 33 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_0051019 visceral heterotaxy 4 http://purl.obolibrary.org/obo/DOID_0050545 visceral heterotaxy A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_13310 diphtheritic peritonitis http://purl.obolibrary.org/obo/DOID_8283 peritonitis A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. http://purl.obolibrary.org/obo/DOID_0060944 episodic kinesigenic dyskinesia 3 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0051020 visceral heterotaxy 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_13316 exocrine pancreatic insufficiency http://purl.obolibrary.org/obo/DOID_26 pancreas disease A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. http://purl.obolibrary.org/obo/DOID_0060955 dystonia 35, childhood-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. http://purl.obolibrary.org/obo/DOID_0060956 dystonia 37, early-onset with striatal lesions http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. http://purl.obolibrary.org/obo/DOID_0051021 visceral heterotaxy 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia http://purl.obolibrary.org/obo/DOID_9993 hypoglycemia A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. http://purl.obolibrary.org/obo/DOID_0060957 myoclonic dystonia 34 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. http://purl.obolibrary.org/obo/DOID_0051022 visceral heterotaxy 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12. http://purl.obolibrary.org/obo/DOID_13327 anatomical narrow angle borderline glaucoma http://purl.obolibrary.org/obo/DOID_9283 borderline glaucoma A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. http://purl.obolibrary.org/obo/DOID_0060966 dystonia 22, juvenile-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0051023 visceral heterotaxy 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_13328 diabetic cataract http://purl.obolibrary.org/obo/DOID_83 cataract A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus. http://purl.obolibrary.org/obo/DOID_13336 congenital toxoplasmosis http://purl.obolibrary.org/obo/DOID_9965 toxoplasmosis A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. http://purl.obolibrary.org/obo/DOID_0060967 dystonia 22, adult-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. http://purl.obolibrary.org/obo/DOID_0051024 visceral heterotaxy 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_13352 ego-dystonic sexual orientation http://purl.obolibrary.org/obo/DOID_0060043 sexual health disorder A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. http://purl.obolibrary.org/obo/DOID_0070533 long QT syndrome 16 http://purl.obolibrary.org/obo/DOID_2843 long QT syndrome A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common. http://purl.obolibrary.org/obo/DOID_0051025 visceral heterotaxy 11 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_13357 chondromalacia patellae http://purl.obolibrary.org/obo/DOID_2557 chondromalacia A chondromalacia that is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. This occurs when the posterior articular surface of the patella starts losing its density when in a healthy state and becomes softer with subsequent tearing, fissuring, and erosion of the hyaline cartilage. http://purl.obolibrary.org/obo/DOID_0070534 arrhythmogenic left ventricular cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. http://purl.obolibrary.org/obo/DOID_0051026 visceral heterotaxy 12 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/DOID_854 collagen disease A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. http://purl.obolibrary.org/obo/DOID_0070535 arrhythmogenic biventricular cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. http://purl.obolibrary.org/obo/DOID_0051027 visceral heterotaxy 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13365 reading disorder http://purl.obolibrary.org/obo/DOID_8927 learning disability A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. http://purl.obolibrary.org/obo/DOID_0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. http://purl.obolibrary.org/obo/DOID_0051028 autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_13366 Stiff-Person syndrome http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease that is of unknown etiology characterized by progressive rigidity. http://purl.obolibrary.org/obo/DOID_0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. http://purl.obolibrary.org/obo/DOID_0051029 mitochondrial DNA depletion syndrome-21 http://purl.obolibrary.org/obo/DOID_0070329 mitochondrial DNA depletion syndrome A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_13368 tinea profunda http://purl.obolibrary.org/obo/DOID_12179 tinea corporis A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. http://purl.obolibrary.org/obo/DOID_0070538 syndromic X-linked intellectual developmental disorder bain type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. http://purl.obolibrary.org/obo/DOID_0051030 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_13369 tinea manuum http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. http://purl.obolibrary.org/obo/DOID_0070539 Halperin-Birk syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. http://purl.obolibrary.org/obo/DOID_0051031 primary autosomal recessive microcephaly 20 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_13371 scrub typhus http://purl.obolibrary.org/obo/DOID_11256 typhus A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy. http://purl.obolibrary.org/obo/DOID_0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0051032 primary autosomal recessive microcephaly 21 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_13372 alpha 1-antitrypsin deficiency http://purl.obolibrary.org/obo/DOID_2345 plasma protein metabolism disease A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. http://purl.obolibrary.org/obo/DOID_0081431 microcephaly, short stature, and limb abnormalities http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. http://purl.obolibrary.org/obo/DOID_0051033 primary autosomal recessive microcephaly 22 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. http://purl.obolibrary.org/obo/DOID_13374 fibrodysplasia ossificans progressiva http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. http://purl.obolibrary.org/obo/DOID_0081432 microcephaly-micromelia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. http://purl.obolibrary.org/obo/DOID_0051034 primary autosomal recessive microcephaly 23 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_0051035 primary autosomal recessive microcephaly 24 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_13375 temporal arteritis http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. http://purl.obolibrary.org/obo/DOID_0081433 peroxisome biogenesis disorder 4B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. http://purl.obolibrary.org/obo/DOID_0051036 primary autosomal recessive microcephaly 25 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_13378 Kawasaki disease http://purl.obolibrary.org/obo/DOID_1602 lymphadenitis A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities. http://purl.obolibrary.org/obo/DOID_0081434 peroxisome biogenesis disorder 5B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_0051037 autosomal dominant primary microcephaly 26 http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. http://purl.obolibrary.org/obo/DOID_0081435 peroxisome biogenesis disorder 6B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0051038 autosomal dominant primary microcephaly 27 http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13381 pernicious anemia http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. http://purl.obolibrary.org/obo/DOID_0081436 peroxisome biogenesis disorder 7B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_0051039 primary autosomal recessive microcephaly 28 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_13382 megaloblastic anemia http://purl.obolibrary.org/obo/DOID_2361 macrocytic anemia A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. http://purl.obolibrary.org/obo/DOID_0081437 peroxisome biogenesis disorder 8B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0051040 primary autosomal recessive microcephaly 29 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_13386 gastrointestinal anthrax http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. http://purl.obolibrary.org/obo/DOID_0081438 peroxisome biogenesis disorder 9B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_0051041 primary autosomal recessive microcephaly 30 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_13389 labia majora carcinoma http://purl.obolibrary.org/obo/DOID_4159 skin cancer A vulva carcinoma that is located_in the labia majora. http://purl.obolibrary.org/obo/DOID_0081439 peroxisome biogenesis disorder 11B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. http://purl.obolibrary.org/obo/DOID_0061025 familial restrictive cardiomyopathy 6 http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia http://purl.obolibrary.org/obo/DOID_1340 pure red-cell aplasia A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. http://purl.obolibrary.org/obo/DOID_0081440 peroxisome biogenesis disorder 10B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24. http://purl.obolibrary.org/obo/DOID_0061026 hereditary pyropoikilocytosis http://purl.obolibrary.org/obo/DOID_583 hemolytic anemia A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene. http://purl.obolibrary.org/obo/DOID_13399 color blindness http://purl.obolibrary.org/obo/DOID_1432 blindness A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. http://purl.obolibrary.org/obo/DOID_0081441 Nicolaides-Baraitser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_0061027 Duane retraction syndrome 1 http://purl.obolibrary.org/obo/DOID_12557 Duane retraction syndrome A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13. http://purl.obolibrary.org/obo/DOID_134 vaginal glandular tumor http://purl.obolibrary.org/obo/DOID_119 vaginal cancer A vaginal cancer that has_material_basis_in glandular tissue. http://purl.obolibrary.org/obo/DOID_0081442 blepharophimosis-impaired intellectual development syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_0061028 Duane retraction syndrome 2 http://purl.obolibrary.org/obo/DOID_12557 Duane retraction syndrome A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_1340 pure red-cell aplasia http://purl.obolibrary.org/obo/DOID_1342 congenital hypoplastic anemia A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. http://purl.obolibrary.org/obo/DOID_0081443 Stolerman neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0061029 Duane retraction syndrome 3 http://purl.obolibrary.org/obo/DOID_12557 Duane retraction syndrome A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. http://purl.obolibrary.org/obo/DOID_13403 neurosarcoidosis http://purl.obolibrary.org/obo/DOID_11335 sarcoidosis A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system. http://purl.obolibrary.org/obo/DOID_0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0061030 hemophilia http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding. http://purl.obolibrary.org/obo/DOID_13404 uveoparotid fever http://purl.obolibrary.org/obo/DOID_11335 sarcoidosis A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve. http://purl.obolibrary.org/obo/DOID_0070546 primary pigmented nodular adrenocortical disease 1 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2. http://purl.obolibrary.org/obo/DOID_0061103 retinitis pigmentosa 76 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_13405 cardiac sarcoidosis http://purl.obolibrary.org/obo/DOID_11335 sarcoidosis A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle. http://purl.obolibrary.org/obo/DOID_0070552 epidermolytic palmoplantar keratoderma 1 http://purl.obolibrary.org/obo/DOID_0080223 epidermolytic palmoplantar keratoderma An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. http://purl.obolibrary.org/obo/DOID_0061104 retinitis pigmentosa 96 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_13406 pulmonary sarcoidosis http://purl.obolibrary.org/obo/DOID_850 lung disease A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction. http://purl.obolibrary.org/obo/DOID_0070587 spermatogenic failure 88 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/DOID_0061105 retinitis pigmentosa 93 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_13413 hepatic encephalopathy http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. http://purl.obolibrary.org/obo/DOID_0070618 rhabdoid tumor predisposition syndrome 1 http://purl.obolibrary.org/obo/DOID_0070617 rhabdoid tumor predisposition syndrome A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_0061106 retinitis pigmentosa 91 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_13417 alexia http://purl.obolibrary.org/obo/DOID_4090 agnosia An agnosia that is a loss of the ability to recognize text. http://purl.obolibrary.org/obo/DOID_0061001 glycine encephalopathy 2 http://purl.obolibrary.org/obo/DOID_9268 glycine encephalopathy A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0061107 retinitis pigmentosa 92 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_1342 congenital hypoplastic anemia http://purl.obolibrary.org/obo/DOID_12449 aplastic anemia An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. http://purl.obolibrary.org/obo/DOID_0051001 congenital dyserythropoietic anemia type IIIb http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0061108 retinitis pigmentosa 79 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_13431 bejel http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. http://purl.obolibrary.org/obo/DOID_0051083 developmental and epileptic encephalopathy 111 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in homozygous mutation in the DEPDC5 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_0061109 retinitis pigmentosa 98 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_13444 glanders http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs. http://purl.obolibrary.org/obo/DOID_0051084 developmental and epileptic encephalopathy 112 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0061110 retinitis pigmentosa 97 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_13450 coccidioidomycosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. http://purl.obolibrary.org/obo/DOID_0051085 developmental and epileptic encephalopathy 113 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam and that has_material_basis_in homozygous mutation in the SV2A gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0061111 retinitis pigmentosa 80 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_13453 gonococcal bursitis http://purl.obolibrary.org/obo/DOID_2965 bursitis A bursitis that is characterized by an inflammation of a bursa caused by the Neisseria gonorrhoeae bacteria, resulting from gonorrhea that has spread to other parts of the body. http://purl.obolibrary.org/obo/DOID_0051086 developmental and epileptic encephalopathy 114 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_0061112 retinitis pigmentosa 95 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13473 central pterygium http://purl.obolibrary.org/obo/DOID_13474 progressive peripheral pterygium A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula. http://purl.obolibrary.org/obo/DOID_0051087 developmental and epileptic encephalopathy 115 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_material_basis_in homozygous or compound heterozygous mutation in the SNF8 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0061113 retinitis pigmentosa 78 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13474 progressive peripheral pterygium http://purl.obolibrary.org/obo/DOID_10526 conjunctival pterygium A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula. http://purl.obolibrary.org/obo/DOID_13477 balanitis xerotica obliterans http://purl.obolibrary.org/obo/DOID_13033 balanitis A balantitis characterized by white plaques or patches on genitals. http://purl.obolibrary.org/obo/DOID_0051088 developmental and epileptic encephalopathy 119 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by global developmental delay, impaired intellectual development, microcephaly, autistic behavior, and seizures and that has_material_basis_in heterozygous mutation in the RNU2-2 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_0061114 autosomal recessive intellectual developmental disorder 83 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. http://purl.obolibrary.org/obo/DOID_0061115 Carey-Fineman-Ziter syndrome 1 http://purl.obolibrary.org/obo/DOID_0080194 Carey-Fineman-Ziter syndrome A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_13481 thanatophoric dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. http://purl.obolibrary.org/obo/DOID_0051089 developmental and epileptic encephalopathy 120 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0061116 Carey-Fineman-Ziter syndrome 2 http://purl.obolibrary.org/obo/DOID_0080194 Carey-Fineman-Ziter syndrome A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_13482 Proteus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by highly variable, progressive features including asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular malformations, dysmorphic facies with seizures or intellectual disability, and tumors that has_material_basis_in mosaicism for a somatic activating mutation in the AKT1 gene on chromosome 14q32.3. There is significant risk of deep vein thrombosis. http://purl.obolibrary.org/obo/DOID_0051090 developmental and epileptic encephalopathy 121 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mutation in the LGI1 gene on chromosome 10q23. http://purl.obolibrary.org/obo/DOID_0061117 Perrault syndrome 2 http://purl.obolibrary.org/obo/DOID_0050857 Perrault syndrome A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_13487 childhood disintegrative disease http://purl.obolibrary.org/obo/DOID_0060040 pervasive developmental disorder A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. http://purl.obolibrary.org/obo/DOID_135 benign vaginal carcinosarcoma http://purl.obolibrary.org/obo/DOID_0060114 vaginal benign neoplasm A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. http://purl.obolibrary.org/obo/DOID_0051091 developmental and epileptic encephalopathy 122 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that has_material_basis_in homozygous mutation in the MDGA2 gene on chromosome 14q21. http://purl.obolibrary.org/obo/DOID_0061118 autosomal dominant tubulointerstitial kidney disease 2 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_13501 Moebius syndrome http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). http://purl.obolibrary.org/obo/DOID_0070704 dentin dysplasia type IA http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dentin dysplasia characterized by oligodontia, microdontia with very globular and malformed teeth and incisal notches, taurodontism of the molar teeth, and short roots that has_material_basis_in homozygous mutation in the SMOC2 gene on chromosome 6q27. http://purl.obolibrary.org/obo/DOID_0061119 autosomal dominant tubulointerstitial kidney disease 4 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_13515 tuberous sclerosis http://purl.obolibrary.org/obo/DOID_0070656 hamartoma syndrome A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. http://purl.obolibrary.org/obo/DOID_13521 tetanus neonatorum http://purl.obolibrary.org/obo/DOID_11338 tetanus A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion. http://purl.obolibrary.org/obo/DOID_0070705 dentin dysplasia type IB http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dentin dysplasia characterized by teeth with crowns that have normal morphology and roots that are short, blunt, and malformed, resulting in tooth hypermobility and subsequent exfoliation of permanent dentition starting in the second decade that has_material_basis_in heterozygous mutation in the VPS4B gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0070706 dentin dysplasia type IC http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dentin dysplasia characterized by tooth crowns that are normal in morphology, form, and color and roots that are short, blunt, and malformed, resulting in severe tooth hypermobility starting in late childhood followed by spontaneous tooth loss around 20 years of age, that has_material_basis_in heterozygous mutation in the SSUH2 gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0061120 autosomal dominant tubulointerstitial kidney disease 5 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_13523 loiasis http://purl.obolibrary.org/obo/DOID_5614 eye disease A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. http://purl.obolibrary.org/obo/DOID_0070707 dentin dysplasia type II http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dentin dysplasia characterized by primary teeth with discoloration and obliteration of the pulp chamber, and secondary teeth with normal coloration, pulps shaped like thistles or tubes, and ovoid pulp stones that has_material_basis_in heterozygous mutation in the DSPP gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_0061121 autosomal dominant tubulointerstitial kidney disease 6 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_0070708 dentin dysplasia with sclerotic bones http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by osteosclerosis of all long bones with heavy cortical bone and narrowed or occluded marrow spaces, and apparently pulpless teeth with radiolucent chevrons; short, blunted roots; and radiolucent apical area that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis http://purl.obolibrary.org/obo/DOID_4254 osteosclerosis An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. http://purl.obolibrary.org/obo/DOID_0061122 autosomal dominant tubulointerstitial kidney disease 1 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_13534 purulent labyrinthitis http://purl.obolibrary.org/obo/DOID_1468 labyrinthitis A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. http://purl.obolibrary.org/obo/DOID_0070634 sitosterolemia 1 http://purl.obolibrary.org/obo/DOID_0090019 sitosterolemia A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21. http://purl.obolibrary.org/obo/DOID_0070709 Popov-Chang syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development with poor or absent speech that has_material_basis_in heterozygous mutation in the YWHAZ gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_0051078 congenital anomalies of the kidney and urinary tract 3 http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the NRIP1 gene on chromosome 21q11-q21. http://purl.obolibrary.org/obo/DOID_13543 hyperparathyroidism http://purl.obolibrary.org/obo/DOID_11201 parathyroid gland disease A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. http://purl.obolibrary.org/obo/DOID_0070710 neurodevelopmental disorder with speech delay and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed motor, speech, and/or cognitive development beginning in infancy or early childhood and behavioral abnormalities that has_material_basis_in heterozygous mutation in the UBR5 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_13544 low tension glaucoma http://purl.obolibrary.org/obo/DOID_1067 open-angle glaucoma An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision. http://purl.obolibrary.org/obo/DOID_0051080 Alport syndrome 3B http://purl.obolibrary.org/obo/DOID_10983 Alport syndrome An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present. http://purl.obolibrary.org/obo/DOID_0070711 Harel-Tora neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking, variably impaired intellectual development with speech delay, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the ATXN7L3 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_13549 interval angle-closure glaucoma http://purl.obolibrary.org/obo/DOID_1405 primary angle-closure glaucoma A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. http://purl.obolibrary.org/obo/DOID_0051081 polycystic kidney disease 8 http://purl.obolibrary.org/obo/DOID_898 autosomal dominant polycystic kidney disease An autosomal dominant polycystic kidney disease that is characterized by enlarged kidneys, arterial hypertension, and kidney failure and that has_material_basis_in heterozygous mutation in the NEK8 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_0070712 developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by congenital anomalies that mainly affect the cardiac and/or renal systems, dysmorphic craniofacial features apparent from birth, and mild to moderate neurodevelopmental delay, usually with hypotonia, delayed walking, impaired intellectual development, and poor speech acquisition, that has_material_basis_in homozygous mutation in the PAN2 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0070713 neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development, febrile seizures or epilepsy, facial dysmorphism, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KLHL20 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_0070714 neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality characterized by ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size, and abnormal craniofacial and skeletal defects including bilateral clubfeet that has_material_basis_in homozygous mutation in the SNAPIN gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0070715 Ramond-Elliott neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking or inability to walk, impaired intellectual development that is usually severe, and poor or absent speech that has_material_basis_in heterozygous mutation in the TRA2B gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_13550 angle-closure glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. http://purl.obolibrary.org/obo/DOID_0051082 Parkinson's disease 27 http://purl.obolibrary.org/obo/DOID_14330 Parkinson's disease A Parkinson's disease that has_material_basis_in mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0070716 progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality characterized by severe to profound global developmental delay with inability to sit or walk independently, almost no cognitive development, poor visual fixation, and absent speech; progressive, severe microcephaly; and notable structural brain abnormalities apparent on brain imaging, including simplified gyral pattern, lissencephaly, partial or complete agenesis of the corpus callosum, enlarged ventricles, and cerebellar hypoplasia, that has_material_basis_in heterozygous mutation in the CRNKL1 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_13560 subserous uterine fibroid http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is located adjacent to the outside of the uterus. http://purl.obolibrary.org/obo/DOID_0061271 liver glycogen storage disease http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GYS2 gene which encodes glycogen synthase-2, on chromosome 12p12. http://purl.obolibrary.org/obo/DOID_0070717 developmental delay with sleep apnea http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, central and/or obstructive sleep apnea, and feeding difficulties that has_material_basis_in heterozygous mutation in the KCNK3 gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_13564 aspergillosis http://purl.obolibrary.org/obo/DOID_2473 opportunistic mycosis An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. http://purl.obolibrary.org/obo/DOID_13565 neuroaspergillosis http://purl.obolibrary.org/obo/DOID_863 nervous system disease An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. http://purl.obolibrary.org/obo/DOID_0061272 muscle glycogen storage disease http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease charaterized by childhood-onset condition with exercise intolerance, arrhythmia, cardiomyopathy, and sudden death that has_material_basis_in homozygous mutation in the GYS1 gene which encodes muscle glycogen synthase, on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070718 neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by mild global developmental delay apparent from infancy, with mildly delayed walking and speech acquisition, mildly impaired intellectual development, behavioral abnormalities, and age-dependent, slowly progressive spastic paraplegia late in the first decade, resulting in gait abnormalities but not loss of ambulation, that has_material_basis_in homozygous mutation in the TBCB gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_13574 cortical senile cataract http://purl.obolibrary.org/obo/DOID_9669 senile cataract A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging. http://purl.obolibrary.org/obo/DOID_13576 twin-to-twin transfusion syndrome http://purl.obolibrary.org/obo/DOID_11244 neonatal anemia A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced. http://purl.obolibrary.org/obo/DOID_0061285 glycogen storage disease X http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the PGAM2 gene, which encodes muscle phosphoglycerate mutase, on chromosome 7p13. http://purl.obolibrary.org/obo/DOID_0070719 neurocardiorenal malformation syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder characterized by severe developmental delay associated with microcephaly, distinctive facial features, and multiorgan involvement including cardiac and renal malformations that has_material_basis_in homozygous or compound heterozygous mutation in the TM2D3 gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_13579 kwashiorkor http://purl.obolibrary.org/obo/DOID_11801 protein-energy malnutrition A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone. http://purl.obolibrary.org/obo/DOID_0061286 glycogen storage disease XI http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous mutation in the LDHA gene, which encodes lactate dehydrogenase, on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0070720 immune dysregulation, neurodevelopmental defects, and colitis http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder characterized by eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental issues that has_material_basis_in homozygous or compound heterozygous mutation in the ITGAV gene on chromosome 2q32. http://purl.obolibrary.org/obo/DOID_13580 cholestasis http://purl.obolibrary.org/obo/DOID_4138 bile duct disease A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. http://purl.obolibrary.org/obo/DOID_0061287 glycogen storage disease XII http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous mutation in the ALDOA gene which encodes fructose-1,6-bisphosphate aldolase A, on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_13589 female infertility of uterine origin http://purl.obolibrary.org/obo/DOID_345 uterine disease A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year. http://purl.obolibrary.org/obo/DOID_0070721 Valence-Farazi cerebellar ataxia syndrome http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by hypotonia, delayed motor development with mildly delayed walking, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging that has_material_basis_in homozygous mutation in the SKOR2 gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0061288 glycogen storage disease XIII http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the ENO3 gene, which encodes beta-enolase, on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_13593 eclampsia http://purl.obolibrary.org/obo/DOID_10591 pre-eclampsia A pre-eclampsia characterized by the presence of seizures. http://purl.obolibrary.org/obo/DOID_0070722 adult-onset leukoencephalopathy without lacunae http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by a diffuse vascular leukoencephalopathy without lacunar infarct and a hippocampal type of memory defect with onset in the sixth to seventh decade that has_material_basis_in heterozygous mutation in the LAMB1 gene on chromosome 7q31. http://purl.obolibrary.org/obo/DOID_0061289 Galloway-Mowat syndrome 6 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_136 vaginal carcinosarcoma http://purl.obolibrary.org/obo/DOID_0050918 vaginal carcinoma A vaginal carcinoma that has_material_basis_in connective tissue. http://purl.obolibrary.org/obo/DOID_0070723 dyschromatosis, ichthyosis, deafness, and atopic disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by generalized hyperpigmentation with hypopigmented spots, ichthyosis, sensorineural hearing loss, atopic dermatitis, asthma, and allergic rhinitis that has_material_basis_in compound heterozygous mutation in the OSBPL2 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0061290 Galloway-Mowat syndrome 7 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. http://purl.obolibrary.org/obo/DOID_13603 obstructive jaundice http://purl.obolibrary.org/obo/DOID_13580 cholestasis A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction. http://purl.obolibrary.org/obo/DOID_0070724 dental radicular dysplasia http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease characterized by taurodontism, unseparated roots, long roots, tooth agenesis, torus palatinus, and torus mandibularis that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11. http://purl.obolibrary.org/obo/DOID_0061291 Galloway-Mowat syndrome 8 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy that has_material_basis_in homozygous mutation in the NUP133 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_13608 biliary atresia http://purl.obolibrary.org/obo/DOID_13580 cholestasis A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. http://purl.obolibrary.org/obo/DOID_0070725 spermatogenic failure 96 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to nonobstructive azoospermia with reduced numbers of spermatocytes and no spermatids seen in testicular tissue, resulting from apparent arrest of spermatogenesis at the zygotene stage, that has_material_basis_in homozygous mutation in the SPATA22 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_13619 extrahepatic cholestasis http://purl.obolibrary.org/obo/DOID_13580 cholestasis A cholestasis resulting from causes located_in bile ducts outside the liver. http://purl.obolibrary.org/obo/DOID_0061292 Galloway-Mowat syndrome 9 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood that has_material_basis_in homozygous mutation in the GON7 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0070726 spermatogenic failure 97 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella, and a reduced concentration of sperm that has_material_basis_in homozygous mutation in the NUP210L gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0070727 spermatogenic failure 98 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP54 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0070728 spermatogenic failure 99 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced sperm progressive motility, sperm with a thin midpiece, absence of the annulus, and disorganization of the mitochondrial sheath that has_material_basis_in homozygous mutation in the SEPTIN4 gene (603696) on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0070729 spermatogenic failure 100 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia resulting from multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH12 gene on chromosome 3p14. http://purl.obolibrary.org/obo/DOID_0070730 spermatogenic failure 101 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ATG4D gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070731 spermatogenic failure 102 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm in reduced concentration that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella that has_material_basis_in homozygous mutation in the CFAP206 gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_0070732 familial juvenile hyperuricemic nephropathy 3 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by high serum uric acid and chronic renal failure with autosomal dominant inheritance that has_material_basis_in linkage to a 5.5 Mb region on chromosome 2p22.1-p21 between SNPs rs372139 and rs896986. http://purl.obolibrary.org/obo/DOID_1362 paranasal sinus sarcoma http://purl.obolibrary.org/obo/DOID_1115 sarcoma A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. http://purl.obolibrary.org/obo/DOID_0061293 Galloway-Mowat syndrome 10 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome characterized by onset of symptoms soon after birth that has_material_basis_in homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0070733 multiple mitochondrial dysfunctions syndrome 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems that has_material_basis_in homozygous or compound heterozygous mutation in the GCSH gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_13622 campylobacteriosis http://purl.obolibrary.org/obo/DOID_104 bacterial infectious disease A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. http://purl.obolibrary.org/obo/DOID_13628 favism http://purl.obolibrary.org/obo/DOID_2862 glucosephosphate dehydrogenase deficiency A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia http://purl.obolibrary.org/obo/DOID_1342 congenital hypoplastic anemia A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. http://purl.obolibrary.org/obo/DOID_13641 exfoliation syndrome http://purl.obolibrary.org/obo/DOID_240 iris disease A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. http://purl.obolibrary.org/obo/DOID_0061294 Meckel syndrome 9 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in compound heterozygous mutation in the B9D1 gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_0070734 episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by childhood onset of progressive muscle weakness and exercise intolerance, with episodic exacerbation, that has_material_basis_in homozygous mutation in the FDX2 gene on chromosome 19p13. Additional more variable features include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. http://purl.obolibrary.org/obo/DOID_13677 SAPHO syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. http://purl.obolibrary.org/obo/DOID_0061295 Meckel syndrome 10 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D2 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070735 auditory neuropathy and optic atrophy http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease A multiple mitochondrial dysfunctions syndrome characterized by bilateral auditory neuropathy and optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_13690 acute gonococcal cystitis http://purl.obolibrary.org/obo/DOID_13148 acute cystitis An acute cystitis that is caused by gonorrhea. http://purl.obolibrary.org/obo/DOID_0061296 Meckel syndrome 11 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in homozygous mutation in the TMEM231 gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_0070736 multiple mitochondrial dysfunctions syndrome 9B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_13691 dermoid cyst of skin http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm A dermoid cyst that is located_in the skin. http://purl.obolibrary.org/obo/DOID_137 vaginal squamous papilloma http://purl.obolibrary.org/obo/DOID_0060114 vaginal benign neoplasm A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. http://purl.obolibrary.org/obo/DOID_1371 uterine corpus adenomatoid tumor http://purl.obolibrary.org/obo/DOID_657 adenoma An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium. http://purl.obolibrary.org/obo/DOID_0061297 Meckel syndrome 12 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in a compound heterozygous mutation in the KIF14 gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_0061298 retinitis pigmentosa 100 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by the onset of night blindness in childhood or young adulthood, followed by progressive visual field constriction and that has_material_basis_in compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_0070737 multiple mitochondrial dysfunctions syndrome 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, respiratory insufficiency and central nervous symptoms, including learning difficulties and neurobehavioral comorbidities, that has_material_basis_in compound heterozygous mutation in the CIAO1 gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_0070738 Al Kaissi syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability that has_material_basis_in homozygous mutation in the CDK10 gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_13711 dental fluorosis http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. http://purl.obolibrary.org/obo/DOID_0061299 retinitis pigmentosa 101 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that has_material_basis_in compound heterozygous or homozygous mutation in the CLN3 gene on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_0070739 autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by severely delayed psychomotor development, severely impaired intellectual development, and involuntary movements, including stereotypic movements, spasticity, and dystonia that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_13714 anodontia http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease that is characterized by complete absence of permanent teeth. http://purl.obolibrary.org/obo/DOID_0070740 cerebellar atrophy, developmental delay, and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy, seizures, and severe developmental delay, including the inability to walk and speech limited to a few words only, that has_material_basis_in homozygous mutation in the KCNMA1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0061300 Hermansky-Pudlak syndrome 10 http://purl.obolibrary.org/obo/DOID_3753 Hermansky-Pudlak syndrome A Hermansky-Pudlak syndrome characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures that has_material_basis_in homozygous mutation in the AP3D1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13717 mature cataract http://purl.obolibrary.org/obo/DOID_9669 senile cataract A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging. http://purl.obolibrary.org/obo/DOID_0070741 cerebellar atrophy with seizures and variable developmental delay http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging, seizures, and variable developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0070742 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by combined immunodeficiency, megaloblastic anemia, and variable additional phenotypes including hyperhomocysteinemia, hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mildly impaired intellectual development, lymphopenia involving all subsets, and low T-cell receptor excision circles that has_material_basis_in compound heterozygous mutation in the MTHFD1 gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0070743 congenital facial palsy with ptosis and velopharyngeal dysfunction http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable congenital nonprogressive bilateral facial palsy, velopharyngeal dysfunction, and ptosis, without limitation of ocular abduction, limb abnormalities, or impaired cognition that has_material_basis_in heterozygous mutation in the TUBB6 gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_0070744 early childhood-onset progressive leukodystrophy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development progressing to complete lack of communication and purposeful movement that has_material_basis_in homozygous mutation in the ACER3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0061301 Hermansky-Pudlak syndrome 11 http://purl.obolibrary.org/obo/DOID_3753 Hermansky-Pudlak syndrome A Hermansky-Pudlak syndrome characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis that has_material_basis_in homozygous mutation in the BLOC1S5 gene on chromosome 6p24. http://purl.obolibrary.org/obo/DOID_13722 neuroschistosomiasis http://purl.obolibrary.org/obo/DOID_936 brain disease A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. http://purl.obolibrary.org/obo/DOID_13724 scurvy http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing. http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus http://purl.obolibrary.org/obo/DOID_10908 hydrocephalus A hydrocephalus characterized by fetal or congenital onset. http://purl.obolibrary.org/obo/DOID_0070745 early-onset progressive encephalopathy with brain atrophy and spasticity http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by microcephaly, global developmental delay, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus that has_material_basis_in homozygous or compound heterozygous mutation in the TRAPPC12 gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_13725 beriberi http://purl.obolibrary.org/obo/DOID_0070313 thiamine deficiency disease A thiamine deficiency disease that is characterized by being severe and chronic. http://purl.obolibrary.org/obo/DOID_1373 endometrial stromal nodule http://purl.obolibrary.org/obo/DOID_0060095 uterine benign neoplasm An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma. http://purl.obolibrary.org/obo/DOID_0070682 congenital hydrocephalus 1 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the CCDC88C gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0070746 HELIX syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia that has_material_basis_in homozygous mutation in the CLDN10 gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_0070683 congenital hydrocephalus 2 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the MPDZ gene on chromosome 9p23. http://purl.obolibrary.org/obo/DOID_13736 uterine inflammatory disease http://purl.obolibrary.org/obo/DOID_345 uterine disease A uterine disease that is characterized by inflammation. http://purl.obolibrary.org/obo/DOID_0070747 immunodeficiency, developmental delay, and hypohomocysteinemia http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia that has_material_basis_in heterozygous mutation in the NFE2L2 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0070684 congenital hydrocephalus 3 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_13743 spinal cord lipoma http://purl.obolibrary.org/obo/DOID_6293 central nervous system lipoma A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. http://purl.obolibrary.org/obo/DOID_0070685 congenital hydrocephalus 4 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in heterozygous mutation in the TRIM71 gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_0070748 joint laxity, short stature, and myopia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by joint laxity, short stature, and severe myopia with prominent eyes that has_material_basis_in homozygous mutation in the GZF1 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_13760 Pthirus pubis infestation http://purl.obolibrary.org/obo/DOID_5502 lice infestation A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. http://purl.obolibrary.org/obo/DOID_0070686 X-linked congenital hydrocephalus http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the L1CAM gene on chromosome Xq28. Additional features include stenosis of the aqueduct of Sylvius, adducted thumbs, spastic paraparesis and impaired intellectual development. http://purl.obolibrary.org/obo/DOID_0070749 Mendez-Johnson immunoneurologic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by failure to thrive with poor overall growth and additional highly variable features including immune dysregulation and neurologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the RNU6ATAC gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0070687 normal pressure hydrocephalus 1 http://purl.obolibrary.org/obo/DOID_1572 normal pressure hydrocephalus A normal pressure hydrocephalus that has_material_basis_in heterozygous mutation in the CFAP43 gene on chromosome 10q25. http://purl.obolibrary.org/obo/DOID_13767 clonorchiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. http://purl.obolibrary.org/obo/DOID_0070750 mitochondrial myopathy and ataxia http://purl.obolibrary.org/obo/DOID_699 mitochondrial myopathy A mitochondrial DNA depletion syndrome characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MSTO1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_13768 opisthorchiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and cholangiocarcinoma. http://purl.obolibrary.org/obo/DOID_0070688 autosomal recessive congenital indifference to pain http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy characterized by complete absence of pain perception with no impairment of other sensory, motor, or autonomic modalities that has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. Hyposmia or anosmia is also common. http://purl.obolibrary.org/obo/DOID_0070751 mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the WARS2 gene on chromosome 1p12. http://purl.obolibrary.org/obo/DOID_13774 Addison's disease http://purl.obolibrary.org/obo/DOID_10493 adrenal cortical hypofunction An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. http://purl.obolibrary.org/obo/DOID_0070689 hereditary sensory and autonomic neuropathy type 2D http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by congenital to pediatric onset of distal loss of pain and temperature sensation and variable autonomic dysfunction that has_material_basis_in homozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_0070752 neonatal severe encephalopathy with lactic acidosis and brain abnormalities http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by onset at birth of progressive encephalopathy with little or no psychomotor development and brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities, associated with increased serum lactate that has_material_basis_in compound heterozygous mutation in the LIPT2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_13775 plantar wart http://purl.obolibrary.org/obo/DOID_11166 Human papillomavirus infectious disease A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. http://purl.obolibrary.org/obo/DOID_0070690 lobodontia http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease characterized by supernumerary cusps and a single pyramid-shaped molar root that has_material_basis_in heterozygous mutation in the ASCL5 gene on chromosome 1q32. Canines and premolars may show a tritubercular structure or prominent cusp tips. http://purl.obolibrary.org/obo/DOID_0070753 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by severely delayed psychomotor development apparent from infancy including delayed and difficulty walking, intellectual disability, and absent speech; decreased cortical white matter often with other brain anomalies; and variable additional features including hip dysplasia, tapering fingers, and seizures that has_material_basis_in heterozygous mutation in the RAB11B gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070754 neurodevelopmental disorder with microcephaly, ataxia, and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SARS1 gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_0070755 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth; postnatal progressive microcephaly; and early-onset, frequent, and often intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the VARS1 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0070756 neurodevelopmental disorder with variable motor and speech impairment http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DHX30 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_13777 epidermodysplasia verruciformis http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to infection with specific human papillomavirus (HPV) genotypes, usually beta-HPV strains, and to the oncogenic potential of some of them, mainly HPV5 and HPV8. Affected individuals develop disseminated flat wart-like and pityriasis versicolor-like cutaneous lesions in childhood or adolescence. Associated with a high risk of carcinoma and has_symptom lesions on the body. http://purl.obolibrary.org/obo/DOID_0070691 craniosynostosis-scoliosis syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by coronal craniosynostosis and thoracolumbar scoliosis, in association with facial dysmorphisms including midface hypoplasia and hypertelorism, and congenital heart disease, mostly atrial septal defect that has_material_basis_in homozygous mutation in the DHRS3 gene on chromosome 1p36, resulting in pathological excess of plasma retinoic acid. http://purl.obolibrary.org/obo/DOID_0070757 Pilarowski-Bjornsson syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed development, impaired intellectual development, speech apraxia, and mild dysmorphic features that has_material_basis_in heterozygous mutation in the CHD1 gene on chromosome 5q. http://purl.obolibrary.org/obo/DOID_0070692 Davis-Wells syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by mild cognitive impairment, dysmorphism featuring oculoauricular abnormalities, and developmental defects involving genitourinary and digestive tracts that has_material_basis_in homozygous or compound heterozygous mutation in the CACHD1 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_13778 chancroid http://purl.obolibrary.org/obo/DOID_37 skin disease A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers. http://purl.obolibrary.org/obo/DOID_0070759 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle that has_material_basis_in homozygous mutation in the RRM1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0070693 Ebstein-Bezieau neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder A autosomal dominant intellectual developmental disorder characterized by neurodevelopmental delay, intellectual disability, and varying congenital malformations, most commonly skeletal and cardiac, that has_material_basis_in heterozygous mutation in the PSMC3 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_13791 myringitis bullosa hemorrhagica http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. http://purl.obolibrary.org/obo/DOID_0081463 recurrent respiratory papillomatosis http://purl.obolibrary.org/obo/DOID_2615 papilloma A respiratory system benign neoplasm that is characterized by recurrent wart-like growths on the surface of the larynx, trachea, or lungs, commonly caused by human papillomavirus types 6 and 11. http://purl.obolibrary.org/obo/DOID_13799 female breast central part cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the center of the breast. http://purl.obolibrary.org/obo/DOID_138 vaginal squamous tumor http://purl.obolibrary.org/obo/DOID_119 vaginal cancer A vaginal cancer that has_material_basis_in squamous tissue. http://purl.obolibrary.org/obo/DOID_0070694 neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder A autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, mildly delayed walking and speech acquisition, impaired intellectual development ranging from learning difficulties to severe cognitive impairment, behavioral abnormalities or autistic features, and congenital heart defects that has_material_basis_in heterozygous mutation in the KDM2B gene on chromosome 12q24. http://purl.obolibrary.org/obo/TRANS_0000025 copepod borne transmission http://purl.obolibrary.org/obo/TRANS_0000005 vector-borne transmission Copepod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary copepod vector to another host. http://purl.obolibrary.org/obo/SYMP_0000429 bradypnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by abnormally slow breathing. http://purl.obolibrary.org/obo/DOID_1380 endometrial cancer http://purl.obolibrary.org/obo/DOID_363 uterine cancer A uterine cancer that is located_in tissues lining the uterus. http://purl.obolibrary.org/obo/DOID_0070695 Yu-Kury neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay, speech delay, motor delay, and intellectual disability that has_material_basis_in heterozygous mutation in the PSMC5 gene on chromosome 12q23. http://purl.obolibrary.org/obo/SYMP_0000646 synovitis http://purl.obolibrary.org/obo/SYMP_0000313 joint inflammation Synovitis is a joint inflammation characterized by an inflammation of a synovial membrane usually with pain and swelling of the joint. http://purl.obolibrary.org/obo/DOID_13800 inclusion conjunctivitis http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. http://purl.obolibrary.org/obo/DOID_0070696 neurodevelopmental disorder with seizures, hypotonia, and variable spasticity http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with limited or no speech, intellectual disability, ataxia-dystonia, and epilepsy that has_material_basis_in homozygous mutation in the PGBD5 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_0080184 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma http://purl.obolibrary.org/obo/DOID_4926 bronchiolo-alveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). http://purl.obolibrary.org/obo/DOID_13801 pharyngoconjunctival fever http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache. http://purl.obolibrary.org/obo/DOID_0070697 neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by mild to moderate global developmental delay, mildly to moderately impaired intellectual development, and progressive spasticity of the lower limbs with hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutations in the RPS6KC1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0080185 mucinous bronchioloalveolar adenocarcinoma http://purl.obolibrary.org/obo/DOID_4926 bronchiolo-alveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. http://purl.obolibrary.org/obo/DOID_1381 Fox-Fordyce disease http://purl.obolibrary.org/obo/DOID_1383 sweat gland disease A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. http://purl.obolibrary.org/obo/DOID_0070698 X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, hypotonia with delayed walking or inability to walk, severe-to-profound intellectual disability with poor or absent speech, and early-onset epilepsy that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11. Females may be less severely affected than males. http://purl.obolibrary.org/obo/DOID_0070699 STAD syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a skeletal dysplasia consisting of advanced bone maturation, short and dysplastic bones, and disproportionate body measurements; facial dysmorphisms and dental anomalies; and neurodevelopmental delays ranging in severity from isolated fine motor delays to impaired intellectual development that has_material_basis_in heterozygous mutation in the PTBP1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0080186 nonmucinous bronchioloalveolar adenocarcinoma http://purl.obolibrary.org/obo/DOID_4926 bronchiolo-alveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. http://purl.obolibrary.org/obo/DOID_13810 familial hypercholesterolemia http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. http://purl.obolibrary.org/obo/DOID_0070700 Luo-Agrawal neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by neurodevelopmental delay, hypotonia, dysmorphic features, and growth restriction with or without structural brain abnormalities that has_material_basis_in homozygous mutation in the WSB2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0080187 chronic neutrophilic leukemia http://purl.obolibrary.org/obo/DOID_1036 chronic leukemia A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. http://purl.obolibrary.org/obo/DOID_13811 chronic subinvolution of uterus http://purl.obolibrary.org/obo/DOID_345 uterine disease A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy. http://purl.obolibrary.org/obo/DOID_13812 adhesions of uterus http://purl.obolibrary.org/obo/DOID_345 uterine disease A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure. http://purl.obolibrary.org/obo/DOID_13814 hypoglossal nerve disease http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve). http://purl.obolibrary.org/obo/DOID_13819 lymphogranuloma venereum http://purl.obolibrary.org/obo/DOID_9113 granuloma inguinale A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. http://purl.obolibrary.org/obo/DOID_1382 miliaria http://purl.obolibrary.org/obo/DOID_1383 sweat gland disease A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts. http://purl.obolibrary.org/obo/DOID_13822 tetanic cataract http://purl.obolibrary.org/obo/DOID_83 cataract A cataract resulting from hypocalcemia. http://purl.obolibrary.org/obo/DOID_1383 sweat gland disease http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease located_in the sweat glands. http://purl.obolibrary.org/obo/DOID_1386 abetalipoproteinemia http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. http://purl.obolibrary.org/obo/DOID_13861 scleroperikeratitis http://purl.obolibrary.org/obo/DOID_13452 scleritis A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. http://purl.obolibrary.org/obo/DOID_13862 acute closed-angle glaucoma http://purl.obolibrary.org/obo/DOID_1405 primary angle-closure glaucoma A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening further optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. http://purl.obolibrary.org/obo/DOID_0070701 small fiber neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy that solely or predominantly affects small myelinated A-delta (Aδ) fibers and unmyelinated C fibers resulting in sensory changes, autonomic dysfunction, or both. Common symptoms include burning, sharp and/or deep pain, allodynia, hyperalgesia, thermal and pinprick hypoesthesia, dry mouth, dry eyes, constipation, bladder incontinence, orthostatic dizziness, sexual dysfunction, red or white skin discoloration, or trouble sweating. http://purl.obolibrary.org/obo/DOID_0070702 measles inclusion body encephalitis http://purl.obolibrary.org/obo/DOID_646 viral encephalitis A viral encephalitis that has_material_basis_in measles virus (Morbillivirus hominis) and occurs in immunocompromised patients with acute onset of progressive seizures days to months after infection or vaccination with the live-attenuated vaccine, resulting near universally in death. http://purl.obolibrary.org/obo/DOID_0070703 Meckel syndrome 14 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TXNDC15 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0081462 Zeitz-Han retinal dystrophy http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration A retinal degeneration that is characterized by a variable retinal phenotypes, predominantly described as rod-cone dystrophy with some patients clinically diagnosed as having retinitis pigmentosa, but also including cases of cone-rod and cone dystrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the ubiquitin-associated protein (UBAP1L) gene on chromosome 15q22. http://purl.obolibrary.org/obo/CHEBI_33229 vitamin (role) http://purl.obolibrary.org/obo/CHEBI_33284 nutrient A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. http://purl.obolibrary.org/obo/CHEBI_164200 triclosan http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor An aromatic ether that is phenol which is substituted at C-5 by a chloro group and at C-2 by a 2,4-dichlorophenoxy group. It is widely used as a preservative and antimicrobial agent in personal care products such as soaps, skin creams, toothpaste and deodorants as well as in household items such as plastic chopping boards, sports equipment and shoes. http://purl.obolibrary.org/obo/CHEBI_26092 phthalate http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor An endocrine disruptor that is phthalate, used to make plastics more flexible, they are also found in some food packaging, cosmetics, children’s toys, and medical devices. A family of benzene derivatives that are formed by esterification of phthalic acid. Phthalates are added to increase the flexibility and softness of commercial plastics, which are incorporated into a wide variety of consumer goods. Ingested phthalates may exhibit estrogenic or antiandrogenic effects or they may act as endocrine disruptors. http://purl.obolibrary.org/obo/CHEBI_46661 asbestos http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements. http://purl.obolibrary.org/obo/CHEBI_53218 diphenylmethane-4,4'-diisocyanate http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A diisocyanate consisting of diphenylmethane with two isocyanate groups at the 4- and 4'-positions. http://purl.obolibrary.org/obo/HP_0011460 Embryonal onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). http://purl.obolibrary.org/obo/DOID_0080188 chronic myelomonocytic leukemia http://purl.obolibrary.org/obo/DOID_1036 chronic leukemia A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. http://purl.obolibrary.org/obo/DOID_13867 focal labyrinthitis http://purl.obolibrary.org/obo/DOID_1468 labyrinthitis A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. http://purl.obolibrary.org/obo/HP_0011461 Fetal onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). http://purl.obolibrary.org/obo/DOID_0080189 malignant hemangioma http://purl.obolibrary.org/obo/DOID_175 vascular cancer A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen. http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood. http://purl.obolibrary.org/obo/HP_0011462 Young adult onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset of disease at the age of between 16 and 40 years. http://purl.obolibrary.org/obo/DOID_0080190 malignant epithelioid hemangioendothelioma http://purl.obolibrary.org/obo/DOID_0080189 malignant hemangioma A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. http://purl.obolibrary.org/obo/DOID_1388 Tangier disease http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. http://purl.obolibrary.org/obo/HP_0011463 Childhood onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of disease at the age of between 1 and 5 years. http://purl.obolibrary.org/obo/DOID_0080192 relapsed/refractory diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. http://purl.obolibrary.org/obo/DOID_1389 polyneuropathy http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. http://purl.obolibrary.org/obo/DOID_13891 bird fancier's lung http://purl.obolibrary.org/obo/DOID_841 extrinsic allergic alveolitis An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission http://purl.obolibrary.org/obo/TRANS_0000000 transmission process Direct transmission is a transmission process that is the means during which the pathogen is transmitted immediately from a reservoir, source or host to another host. http://purl.obolibrary.org/obo/DOID_0080199 colorectal carcinoma http://purl.obolibrary.org/obo/DOID_9256 colorectal cancer A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. http://purl.obolibrary.org/obo/DOID_1390 hypobetalipoproteinemia http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats. http://purl.obolibrary.org/obo/DOID_13902 white piedra http://purl.obolibrary.org/obo/DOID_0050133 superficial mycosis A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. http://purl.obolibrary.org/obo/TRANS_0000002 indirect transmission http://purl.obolibrary.org/obo/TRANS_0000000 transmission process Indirect transmission is a transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by intermediary vehicles, vectors or as airborne dust particles. http://purl.obolibrary.org/obo/DOID_0080200 bilateral renal aplasia http://purl.obolibrary.org/obo/DOID_14766 renal agenesis A renal agenesis that is characterized by the absence of both kidneys at birth. http://purl.obolibrary.org/obo/DOID_0080201 Peters plus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. http://purl.obolibrary.org/obo/DOID_13911 achromatopsia http://purl.obolibrary.org/obo/DOID_13399 color blindness A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_13918 somatization disorder http://purl.obolibrary.org/obo/DOID_4737 somatoform disorder A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. http://purl.obolibrary.org/obo/TRANS_0000006 congenital transmission http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission Congenital transmission is a direct transmission process during which the pathogen is transmitted directly from mother to child at or around the time of birth. http://purl.obolibrary.org/obo/DOID_0080352 X-linked chondrodysplasia punctata 2 http://purl.obolibrary.org/obo/DOID_2581 chondrodysplasia punctata A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_13922 eosinophilic esophagitis http://purl.obolibrary.org/obo/DOID_11963 esophagitis An esophagitis characterized by inflammation involving eosinophils located_in esophagus. http://purl.obolibrary.org/obo/DOID_0080353 X-linked recessive hypophosphatemic rickets http://purl.obolibrary.org/obo/DOID_10609 rickets A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image. http://purl.obolibrary.org/obo/ECO_0007636 curator inference from database http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from authoritative resource based on information located in a queryable database and is optimized for computers. http://purl.obolibrary.org/obo/DOID_13938 amenorrhea http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is characterized by the absence of menstruation. http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work where the reference is to an entry in a compendium that provides summarized information on a subject. http://purl.obolibrary.org/obo/DOID_1394 urinary schistosomiasis http://purl.obolibrary.org/obo/DOID_365 bladder disease A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. http://purl.obolibrary.org/obo/ECO_0007638 curator inference from Wikipedia http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia A type of curator inference from encyclopedia where the reference is to a Wikipedia article. http://purl.obolibrary.org/obo/TRANS_0000007 contact transmission http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission Contact transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by kissing, skin-to-skin contact, sexual intercourse, or by contact with soil or vegetation containing the pathogen. http://purl.obolibrary.org/obo/DOID_13941 benign paroxysmal positional vertigo http://purl.obolibrary.org/obo/DOID_9847 peripheral vertigo A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing. http://purl.obolibrary.org/obo/ECO_0007639 curator inference from Britannica http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia A type of curator inference from encyclopedia where the reference is to an Encyclopedia Britannica article. http://purl.obolibrary.org/obo/DOID_13945 CADASIL http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. http://purl.obolibrary.org/obo/DOID_1395 schistosomiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. http://purl.obolibrary.org/obo/DOID_13951 uterine corpus epithelioid leiomyoma http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures. http://purl.obolibrary.org/obo/DOID_13953 uterine corpus dissecting leiomyoma http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid A uterine fibroid that is characterized by the presence of intramural tearing. http://purl.obolibrary.org/obo/TRANS_0000008 droplet spread transmission http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission Droplet spread transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by spray of aerosols over a short distance, spray from sneezing, coughing or talking. http://purl.obolibrary.org/obo/ECO_0007640 curator inference from MedlinePlus encyclopedia http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia A type of curator inference from encyclopedia in which the reference is to an article in the National Library of Medicine's MedLinePlus encyclopedia. http://purl.obolibrary.org/obo/TRANS_0000012 vehicle-borne ingestion transmission http://purl.obolibrary.org/obo/TRANS_0000010 vehicle-borne transmission Vehicle-borne ingestion transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by ingestion of fluids or foods or food products including: food, water, milk, or meat products. http://purl.obolibrary.org/obo/DOID_13955 uterus interstitial leiomyoma http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is located within the myometrium. http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work in which the entry comes from a collection of words with definitions, usages, pronounciations, and more. http://purl.obolibrary.org/obo/ECO_0007642 curator inference from Oxford Dictionary http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary A type of curator inference from dictionary in which the reference is to an entry in the Oxford Dictionaries. http://purl.obolibrary.org/obo/ECO_0007643 curator inference from Merriam-Webster Dictionary http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary A type of curator inference from dictionary in which the reference is to an entry in the Merriam-Webster Dictionary. http://purl.obolibrary.org/obo/SYMP_0000162 tremor http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Tremor is a generial symptom characterized by a trembling or shaking usually from physical weakness, emotional stress, or disease. http://purl.obolibrary.org/obo/DOID_13956 uterine corpus myxoid leiomyoma http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity. http://purl.obolibrary.org/obo/ECO_0007644 curator inference from MedlinePlus dictionary http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary A type of curator inference from dictionary in which the reference is to an entry in the National Library of Medicine's MedLinePlus dictionary. http://purl.obolibrary.org/obo/DOID_13957 uterine corpus lipoleiomyoma http://purl.obolibrary.org/obo/DOID_13223 uterine fibroid An uterine fibroid that is characterized by the presence of adipocytes. http://purl.obolibrary.org/obo/SYMP_0000568 short stature http://purl.obolibrary.org/obo/SYMP_0000464 lack of expected normal physiological development in childhood A lack of expected normal physiological development in childhood that is characterized by an individual's height being in the 3rd percentile for the mean height of a given age, sex, and population group. http://purl.obolibrary.org/obo/ECO_0007645 curator inference from journal publication http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work reporting on research findings. http://purl.obolibrary.org/obo/ECO_0007646 curator inference from book http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work based on a book, which may be a reference to a URL (for ebooks) or a DOI. http://purl.obolibrary.org/obo/DOID_13958 uterine corpus bizarre leiomyoma http://purl.obolibrary.org/obo/DOID_127 leiomyoma An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells. http://purl.obolibrary.org/obo/DOID_13963 nuclear senile cataract http://purl.obolibrary.org/obo/DOID_9669 senile cataract A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging. http://purl.obolibrary.org/obo/SYMP_0000306 inability to feed http://purl.obolibrary.org/obo/SYMP_0000522 feeding difficulties and mismanagement A feeding difficulties and mismanagement that is characterized by a lack of feeding capacity. http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source http://purl.obolibrary.org/obo/ECO_0000000 evidence A type of curator inference that is from what is generally considered an authoritative source on the topic, including model organism databases, newspaper articles, books, journal publications, etc. http://purl.obolibrary.org/obo/DOID_13964 Morgagni cataract http://purl.obolibrary.org/obo/DOID_9669 senile cataract A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging. http://purl.obolibrary.org/obo/SYMP_0000594 abnormal involuntary movement http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by an inability to control bodily movement and may be a symptom of cerebrovascular diseases, dyskinesia, tremor, chorea, dystonia and myoclonus. http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. http://purl.obolibrary.org/obo/NCIT_C79660 Pollen http://purl.obolibrary.org/obo/CHEBI_50904 allergen The male genetic material of a seed plant contained in the anther, usually appearing as fine grains or dust. http://purl.obolibrary.org/obo/DOID_13972 female breast lower-outer quadrant cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the lower-outer qudrant of the breast. http://purl.obolibrary.org/obo/DOID_0080614 oculocutaneous albinism type VI http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. http://purl.obolibrary.org/obo/DOID_0080210 primary mediastinal B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. http://purl.obolibrary.org/obo/DOID_1398 parasitic infectious disease http://purl.obolibrary.org/obo/DOID_0050117 disease by infectious agent A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. http://purl.obolibrary.org/obo/DOID_0112102 Sotos syndrome 2 http://purl.obolibrary.org/obo/DOID_14748 Sotos syndrome A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0080211 nodal marginal zone lymphoma http://purl.obolibrary.org/obo/DOID_0050748 marginal zone lymphoma A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. http://purl.obolibrary.org/obo/DOID_0080212 polycystic kidney disease 4 http://purl.obolibrary.org/obo/DOID_0110861 autosomal recessive polycystic kidney disease A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. http://purl.obolibrary.org/obo/DOID_0080213 punctate palmoplantar keratoderma type II http://purl.obolibrary.org/obo/DOID_0060361 punctate palmoplantar keratoderma A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits. http://purl.obolibrary.org/obo/DOID_13994 cleidocranial dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. http://purl.obolibrary.org/obo/DOID_0112103 Sotos syndrome 1 http://purl.obolibrary.org/obo/DOID_14748 Sotos syndrome A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. http://purl.obolibrary.org/obo/DOID_0080214 punctate palmoplantar keratoderma type I http://purl.obolibrary.org/obo/DOID_0060361 punctate palmoplantar keratoderma A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye. http://purl.obolibrary.org/obo/DOID_0112104 Sotos syndrome 3 http://purl.obolibrary.org/obo/DOID_14748 Sotos syndrome A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0080215 developmental and epileptic encephalopathy 8 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. http://purl.obolibrary.org/obo/DOID_14004 thoracic aortic aneurysm http://purl.obolibrary.org/obo/DOID_3627 aortic aneurysm An aortic aneurysm that is located_in the thoracic aorta. http://purl.obolibrary.org/obo/DOID_14019 Brucella canis brucellosis http://purl.obolibrary.org/obo/DOID_11077 brucellosis A brucellosis involving an infection caused by Brucella canis in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. http://purl.obolibrary.org/obo/DOID_0112105 X-linked parkinsonism-spasticity syndrome http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_14021 Tietze's syndrome http://purl.obolibrary.org/obo/DOID_1222 cartilage disease A cartilage disease that is characterized by localized tenderness and non-suppurative swelling, typically associated with the 2nd or 3rd costal cartilages unilaterally caused by inflammation of one or more of the costal cartilages and that has symptom anterior chest pain. http://purl.obolibrary.org/obo/DOID_0080216 duodenal atresia http://purl.obolibrary.org/obo/DOID_10486 intestinal atresia An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum. http://purl.obolibrary.org/obo/DOID_0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia http://purl.obolibrary.org/obo/DOID_0080352 X-linked chondrodysplasia punctata 2 A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0080217 lysosomal acid lipase deficiency http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. http://purl.obolibrary.org/obo/DOID_14026 folic acid deficiency anemia http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines. http://purl.obolibrary.org/obo/DOID_0112107 McLeod syndrome http://purl.obolibrary.org/obo/DOID_0050765 neuroacanthocytosis A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. http://purl.obolibrary.org/obo/DOID_0112108 myofibrillar myopathy 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. http://purl.obolibrary.org/obo/DOID_0080218 primary spontaneous pneumothorax http://purl.obolibrary.org/obo/DOID_1673 pneumothorax A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung. http://purl.obolibrary.org/obo/DOID_14037 aorta atresia http://purl.obolibrary.org/obo/DOID_520 aortic disease An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. http://purl.obolibrary.org/obo/DOID_0112109 spermatogenic failure 44 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1. http://purl.obolibrary.org/obo/DOID_0080219 dystransthyretinemic hyperthyroxinemia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_14039 POEMS syndrome http://purl.obolibrary.org/obo/DOID_620 blood protein disease A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation. http://purl.obolibrary.org/obo/DOID_0112110 combined oxidative phosphorylation deficiency 49 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_0080222 pseudohypoparathyroidism type 1B http://purl.obolibrary.org/obo/DOID_4184 pseudohypoparathyroidism A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS. http://purl.obolibrary.org/obo/DOID_14040 autoimmune polyendocrine syndrome http://purl.obolibrary.org/obo/DOID_0060005 autoimmune disease of endocrine system An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. http://purl.obolibrary.org/obo/DOID_0112111 combined oxidative phosphorylation deficiency 50 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/DOID_0080223 epidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_3390 palmoplantar keratosis A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. http://purl.obolibrary.org/obo/DOID_14042 bipolar I disorder http://purl.obolibrary.org/obo/DOID_3312 bipolar disorder A bipolar disorder that is characterized by at least one manic or mixed episode. http://purl.obolibrary.org/obo/DOID_0112112 combined oxidative phosphorylation deficiency 48 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. http://purl.obolibrary.org/obo/DOID_0080224 autosomal dominant dystrophic epidermolysis bullosa http://purl.obolibrary.org/obo/DOID_4959 epidermolysis bullosa dystrophica An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. http://purl.obolibrary.org/obo/DOID_14049 phaeohyphomycosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. http://purl.obolibrary.org/obo/DOID_0112113 combined oxidative phosphorylation deficiency 45 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0112114 combined oxidative phosphorylation deficiency 47 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. http://purl.obolibrary.org/obo/DOID_0080225 amyotrophic lateral sclerosis type 23 http://purl.obolibrary.org/obo/DOID_332 amyotrophic lateral sclerosis An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0080226 autosomal dominant intellectual developmental disorder 56 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_1405 primary angle-closure glaucoma http://purl.obolibrary.org/obo/DOID_13550 angle-closure glaucoma An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. http://purl.obolibrary.org/obo/DOID_0112115 combined oxidative phosphorylation deficiency 46 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0080227 autosomal dominant intellectual developmental disorder 55 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_14059 paraurethral gland cancer http://purl.obolibrary.org/obo/DOID_120 female reproductive organ cancer A female reproductive organ cancer that is located_in the paraurethral glands. http://purl.obolibrary.org/obo/DOID_0112116 combined oxidative phosphorylation deficiency 43 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. http://purl.obolibrary.org/obo/DOID_0080228 autosomal dominant intellectual developmental disorder 53 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_14067 Plasmodium falciparum malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. http://purl.obolibrary.org/obo/DOID_0112117 combined oxidative phosphorylation deficiency 40 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_0080230 autosomal dominant intellectual developmental disorder 54 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. http://purl.obolibrary.org/obo/DOID_14068 blackwater fever http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. http://purl.obolibrary.org/obo/DOID_0080231 autosomal dominant intellectual developmental disorder 52 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0112118 combined oxidative phosphorylation deficiency 42 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_14069 cerebral malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. http://purl.obolibrary.org/obo/DOID_0080232 autosomal dominant intellectual developmental disorder 51 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0112119 combined oxidative phosphorylation deficiency 41 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. http://purl.obolibrary.org/obo/DOID_14080 glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/DOID_446 primary hyperaldosteronism A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3. http://purl.obolibrary.org/obo/DOID_0080233 autosomal dominant intellectual developmental disorder 50 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. http://purl.obolibrary.org/obo/DOID_0112120 SHOX-related short stature http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. http://purl.obolibrary.org/obo/DOID_14081 toxic labyrinthitis http://purl.obolibrary.org/obo/DOID_1468 labyrinthitis A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. http://purl.obolibrary.org/obo/DOID_0080234 Clark-Baraitser syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_0112121 nephrogenic syndrome of inappropriate antidiuresis http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0080235 autosomal dominant intellectual developmental disorder 48 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_14087 epicondylitis http://purl.obolibrary.org/obo/DOID_3342 bone inflammation disease A bone inflammation disease that results_in inflammation located_in epicondyle. http://purl.obolibrary.org/obo/DOID_0112122 X-linked epilepsy with variable learning disabilities and behavior disorders http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. http://purl.obolibrary.org/obo/DOID_0080236 autosomal dominant intellectual developmental disorder 45 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_14092 renal artery atheroma http://purl.obolibrary.org/obo/DOID_2388 renal artery disease An atherosclerosis of the renal artery. http://purl.obolibrary.org/obo/DOID_0080237 autosomal dominant intellectual developmental disorder 46 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_0112123 deafness, dystonia, and cerebral hypomyelination http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_14095 boutonneuse fever http://purl.obolibrary.org/obo/DOID_11104 spotted fever A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. http://purl.obolibrary.org/obo/DOID_0080238 autosomal dominant intellectual developmental disorder 47 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. http://purl.obolibrary.org/obo/DOID_0112124 X-linked retinitis pigmentosa and sinorespiratory infections http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_14110 anus cancer http://purl.obolibrary.org/obo/DOID_5672 large intestine cancer A large intestine cancer that is located_in the anus. http://purl.obolibrary.org/obo/DOID_0080239 autosomal recessive intellectual developmental disorder 61 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_14115 toxic shock syndrome http://purl.obolibrary.org/obo/DOID_0050339 commensal bacterial infectious disease A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. http://purl.obolibrary.org/obo/DOID_14118 familial lipoprotein lipase deficiency http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. http://purl.obolibrary.org/obo/DOID_1412 bacteriuria http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease which consists of the presence of bacteria in urine. http://purl.obolibrary.org/obo/DOID_14130 lateral cystocele http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls. http://purl.obolibrary.org/obo/DOID_0112125 alpha-thalassemia myelodysplasia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0080240 non-syndromic X-linked intellectual disability 106 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_14131 midline cystocele http://purl.obolibrary.org/obo/DOID_1284 prolapse of female genital organ A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall. http://purl.obolibrary.org/obo/DOID_14133 Masters-Allen syndrome http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery. http://purl.obolibrary.org/obo/DOID_0112126 Stocco Dos Santos type X-linked intellectual disability http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_0080241 syndromic X-linked mental retardation 35 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0080242 syndromic X-linked mental retardation Hough type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_1414 ovarian dysfunction http://purl.obolibrary.org/obo/DOID_1100 ovarian disease An ovarian disease that is characterized by irregular or absent ovulation. http://purl.obolibrary.org/obo/DOID_0112127 HRPT-related hyperuricemia http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. http://purl.obolibrary.org/obo/DOID_14146 ureterolithiasis http://purl.obolibrary.org/obo/DOID_1426 ureteral disease An ureteral disease this is characterized by the formation of stoney concentrations in the ureter. http://purl.obolibrary.org/obo/DOID_0080243 amelogenesis imperfecta type 3B http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. http://purl.obolibrary.org/obo/DOID_0112128 X-linked severe congenital neutropenia http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_14150 spinal cord lymphoma http://purl.obolibrary.org/obo/DOID_5772 central nervous system hematologic cancer A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. http://purl.obolibrary.org/obo/DOID_0080244 Galloway-Mowat syndrome 2 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0112129 severe congenital neutropenia 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. http://purl.obolibrary.org/obo/DOID_14159 obstructive hydrocephalus http://purl.obolibrary.org/obo/DOID_10908 hydrocephalus A hydrocephalus characterized by cerebrospinal fluid obstruction in the ventricular system. http://purl.obolibrary.org/obo/DOID_0080245 Galloway-Mowat syndrome 3 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_0112130 autosomal dominant severe congenital neutropenia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. http://purl.obolibrary.org/obo/DOID_1417 choroid disease http://purl.obolibrary.org/obo/DOID_3480 uveal disease An uveal disease that is located_in the choroid. http://purl.obolibrary.org/obo/DOID_0080246 Galloway-Mowat syndrome 4 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0112131 severe congenital neutropenia 2 http://purl.obolibrary.org/obo/DOID_0112130 autosomal dominant severe congenital neutropenia An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. http://purl.obolibrary.org/obo/DOID_14176 selective IgG deficiency disease http://purl.obolibrary.org/obo/DOID_11702 dysgammaglobulinemia A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions. http://purl.obolibrary.org/obo/DOID_0080247 Galloway-Mowat syndrome 5 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0080248 erythrokeratodermia variabilis et progressiva 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0112132 severe congenital neutropenia 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. http://purl.obolibrary.org/obo/DOID_14179 X-linked agammaglobulinemia http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. http://purl.obolibrary.org/obo/DOID_0080249 erythrokeratodermia variabilis et progressiva 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_0112133 severe congenital neutropenia 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_14188 frozen shoulder http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion. http://purl.obolibrary.org/obo/DOID_0080250 erythrokeratodermia variabilis et progressiva 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0112134 severe congenital neutropenia 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. http://purl.obolibrary.org/obo/DOID_14213 hypophosphatasia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. http://purl.obolibrary.org/obo/DOID_0080251 erythrokeratodermia variabilis et progressiva 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0112135 severe congenital neutropenia 8 http://purl.obolibrary.org/obo/DOID_0112130 autosomal dominant severe congenital neutropenia An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. http://purl.obolibrary.org/obo/DOID_0112136 severe congenital neutropenia 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_14218 dihydropyrimidine dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_653 purine-pyrimidine metabolic disorder A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. http://purl.obolibrary.org/obo/DOID_0080252 spastic ataxia 8 http://purl.obolibrary.org/obo/DOID_0050952 spastic ataxia A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_0112137 combined oxidative phosphorylation deficiency 51 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. http://purl.obolibrary.org/obo/DOID_0080253 Meckel syndrome 13 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality and that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0112138 primary coenzyme Q10 deficiency 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_14221 abdominal obesity-metabolic syndrome 1 http://purl.obolibrary.org/obo/DOID_0060611 abdominal obesity-metabolic syndrome An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. http://purl.obolibrary.org/obo/DOID_0080254 orofaciodigital syndrome XVI http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0112139 nuclear type mitochondrial complex I deficiency 35 http://purl.obolibrary.org/obo/DOID_0060536 mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0080255 Meier-Gorlin syndrome 8 http://purl.obolibrary.org/obo/DOID_0060306 Meier-Gorlin syndrome A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_14223 ochronosis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions. http://purl.obolibrary.org/obo/DOID_0112140 retinitis pigmentosa 83 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. http://purl.obolibrary.org/obo/DOID_0080256 Perrault syndrome 6 http://purl.obolibrary.org/obo/DOID_0050857 Perrault syndrome A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_14225 acute frontal sinusitis http://purl.obolibrary.org/obo/DOID_10791 frontal sinusitis A frontal sinusitis which lasts for less than 4 weeks. http://purl.obolibrary.org/obo/DOID_0112141 retinitis pigmentosa 84 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. http://purl.obolibrary.org/obo/DOID_0080257 autosomal recessive congenital ichthyosis 13 http://purl.obolibrary.org/obo/DOID_0060655 autosomal recessive congenital ichthyosis An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_14227 azoospermia http://purl.obolibrary.org/obo/DOID_12336 male infertility A male infertility disease characterized by the absence of any measurable level of sperm in semen. http://purl.obolibrary.org/obo/DOID_0112142 retinitis pigmentosa 85 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. http://purl.obolibrary.org/obo/DOID_0080258 autosomal recessive congenital ichthyosis 14 http://purl.obolibrary.org/obo/DOID_0060655 autosomal recessive congenital ichthyosis An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_14228 oligospermia http://purl.obolibrary.org/obo/DOID_12336 male infertility A male fertility issue defined as a low sperm concentration in the ejaculate. http://purl.obolibrary.org/obo/DOID_0112143 retinitis pigmentosa 86 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_14230 scleromalacia perforans http://purl.obolibrary.org/obo/DOID_11343 scleral disease A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis. http://purl.obolibrary.org/obo/DOID_0080259 autosomal recessive spinocerebellar ataxia 25 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_14239 gastrointestinal tularemia http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. http://purl.obolibrary.org/obo/DOID_0112144 retinitis pigmentosa 87 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. http://purl.obolibrary.org/obo/DOID_0080260 autosomal recessive spinocerebellar ataxia 26 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_14243 chronic perichondritis of pinna http://purl.obolibrary.org/obo/DOID_222 perichondritis of auricle A perichondritis of auricle which is persistent and long-lasting. http://purl.obolibrary.org/obo/DOID_0112145 retinitis pigmentosa 88 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. http://purl.obolibrary.org/obo/DOID_0080261 autosomal recessive nonsyndromic deafness 106 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_14247 chronic purulent otitis media http://purl.obolibrary.org/obo/DOID_11506 suppurative otitis media A suppurative otitis media which is persistent and long-lasting. http://purl.obolibrary.org/obo/DOID_0112146 retinitis pigmentosa 89 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. http://purl.obolibrary.org/obo/DOID_0080262 autosomal recessive nonsyndromic deafness 107 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0080263 autosomal recessive nonsyndromic deafness 108 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_14248 chronic atticoantral disease http://purl.obolibrary.org/obo/DOID_14247 chronic purulent otitis media A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. http://purl.obolibrary.org/obo/DOID_0112147 retinitis pigmentosa 90 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. http://purl.obolibrary.org/obo/DOID_0080264 exudative vitreoretinopathy 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1. http://purl.obolibrary.org/obo/DOID_14250 Down syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. http://purl.obolibrary.org/obo/DOID_0112148 Uruguay faciocardiomusculoskeletal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. http://purl.obolibrary.org/obo/DOID_14256 adult-onset Still's disease http://purl.obolibrary.org/obo/DOID_7148 rheumatoid arthritis A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain. http://purl.obolibrary.org/obo/DOID_0080265 RENI syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. http://purl.obolibrary.org/obo/DOID_0112149 terminal osseous dysplasia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_1426 ureteral disease http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is located_in the ureter. http://purl.obolibrary.org/obo/DOID_0080266 primary ciliary dyskinesia 37 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0112150 X-linked spondyloepimetaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_14261 fragile X syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. http://purl.obolibrary.org/obo/DOID_0080267 autosomal dominant nonsyndromic deafness 71 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0112151 corpus callosum agenesis-abnormal genitalia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. http://purl.obolibrary.org/obo/DOID_14262 oral candidiasis http://purl.obolibrary.org/obo/DOID_403 mouth disease A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. http://purl.obolibrary.org/obo/DOID_0080268 autosomal dominant nonsyndromic deafness 72 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0112152 CHIME syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_14264 benign neonatal seizures http://purl.obolibrary.org/obo/DOID_0050702 neonatal period electroclinical syndrome A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. http://purl.obolibrary.org/obo/DOID_14265 pulmonary valve insufficiency http://purl.obolibrary.org/obo/DOID_5749 pulmonary valve disease A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. http://purl.obolibrary.org/obo/DOID_14275 atrophic vulva http://purl.obolibrary.org/obo/DOID_2059 vulvar disease A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization. http://purl.obolibrary.org/obo/DOID_1428 endocrine pancreas disease http://purl.obolibrary.org/obo/DOID_26 pancreas disease A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream. http://purl.obolibrary.org/obo/DOID_14287 brawny scleritis http://purl.obolibrary.org/obo/DOID_13794 anterior scleritis An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. http://purl.obolibrary.org/obo/DOID_0080269 autosomal dominant nonsyndromic deafness 73 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. http://purl.obolibrary.org/obo/DOID_0080903 embryonal tumor with multilayered rosettes, C19MC-altered http://purl.obolibrary.org/obo/DOID_0081286 embryonal tumor with multilayered rosettes An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. http://purl.obolibrary.org/obo/DOID_0112308 central precocious puberty http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. http://purl.obolibrary.org/obo/DOID_14289 Ebstein anomaly http://purl.obolibrary.org/obo/DOID_0050826 tricuspid valve disease A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. http://purl.obolibrary.org/obo/DOID_0080270 autosomal dominant nonsyndromic deafness 34 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. http://purl.obolibrary.org/obo/DOID_0112309 central precocious puberty 2 http://purl.obolibrary.org/obo/DOID_0112308 central precocious puberty A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. http://purl.obolibrary.org/obo/DOID_14291 Noonan syndrome with multiple lentigines http://purl.obolibrary.org/obo/DOID_0080690 RASopathy A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. http://purl.obolibrary.org/obo/DOID_0080271 nephrotic syndrome type 15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0080272 nephrotic syndrome type 16 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0112310 central precocious puberty 1 http://purl.obolibrary.org/obo/DOID_0112308 central precocious puberty A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_14292 vulvar dystrophy http://purl.obolibrary.org/obo/DOID_2059 vulvar disease A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching. http://purl.obolibrary.org/obo/DOID_14305 tuberculous empyema http://purl.obolibrary.org/obo/DOID_3798 pleural empyema A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. http://purl.obolibrary.org/obo/DOID_0080273 polycystic kidney disease 5 http://purl.obolibrary.org/obo/DOID_0110861 autosomal recessive polycystic kidney disease A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22. http://purl.obolibrary.org/obo/DOID_0081063 DICER1 syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. http://purl.obolibrary.org/obo/DOID_14319 pleuropneumonia http://purl.obolibrary.org/obo/DOID_552 pneumonia A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. http://purl.obolibrary.org/obo/DOID_0080274 multiple mitochondrial dysfunctions syndrome 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_1432 blindness http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by a lack or loss of vision. http://purl.obolibrary.org/obo/DOID_0081064 BN2 diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. http://purl.obolibrary.org/obo/DOID_0080275 Joubert syndrome 30 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_14320 generalized anxiety disorder http://purl.obolibrary.org/obo/DOID_2030 anxiety disorder An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. http://purl.obolibrary.org/obo/DOID_0080276 Joubert syndrome 29 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0081065 EZB diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. http://purl.obolibrary.org/obo/DOID_14323 Marfan syndrome http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. http://purl.obolibrary.org/obo/DOID_0080277 Joubert syndrome 31 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. http://purl.obolibrary.org/obo/DOID_14324 Plasmodium malariae malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. http://purl.obolibrary.org/obo/DOID_0080278 Joubert syndrome 32 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0081066 MCD diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. http://purl.obolibrary.org/obo/DOID_14325 mixed malaria http://purl.obolibrary.org/obo/DOID_12365 malaria A malaria that involves infection with more than one species of Plasmodium at the same time. http://purl.obolibrary.org/obo/DOID_0080279 Joubert syndrome 33 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. http://purl.obolibrary.org/obo/DOID_14330 Parkinson's disease http://purl.obolibrary.org/obo/DOID_0050890 synucleinopathy A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. http://purl.obolibrary.org/obo/DOID_0081067 N1 diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. http://purl.obolibrary.org/obo/DOID_0080280 gingival fibromatosis 5 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12. http://purl.obolibrary.org/obo/DOID_14336 estrogen excess http://purl.obolibrary.org/obo/DOID_1414 ovarian dysfunction An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen. http://purl.obolibrary.org/obo/DOID_0081333 Wiedemann-Rautenstrauch syndrome http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0080281 schizophrenia 19 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_14365 systemic primary carnitine deficiency disease http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. http://purl.obolibrary.org/obo/DOID_0070369 restrictive dermopathy 1 http://purl.obolibrary.org/obo/DOID_0060762 restrictive dermopathy A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0080282 developmental and epileptic encephalopathy 56 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. http://purl.obolibrary.org/obo/DOID_14374 norwegian scabies http://purl.obolibrary.org/obo/DOID_8295 scabies A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. http://purl.obolibrary.org/obo/DOID_0070421 neurodevelopmental disorder with spasticity and poor growth http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_0070644 hereditary spastic paraplegia 92 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0080283 developmental and epileptic encephalopathy 55 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_14384 parietal lobe neoplasm http://purl.obolibrary.org/obo/DOID_368 cerebrum cancer A cerebrum cancer that is located_in the parietal lobe. http://purl.obolibrary.org/obo/DOID_0061154 Mulvihill-Smith syndrome http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome A progeroid syndrome that is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and impaired intellectual development. http://purl.obolibrary.org/obo/DOID_0080284 developmental and epileptic encephalopathy 57 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_14392 thrombophlebitis migrans http://purl.obolibrary.org/obo/DOID_3875 thrombophlebitis A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. http://purl.obolibrary.org/obo/DOID_0051100 hydroxyprolinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by elevated hydroxyproline levels, caused by a deficiency of the hydroxyproline oxidase enzyme resulting in deficient degradation of hydroxyproline, and that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase-2 (PRODH2) gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080285 developmental and epileptic encephalopathy 58 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_14397 protozoal dysentery http://purl.obolibrary.org/obo/DOID_12384 dysentery A dysentery that involves protozoan infection. http://purl.obolibrary.org/obo/DOID_0051101 retinitis pigmentosa 108 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is characterized by onset of symptoms later in life (fourth to fifth decades) and that has_material_basis_in homozygous or compound heterozygous mutation in the SAXO6 gene on chromosome 12q15. Most affected individuals experience photophobia and reduced visual acuity, and funduscopy shows the typical changes of RP, with optic disc pallor, retinal vessel attenuation, and bone-spicule pigmentary changes in the midperiphery. http://purl.obolibrary.org/obo/DOID_0080286 spinocerebellar ataxia 44 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24. http://purl.obolibrary.org/obo/DOID_0080287 spinocerebellar ataxia 45 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. http://purl.obolibrary.org/obo/DOID_1440 Machado-Joseph disease http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. http://purl.obolibrary.org/obo/DOID_0051102 acrofrontofacionasal dysostosis http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis that is characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. http://purl.obolibrary.org/obo/DOID_0051103 acrofrontofacionasal dysostosis 2 http://purl.obolibrary.org/obo/DOID_0051102 acrofrontofacionasal dysostosis An acrofrontofacionasal dysostosis with genitourinary anomalies. http://purl.obolibrary.org/obo/DOID_0051104 acrofrontofacionasal dysostosis 3 http://purl.obolibrary.org/obo/DOID_0051102 acrofrontofacionasal dysostosis An acrofrontofacionasal dysostosis that is characterized by multiple congenital anomalies and severely impaired psychomotor development and that has_material_basis_in mutation in the NBAS gene on chromosome 2p24. http://purl.obolibrary.org/obo/DOID_0080288 spinocerebellar ataxia 46 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_14400 capillary leak syndrome http://purl.obolibrary.org/obo/DOID_1271 capillary disease A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues. http://purl.obolibrary.org/obo/DOID_0080289 orofaciodigital syndrome XVII http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. http://purl.obolibrary.org/obo/DOID_0070784 hormone receptor-positive breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by the presence of at least one of the estrogen or progesterone receptors. http://purl.obolibrary.org/obo/DOID_0070785 hormone receptor-negative breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by the absence of hormone receptors. http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia http://purl.obolibrary.org/obo/DOID_0050753 cerebellar ataxia A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_14415 Legg-Calve-Perthes disease http://purl.obolibrary.org/obo/DOID_8125 osteochondrosis An osteochondrosis that results_in death and fracture located_in hip joint. http://purl.obolibrary.org/obo/DOID_0080290 familial erythrocytosis 5 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0070783 idiopathic generalized epilepsy 20 http://purl.obolibrary.org/obo/DOID_1827 generalized epilepsy A generalized epilepsy characterized by partial epilepsy, with onset usually early in the first decade of life, that evolves to include complex partial seizures and secondary generalized tonic-clonic seizures associated with focal, and sometimes diffuse, EEG abnormalities that has_material_basis_in compound heterozygous mutation in the ZFHX3 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_14418 dracunculiasis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. http://purl.obolibrary.org/obo/DOID_0080291 developmental and epileptic encephalopathy 59 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0070786 triple positive breast cancer http://purl.obolibrary.org/obo/DOID_0070779 hormone receptor-positive/HER2-positive breast cancer A hormone receptor-positive/HER2-positive breast cancer characterized by excess HER2 (ERBB2) protein and the presence of both estrogen and progesterone receptors. http://purl.obolibrary.org/obo/DOID_0080292 retinitis pigmentosa 81 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_14422 dipetalonemiasis http://purl.obolibrary.org/obo/DOID_5614 eye disease A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. http://purl.obolibrary.org/obo/DOID_0070787 Alsahan-Harris syndrome http://purl.obolibrary.org/obo/DOID_0060340 ciliopathy A ciliopathy characterized by severe brain defects, including holoprosencephaly and anencephaly, ocular defects including microphthalmia/anophthalmia and cyclopia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_0080293 short-rib thoracic dysplasia 18 with polydactyly http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. http://purl.obolibrary.org/obo/DOID_0070788 autosomal dominant adult-onset leukodystrophy without amyloid angiopathy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by adult onset of variable neurologic symptoms, including recurrent hemiplegic migraine associated with transient focal deficits, progressive motor abnormalities, and cognitive decline; brain imaging changes involving the deep cerebral white matter, posterior limb of the internal capsule, middle cerebellar peduncles, cerebral peduncles, and globus pallidus; micro- to macrocystic degeneration and cystatin C aggregates in the neuropil; and decreased cystatin C levels in serum and cerebrospinal fluid that has_material_basis_in heterozygous mutation in the CST3 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_0080294 Charcot-Marie-Tooth disease dominant intermediate G http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_14435 chronic tubotympanic suppurative otitis media http://purl.obolibrary.org/obo/DOID_11506 suppurative otitis media A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. http://purl.obolibrary.org/obo/DOID_14443 cholinergic urticaria http://purl.obolibrary.org/obo/DOID_0060220 physical urticaria A physical urticaria induced by sweating. http://purl.obolibrary.org/obo/DOID_0070789 cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset lens cataract, generalized nonscarring alopecia, oral mucosal disorder, and severe psoriasiform skin lesions affecting the scalp, facial, inguinal region, buttocks and lower extremities that has_material_basis_in compound heterozygous mutation in the MBTPS1 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0080295 short-rib thoracic dysplasia 19 with or without polydactyly http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0080296 hypomyelinating leukodystrophy 14 http://purl.obolibrary.org/obo/DOID_0060786 hypomyelinating leukodystrophy A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. http://purl.obolibrary.org/obo/DOID_0080297 Coffin-Siris syndrome 6 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. http://purl.obolibrary.org/obo/DOID_14444 sclerosing keratitis http://purl.obolibrary.org/obo/DOID_9858 deep keratitis A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. http://purl.obolibrary.org/obo/DOID_0070790 congenital nonprogressive movement disorder with ataxia and eye movement abnormalities http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by infantile hypotonia, delayed walking with an ataxic or unsteady gait, speech articulation difficulties, and ptosis, strabismus, or gaze palsies that has_material_basis_in heterozygous mutation in the ESRRG gene on chromosome 1q41. http://purl.obolibrary.org/obo/DOID_0080298 complete generalized lipodystrophy http://purl.obolibrary.org/obo/DOID_811 lipodystrophy A lipodystrophy that is characterized by complete loss of adipose tissue. http://purl.obolibrary.org/obo/DOID_0080299 partial lipodystrophy http://purl.obolibrary.org/obo/DOID_811 lipodystrophy A lipodystrophy that is characterized by partial loss of adipose tissue. http://purl.obolibrary.org/obo/DOID_14445 chronic closed-angle glaucoma http://purl.obolibrary.org/obo/DOID_1405 primary angle-closure glaucoma A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. http://purl.obolibrary.org/obo/DOID_0070791 craniofaciocardiohepatic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by orofacial clefting, congenital heart disease, tall stature with variable dysmorphic features, gastrointestinal involvement, and developmental delay that has_material_basis_in heterozygous mutation in the AMOTL1 gene on chromosome 11q21. http://purl.obolibrary.org/obo/DOID_0080300 acquired generalized lipodystrophy http://purl.obolibrary.org/obo/DOID_0080298 complete generalized lipodystrophy A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. http://purl.obolibrary.org/obo/DOID_14449 mixed gonadal dysgenesis http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis. http://purl.obolibrary.org/obo/DOID_14450 46 XX gonadal dysgenesis http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. http://purl.obolibrary.org/obo/DOID_0070792 Dursun-Ozgul neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by varying degrees of developmental disability, epilepsy, and movement disorders that has_material_basis_in homozygous mutation in the ELFN1 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_0080301 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/DOID_626 complement deficiency A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. http://purl.obolibrary.org/obo/DOID_14453 farmer's lung http://purl.obolibrary.org/obo/DOID_841 extrinsic allergic alveolitis An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. http://purl.obolibrary.org/obo/DOID_0070793 FICUS syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by dysmorphic facial features, impaired intellectual development, and multisystem features including cardiovascular, urogenital, skeletal, gastrointestinal, and ophthalmologic abnormalities that has_material_basis_in homozygous mutation in the LSM1 gene on chromosome 8p11. http://purl.obolibrary.org/obo/DOID_0080302 mixed sleep apnea http://purl.obolibrary.org/obo/DOID_0050847 sleep apnea A sleep apnea that is characterized by a combination of central and obstructive sleep apnea. http://purl.obolibrary.org/obo/DOID_14456 Brucella melitensis brucellosis http://purl.obolibrary.org/obo/DOID_11077 brucellosis A brucellosis that involves an infection caused by Brucella melitensis in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. http://purl.obolibrary.org/obo/DOID_0070794 Guillouet-Gordon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by intellectual disability, speech delay, and/or motor delay of variable severity associated with variable combinations of craniofacial defects, anomalies of the extremities, and heart defects that has_material_basis_in homozygous or compound heterozygous mutation in the MED16 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0080303 mucinous lung adenocarcinoma http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. http://purl.obolibrary.org/obo/DOID_14457 Brucella abortus brucellosis http://purl.obolibrary.org/obo/DOID_11077 brucellosis A brucellosis that involves an infection caused by Brucella abortus in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. http://purl.obolibrary.org/obo/DOID_0070795 hyposulfatemia with skeletal dysplasia http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by reduced plasma sulfate levels, increased urinary sulfate excretion, and skeletal dysplasia, including proportionate short stature, epiphyseal abnormalities and metaphyseal flaring, and vertebral irregularities with kyphosis, lordosis, or scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A gene on chromosome 7q31. http://purl.obolibrary.org/obo/DOID_0080304 lung mucinous cystadenocarcinoma http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. http://purl.obolibrary.org/obo/DOID_14464 neuroleptic malignant syndrome http://purl.obolibrary.org/obo/DOID_863 nervous system disease A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. http://purl.obolibrary.org/obo/DOID_14472 hantavirus pulmonary syndrome http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. http://purl.obolibrary.org/obo/DOID_0070796 ICHAD syndrome http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease characterized by onset of immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay soon after birth or in early infancy that has_material_basis_in heterozygous gain-of-function mutation in the IKZF2 gene on chromosome 2q34. Affected individuals have recurrent, mainly respiratory, infections and may have autoimmune features. http://purl.obolibrary.org/obo/DOID_0080305 signet ring lung adenocarcinoma http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus. http://purl.obolibrary.org/obo/DOID_14482 pemphigoid gestationis http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis. http://purl.obolibrary.org/obo/DOID_0070797 immunodysregulation with variable immunodeficiency and autoimmunity http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease characterized by variable manifestations ranging from immunodeficiency, including recurrent respiratory infections and chronic fungal or viral infections often associated with lymphopenia and hypogammaglobulinemia, to features of a primary immune regulatory disorder, including autoimmunity, autoinflammation, lymphoproliferation, systemic lupus erythematosus, and EBV-associated hemophagocytic lymphohistiocytosis, that has_material_basis_in putative loss-of-function mutation in the IKZF2 gene on chromosome 2q34. http://purl.obolibrary.org/obo/DOID_14484 sporotrichosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. http://purl.obolibrary.org/obo/DOID_0080306 solid adenocarcinoma with mucin production http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells. http://purl.obolibrary.org/obo/DOID_0081464 isolated glycolic aciduria http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is characterized by markedly elevated urinary and plasma glycolate without further metabolic disease consequences and that has_material_basis_in homozygous mutation in the HAO1 gene on chromosome 20p12. http://purl.obolibrary.org/obo/DOID_14497 Wolman disease http://purl.obolibrary.org/obo/DOID_0080217 lysosomal acid lipase deficiency A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. http://purl.obolibrary.org/obo/DOID_60001 pulmonary artery disease http://purl.obolibrary.org/obo/DOID_850 lung disease An artery disease that is located in the lungs. http://purl.obolibrary.org/obo/DOID_0081465 neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, failure to thrive with poor overall growth, delayed walking or inability to walk, and severe to profoundly impaired intellectual development with absent or poor speech, and that has_material_basis_in homozygous mutation in the EIPR1 gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_14499 Fabry disease http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. http://purl.obolibrary.org/obo/DOID_0080524 thyroid gland adenocarcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_0081466 neurodevelopmental disorder with intellectual, visual, and language impairment http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by these cardinal features as well as motor delay, seizures, microcephaly, and dysmorphic features and that has_material_basis_in heterozygous mutation in the PIP5K1C gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_14501 Sjogren-Larsson syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. http://purl.obolibrary.org/obo/DOID_0080526 bronchiectasis 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_0081467 autosomal dominant intellectual developmental disorder 78 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by neurodevelopmental abnormalities including intellectual disability, language and motor delays, autism spectrum disorder, and epilepsy or seizures and that has_material_basis_in heterozygous mutation in the INTS6 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_14502 cholesterol ester storage disease http://purl.obolibrary.org/obo/DOID_0080217 lysosomal acid lipase deficiency A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen. http://purl.obolibrary.org/obo/DOID_0080527 bronchiectasis 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. http://purl.obolibrary.org/obo/DOID_0081468 autosomal dominant intellectual developmental disorder 76 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, mildly to severely impaired intellectual development with speech and language deficits, and autism and that has_material_basis_in heterozygous mutation in the MARK2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. http://purl.obolibrary.org/obo/DOID_0080528 bronchiectasis 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel. http://purl.obolibrary.org/obo/DOID_0080530 granular corneal dystrophy 1 http://purl.obolibrary.org/obo/DOID_12318 granular corneal dystrophy A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface. http://purl.obolibrary.org/obo/DOID_0081469 autosomal dominant intellectual developmental disorder 77 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay that leads to mild to moderate intellectual disability and that has_material_basis_in heterozygous mutation in the LRRC7 gene on chromosome 1q31.1. http://purl.obolibrary.org/obo/DOID_14512 candidal paronychia http://purl.obolibrary.org/obo/DOID_4123 nail disease A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. http://purl.obolibrary.org/obo/DOID_0111180 French Canadian Leigh disease http://purl.obolibrary.org/obo/DOID_3762 cytochrome-c oxidase deficiency disease A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. http://purl.obolibrary.org/obo/DOID_0081470 spermatogenic failure 103 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from meiotic arrest and that has_material_basis_in homozygous or compound heterozygous mutation in the MEI1 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_14515 WAGR syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. http://purl.obolibrary.org/obo/DOID_0111181 familial hemiplegic migraine 1 http://purl.obolibrary.org/obo/DOID_0060178 familial hemiplegic migraine A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. http://purl.obolibrary.org/obo/SYMP_0000005 ataxia http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by an inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders. http://purl.obolibrary.org/obo/DOID_14523 Argyll Robertson pupil http://purl.obolibrary.org/obo/DOID_11518 abnormal pupillary function An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. http://purl.obolibrary.org/obo/DOID_0111182 familial hemiplegic migraine 2 http://purl.obolibrary.org/obo/DOID_0060178 familial hemiplegic migraine A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. http://purl.obolibrary.org/obo/TRANS_0000009 airborne transmission http://purl.obolibrary.org/obo/TRANS_0000002 indirect transmission Airborne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host while suspended in the air as dust. http://purl.obolibrary.org/obo/DOID_14525 Reye syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. http://purl.obolibrary.org/obo/DOID_0111183 familial hemiplegic migraine 3 http://purl.obolibrary.org/obo/DOID_0060178 familial hemiplegic migraine A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3. http://purl.obolibrary.org/obo/ExO_0000013 acid rain http://purl.obolibrary.org/obo/ExO_0000007 ecological perturbation An ecological perturbation that is acidic water, usually pH 2.5 to 4.5, which poisons the ecosystem and adversely affects plants, fishes, and mammals. It is caused by industrial pollutants, mainly sulfur oxides and nitrogen oxides, emitted into the atmosphere and returning to earth in the form of acidic rain water. http://purl.obolibrary.org/obo/DOID_14544 rete testis adenocarcinoma http://purl.obolibrary.org/obo/DOID_5639 rete testis neoplasm A rete testis neoplasm that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 http://purl.obolibrary.org/obo/DOID_0080099 myopathy, lactic acidosis, and sideroblastic anemia A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. http://purl.obolibrary.org/obo/SYMP_0000534 spontaneous ecchymoses http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by the spontaneous escape of blood into the tissues from ruptured blood vessels marked by a livid black-and-blue or purple spot or area. http://purl.obolibrary.org/obo/DOID_14545 seminal vesicle adenocarcinoma http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer A male reproductive organ cancer that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 http://purl.obolibrary.org/obo/DOID_0080099 myopathy, lactic acidosis, and sideroblastic anemia A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. http://purl.obolibrary.org/obo/DOID_0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 http://purl.obolibrary.org/obo/DOID_0080099 myopathy, lactic acidosis, and sideroblastic anemia A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. http://purl.obolibrary.org/obo/SYMP_0000164 incoordination http://purl.obolibrary.org/obo/SYMP_0000079 coordination symptom A coordination symptom that is characterized by a loss of complicated body movements, which may be caused by disease, injury, or toxins. http://purl.obolibrary.org/obo/DOID_14547 sphenoid sinus squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma A squamous cell carcinoma that is located_in the sphenoid sinus. http://purl.obolibrary.org/obo/DOID_0111187 distal myopathy with anterior tibial onset http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_2442 paranasal sinus squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma A paranasal sinus cancer that derives_from squamous epithelial cells. http://purl.obolibrary.org/obo/DOID_1455 geographic tongue http://purl.obolibrary.org/obo/DOID_1453 atrophic glossitis An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. http://purl.obolibrary.org/obo/DOID_0111188 myofibrillar myopathy 9 http://purl.obolibrary.org/obo/DOID_0080307 myofibrillar myopathy A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0060903 thrombosis http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. http://purl.obolibrary.org/obo/DOID_14557 primary pulmonary hypertension http://purl.obolibrary.org/obo/DOID_12326 chronic pulmonary heart disease A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. http://purl.obolibrary.org/obo/DOID_0111189 distal myopathy 3 http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0110926 congenital myopathy 4B http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_14566 disease of cellular proliferation http://purl.obolibrary.org/obo/DOID_4 disease A disease that is characterized by abnormally rapid cell division. http://purl.obolibrary.org/obo/DOID_0111190 distal myopathy 4 http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. http://purl.obolibrary.org/obo/DOID_0110927 nemaline myopathy 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_1459 hypothyroidism http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease A thyroid gland disease which involves an underproduction of thyroid hormone. http://purl.obolibrary.org/obo/DOID_0111191 distal myopathy Tateyama type http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0110928 nemaline myopathy 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. http://purl.obolibrary.org/obo/DOID_1461 cholesterol embolism http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. http://purl.obolibrary.org/obo/DOID_0111192 facioscapulohumeral muscular dystrophy 1 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. http://purl.obolibrary.org/obo/DOID_0111193 facioscapulohumeral muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. http://purl.obolibrary.org/obo/DOID_0110929 nemaline myopathy 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_14669 acrodysostosis http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. http://purl.obolibrary.org/obo/DOID_0111194 autosomal dominant adult-onset proximal spinal muscular atrophy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. http://purl.obolibrary.org/obo/DOID_0110930 nemaline myopathy 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_1467 serous labyrinthitis http://purl.obolibrary.org/obo/DOID_1468 labyrinthitis A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. http://purl.obolibrary.org/obo/DOID_14670 hypertelorism, microtia, facial clefting syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. http://purl.obolibrary.org/obo/DOID_14671 multiple intestinal atresia http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21. http://purl.obolibrary.org/obo/DOID_0111195 erythrokeratodermia variabilis et progressiva 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. http://purl.obolibrary.org/obo/DOID_0110931 nemaline myopathy 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. http://purl.obolibrary.org/obo/DOID_14679 VACTERL association http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. http://purl.obolibrary.org/obo/DOID_0111196 X-linked distal spinal muscular atrophy 3 http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. http://purl.obolibrary.org/obo/DOID_0110932 congenital myopathy 23 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_1468 labyrinthitis http://purl.obolibrary.org/obo/DOID_3930 otitis interna An otitis interna which involves inflammation of the labyrinths. http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_0110933 nemaline myopathy 11 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. http://purl.obolibrary.org/obo/DOID_14681 Silver-Russell syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0110934 nemaline myopathy 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_14686 Axenfeld-Rieger syndrome http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects. http://purl.obolibrary.org/obo/DOID_0111199 autosomal dominant distal hereditary motor neuronopathy 7 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. http://purl.obolibrary.org/obo/DOID_0111200 autosomal dominant distal hereditary motor neuronopathy 1 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. http://purl.obolibrary.org/obo/DOID_0110935 nemaline myopathy 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. http://purl.obolibrary.org/obo/DOID_14687 diastrophic dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. http://purl.obolibrary.org/obo/DOID_0111202 autosomal dominant distal hereditary motor neuronopathy 14 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. http://purl.obolibrary.org/obo/DOID_0110936 nemaline myopathy 5A http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. http://purl.obolibrary.org/obo/DOID_0110937 autosomal dominant osteopetrosis 1 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_14693 Clouston syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_0111203 autosomal dominant distal hereditary motor neuronopathy 5 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. http://purl.obolibrary.org/obo/DOID_0110938 autosomal dominant osteopetrosis 2 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_14694 Johanson-Blizzard syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. http://purl.obolibrary.org/obo/DOID_0111205 autosomal dominant distal hereditary motor neuronopathy 12 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. http://purl.obolibrary.org/obo/DOID_0111206 autosomal dominant distal hereditary motor neuronopathy 2 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0110939 autosomal recessive osteopetrosis 5 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_14695 galactokinase deficiency http://purl.obolibrary.org/obo/DOID_9870 galactosemia A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. http://purl.obolibrary.org/obo/DOID_0111207 autosomal dominant distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. http://purl.obolibrary.org/obo/DOID_0110940 autosomal recessive osteopetrosis 8 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. http://purl.obolibrary.org/obo/DOID_14699 thrombocytopenia-absent radius syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other. http://purl.obolibrary.org/obo/DOID_0111209 autosomal dominant distal hereditary motor neuronopathy 4 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. http://purl.obolibrary.org/obo/DOID_0110941 autosomal recessive osteopetrosis 3 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_1470 major depressive disorder http://purl.obolibrary.org/obo/DOID_1596 depressive disorder A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality. http://purl.obolibrary.org/obo/DOID_0111210 autosomal dominant distal hereditary motor neuronopathy 6 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. http://purl.obolibrary.org/obo/DOID_0110942 autosomal recessive osteopetrosis 1 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_14701 propionic acidemia http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. http://purl.obolibrary.org/obo/DOID_0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. http://purl.obolibrary.org/obo/DOID_0111212 autosomal dominant distal hereditary motor neuronopathy 9 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. http://purl.obolibrary.org/obo/DOID_0110943 autosomal recessive osteopetrosis 2 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_14702 branchiootorenal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. http://purl.obolibrary.org/obo/DOID_0111213 autosomal recessive distal hereditary motor neuronopathy 4 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. http://purl.obolibrary.org/obo/DOID_14705 Pfeiffer syndrome http://purl.obolibrary.org/obo/DOID_12960 acrocephalosyndactylia An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. http://purl.obolibrary.org/obo/DOID_0110944 autosomal recessive osteopetrosis 4 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0111214 autosomal recessive distal hereditary motor neuronopathy 5 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. http://purl.obolibrary.org/obo/DOID_14711 FG syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. http://purl.obolibrary.org/obo/DOID_0110945 autosomal recessive osteopetrosis 6 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_14717 centronuclear myopathy http://purl.obolibrary.org/obo/DOID_422 congenital structural myopathy A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. http://purl.obolibrary.org/obo/DOID_0110946 autosomal recessive osteopetrosis 7 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0111215 autosomal dominant distal hereditary motor neuronopathy 8 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. http://purl.obolibrary.org/obo/DOID_0110947 Waardenburg syndrome type 2B http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. http://purl.obolibrary.org/obo/DOID_14720 Ehlers-Danlos syndrome classic type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy http://purl.obolibrary.org/obo/DOID_14717 centronuclear myopathy A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_0111217 autosomal dominant centronuclear myopathy http://purl.obolibrary.org/obo/DOID_14717 centronuclear myopathy A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0111218 Friedreich ataxia 1 http://purl.obolibrary.org/obo/DOID_12705 Friedreich ataxia A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. http://purl.obolibrary.org/obo/DOID_0110948 Waardenburg syndrome type 1 http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness; pigmentation anomalies of eyes, hair, and skin; and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_14723 beta-ketothiolase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. http://purl.obolibrary.org/obo/DOID_0111219 Friedreich ataxia 2 http://purl.obolibrary.org/obo/DOID_12705 Friedreich ataxia A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. http://purl.obolibrary.org/obo/DOID_0110949 Waardenburg syndrome type 3 http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_14725 autosomal dominant microcephaly http://purl.obolibrary.org/obo/DOID_10907 microcephaly A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene. http://purl.obolibrary.org/obo/DOID_14731 Weaver syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_0111220 centronuclear myopathy 2 http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. http://purl.obolibrary.org/obo/DOID_0110950 Waardenburg syndrome type 2A http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. http://purl.obolibrary.org/obo/DOID_14735 hereditary angioedema http://purl.obolibrary.org/obo/DOID_1558 angioedema An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes. http://purl.obolibrary.org/obo/DOID_0111221 centronuclear myopathy 6 with fiber-type disproportion http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. http://purl.obolibrary.org/obo/DOID_0110951 Waardenburg syndrome type 2C http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. http://purl.obolibrary.org/obo/DOID_14737 craniofrontonasal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. http://purl.obolibrary.org/obo/DOID_1474 aggressive periodontitis http://purl.obolibrary.org/obo/DOID_824 periodontitis A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. http://purl.obolibrary.org/obo/DOID_14743 trichorhinophalangeal syndrome type I http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). http://purl.obolibrary.org/obo/DOID_0111222 centronuclear myopathy 5 http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. http://purl.obolibrary.org/obo/DOID_0110953 Waardenburg syndrome type 4A http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. http://purl.obolibrary.org/obo/DOID_0110954 Waardenburg syndrome type 4B http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0110955 Waardenburg syndrome type 4C http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_14744 Partington syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. http://purl.obolibrary.org/obo/DOID_0111223 centronuclear myopathy 1 http://purl.obolibrary.org/obo/DOID_0111217 autosomal dominant centronuclear myopathy An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. http://purl.obolibrary.org/obo/DOID_0110956 Waardenburg syndrome type 2E http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_14748 Sotos syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. http://purl.obolibrary.org/obo/DOID_0111224 centronuclear myopathy 4 http://purl.obolibrary.org/obo/DOID_0111217 autosomal dominant centronuclear myopathy An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. http://purl.obolibrary.org/obo/DOID_0110957 Gaucher's disease type I http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_14749 methylmalonic acidemia http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia that involves an accumulation of methylmalonic acid in the blood. http://purl.obolibrary.org/obo/DOID_0111225 centronuclear myopathy X-linked http://purl.obolibrary.org/obo/DOID_14717 centronuclear myopathy A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. http://purl.obolibrary.org/obo/DOID_0110958 Gaucher's disease type II http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0110959 Gaucher's disease type III http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_1475 lymphangioma http://purl.obolibrary.org/obo/DOID_60006 benign vascular tumor A benign vascular tumor that is composed of dilated lymphatic channels. http://purl.obolibrary.org/obo/DOID_0111226 X-linked congenital myopathy with fiber-type disproportion http://purl.obolibrary.org/obo/DOID_0080102 congenital myopathy 4A A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. http://purl.obolibrary.org/obo/DOID_0110960 Gaucher's disease perinatal lethal http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0110961 atypical Gaucher's disease due to saposin c deficiency http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/DOID_0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 http://purl.obolibrary.org/obo/DOID_332 amyotrophic lateral sclerosis A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. http://purl.obolibrary.org/obo/DOID_14753 isovaleric acidemia http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. http://purl.obolibrary.org/obo/DOID_0110962 brachydactyly-preaxial hallux varus syndrome http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. http://purl.obolibrary.org/obo/DOID_0111228 Sveinsson chorioretinal atrophy http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. http://purl.obolibrary.org/obo/DOID_14755 argininosuccinic aciduria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. http://purl.obolibrary.org/obo/DOID_0110963 Ballard syndrome http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. http://purl.obolibrary.org/obo/DOID_14756 vascular type Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. http://purl.obolibrary.org/obo/DOID_0110965 brachydactyly type A2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. http://purl.obolibrary.org/obo/DOID_0111230 congenital muscular dystrophy-dystroglycanopathy type A11 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. http://purl.obolibrary.org/obo/DOID_14757 Ehlers-Danlos syndrome hypermobility type http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. http://purl.obolibrary.org/obo/DOID_0110966 brachydactyly type A3 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. http://purl.obolibrary.org/obo/DOID_0111231 congenital muscular dystrophy-dystroglycanopathy type A8 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. http://purl.obolibrary.org/obo/DOID_14759 autosomal recessive type IV Ehlers-Danlos syndrome http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. http://purl.obolibrary.org/obo/DOID_14761 Greig cephalopolysyndactyly syndrome http://purl.obolibrary.org/obo/DOID_12960 acrocephalosyndactylia An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. http://purl.obolibrary.org/obo/DOID_0110967 brachydactyly type A4 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. http://purl.obolibrary.org/obo/DOID_0111232 congenital muscular dystrophy-dystroglycanopathy type A9 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. http://purl.obolibrary.org/obo/DOID_14762 calcaneonavicular coalition http://purl.obolibrary.org/obo/DOID_11971 synostosis A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. http://purl.obolibrary.org/obo/DOID_0110968 brachydactyly type A6 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. http://purl.obolibrary.org/obo/DOID_0111233 congenital muscular dystrophy-dystroglycanopathy type A14 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. http://purl.obolibrary.org/obo/DOID_0111234 congenital muscular dystrophy-dystroglycanopathy type A7 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. http://purl.obolibrary.org/obo/DOID_14764 Larsen syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities. http://purl.obolibrary.org/obo/DOID_0110969 brachydactyly type B1 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0111235 congenital muscular dystrophy-dystroglycanopathy type A12 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. http://purl.obolibrary.org/obo/DOID_14766 renal agenesis http://purl.obolibrary.org/obo/DOID_557 kidney disease A renal disease that is characterized by the failure of one or both kidneys to develop. http://purl.obolibrary.org/obo/DOID_0110970 brachydactyly type C http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_0110971 brachydactyly type D http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/DOID_0111236 congenital muscular dystrophy-dystroglycanopathy type A3 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. http://purl.obolibrary.org/obo/DOID_14768 Saethre-Chotzen syndrome http://purl.obolibrary.org/obo/DOID_12960 acrocephalosyndactylia An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. http://purl.obolibrary.org/obo/DOID_0111237 congenital muscular dystrophy-dystroglycanopathy type A1 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. http://purl.obolibrary.org/obo/DOID_0110972 brachydactyly type E1 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by shortening of the fingers, mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_14773 cartilage-hair hypoplasia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_0111238 congenital muscular dystrophy-dystroglycanopathy type A13 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. http://purl.obolibrary.org/obo/DOID_0110973 Mononen-Karnes-Senac syndrome http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by short, abducted thumbs and great toes. http://purl.obolibrary.org/obo/DOID_14775 brittle cornea syndrome 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0111239 congenital muscular dystrophy-dystroglycanopathy type A10 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. http://purl.obolibrary.org/obo/DOID_0110974 brachydactyly type A1B http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. http://purl.obolibrary.org/obo/DOID_14778 blepharophimosis, ptosis, and epicanthus inversus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3. http://purl.obolibrary.org/obo/DOID_0111240 congenital muscular dystrophy-dystroglycanopathy type A2 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. http://purl.obolibrary.org/obo/DOID_0110975 brachydactyly type B2 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_14780 KBG syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. http://purl.obolibrary.org/obo/DOID_0111241 congenital muscular dystrophy-dystroglycanopathy type A5 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. http://purl.obolibrary.org/obo/DOID_0110976 brachydactyly type E2 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. http://purl.obolibrary.org/obo/DOID_14784 olivopontocerebellar atrophy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. http://purl.obolibrary.org/obo/DOID_0111242 congenital muscular dystrophy-dystroglycanopathy type A6 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. http://purl.obolibrary.org/obo/DOID_0111243 acromicric dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. http://purl.obolibrary.org/obo/DOID_0110977 brachydactyly type A1C http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_14789 spondyloepiphyseal dysplasia congenita http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. http://purl.obolibrary.org/obo/DOID_0111244 palmoplantar keratoderma and congenital alopecia 1 http://purl.obolibrary.org/obo/DOID_0080015 physical disorder An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. http://purl.obolibrary.org/obo/DOID_0110978 brachydactyly type A1D http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_14791 Leber congenital amaurosis http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). http://purl.obolibrary.org/obo/DOID_0111245 palmoplantar keratoderma and congenital alopecia 2 http://purl.obolibrary.org/obo/DOID_0080015 physical disorder An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. http://purl.obolibrary.org/obo/DOID_0110979 Sugarman brachydactyly http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. http://purl.obolibrary.org/obo/DOID_14796 Dubowitz syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. http://purl.obolibrary.org/obo/DOID_0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. http://purl.obolibrary.org/obo/DOID_0110980 Joubert syndrome 1 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_14798 Blount's disease http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. http://purl.obolibrary.org/obo/DOID_0111247 hypertension and brachydactyly syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. http://purl.obolibrary.org/obo/DOID_0110981 Joubert syndrome 10 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_0110982 Joubert syndrome 13 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_1483 gingival disease http://purl.obolibrary.org/obo/DOID_3388 periodontal disease A periodontal disease that is located_in the gums. http://purl.obolibrary.org/obo/DOID_0111248 cerebrocostomandibular syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. http://purl.obolibrary.org/obo/DOID_0110983 Joubert syndrome 14 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_1485 cystic fibrosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. http://purl.obolibrary.org/obo/DOID_0111249 uveal coloboma-cleft lip and palate-intellectual disability http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1. http://purl.obolibrary.org/obo/DOID_0110984 Joubert syndrome 15 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. http://purl.obolibrary.org/obo/DOID_1495 cystic echinococcosis http://purl.obolibrary.org/obo/DOID_936 brain disease An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. http://purl.obolibrary.org/obo/DOID_0110985 Joubert syndrome 16 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. http://purl.obolibrary.org/obo/DOID_0111250 Parkinson's disease 3 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. http://purl.obolibrary.org/obo/DOID_1496 echinococcosis http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. http://purl.obolibrary.org/obo/DOID_0110986 Joubert syndrome 17 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. http://purl.obolibrary.org/obo/DOID_0111251 Parkinson's disease 21 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. http://purl.obolibrary.org/obo/DOID_1498 cholera http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. http://purl.obolibrary.org/obo/DOID_0110987 Joubert syndrome 18 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0111252 vestibular schwannomatosis http://purl.obolibrary.org/obo/DOID_3204 schwannomatosis A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. http://purl.obolibrary.org/obo/DOID_15 reproductive system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in reproductive system organs. http://purl.obolibrary.org/obo/DOID_0110988 Joubert syndrome 2 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. http://purl.obolibrary.org/obo/DOID_0111253 neurofibromatosis 1 http://purl.obolibrary.org/obo/DOID_8712 neurofibromatosis A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. http://purl.obolibrary.org/obo/DOID_150 disease of mental health http://purl.obolibrary.org/obo/DOID_4 disease A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. http://purl.obolibrary.org/obo/DOID_0110989 Joubert syndrome 20 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_0111254 glutaric acidemia I http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_1508 candidiasis http://purl.obolibrary.org/obo/DOID_2473 opportunistic mycosis An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. http://purl.obolibrary.org/obo/DOID_0110990 Joubert syndrome 21 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. http://purl.obolibrary.org/obo/DOID_0110991 Joubert syndrome 22 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0111255 McKusick-Kaufman syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. http://purl.obolibrary.org/obo/DOID_1509 avoidant personality disorder http://purl.obolibrary.org/obo/DOID_1510 personality disorder A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. http://purl.obolibrary.org/obo/DOID_0110992 Joubert syndrome 23 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0111256 hyperferritinemia-cataract syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. http://purl.obolibrary.org/obo/DOID_1510 personality disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. http://purl.obolibrary.org/obo/DOID_0110993 Joubert syndrome 24 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0111257 gamma-glutamyl transpeptidase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. http://purl.obolibrary.org/obo/DOID_0111258 pentosuria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. http://purl.obolibrary.org/obo/DOID_1512 chronic gonorrhea of cervix http://purl.obolibrary.org/obo/DOID_1513 chronic cervicitis A chronic cervicitis that is caused by gonorrhea. http://purl.obolibrary.org/obo/DOID_0110994 Joubert syndrome 25 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0111259 postaxial acrofacial dysostosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. http://purl.obolibrary.org/obo/DOID_1513 chronic cervicitis http://purl.obolibrary.org/obo/DOID_2568 cervicitis A cervicitis that is present for weeks or more. http://purl.obolibrary.org/obo/DOID_0110995 Joubert syndrome 26 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_0111260 phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. http://purl.obolibrary.org/obo/DOID_1517 cecal benign neoplasm http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm An intestinal benign neoplasm that is located_in the cecum. http://purl.obolibrary.org/obo/DOID_0110996 Joubert syndrome 27 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. http://purl.obolibrary.org/obo/DOID_0111261 fumarase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. http://purl.obolibrary.org/obo/DOID_1518 cecal disease http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease located_in the cecum. http://purl.obolibrary.org/obo/DOID_0110997 Joubert syndrome 28 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. http://purl.obolibrary.org/obo/DOID_1519 cecum carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0110998 Joubert syndrome 3 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. http://purl.obolibrary.org/obo/DOID_0111263 combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. http://purl.obolibrary.org/obo/DOID_1520 colon carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0110999 Joubert syndrome 4 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_0111264 Ruijs-Aalfs syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. http://purl.obolibrary.org/obo/DOID_1521 cecum cancer http://purl.obolibrary.org/obo/DOID_5672 large intestine cancer A large intestine cancer that is located_in the cecum. http://purl.obolibrary.org/obo/DOID_0111000 Joubert syndrome 5 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. http://purl.obolibrary.org/obo/DOID_0070333 breast implant-associated anaplastic large cell lymphoma http://purl.obolibrary.org/obo/DOID_0050749 peripheral T-cell lymphoma A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. http://purl.obolibrary.org/obo/DOID_1526 panniculitis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A skin disease that is characterized by inflammation of subcutaneous adipose tissue. http://purl.obolibrary.org/obo/DOID_0111001 Joubert syndrome 6 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_0111002 Joubert syndrome 7 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. http://purl.obolibrary.org/obo/DOID_0080589 Klippel-Feil syndrome 1 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_1532 pleural disease http://purl.obolibrary.org/obo/DOID_0050161 lower respiratory tract disease A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. http://purl.obolibrary.org/obo/DOID_0111003 Joubert syndrome 8 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. http://purl.obolibrary.org/obo/DOID_0080590 Klippel-Feil syndrome 2 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_154 mixed cell type cancer http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. http://purl.obolibrary.org/obo/DOID_0111004 Joubert syndrome 9 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_0080591 Klippel-Feil syndrome 3 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_1540 parathyroid carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma An endocrine gland cancer located_in the parathyroid glands located in the neck. http://purl.obolibrary.org/obo/DOID_0111005 cone-rod dystrophy 2 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080592 Klippel-Feil syndrome 4 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_0080593 orofacial cleft 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_1542 head and neck carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. http://purl.obolibrary.org/obo/DOID_0111006 X-linked cone-rod dystrophy 2 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. http://purl.obolibrary.org/obo/DOID_0080594 hyper IgE recurrent infection syndrome 2 http://purl.obolibrary.org/obo/DOID_0080545 hyper IgE syndrome A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_1554 vibratory urticaria http://purl.obolibrary.org/obo/DOID_0060220 physical urticaria A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0111007 X-linked cone-rod dystrophy 3 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_1555 urticaria http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. http://purl.obolibrary.org/obo/DOID_0080595 autosomal recessive hyper-IgE syndrome 3 with recurrent infections http://purl.obolibrary.org/obo/DOID_0080545 hyper IgE syndrome A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_1556 arthus reaction http://purl.obolibrary.org/obo/DOID_1557 hypersensitivity reaction type III disease A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls. http://purl.obolibrary.org/obo/DOID_1557 hypersensitivity reaction type III disease http://purl.obolibrary.org/obo/DOID_0060056 hypersensitivity reaction disease A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury. http://purl.obolibrary.org/obo/DOID_1558 angioedema http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. http://purl.obolibrary.org/obo/DOID_0111008 X-linked cone-rod dystrophy 1 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_0080596 hyper IgE recurrent infection syndrome 4 http://purl.obolibrary.org/obo/DOID_0080545 hyper IgE syndrome A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. http://purl.obolibrary.org/obo/DOID_0111009 cone-rod dystrophy 1 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. http://purl.obolibrary.org/obo/DOID_0111505 palmoplantar keratoderma-deafness syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. http://purl.obolibrary.org/obo/DOID_1562 chromoblastomycosis http://purl.obolibrary.org/obo/DOID_0050135 subcutaneous mycosis A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. http://purl.obolibrary.org/obo/DOID_0111010 cone-rod dystrophy 5 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. http://purl.obolibrary.org/obo/DOID_0111011 cone-rod dystrophy 6 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0111012 cone-rod dystrophy 7 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13. http://purl.obolibrary.org/obo/DOID_0111506 palmoplantar keratoderma-esophageal carcinoma syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_1563 dermatomycosis http://purl.obolibrary.org/obo/DOID_37 skin disease A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. http://purl.obolibrary.org/obo/DOID_0111013 cone-rod dystrophy 3 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. http://purl.obolibrary.org/obo/DOID_0111507 Lenz-Majewski hyperostotic dwarfism http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_1564 fungal infectious disease http://purl.obolibrary.org/obo/DOID_0050117 disease by infectious agent A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. http://purl.obolibrary.org/obo/DOID_0111014 cone-rod dystrophy 8 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. http://purl.obolibrary.org/obo/DOID_0111508 Torrance type platyspondylic dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. http://purl.obolibrary.org/obo/DOID_1572 normal pressure hydrocephalus http://purl.obolibrary.org/obo/DOID_1573 communicating hydrocephalus A communicating hydrocephalus characterized by normal cerebrospinal fluid pressure, gait instability, cognitive decline, and impaired bladder control. Onset is usually in late adulthood. http://purl.obolibrary.org/obo/DOID_0111015 Newfoundland cone-rod dystrophy http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_0111016 cone-rod dystrophy 13 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/DOID_0111509 lymphedema-distichiasis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/DOID_1573 communicating hydrocephalus http://purl.obolibrary.org/obo/DOID_10908 hydrocephalus A hydrocephalus characterized by cerebrospinal fluid flow without obstruction in the ventricular system. http://purl.obolibrary.org/obo/DOID_0111017 cone-rod dystrophy 10 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0111510 Marshall syndrome http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. http://purl.obolibrary.org/obo/DOID_0111511 melanoma and neural system tumor syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. http://purl.obolibrary.org/obo/DOID_0111512 metachondromatosis http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. http://purl.obolibrary.org/obo/DOID_0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. http://purl.obolibrary.org/obo/DOID_0111514 metatropic dysplasia http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. http://purl.obolibrary.org/obo/DOID_0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. http://purl.obolibrary.org/obo/DOID_1574 alcohol use disorder http://purl.obolibrary.org/obo/DOID_302 substance abuse A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. http://purl.obolibrary.org/obo/DOID_0111018 cone-rod dystrophy 11 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. http://purl.obolibrary.org/obo/DOID_1575 rheumatic disease http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. http://purl.obolibrary.org/obo/DOID_1579 respiratory system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. http://purl.obolibrary.org/obo/DOID_0111019 cone-rod dystrophy 12 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. http://purl.obolibrary.org/obo/DOID_1583 laryngeal tuberculosis http://purl.obolibrary.org/obo/DOID_3437 laryngitis A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. http://purl.obolibrary.org/obo/DOID_0111020 cone-rod dystrophy 9 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. http://purl.obolibrary.org/obo/DOID_0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. http://purl.obolibrary.org/obo/DOID_1584 acute chest syndrome http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. http://purl.obolibrary.org/obo/DOID_1586 rheumatic fever http://purl.obolibrary.org/obo/DOID_104 bacterial infectious disease A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever. http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease that is characterized by low a platelet count in the blood. http://purl.obolibrary.org/obo/DOID_0111021 cone-rod dystrophy 15 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. http://purl.obolibrary.org/obo/DOID_0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. http://purl.obolibrary.org/obo/DOID_1595 melancholic depression http://purl.obolibrary.org/obo/DOID_1470 major depressive disorder A major depressive disorder characterized by near-complete absence of pleasure. http://purl.obolibrary.org/obo/DOID_0111022 cone-rod dystrophy 16 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/DOID_1596 depressive disorder http://purl.obolibrary.org/obo/DOID_3324 mood disorder A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function. http://purl.obolibrary.org/obo/DOID_0111023 cone-rod dystrophy 17 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. http://purl.obolibrary.org/obo/DOID_0111521 autosomal dominant progressive external ophthalmoplegia 1 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_16 integumentary system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. http://purl.obolibrary.org/obo/DOID_0111024 cone-rod dystrophy 18 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_0111522 autosomal recessive progressive external ophthalmoplegia 1 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_1602 lymphadenitis http://purl.obolibrary.org/obo/DOID_9942 lymph node disease A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes. http://purl.obolibrary.org/obo/DOID_0111025 cone-rod dystrophy 19 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/DOID_0111026 cone-rod dystrophy 20 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. http://purl.obolibrary.org/obo/DOID_1607 hypoglycemic coma http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma. http://purl.obolibrary.org/obo/DOID_0111526 Mullerian aplasia and hyperandrogenism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. http://purl.obolibrary.org/obo/DOID_0111027 hemochromatosis type 2A http://purl.obolibrary.org/obo/DOID_0111034 hemochromatosis type 2 A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_161 keratosis http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized_by growth of keratin on the skin or mucous membranes. http://purl.obolibrary.org/obo/DOID_1612 breast cancer http://purl.obolibrary.org/obo/DOID_3463 breast disease An organ system cancer that originates in the mammary gland. http://purl.obolibrary.org/obo/DOID_0111527 spinal muscular atrophy with progressive myoclonic epilepsy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. http://purl.obolibrary.org/obo/DOID_0111028 hemochromatosis type 4 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. http://purl.obolibrary.org/obo/DOID_1614 male breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer that occurs in males. http://purl.obolibrary.org/obo/DOID_0111528 Naegeli-Franceschetti-Jadassohn syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_0111029 hemochromatosis type 1 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. http://purl.obolibrary.org/obo/DOID_1616 benign eccrine breast spiradenoma http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit). http://purl.obolibrary.org/obo/DOID_0111529 familial multiple nevi flammei http://purl.obolibrary.org/obo/DOID_1271 capillary disease A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. http://purl.obolibrary.org/obo/DOID_0111030 hemochromatosis type 3 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_1618 breast fibroadenoma http://purl.obolibrary.org/obo/DOID_657 adenoma A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. http://purl.obolibrary.org/obo/DOID_0111530 linear nevus sebaceous syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. http://purl.obolibrary.org/obo/DOID_0111031 hemochromatosis type 5 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_162 cancer http://purl.obolibrary.org/obo/DOID_14566 disease of cellular proliferation A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. http://purl.obolibrary.org/obo/DOID_0111531 bilateral optic nerve hypoplasia http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_0111032 hemochromatosis type 2B http://purl.obolibrary.org/obo/DOID_0111034 hemochromatosis type 2 A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0111033 African iron overload http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. http://purl.obolibrary.org/obo/DOID_1623 breast leiomyoma http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that has_material_basis_in smooth muscle cells. http://purl.obolibrary.org/obo/DOID_1625 breast adenoma http://purl.obolibrary.org/obo/DOID_657 adenoma A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures. http://purl.obolibrary.org/obo/DOID_1626 breast duct papilloma http://purl.obolibrary.org/obo/DOID_2615 papilloma An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue. http://purl.obolibrary.org/obo/DOID_0111532 osteoglophonic dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. http://purl.obolibrary.org/obo/DOID_0111034 hemochromatosis type 2 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. http://purl.obolibrary.org/obo/DOID_1628 intraductal papillary breast neoplasm http://purl.obolibrary.org/obo/DOID_3013 intraductal breast benign neoplasm An intraductal breast benign neoplasm that is characterized by fingerlike growth projections. http://purl.obolibrary.org/obo/DOID_0111533 gnathodiaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. http://purl.obolibrary.org/obo/DOID_0111035 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 http://purl.obolibrary.org/obo/DOID_13945 CADASIL A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_1629 breast myofibroblastoma http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation. http://purl.obolibrary.org/obo/DOID_0111534 multicentric carpotarsal osteolysis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. http://purl.obolibrary.org/obo/DOID_0111036 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 http://purl.obolibrary.org/obo/DOID_13945 CADASIL A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_1631 benign breast phyllodes tumor http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast. http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy http://purl.obolibrary.org/obo/DOID_3044 food allergy A food allergy triggered by a vegetable food product. http://purl.obolibrary.org/obo/DOID_0111037 glycine N-methyltransferase deficiency http://purl.obolibrary.org/obo/DOID_0050544 hypermethioninemia A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0070335 celery allergy http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy A vegetable allergy triggered by celery (Apium graveolens). http://purl.obolibrary.org/obo/DOID_1637 breast angiomatosis http://purl.obolibrary.org/obo/DOID_3463 breast disease A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia. http://purl.obolibrary.org/obo/DOID_0111038 hypermethioninemia due to adenosine kinase deficiency http://purl.obolibrary.org/obo/DOID_0050544 hypermethioninemia A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_1638 central nervous system tuberculosis http://purl.obolibrary.org/obo/DOID_331 central nervous system disease An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. http://purl.obolibrary.org/obo/DOID_0070337 epithelial recurrent erosion dystrophy http://purl.obolibrary.org/obo/DOID_0060440 epithelial and subepithelial dystrophy An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. http://purl.obolibrary.org/obo/DOID_0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase http://purl.obolibrary.org/obo/DOID_0050544 hypermethioninemia A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_0080618 lymph node carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_1639 skeletal tuberculosis http://purl.obolibrary.org/obo/DOID_0080001 bone disease An extrapulmonary tuberculosis that results in formation of lesions located in bone. http://purl.obolibrary.org/obo/DOID_1641 benign breast adenomyoepithelioma http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells. http://purl.obolibrary.org/obo/DOID_0111040 glycogen storage disease IXd http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An adrenal cortex disease that is characterized by insufficient production of glucocorticoids. http://purl.obolibrary.org/obo/DOID_1642 breast adenomyoepithelioma http://purl.obolibrary.org/obo/DOID_3004 breast myoepithelial neoplasm A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. http://purl.obolibrary.org/obo/DOID_0111041 glycogen storage disease IXb http://purl.obolibrary.org/obo/DOID_0050594 glycogen storage disease IX A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. http://purl.obolibrary.org/obo/DOID_0111042 glycogen storage disease IXa1 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_0080621 glucocorticoid deficiency 1 http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_1647 female breast upper-inner quadrant cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the upper-inner quadrant of the breast. http://purl.obolibrary.org/obo/DOID_0111043 glycogen storage disease IXc http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_0111044 gray platelet syndrome http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0080622 peroxisome biogenesis disorder 2B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3. http://purl.obolibrary.org/obo/DOID_1649 female breast lower-inner quadrant cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the lower-inner quadrant of the breast. http://purl.obolibrary.org/obo/DOID_0111045 platelet-type bleeding disorder 9 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/DOID_0080623 Heimler syndrome 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_1650 female breast axillary tail cancer http://purl.obolibrary.org/obo/DOID_0050671 female breast cancer A female breast cancer that is located_in the breast tissue extending into the axilla. http://purl.obolibrary.org/obo/DOID_0111046 platelet-type bleeding disorder 10 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_1657 ventricular septal defect http://purl.obolibrary.org/obo/DOID_1681 heart septal defect A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. http://purl.obolibrary.org/obo/DOID_0080624 Heimler syndrome 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0111047 platelet-type bleeding disorder 14 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0111048 platelet-type bleeding disorder 19 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_0111049 platelet-type bleeding disorder 17 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0111050 Quebec platelet disorder http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_1659 supratentorial cancer http://purl.obolibrary.org/obo/DOID_1319 brain cancer A brain cancer that is located in the supratentorial region. http://purl.obolibrary.org/obo/DOID_0080625 severe congenital neutropenia 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0111051 platelet-type bleeding disorder 18 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_1664 pineoblastoma http://purl.obolibrary.org/obo/DOID_5032 pineal gland cancer A pineal gland neoplasm located_in the brain. http://purl.obolibrary.org/obo/DOID_0080626 corticosterone methyloxidase deficiency 1 http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. http://purl.obolibrary.org/obo/DOID_1672 spontaneous tension pneumothorax http://purl.obolibrary.org/obo/DOID_1673 pneumothorax A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath. http://purl.obolibrary.org/obo/DOID_0111052 Scott syndrome http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. http://purl.obolibrary.org/obo/DOID_1673 pneumothorax http://purl.obolibrary.org/obo/DOID_1532 pleural disease A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall. http://purl.obolibrary.org/obo/DOID_1678 chronic interstitial cystitis http://purl.obolibrary.org/obo/DOID_1680 chronic cystitis A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency. http://purl.obolibrary.org/obo/DOID_0111053 platelet-type bleeding disorder 15 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. http://purl.obolibrary.org/obo/DOID_0080628 alopecia-mental retardation syndrome 1 http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/DOID_365 bladder disease A bladder disease that is characterized by inflammation of the bladder. http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease http://purl.obolibrary.org/obo/DOID_114 heart disease A physical disorder that is characterized by problems with the heart's structure that are present at birth. http://purl.obolibrary.org/obo/DOID_0111054 von Willebrand's disease 3 http://purl.obolibrary.org/obo/DOID_12531 von Willebrand's disease A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0080629 alopecia-mental retardation syndrome 2 http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. http://purl.obolibrary.org/obo/DOID_1686 glaucoma http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. http://purl.obolibrary.org/obo/DOID_0111055 platelet-type bleeding disorder 20 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0111056 platelet-type bleeding disorder 3 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0080631 Elsahy-Waters syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. http://purl.obolibrary.org/obo/DOID_1687 neovascular glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases. http://purl.obolibrary.org/obo/DOID_0111057 platelet-type bleeding disorder 11 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080632 Fazio-Londe disease http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_169 neuroendocrine tumor http://purl.obolibrary.org/obo/DOID_170 endocrine gland cancer An endocrine gland cancer that has_material_basis_in neuroendocrine cells. http://purl.obolibrary.org/obo/DOID_1697 ichthyosis http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. http://purl.obolibrary.org/obo/DOID_0111058 platelet-type bleeding disorder 12 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. http://purl.obolibrary.org/obo/DOID_0080633 developmental cardiac valvular defect http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_17 musculoskeletal system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that occurs in the muscular and/or skeletal system. http://purl.obolibrary.org/obo/DOID_0111059 Bernard-Soulier syndrome type A2 http://purl.obolibrary.org/obo/DOID_2217 Bernard-Soulier syndrome A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. http://purl.obolibrary.org/obo/DOID_0080634 nanophthalmos http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. http://purl.obolibrary.org/obo/DOID_170 endocrine gland cancer http://purl.obolibrary.org/obo/DOID_0050686 organ system cancer An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. http://purl.obolibrary.org/obo/DOID_0111060 Ambras type hypertrichosis universalis congenita http://purl.obolibrary.org/obo/DOID_420 hypertrichosis A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. http://purl.obolibrary.org/obo/DOID_0080635 optic disc anomalies with retinal and/or macular dystrophy http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_1700 X-linked ichthyosis http://purl.obolibrary.org/obo/DOID_1697 ichthyosis An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_0111061 familial hypobetalipoproteinemia 2 http://purl.obolibrary.org/obo/DOID_1390 hypobetalipoproteinemia A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder that involves defects in steroid metabolism. http://purl.obolibrary.org/obo/DOID_0111062 familial hypobetalipoproteinemia 1 http://purl.obolibrary.org/obo/DOID_1390 hypobetalipoproteinemia A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. http://purl.obolibrary.org/obo/DOID_0080637 isolated microphthalmia http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that occurs by itself. http://purl.obolibrary.org/obo/DOID_1702 ichthyosis vulgaris http://purl.obolibrary.org/obo/DOID_1697 ichthyosis An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. http://purl.obolibrary.org/obo/DOID_1712 aortic valve stenosis http://purl.obolibrary.org/obo/DOID_62 aortic valve disease An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening. http://purl.obolibrary.org/obo/DOID_0111063 hyperphosphatemic familial tumoral calcinosis http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. http://purl.obolibrary.org/obo/DOID_0080641 tongue carcinoma http://purl.obolibrary.org/obo/DOID_8649 tongue cancer A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. http://purl.obolibrary.org/obo/DOID_1725 peritoneum cancer http://purl.obolibrary.org/obo/DOID_0050686 organ system cancer An organ system cancer that is located in the peritoneum. http://purl.obolibrary.org/obo/DOID_0111064 autosomal recessive distal hereditary motor neuronopathy 1 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0111697 cleft palate, cardiac defects, and intellectual disability http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_0111698 proprotein convertase 1/3 deficiency http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. http://purl.obolibrary.org/obo/DOID_1731 histoplasmosis http://purl.obolibrary.org/obo/DOID_0050292 primary systemic mycosis A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. http://purl.obolibrary.org/obo/DOID_0111065 autosomal recessive distal hereditary motor neuronopathy 2 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_0111699 Van den Ende-Gupta syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_1733 cryptosporidiosis http://purl.obolibrary.org/obo/DOID_5295 intestinal disease A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. http://purl.obolibrary.org/obo/DOID_0111066 congenital bile acid synthesis defect 5 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0111700 ankyrin-B-related cardiac arrhythmia http://purl.obolibrary.org/obo/DOID_114 heart disease A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. http://purl.obolibrary.org/obo/DOID_1738 small intestine leiomyoma http://purl.obolibrary.org/obo/DOID_7505 small intestine benign neoplasm A small intestine benign neoplasm that is located_in the small intestine. http://purl.obolibrary.org/obo/DOID_1748 conjunctival squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_5467 conjunctival cancer A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. http://purl.obolibrary.org/obo/DOID_0111067 congenital bile acid synthesis defect 6 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. http://purl.obolibrary.org/obo/DOID_0111701 long QT syndrome 4 http://purl.obolibrary.org/obo/DOID_2843 long QT syndrome A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A carcinoma that derives_from squamous epithelial cells. http://purl.obolibrary.org/obo/DOID_0111702 loose anagen hair syndrome http://purl.obolibrary.org/obo/DOID_987 alopecia An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age. http://purl.obolibrary.org/obo/DOID_0111068 congenital bile acid synthesis defect 4 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. http://purl.obolibrary.org/obo/DOID_175 vascular cancer http://purl.obolibrary.org/obo/DOID_178 vascular disease A cardiovascular cancer that is located_in blood vessels. http://purl.obolibrary.org/obo/DOID_0111703 familial hypertryptophanemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. http://purl.obolibrary.org/obo/DOID_0111069 congenital bile acid synthesis defect 2 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve. http://purl.obolibrary.org/obo/DOID_0111704 chromosome 2q37 deletion syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. http://purl.obolibrary.org/obo/DOID_0111070 congenital bile acid synthesis defect 3 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. http://purl.obolibrary.org/obo/DOID_176 cardiovascular cancer http://purl.obolibrary.org/obo/DOID_1287 cardiovascular system disease An organ system cancer that located_in the heart and blood vessels. http://purl.obolibrary.org/obo/DOID_0111705 oculoectodermal syndrome http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. http://purl.obolibrary.org/obo/DOID_0111071 congenital bile acid synthesis defect 1 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. http://purl.obolibrary.org/obo/DOID_1762 cheilitis http://purl.obolibrary.org/obo/DOID_9297 lip disease A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. http://purl.obolibrary.org/obo/DOID_0111706 oblique facial clefting 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. http://purl.obolibrary.org/obo/DOID_0111707 Bothnian type palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. http://purl.obolibrary.org/obo/DOID_0111072 myostatin-related muscle hypertrophy http://purl.obolibrary.org/obo/DOID_66 muscle tissue disease A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/DOID_1766 factitious disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. http://purl.obolibrary.org/obo/DOID_178 vascular disease http://purl.obolibrary.org/obo/DOID_1287 cardiovascular system disease A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. http://purl.obolibrary.org/obo/DOID_0111708 focal nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050428 nonepidermolytic palmoplantar keratoderma A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. http://purl.obolibrary.org/obo/DOID_1781 thyroid cancer http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage. http://purl.obolibrary.org/obo/DOID_0111709 focal nonepidermolytic palmoplantar keratoderma 1 http://purl.obolibrary.org/obo/DOID_0111708 focal nonepidermolytic palmoplantar keratoderma A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_0111074 progressive familial heart block type IA http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_1787 pericarditis http://purl.obolibrary.org/obo/DOID_0050829 pericardium disease A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. http://purl.obolibrary.org/obo/DOID_0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0111075 progressive familial heart block type II http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. http://purl.obolibrary.org/obo/DOID_18 urinary system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. http://purl.obolibrary.org/obo/DOID_182 calcinosis http://purl.obolibrary.org/obo/DOID_10575 calcium metabolism disease A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. http://purl.obolibrary.org/obo/DOID_0111076 progressive familial heart block type IB http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_1826 epilepsy http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. http://purl.obolibrary.org/obo/DOID_0111711 focal nonepidermolytic palmoplantar keratoderma 2 http://purl.obolibrary.org/obo/DOID_0111708 focal nonepidermolytic palmoplantar keratoderma A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0111077 congenital nonspherocytic hemolytic anemia 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_1827 generalized epilepsy http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. http://purl.obolibrary.org/obo/DOID_0111712 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0111078 tibial muscular dystrophy http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0111079 birdshot chorioretinopathy http://purl.obolibrary.org/obo/DOID_12574 posterior uveitis A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. http://purl.obolibrary.org/obo/DOID_0111080 Fanconi anemia complementation group V http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_184 bone cancer http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. http://purl.obolibrary.org/obo/DOID_0111713 Temple syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0111081 Fanconi anemia complementation group T http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_1882 atrial heart septal defect http://purl.obolibrary.org/obo/DOID_1681 heart septal defect A heart septal defect located_in in the septum that separates the two atria of the heart. http://purl.obolibrary.org/obo/DOID_0111714 Mulchandani-Bhoj-Conlin syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. http://purl.obolibrary.org/obo/DOID_0111082 Fanconi anemia complementation group L http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. http://purl.obolibrary.org/obo/DOID_1884 viral hepatitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A hepatitis that involves viral infection causing inflammation of the liver. http://purl.obolibrary.org/obo/DOID_0111715 Schaaf-Yang syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. http://purl.obolibrary.org/obo/DOID_0111083 Fanconi anemia complementation group D2 http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0111824 Aarskog syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease A cranial nerve disease that is located_in the optic nerve. http://purl.obolibrary.org/obo/DOID_0111084 Fanconi anemia complementation group E http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. http://purl.obolibrary.org/obo/DOID_0080831 subjective cognitive decline http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints. http://purl.obolibrary.org/obo/DOID_1909 melanoma http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. http://purl.obolibrary.org/obo/DOID_192 sex cord-gonadal stromal tumor http://purl.obolibrary.org/obo/DOID_193 reproductive organ cancer A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. http://purl.obolibrary.org/obo/DOID_0111085 Fanconi anemia complementation group U http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_0111086 Fanconi anemia complementation group G http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_0111087 Fanconi anemia complementation group C http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0080832 mild cognitive impairment http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living. http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development http://purl.obolibrary.org/obo/DOID_2277 gonadal disease A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex. http://purl.obolibrary.org/obo/DOID_0111088 Fanconi anemia complementation group F http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0080833 laryngomalacia http://purl.obolibrary.org/obo/DOID_786 laryngeal disease A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. http://purl.obolibrary.org/obo/DOID_1924 hypogonadism http://purl.obolibrary.org/obo/DOID_2277 gonadal disease A gonadal disease that is characterized by diminished functional activity of the gonads. http://purl.obolibrary.org/obo/DOID_0111089 Fanconi anemia complementation group D1 http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. http://purl.obolibrary.org/obo/DOID_0080834 acquired laryngomalacia http://purl.obolibrary.org/obo/DOID_786 laryngeal disease A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. http://purl.obolibrary.org/obo/DOID_0111090 Fanconi anemia complementation group R http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_0080835 TORCH syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. http://purl.obolibrary.org/obo/DOID_193 reproductive organ cancer http://purl.obolibrary.org/obo/DOID_15 reproductive system disease An organ system cancer that is manifested in the reproductive organs. http://purl.obolibrary.org/obo/DOID_0111091 Fanconi anemia complementation group I http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_0112153 hypomyelinating leukodystrophy 20 http://purl.obolibrary.org/obo/DOID_0060786 hypomyelinating leukodystrophy A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_1934 dysostosis http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that results in defective ossification of bone. http://purl.obolibrary.org/obo/DOID_0111092 Fanconi anemia complementation group P http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0111093 Fanconi anemia complementation group Q http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0112154 inflammatory bowel disease 30 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/DOID_1935 Bardet-Biedl syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa, vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. http://purl.obolibrary.org/obo/DOID_1936 atherosclerosis http://purl.obolibrary.org/obo/DOID_2348 arteriosclerotic cardiovascular disease An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries. http://purl.obolibrary.org/obo/DOID_0111094 Fanconi anemia complementation group N http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_0112155 inflammatory bowel disease 29 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1. http://purl.obolibrary.org/obo/DOID_1962 fallopian tube disease http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is located_in the fallopian tube. http://purl.obolibrary.org/obo/DOID_1969 cerebral palsy http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. http://purl.obolibrary.org/obo/DOID_1984 rectal benign neoplasm http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm An intestinal benign neoplasm located_in the rectum. http://purl.obolibrary.org/obo/DOID_2000 otosalpingitis http://purl.obolibrary.org/obo/DOID_9739 eustachian tube disease A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. http://purl.obolibrary.org/obo/DOID_0111095 Fanconi anemia complementation group A http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0112156 X-linked dyserythropoietic anemia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. http://purl.obolibrary.org/obo/DOID_0112157 X-linked atrophic macular degeneration http://purl.obolibrary.org/obo/DOID_4448 macular degeneration A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A musculoskeletal system cancer that is located_in connective tissue. http://purl.obolibrary.org/obo/DOID_0111096 Fanconi anemia complementation group O http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. http://purl.obolibrary.org/obo/DOID_0112158 De Sanctis-Cacchione syndrome http://purl.obolibrary.org/obo/DOID_0050427 xeroderma pigmentosum A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. http://purl.obolibrary.org/obo/DOID_0112159 autosomal dominant nonsyndromic deafness 78 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. http://purl.obolibrary.org/obo/DOID_2030 anxiety disorder http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations. http://purl.obolibrary.org/obo/DOID_0111097 Fanconi anemia complementation group J http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0112160 autosomal dominant nonsyndromic deafness 79 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. http://purl.obolibrary.org/obo/DOID_2033 communication disorder http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder that involves specific developmental disorders of speech and language. http://purl.obolibrary.org/obo/DOID_0111098 Fanconi anemia complementation group B http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_0112161 Noonan syndrome 13 http://purl.obolibrary.org/obo/DOID_3490 Noonan syndrome A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. http://purl.obolibrary.org/obo/DOID_2034 encephalomalacia http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system. http://purl.obolibrary.org/obo/DOID_204 enthesopathy http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation. http://purl.obolibrary.org/obo/DOID_0111099 maturity-onset diabetes of the young type 1 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. http://purl.obolibrary.org/obo/DOID_0112162 autosomal recessive nonsyndromic deafness 116 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0112163 spermatogenic failure 45 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0112164 spermatogenic failure 46 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. http://purl.obolibrary.org/obo/DOID_205 hyperostosis http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease that results in an abnormal growth of located in bone. http://purl.obolibrary.org/obo/DOID_0111100 maturity-onset diabetes of the young type 2 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. http://purl.obolibrary.org/obo/DOID_2051 maxillary sinusitis http://purl.obolibrary.org/obo/DOID_0050127 sinusitis A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. http://purl.obolibrary.org/obo/DOID_0112165 autosomal dominant nonsyndromic deafness 74 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. http://purl.obolibrary.org/obo/DOID_0111101 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0111102 maturity-onset diabetes of the young type 3 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0111103 maturity-onset diabetes of the young type 4 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. http://purl.obolibrary.org/obo/DOID_0111104 maturity-onset diabetes of the young type 6 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0111105 maturity-onset diabetes of the young type 8 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. http://purl.obolibrary.org/obo/DOID_0111106 maturity-onset diabetes of the young type 7 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_0112166 autosomal dominant nonsyndromic deafness 75 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. http://purl.obolibrary.org/obo/DOID_2059 vulvar disease http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is located_in the vulva. http://purl.obolibrary.org/obo/DOID_2113 coccidiosis http://purl.obolibrary.org/obo/DOID_2789 parasitic protozoa infectious disease A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. http://purl.obolibrary.org/obo/DOID_0111107 maturity-onset diabetes of the young type 9 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. http://purl.obolibrary.org/obo/DOID_0111108 maturity-onset diabetes of the young type 10 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_0112167 autosomal dominant nonsyndromic deafness 76 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. http://purl.obolibrary.org/obo/DOID_0111109 maturity-onset diabetes of the young type 11 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. http://purl.obolibrary.org/obo/DOID_2123 tularemia http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues. http://purl.obolibrary.org/obo/DOID_0112168 autosomal dominant nonsyndromic deafness 77 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. http://purl.obolibrary.org/obo/DOID_0111110 maturity-onset diabetes of the young type 13 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_2133 central nervous system sarcoma http://purl.obolibrary.org/obo/DOID_3620 central nervous system cancer A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm. http://purl.obolibrary.org/obo/DOID_0112169 Noonan syndrome 11 http://purl.obolibrary.org/obo/DOID_3490 Noonan syndrome A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. http://purl.obolibrary.org/obo/DOID_0111111 maturity-onset diabetes of the young type 14 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. http://purl.obolibrary.org/obo/DOID_2149 urogenital tuberculosis http://purl.obolibrary.org/obo/DOID_0050598 extrapulmonary tuberculosis An extrapulmonary tuberculosis that is located_in urogenital system. http://purl.obolibrary.org/obo/DOID_0112170 Noonan syndrome 12 http://purl.obolibrary.org/obo/DOID_3490 Noonan syndrome A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. http://purl.obolibrary.org/obo/DOID_0111112 nephronophthisis 1 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_216 dental caries http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel. http://purl.obolibrary.org/obo/DOID_0112171 wrinkly skin syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0111113 nephronophthisis 2 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. http://purl.obolibrary.org/obo/DOID_2170 vaginitis http://purl.obolibrary.org/obo/DOID_121 vaginal disease A vaginal disease that is characterized by inflammation of the vagina. http://purl.obolibrary.org/obo/DOID_0112172 hereditary combined deficiency of vitamin K-dependent clotting factors http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. http://purl.obolibrary.org/obo/DOID_0111114 nephronophthisis 3 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. http://purl.obolibrary.org/obo/DOID_2187 amelogenesis imperfecta http://purl.obolibrary.org/obo/DOID_0050177 monogenic disease A dental enamel hypoplasia characterized by abnormal enamel formation. http://purl.obolibrary.org/obo/DOID_0112173 combined deficiency of vitamin K-dependent clotting factors 1 http://purl.obolibrary.org/obo/DOID_0112172 hereditary combined deficiency of vitamin K-dependent clotting factors A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. http://purl.obolibrary.org/obo/DOID_0111115 nephronophthisis 4 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. http://purl.obolibrary.org/obo/DOID_219 colon cancer http://purl.obolibrary.org/obo/DOID_9256 colorectal cancer A colorectal cancer that is located_in the colon. http://purl.obolibrary.org/obo/DOID_0112174 combined deficiency of vitamin K-dependent clotting factors 2 http://purl.obolibrary.org/obo/DOID_0112172 hereditary combined deficiency of vitamin K-dependent clotting factors A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0111116 nephronophthisis 7 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. http://purl.obolibrary.org/obo/DOID_0080836 growth hormone insensitivity syndrome with immune dysregulation 1 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0111117 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_222 perichondritis of auricle http://purl.obolibrary.org/obo/DOID_9463 otitis externa An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. http://purl.obolibrary.org/obo/DOID_0080837 growth hormone insensitivity syndrome with immune dysregulation 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0111118 nephronophthisis 11 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. http://purl.obolibrary.org/obo/DOID_0080839 X-linked warfarin sensitivity http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. http://purl.obolibrary.org/obo/DOID_2237 hepatitis http://purl.obolibrary.org/obo/DOID_409 liver disease A liver disease that is characterized as an inflammation of the liver. http://purl.obolibrary.org/obo/DOID_0080840 optic atrophy 12 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_224 transient cerebral ischemia http://purl.obolibrary.org/obo/DOID_2316 brain ischemia A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death. http://purl.obolibrary.org/obo/DOID_0111119 nephronophthisis 12 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_0080842 intracranial meningioma http://purl.obolibrary.org/obo/DOID_3565 meningioma A meningioma that arises within the cranial cavity. http://purl.obolibrary.org/obo/DOID_225 syndrome http://purl.obolibrary.org/obo/DOID_4 disease A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. http://purl.obolibrary.org/obo/DOID_0111120 nephronophthisis 9 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_0111121 nephronophthisis 13 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. http://purl.obolibrary.org/obo/DOID_0080843 supratentorial meningioma http://purl.obolibrary.org/obo/DOID_3565 meningioma A meningioma that affects the supratentorial brain. http://purl.obolibrary.org/obo/DOID_2253 cervix disease http://purl.obolibrary.org/obo/DOID_345 uterine disease An uterine disease that is located_in the cervix. http://purl.obolibrary.org/obo/DOID_0080844 omodysplasia 1 http://purl.obolibrary.org/obo/DOID_0060288 omodysplasia An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_0111122 nephronophthisis 14 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. http://purl.obolibrary.org/obo/DOID_0111123 nephronophthisis 15 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. http://purl.obolibrary.org/obo/DOID_0111124 nephronophthisis 16 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia http://purl.obolibrary.org/obo/DOID_1222 cartilage disease A bone development disease that results_in defective development of cartilage or bone. http://purl.obolibrary.org/obo/DOID_0080845 omodysplasia 2 http://purl.obolibrary.org/obo/DOID_0060288 omodysplasia An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0111125 nephronophthisis 18 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. http://purl.obolibrary.org/obo/DOID_227 ankylosis http://purl.obolibrary.org/obo/DOID_381 arthropathy An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease http://purl.obolibrary.org/obo/DOID_15 reproductive system disease A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. http://purl.obolibrary.org/obo/DOID_231 motor neuron disease http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease that is located_in the motor neurons. http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis http://purl.obolibrary.org/obo/DOID_11971 synostosis A synostosis that results_in premature fusion located_in skull. http://purl.obolibrary.org/obo/DOID_0080846 latent autoimmune diabetes in adults http://purl.obolibrary.org/obo/DOID_9744 type 1 diabetes mellitus A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. http://purl.obolibrary.org/obo/DOID_0111126 nephronophthisis 19 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. http://purl.obolibrary.org/obo/DOID_2345 plasma protein metabolism disease http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves plasma protein metabolism malfunction. http://purl.obolibrary.org/obo/DOID_0080848 long COVID http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. http://purl.obolibrary.org/obo/DOID_0111127 nephronophthisis 20 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_0111128 focal segmental glomerulosclerosis 1 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_0111129 focal segmental glomerulosclerosis 2 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1. http://purl.obolibrary.org/obo/DOID_0111130 focal segmental glomerulosclerosis 5 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33. http://purl.obolibrary.org/obo/DOID_2349 arteriosclerosis http://purl.obolibrary.org/obo/DOID_0050828 artery disease An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. http://purl.obolibrary.org/obo/DOID_0112175 spermatogenic failure 47 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1. http://purl.obolibrary.org/obo/DOID_0111131 focal segmental glomerulosclerosis 6 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2. http://purl.obolibrary.org/obo/DOID_235 colonic benign neoplasm http://purl.obolibrary.org/obo/DOID_5353 colonic disease An intestinal benign neoplasm that is located_in the colon. http://purl.obolibrary.org/obo/DOID_0112176 spermatogenic failure 48 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1. http://purl.obolibrary.org/obo/DOID_0112177 Mayer-Rokitansky-Kuster-Hauser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. http://purl.obolibrary.org/obo/DOID_0111132 focal segmental glomerulosclerosis 7 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/DOID_2355 anemia http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. http://purl.obolibrary.org/obo/DOID_0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 http://purl.obolibrary.org/obo/DOID_0112177 Mayer-Rokitansky-Kuster-Hauser syndrome A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. http://purl.obolibrary.org/obo/DOID_2361 macrocytic anemia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL). http://purl.obolibrary.org/obo/DOID_0111133 focal segmental glomerulosclerosis 8 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2. http://purl.obolibrary.org/obo/DOID_0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 http://purl.obolibrary.org/obo/DOID_0112177 Mayer-Rokitansky-Kuster-Hauser syndrome A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. http://purl.obolibrary.org/obo/DOID_2365 West Nile encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. http://purl.obolibrary.org/obo/DOID_2377 multiple sclerosis http://purl.obolibrary.org/obo/DOID_3213 demyelinating disease A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. http://purl.obolibrary.org/obo/DOID_2383 neonatal jaundice http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. http://purl.obolibrary.org/obo/DOID_0111134 focal segmental glomerulosclerosis 9 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_0112180 urocanase deficiency http://purl.obolibrary.org/obo/DOID_9265 histidine metabolism disease A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. http://purl.obolibrary.org/obo/DOID_2394 ovarian cancer http://purl.obolibrary.org/obo/DOID_120 female reproductive organ cancer A female reproductive organ cancer that is located_in the ovary. http://purl.obolibrary.org/obo/DOID_2452 thrombophilia http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease that is characterized by an increased tendency to form clots. http://purl.obolibrary.org/obo/DOID_0111135 congenital generalized lipodystrophy type 1 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_0112181 Schinzel type phocomelia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe malformations of upper and lower limbs, severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/DOID_0112182 mismatch repair cancer syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis http://purl.obolibrary.org/obo/DOID_0050328 congenital hypothyroidism A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. http://purl.obolibrary.org/obo/DOID_2456 blepharoconjunctivitis http://purl.obolibrary.org/obo/DOID_9423 blepharitis A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. http://purl.obolibrary.org/obo/DOID_0111136 congenital generalized lipodystrophy type 2 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. http://purl.obolibrary.org/obo/DOID_0112184 thyroid dyshormonogenesis 5 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. http://purl.obolibrary.org/obo/DOID_2468 psychotic disorder http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. http://purl.obolibrary.org/obo/DOID_0111137 congenital generalized lipodystrophy type 3 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. http://purl.obolibrary.org/obo/DOID_0112185 thyroid dyshormonogenesis 1 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_2473 opportunistic mycosis http://purl.obolibrary.org/obo/DOID_0050136 systemic mycosis A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. http://purl.obolibrary.org/obo/DOID_0111138 congenital generalized lipodystrophy type 4 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_0080193 superior semicircular canal dehiscence http://purl.obolibrary.org/obo/DOID_2952 inner ear disease An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. http://purl.obolibrary.org/obo/DOID_0112186 thyroid dyshormonogenesis 2A http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia http://purl.obolibrary.org/obo/DOID_607 paraplegia A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. http://purl.obolibrary.org/obo/DOID_2494 angiodysplasia http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized as a small vascular malformation of the gut. http://purl.obolibrary.org/obo/DOID_0080194 Carey-Fineman-Ziter syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. http://purl.obolibrary.org/obo/DOID_0112187 thyroid dyshormonogenesis 3 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. http://purl.obolibrary.org/obo/DOID_2527 nephrosis http://purl.obolibrary.org/obo/DOID_576 proteinuria A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation. http://purl.obolibrary.org/obo/DOID_2531 hematologic cancer http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. http://purl.obolibrary.org/obo/DOID_0080195 Marinesco-Sjogren syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. http://purl.obolibrary.org/obo/DOID_0112188 thyroid dyshormonogenesis 4 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment. http://purl.obolibrary.org/obo/DOID_0080196 mandibulofacial dysostosis, Guion-Almeida type http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. http://purl.obolibrary.org/obo/DOID_0112189 thyroid dyshormonogenesis 6 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. http://purl.obolibrary.org/obo/DOID_0112190 distal arthrogryposis type 1C http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_255 hemangioma http://purl.obolibrary.org/obo/DOID_178 vascular disease A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood. http://purl.obolibrary.org/obo/DOID_0080197 congenital muscular dystrophy with cataracts and intellectual disability http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0112191 tetraamelia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system. http://purl.obolibrary.org/obo/DOID_0112192 tetraamelia syndrome 1 http://purl.obolibrary.org/obo/DOID_0112191 tetraamelia syndrome A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. http://purl.obolibrary.org/obo/DOID_0112193 tetraamelia syndrome 2 http://purl.obolibrary.org/obo/DOID_0112191 tetraamelia syndrome A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. http://purl.obolibrary.org/obo/DOID_2557 chondromalacia http://purl.obolibrary.org/obo/DOID_6227 articular cartilage disease A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint. http://purl.obolibrary.org/obo/DOID_0080198 infantile histiocytoid cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. http://purl.obolibrary.org/obo/DOID_0060904 legume allergy http://purl.obolibrary.org/obo/DOID_0060503 fruit allergy A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. http://purl.obolibrary.org/obo/DOID_0080661 nonsyndromic aplasia cutis congenita http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. http://purl.obolibrary.org/obo/DOID_0112194 Filippi syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. http://purl.obolibrary.org/obo/DOID_0112195 spondyloperipheral dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. http://purl.obolibrary.org/obo/DOID_2568 cervicitis http://purl.obolibrary.org/obo/DOID_2253 cervix disease A cervix disease that is characterized by inflammation of the cervix. http://purl.obolibrary.org/obo/DOID_0112196 spondylometaepiphyseal dysplasia, short limb-hand type http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. http://purl.obolibrary.org/obo/DOID_0080662 atrial standstill 1 http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. http://purl.obolibrary.org/obo/DOID_2580 rhizomelic chondrodysplasia punctata http://purl.obolibrary.org/obo/DOID_2581 chondrodysplasia punctata A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. http://purl.obolibrary.org/obo/DOID_0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_0080663 atrial standstill 2 http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_2581 chondrodysplasia punctata http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency that is caused by a reduction in all types of gamma globulins. http://purl.obolibrary.org/obo/DOID_0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. http://purl.obolibrary.org/obo/DOID_2596 larynx cancer http://purl.obolibrary.org/obo/DOID_786 laryngeal disease A respiratory system cancer that is located_in the larynx. http://purl.obolibrary.org/obo/DOID_26 pancreas disease http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease that is located_in the pancreas. http://purl.obolibrary.org/obo/DOID_0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. http://purl.obolibrary.org/obo/DOID_0080665 warfarin resistance http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin. http://purl.obolibrary.org/obo/DOID_2602 chondroma http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. http://purl.obolibrary.org/obo/DOID_0080875 IDH-mutant anaplastic astrocytoma http://purl.obolibrary.org/obo/DOID_3078 anaplastic astrocytoma An anaplastic astrocytoma carrying IDH mutations. http://purl.obolibrary.org/obo/DOID_0080666 warfarin sensitivity http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. http://purl.obolibrary.org/obo/DOID_0111790 congenital nystagmus 1 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene (FERM domain-containing-7) on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_2615 papilloma http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue. http://purl.obolibrary.org/obo/DOID_2658 dermoid cyst http://purl.obolibrary.org/obo/DOID_2660 cystic teratoma A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). http://purl.obolibrary.org/obo/DOID_0080876 IDH-wildtype anaplastic astrocytoma http://purl.obolibrary.org/obo/DOID_3078 anaplastic astrocytoma An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. http://purl.obolibrary.org/obo/DOID_0111791 congenital nystagmus 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1. http://purl.obolibrary.org/obo/DOID_2703 synovitis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. http://purl.obolibrary.org/obo/DOID_0080877 astrocytoma, IDH-mutant, grade 4 http://purl.obolibrary.org/obo/DOID_0080875 IDH-mutant anaplastic astrocytoma An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. http://purl.obolibrary.org/obo/DOID_0111792 congenital nystagmus 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease http://purl.obolibrary.org/obo/DOID_409 liver disease A vascular disease that is located_in the liver. http://purl.obolibrary.org/obo/DOID_2722 acrodermatitis http://purl.obolibrary.org/obo/DOID_2723 dermatitis A dermatitis that selectively affects the hands and feet. http://purl.obolibrary.org/obo/DOID_0080878 IDH-wildtype glioblastoma http://purl.obolibrary.org/obo/DOID_3068 glioblastoma A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. http://purl.obolibrary.org/obo/DOID_0111793 congenital nystagmus 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2. http://purl.obolibrary.org/obo/DOID_2723 dermatitis http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. http://purl.obolibrary.org/obo/DOID_0080879 histone mutated tumor http://purl.obolibrary.org/obo/DOID_3070 high grade glioma A high grade glioma that has_material_basis_in mutations in the genes encoding histones. http://purl.obolibrary.org/obo/DOID_0111795 congenital nystagmus 6 http://purl.obolibrary.org/obo/DOID_9649 congenital nystagmus A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_2731 vesiculobullous skin disease http://purl.obolibrary.org/obo/DOID_8502 bullous skin disease A bullous skin disease that is characterized by fluid filled blisters. http://purl.obolibrary.org/obo/DOID_0080880 diffuse glioma, H3 G34 mutant http://purl.obolibrary.org/obo/DOID_0080879 histone mutated tumor A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. http://purl.obolibrary.org/obo/DOID_0080881 pleomorphic xanthoastrocytoma BRAF mutant http://purl.obolibrary.org/obo/DOID_0080854 anaplastic pleomorphic xanthoastrocytoma An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. http://purl.obolibrary.org/obo/DOID_0111796 congenital nystagmus 5 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_2741 bilirubin metabolic disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. http://purl.obolibrary.org/obo/DOID_0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma http://purl.obolibrary.org/obo/DOID_7154 anaplastic oligodendroglioma An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). http://purl.obolibrary.org/obo/DOID_0111797 autosomal recessive congenital nystagmus http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital nystagmus characterized by autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/DOID_0050155 sensory system disease A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia. http://purl.obolibrary.org/obo/DOID_0111798 X-linked nephrolithiasis type I http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0111799 syndromic microphthalmia 1 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0111800 syndromic microphthalmia 12 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. http://purl.obolibrary.org/obo/DOID_0111801 syndromic microphthalmia 3 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease http://purl.obolibrary.org/obo/DOID_0050728 glycogen metabolism disorder A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. http://purl.obolibrary.org/obo/DOID_0080884 vitamin D-dependent rickets type 2A http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. http://purl.obolibrary.org/obo/DOID_0111802 syndromic microphthalmia 14 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. http://purl.obolibrary.org/obo/DOID_2762 bone carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0080885 vitamin D-dependent rickets type 2B http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. http://purl.obolibrary.org/obo/DOID_0080886 vitamin D-dependent rickets type 1A http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0111803 syndromic microphthalmia 8 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. http://purl.obolibrary.org/obo/DOID_2769 tic disorder http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occurring intermittently and unpredictably out of a background of normal motor activity. http://purl.obolibrary.org/obo/DOID_0080887 vitamin D-dependent rickets type 1B http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0080888 spinal ependymoma, MYCN-amplified http://purl.obolibrary.org/obo/DOID_5503 spinal cord ependymoma A spinal cord ependymoma that is characterized by MYCN amplification. http://purl.obolibrary.org/obo/DOID_0111804 syndromic microphthalmia 11 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. http://purl.obolibrary.org/obo/DOID_2786 cerebellar disease http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome. http://purl.obolibrary.org/obo/DOID_0080889 posterior fossa ependymoma http://purl.obolibrary.org/obo/DOID_5074 high grade ependymoma A high grade ependymoma that is located within the posterior fossa. http://purl.obolibrary.org/obo/DOID_0111805 syndromic microphthalmia 6 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. http://purl.obolibrary.org/obo/DOID_2789 parasitic protozoa infectious disease http://purl.obolibrary.org/obo/DOID_1398 parasitic infectious disease A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. http://purl.obolibrary.org/obo/DOID_0080890 supratentorial ependymoma http://purl.obolibrary.org/obo/DOID_5074 high grade ependymoma A high grade ependymoma that is located within the supratentorial brain. http://purl.obolibrary.org/obo/DOID_0111806 syndromic microphthalmia 5 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. http://purl.obolibrary.org/obo/DOID_2797 idiopathic interstitial pneumonia http://purl.obolibrary.org/obo/DOID_552 pneumonia A pneumonia located_in the lung parenchyma of unknown cause. http://purl.obolibrary.org/obo/DOID_0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma http://purl.obolibrary.org/obo/DOID_0080890 supratentorial ependymoma A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. http://purl.obolibrary.org/obo/DOID_0111807 syndromic microphthalmia 9 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. http://purl.obolibrary.org/obo/DOID_28 endocrine system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. http://purl.obolibrary.org/obo/DOID_0080892 RELA fusion-positive ependymoma http://purl.obolibrary.org/obo/DOID_0080890 supratentorial ependymoma A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. http://purl.obolibrary.org/obo/DOID_0111808 linear skin defects with multiple congenital anomalies 1 http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_2841 asthma http://purl.obolibrary.org/obo/DOID_1176 bronchial disease A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. http://purl.obolibrary.org/obo/DOID_0080893 Bainbridge-Ropers syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0080894 lipofibromatosis-like neural tumor http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. http://purl.obolibrary.org/obo/DOID_0080895 rapidly involuting congenital hemangioma http://purl.obolibrary.org/obo/DOID_255 hemangioma A hemangioma that is characterized by complete regression. http://purl.obolibrary.org/obo/DOID_0111809 syndromic microphthalmia 2 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_2843 long QT syndrome http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). http://purl.obolibrary.org/obo/DOID_0080896 pericytoma with t(7;12) http://purl.obolibrary.org/obo/DOID_3316 perivascular tumor A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. http://purl.obolibrary.org/obo/DOID_0111811 syndromic microphthalmia 13 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_285 hairy cell leukemia http://purl.obolibrary.org/obo/DOID_1040 chronic lymphocytic leukemia A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope. http://purl.obolibrary.org/obo/DOID_0080897 solitary fibrous tumor/hemangiopericytoma http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. http://purl.obolibrary.org/obo/DOID_0111812 syndromic microphthalmia 10 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. http://purl.obolibrary.org/obo/DOID_2862 glucosephosphate dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). http://purl.obolibrary.org/obo/DOID_0080898 cerebellofaciodental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0080669 posterior polymorphous corneal dystrophy 4 http://purl.obolibrary.org/obo/DOID_0060457 posterior polymorphous corneal dystrophy A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_289 endometriosis http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. http://purl.obolibrary.org/obo/DOID_2914 immune system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in the immune system. http://purl.obolibrary.org/obo/DOID_0070375 developmental and epileptic encephalopathy 64 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_0080670 Meesmann corneal dystrophy 1 http://purl.obolibrary.org/obo/DOID_0060451 Meesmann corneal dystrophy A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_2916 hypersensitivity reaction type IV disease http://purl.obolibrary.org/obo/DOID_0060056 hypersensitivity reaction disease A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response. http://purl.obolibrary.org/obo/DOID_0070364 bradyopsia 2 http://purl.obolibrary.org/obo/DOID_0050335 bradyopsia A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080671 Meesmann corneal dystrophy 2 http://purl.obolibrary.org/obo/DOID_0060451 Meesmann corneal dystrophy A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/DOID_10952 nephritis A nephritis that causes inflammation of the glomeruli located_in kidney. http://purl.obolibrary.org/obo/DOID_0070366 nevoid basal cell carcinoma syndrome 2 http://purl.obolibrary.org/obo/DOID_2512 nevoid basal cell carcinoma syndrome A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0080672 fibrochondrogenesis 1 http://purl.obolibrary.org/obo/DOID_0060465 fibrochondrogenesis A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0080673 fibrochondrogenesis 2 http://purl.obolibrary.org/obo/DOID_0060465 fibrochondrogenesis A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. http://purl.obolibrary.org/obo/DOID_2952 inner ear disease http://purl.obolibrary.org/obo/DOID_2742 auditory system disease An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium. http://purl.obolibrary.org/obo/DOID_0080674 luminal breast carcinoma B http://purl.obolibrary.org/obo/DOID_3459 breast carcinoma A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. http://purl.obolibrary.org/obo/DOID_2959 hyperimmunoglobulin syndrome http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. http://purl.obolibrary.org/obo/DOID_0070367 leukoencephalopathy with vanishing white matter 5 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_2965 bursitis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that is characterized by the inflammation of bursae, small, fluid-filled sacs that cushion the bones, tendons and muscles near your joints. http://purl.obolibrary.org/obo/DOID_0080675 Stickler syndrome 2 http://purl.obolibrary.org/obo/DOID_0080046 Stickler syndrome A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0080676 Stickler syndrome 1 http://purl.obolibrary.org/obo/DOID_0080046 Stickler syndrome A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0070371 leukoencephalopathy with vanishing white matter 4 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. http://purl.obolibrary.org/obo/DOID_0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. http://purl.obolibrary.org/obo/DOID_0070372 leukoencephalopathy with vanishing white matter 3 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_299 adenocarcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. http://purl.obolibrary.org/obo/DOID_2998 testicular cancer http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer A male reproductive system cancer that is located_in the testicles. http://purl.obolibrary.org/obo/DOID_0080678 mucolipidosis III gamma http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0070373 leukoencephalopathy with vanishing white matter 2 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_3004 breast myoepithelial neoplasm http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane. http://purl.obolibrary.org/obo/DOID_0080679 neuronal intestinal dysplasia type A http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. http://purl.obolibrary.org/obo/DOID_0070376 developmental and epileptic encephalopathy 31B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_3013 intraductal breast benign neoplasm http://purl.obolibrary.org/obo/DOID_0060082 breast benign neoplasm A breast benign neoplasm that is located_in the breast ducts. http://purl.obolibrary.org/obo/DOID_0080680 neuronal intestinal dysplasia type B http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. http://purl.obolibrary.org/obo/DOID_0070396 progressive leukoencephalopathy with ovarian failure http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_302 substance abuse http://purl.obolibrary.org/obo/DOID_303 substance-related disorder A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. http://purl.obolibrary.org/obo/DOID_0080681 X-linked chronic idiopathic intestinal pseudo-obstruction http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0070424 combined oxidative phosphorylation deficiency 44 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_0070425 combined oxidative phosphorylation deficiency 52 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_303 substance-related disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. http://purl.obolibrary.org/obo/DOID_0080682 autosomal dominant familial visceral neuropathy http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. http://purl.obolibrary.org/obo/DOID_0070426 combined oxidative phosphorylation deficiency 53 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_3044 food allergy http://purl.obolibrary.org/obo/DOID_0060502 gastrointestinal allergy A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. http://purl.obolibrary.org/obo/DOID_0080683 nonsyndromic congenital nail disorder http://purl.obolibrary.org/obo/DOID_4123 nail disease A nail disease that is characterized by underdevelopment of nails. http://purl.obolibrary.org/obo/DOID_0070427 combined oxidative phosphorylation deficiency 54 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_305 carcinoma http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0080684 diffuse midline glioma, H3 K27-altered http://purl.obolibrary.org/obo/DOID_3070 high grade glioma A histone mutated tumor that is characterized by loss of histone H3 p.K28me3 (K27me3) methylation and located throughout the midline structures of the central nervous system. Methylation loss may be due to p.K28M (K27M) mutation in one of the histone H3 isoforms (H3.1, H3.2, or H3.3), overexpression of EZHIP, or mutation of the EGFR gene. http://purl.obolibrary.org/obo/DOID_0080685 aortic dissection http://purl.obolibrary.org/obo/DOID_520 aortic disease An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. http://purl.obolibrary.org/obo/DOID_0070428 combined oxidative phosphorylation deficiency 55 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_3068 glioblastoma http://purl.obolibrary.org/obo/DOID_3069 malignant astrocytoma A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. http://purl.obolibrary.org/obo/DOID_0080686 tubular aggregate myopathy 2 http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_3070 high grade glioma http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine. http://purl.obolibrary.org/obo/DOID_0070429 combined oxidative phosphorylation deficiency 56 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. http://purl.obolibrary.org/obo/DOID_0080687 reducing body myopathy 1B http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0070430 combined oxidative phosphorylation deficiency 57 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. http://purl.obolibrary.org/obo/DOID_3093 nervous system cancer http://purl.obolibrary.org/obo/DOID_863 nervous system disease An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. http://purl.obolibrary.org/obo/DOID_3117 hepatobiliary benign neoplasm http://purl.obolibrary.org/obo/DOID_0050624 gastrointestinal system benign neoplasm A gastrointestinal system benign neoplasm located_in the hepatobiliary system. http://purl.obolibrary.org/obo/DOID_0080689 mosaic variegated aneuploidy syndrome 3 http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. http://purl.obolibrary.org/obo/DOID_0080691 Noonan syndrome-like disorder with loose anagen hair http://purl.obolibrary.org/obo/DOID_0080690 RASopathy A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. http://purl.obolibrary.org/obo/DOID_0070432 hyperphosphatasia with impaired intellectual development syndrome 5 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_3119 gastrointestinal system cancer http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. http://purl.obolibrary.org/obo/DOID_0070433 hyperphosphatasia with impaired intellectual development syndrome 1 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0080692 Noonan syndrome-like disorder with loose anagen hair 1 http://purl.obolibrary.org/obo/DOID_0080691 Noonan syndrome-like disorder with loose anagen hair A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. http://purl.obolibrary.org/obo/DOID_3121 gallbladder cancer http://purl.obolibrary.org/obo/DOID_0060262 gallbladder disease A biliary tract cancer that is located_in the gallbladder. http://purl.obolibrary.org/obo/DOID_0070434 hyperphosphatasia with impaired intellectual development syndrome 2 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_0080693 Noonan syndrome-like disorder with loose anagen hair 2 http://purl.obolibrary.org/obo/DOID_0080691 Noonan syndrome-like disorder with loose anagen hair A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_3128 anus disease http://purl.obolibrary.org/obo/DOID_1285 rectal disease A rectal disease located_in the anus. http://purl.obolibrary.org/obo/DOID_0070435 hyperphosphatasia with impaired intellectual development syndrome 3 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. http://purl.obolibrary.org/obo/DOID_0080695 Burn-McKeown syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature. http://purl.obolibrary.org/obo/DOID_3133 acute porphyria http://purl.obolibrary.org/obo/DOID_13268 porphyria A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. http://purl.obolibrary.org/obo/DOID_0070436 hyperphosphatasia with impaired intellectual development syndrome 4 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves the creation and degradation of lipids. http://purl.obolibrary.org/obo/DOID_0070437 hyperphosphatasia with impaired intellectual development syndrome 6 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_0111860 AMME complex http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. http://purl.obolibrary.org/obo/DOID_3151 skin squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_3451 skin carcinoma A skin carcinoma that has_material_basis_in squamous cells. http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy http://purl.obolibrary.org/obo/DOID_4448 macular degeneration A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. http://purl.obolibrary.org/obo/DOID_0111861 Meester-Loeys syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_3168 squamous cell neoplasm http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. http://purl.obolibrary.org/obo/DOID_3187 brain oligodendroglioma http://purl.obolibrary.org/obo/DOID_0060108 brain glioma A brain glioma that has_material_basis_in oligodendrocytes. http://purl.obolibrary.org/obo/DOID_0070439 North Carolina macular dystrophy http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. http://purl.obolibrary.org/obo/DOID_0111862 congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/DOID_12336 male infertility A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. http://purl.obolibrary.org/obo/DOID_3192 neurilemmoma http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells. http://purl.obolibrary.org/obo/DOID_0070440 retinal macular dystrophy 3 http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1. http://purl.obolibrary.org/obo/DOID_0111863 X-linked congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/DOID_0111862 congenital bilateral absence of vas deferens A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. http://purl.obolibrary.org/obo/DOID_0070441 retinal macular dystrophy 4 http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_3209 junctional epidermolysis bullosa http://purl.obolibrary.org/obo/DOID_2730 epidermolysis bullosa An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. http://purl.obolibrary.org/obo/DOID_0111864 autosomal recessive congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/DOID_0111862 congenital bilateral absence of vas deferens A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. http://purl.obolibrary.org/obo/DOID_0111865 MEND syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy http://purl.obolibrary.org/obo/DOID_0111866 trichothiodystrophy A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation. http://purl.obolibrary.org/obo/DOID_0111868 nonphotosensitive trichothiodystrophy 5 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_0070442 paroxysmal nonkinesigenic dyskinesia 3 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_3213 demyelinating disease http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons. http://purl.obolibrary.org/obo/DOID_0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. http://purl.obolibrary.org/obo/DOID_0070444 neurodevelopmental disorder with language delay and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0111869 photosensitive trichothiodystrophy 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. http://purl.obolibrary.org/obo/DOID_3234 central nervous system lymphoma http://purl.obolibrary.org/obo/DOID_5772 central nervous system hematologic cancer A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. http://purl.obolibrary.org/obo/DOID_0070445 early-onset dystonia and/or spastic paraplegia http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/DOID_0111870 nonphotosensitive trichothiodystrophy 7 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. http://purl.obolibrary.org/obo/DOID_0070446 mitochondrial DNA depletion syndrome 16 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/DOID_3246 embryonal rhabdomyosarcoma http://purl.obolibrary.org/obo/DOID_3247 rhabdomyosarcoma A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. http://purl.obolibrary.org/obo/DOID_326 ischemia http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized by a restriction in blood supply to tissues. http://purl.obolibrary.org/obo/DOID_0111871 photosensitive trichothiodystrophy 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. http://purl.obolibrary.org/obo/DOID_0111872 nonphotosensitive trichothiodystrophy 6 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. http://purl.obolibrary.org/obo/DOID_0070447 mitochondrial DNA depletion syndrome 16B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_3277 thymus cancer http://purl.obolibrary.org/obo/DOID_5093 thoracic cancer An immune system cancer located_in the thymus. http://purl.obolibrary.org/obo/DOID_0111873 photosensitive trichothiodystrophy 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/DOID_0070448 mitochondrial DNA depletion syndrome 17 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. http://purl.obolibrary.org/obo/DOID_0111874 Sabinas brittle hair syndrome http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. http://purl.obolibrary.org/obo/DOID_3302 chordoma http://purl.obolibrary.org/obo/DOID_3303 notochordal cancer A notochordal cancer that derives_from cellular remnants of the notochord. http://purl.obolibrary.org/obo/DOID_3306 mixed germ cell cancer http://purl.obolibrary.org/obo/DOID_2994 germ cell cancer A germ cell cancer that occurs in many forms. http://purl.obolibrary.org/obo/DOID_0070449 mitochondrial DNA depletion syndrome 18 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. http://purl.obolibrary.org/obo/DOID_331 central nervous system disease http://purl.obolibrary.org/obo/DOID_863 nervous system disease A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. http://purl.obolibrary.org/obo/DOID_0070450 mitochondrial DNA depletion syndrome 19 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0111876 linear skin defects with multiple congenital anomalies 3 http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_3310 atopic dermatitis http://purl.obolibrary.org/obo/DOID_3042 allergic contact dermatitis An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. http://purl.obolibrary.org/obo/DOID_0070451 mitochondrial DNA depletion syndrome 20 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0111877 linear skin defects with multiple congenital anomalies 2 http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0111878 Diamond-Blackfan anemia 7 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. http://purl.obolibrary.org/obo/DOID_3312 bipolar disorder http://purl.obolibrary.org/obo/DOID_3324 mood disorder A mood disorder that involves alternating periods of mania and depression. http://purl.obolibrary.org/obo/DOID_0081352 congenital myopathy 20 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. http://purl.obolibrary.org/obo/DOID_0111879 Diamond-Blackfan anemia 6 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. http://purl.obolibrary.org/obo/DOID_3315 lipoma http://purl.obolibrary.org/obo/DOID_0060123 connective tissue benign neoplasm A cell type benign neoplasm that is composed of lipocytes. http://purl.obolibrary.org/obo/DOID_0081353 congenital myopathy 21 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_0111880 Diamond-Blackfan anemia 17 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_332 amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/DOID_231 motor neuron disease A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. http://purl.obolibrary.org/obo/DOID_3324 mood disorder http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that involves a disturbance in mood as the predominant underlying feature. http://purl.obolibrary.org/obo/DOID_0081354 congenital myopathy 22A http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. http://purl.obolibrary.org/obo/DOID_0111881 Diamond-Blackfan anemia 8 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. http://purl.obolibrary.org/obo/DOID_3328 temporal lobe epilepsy http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes. http://purl.obolibrary.org/obo/DOID_0081355 congenital myopathy 22B http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0111882 Diamond-Blackfan anemia 12 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2. http://purl.obolibrary.org/obo/DOID_0111883 Diamond-Blackfan anemia 5 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_3331 frontal lobe epilepsy http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain. http://purl.obolibrary.org/obo/DOID_0081359 epidermolytic hyperkeratosis 2 http://purl.obolibrary.org/obo/DOID_4603 epidermolytic hyperkeratosis An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0111884 Diamond-Blackfan anemia 9 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. http://purl.obolibrary.org/obo/DOID_3342 bone inflammation disease http://purl.obolibrary.org/obo/DOID_0080001 bone disease A bone disease that results_in inflammation of the located_in bone. http://purl.obolibrary.org/obo/DOID_0081370 LADD syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. http://purl.obolibrary.org/obo/DOID_0111885 Diamond-Blackfan anemia 2 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. http://purl.obolibrary.org/obo/DOID_0081371 lacrimoauriculodentodigital syndrome 2 http://purl.obolibrary.org/obo/DOID_0081370 LADD syndrome A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. http://purl.obolibrary.org/obo/DOID_3350 mesenchymal cell neoplasm http://purl.obolibrary.org/obo/DOID_0050687 cell type cancer A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. http://purl.obolibrary.org/obo/DOID_0111886 Diamond-Blackfan anemia 19 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_3369 Ewing sarcoma http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. http://purl.obolibrary.org/obo/DOID_0081372 lacrimoauriculodentodigital syndrome 3 http://purl.obolibrary.org/obo/DOID_0081370 LADD syndrome A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. http://purl.obolibrary.org/obo/DOID_0111887 Diamond-blackfan anemia 3 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. http://purl.obolibrary.org/obo/DOID_3371 chondrosarcoma http://purl.obolibrary.org/obo/DOID_0080639 bone sarcoma A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage. http://purl.obolibrary.org/obo/DOID_0060946 Ullrich congenital muscular dystrophy 1A http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0111888 Diamond-Blackfan anemia 10 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2. http://purl.obolibrary.org/obo/DOID_3388 periodontal disease http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth. http://purl.obolibrary.org/obo/DOID_0081450 hyperimmunoglobulinemia D periodic fever syndrome http://purl.obolibrary.org/obo/DOID_2959 hyperimmunoglobulin syndrome A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0111889 Diamond-Blackfan anemia 13 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. http://purl.obolibrary.org/obo/DOID_3390 palmoplantar keratosis http://purl.obolibrary.org/obo/DOID_161 keratosis A keratosis characterized by abnormal thickening of the palms and the soles. http://purl.obolibrary.org/obo/DOID_0081451 PFAPA syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. http://purl.obolibrary.org/obo/DOID_0111890 Diamond-Blackfan anemia 4 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. http://purl.obolibrary.org/obo/DOID_3393 coronary artery disease http://purl.obolibrary.org/obo/DOID_0050828 artery disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain. http://purl.obolibrary.org/obo/DOID_0060942 Ullrich congenital muscular dystrophy 1B http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0111891 Diamond-Blackfan anemia 20 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla. http://purl.obolibrary.org/obo/DOID_0060943 Ullrich congenital muscular dystrophy 1C http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0111892 Diamond-Blackfan anemia 11 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_3426 vestibular disease http://purl.obolibrary.org/obo/DOID_2952 inner ear disease An inner ear disease that is located in the vestibular system. http://purl.obolibrary.org/obo/DOID_0060947 autosomal recessive intellectual developmental disorder 82 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. http://purl.obolibrary.org/obo/DOID_0111893 Diamond-Blackfan anemia 16 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_3437 laryngitis http://purl.obolibrary.org/obo/DOID_786 laryngeal disease A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. http://purl.obolibrary.org/obo/DOID_0081449 cone-rod dystrophy 24 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_345 uterine disease http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease that is located_in the uterus. http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_707 B-cell lymphoma A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters. http://purl.obolibrary.org/obo/DOID_0111895 Diamond-Blackfan anemia 1 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_3451 skin carcinoma http://purl.obolibrary.org/obo/DOID_4159 skin cancer A skin cancer that is located_in tissues of the skin and develops from epithelial cells. http://purl.obolibrary.org/obo/DOID_3459 breast carcinoma http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0070544 congenital glutamine deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/DOID_0111896 Diamond-Blackfan anemia 18 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/DOID_3463 breast disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in the breast. http://purl.obolibrary.org/obo/DOID_0070550 KRT1-related nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050428 nonepidermolytic palmoplantar keratoderma A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_3479 uveal cancer http://purl.obolibrary.org/obo/DOID_3480 uveal disease An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes. http://purl.obolibrary.org/obo/DOID_0070547 primary pigmented nodular adrenocortical disease 2 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2. http://purl.obolibrary.org/obo/DOID_0060971 interstitial lung disease 2 http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0080912 cerebrooculofacioskeletal syndrome 2 http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_3480 uveal disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. http://purl.obolibrary.org/obo/DOID_0112281 spondyloepiphyseal dysplasia Stanescu type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. http://purl.obolibrary.org/obo/DOID_0070584 spermatogenic failure 85 http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia A spermatogenic failure characterized by globozoospermia and reduced progressive motility that has_material_basis_in homozygous mutation in the SPACA1 gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_0112254 hepatic venoocclusive disease with immunodeficiency http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. http://purl.obolibrary.org/obo/DOID_0070605 autosomal dominant nonsyndromic deafness 85 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_3482 plague http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. http://purl.obolibrary.org/obo/DOID_0070616 glycine encephalopathy 1 http://purl.obolibrary.org/obo/DOID_9268 glycine encephalopathy A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24. http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is comprised of a shortage of a nutrient. http://purl.obolibrary.org/obo/DISDRIV_0000002 socioeconomic driver http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is related to or concerning the interaction of social and economic factors. http://purl.obolibrary.org/obo/DISDRIV_0000003 biological driver http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is of biological origin. http://purl.obolibrary.org/obo/DOID_3490 Noonan syndrome http://purl.obolibrary.org/obo/DOID_0080690 RASopathy A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. http://purl.obolibrary.org/obo/DOID_0051002 congenital dyserythropoietic anemia type IVb http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. http://purl.obolibrary.org/obo/DISDRIV_0000004 deficiency of biotin http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency A nutrient deficiency of vitamin B7 (biotin) foods like eggs, milk, and bananas. http://purl.obolibrary.org/obo/DOID_3491 Turner syndrome http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. http://purl.obolibrary.org/obo/DOID_0061146 Pan-Chung-Bellen syndrome http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11. http://purl.obolibrary.org/obo/DISDRIV_0000005 deficiency of choline http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency A nutrient deficiency of choline. http://purl.obolibrary.org/obo/DOID_3541 cerebral ventricle cancer http://purl.obolibrary.org/obo/DOID_368 cerebrum cancer A cerebrum cancer that is located_in the cerebral ventricles. http://purl.obolibrary.org/obo/CHEBI_30785 methylmercury(.) http://purl.obolibrary.org/obo/CHEBI_64909 poison A poison that is methylmercury. http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is a chemical. http://purl.obolibrary.org/obo/DOID_3565 meningioma http://purl.obolibrary.org/obo/DOID_3620 central nervous system cancer A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. http://purl.obolibrary.org/obo/DOID_3620 central nervous system cancer http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A nervous system cancer that is located_in the central nervous system. http://purl.obolibrary.org/obo/CHEBI_35446 chlorobiphenyl http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor A chloroarene that consists of a biphenyl skeleton substituted by one or more chloro groups. http://purl.obolibrary.org/obo/DISDRIV_0000007 deficiency of vitamin C http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency A nutrient deficiency of vitamin C. http://purl.obolibrary.org/obo/DOID_3627 aortic aneurysm http://purl.obolibrary.org/obo/DOID_520 aortic disease An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. http://purl.obolibrary.org/obo/NCBITaxon_6954 Dermatophagoides farinae http://purl.obolibrary.org/obo/CHEBI_50904 allergen An allergen that is an American house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home. http://purl.obolibrary.org/obo/SYMP_0020045 balance symptom http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by any of the following: dizziness or vertigo (a spinning sensation); falling or feeling as if you are going to fall; staggering when walking; lightheadedness, faintness, or a floating sensation; and confusion or disorientation. http://purl.obolibrary.org/obo/DOID_363 uterine cancer http://purl.obolibrary.org/obo/DOID_345 uterine disease A female reproductive organ cancer that is located_in the uterus. http://purl.obolibrary.org/obo/NCBITaxon_6956 Dermatophagoides pteronyssinus http://purl.obolibrary.org/obo/CHEBI_50904 allergen An allergen that is an European house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home. http://purl.obolibrary.org/obo/DOID_0081334 Nestor-Guillermo progeria syndrome http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. http://purl.obolibrary.org/obo/DOID_0081362 Pierpont syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_0081341 congenital myopathy 5 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is located_in the bladder. http://purl.obolibrary.org/obo/SYMP_0000729 pulmonary consolidation http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a region of normally compressible lung tissue that has filled with liquid instead of air. http://purl.obolibrary.org/obo/DOID_0070523 peeling skin syndrome 4 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. http://purl.obolibrary.org/obo/DOID_0070530 foveal hypoplasia 1 http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_3650 lactic acidosis http://purl.obolibrary.org/obo/DOID_0050758 metabolic acidosis A metabolic acidosis characterized by buildup of lactate. http://purl.obolibrary.org/obo/DOID_0060886 osteopathia striata with cranial sclerosis http://purl.obolibrary.org/obo/DOID_4254 osteosclerosis An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. http://purl.obolibrary.org/obo/DOID_0070524 peeling skin syndrome 5 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. http://purl.obolibrary.org/obo/DOID_0081411 B-lymphoblastic leukemia with PAX5 p.P80R http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. http://purl.obolibrary.org/obo/DOID_368 cerebrum cancer http://purl.obolibrary.org/obo/DOID_1659 supratentorial cancer A supratentorial cancer that is located_in the cerebrum. http://purl.obolibrary.org/obo/DOID_0060887 ossification of the posterior longitudinal ligament of spine http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. http://purl.obolibrary.org/obo/DOID_0081453 Dent disease 1 http://purl.obolibrary.org/obo/DOID_0050699 Dent disease A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. http://purl.obolibrary.org/obo/DOID_3690 brachial plexus neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves. http://purl.obolibrary.org/obo/DOID_0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/DOID_2226 myeloproliferative neoplasm A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. http://purl.obolibrary.org/obo/DOID_0060889 prune belly syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. http://purl.obolibrary.org/obo/DOID_0081454 Dent disease 2 http://purl.obolibrary.org/obo/DOID_0050699 Dent disease A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_3697 acute transudative otitis media http://purl.obolibrary.org/obo/DOID_11180 non-suppurative otitis media A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/DOID_16 integumentary system disease An integumentary system disease that is located_in skin. http://purl.obolibrary.org/obo/DOID_0060890 ectopic Cushing syndrome http://purl.obolibrary.org/obo/DOID_446 primary hyperaldosteronism A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. http://purl.obolibrary.org/obo/DOID_0060948 Ullrich congenital muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. http://purl.obolibrary.org/obo/DOID_0060953 ZTTK syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_3717 gastric adenocarcinoma http://purl.obolibrary.org/obo/DOID_299 adenocarcinoma A stomach carcinoma that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_0060891 Parkinson's disease 19A http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease http://purl.obolibrary.org/obo/DOID_14330 Parkinson's disease A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. http://purl.obolibrary.org/obo/DOID_0060958 orofaciodigital syndrome XIV http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_3753 Hermansky-Pudlak syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. http://purl.obolibrary.org/obo/DOID_0060893 juvenile-onset Parkinson's disease http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease http://purl.obolibrary.org/obo/DOID_14330 Parkinson's disease A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. http://purl.obolibrary.org/obo/DOID_0060895 Parkinson's disease 4 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. http://purl.obolibrary.org/obo/DOID_0060896 Parkinson's disease 23 http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. http://purl.obolibrary.org/obo/DOID_3770 pulmonary fibrosis http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes. http://purl.obolibrary.org/obo/DOID_0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common. http://purl.obolibrary.org/obo/DOID_0060897 Parkinson's disease 17 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. http://purl.obolibrary.org/obo/DOID_3798 pleural empyema http://purl.obolibrary.org/obo/DOID_1532 pleural disease A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. http://purl.obolibrary.org/obo/DOID_0070590 spermatogenic failure 91 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_0060898 Parkinson's disease 20 http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080001 bone disease A bone disease that is located_in the joint. http://purl.obolibrary.org/obo/DOID_0061002 congenital amegakaryocytic thrombocytopenia 2 http://purl.obolibrary.org/obo/DOID_0090118 congenital amegakaryocytic thrombocytopenia A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_0060900 Parkinson's disease 14 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_3817 cranial nerve palsy http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve. http://purl.obolibrary.org/obo/SYMP_0000537 cyanosis http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by a bluish or purplish discoloration (as of skin) due to deficient oxygenation of the blood. http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. http://purl.obolibrary.org/obo/DOID_3875 thrombophlebitis http://purl.obolibrary.org/obo/DOID_864 phlebitis A phlebitis that results from a blood clot in the vessel. http://purl.obolibrary.org/obo/DOID_0080174 bladder exstrophy http://purl.obolibrary.org/obo/DOID_0080173 bladder exstrophy-epispadias-cloacal exstrophy complex A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. http://purl.obolibrary.org/obo/SYMP_0000219 receptive aphasia http://purl.obolibrary.org/obo/SYMP_0000215 inability to comprehend speech An inability to comprehend speech that is characterized by an inability to understand spoken, written, or tactile speech symbols that results from damage (as by a brain lesion) to an area of the brain (as Wernicke's area) concerned with language. http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. http://purl.obolibrary.org/obo/DOID_0080175 cloacal exstrophy http://purl.obolibrary.org/obo/DOID_0080173 bladder exstrophy-epispadias-cloacal exstrophy complex A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. http://purl.obolibrary.org/obo/SYMP_0000682 altered mental status http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by a host of presentations that include changes in cognition, mood, behavior, and/or level of arousal. http://purl.obolibrary.org/obo/DOID_3904 bronchus carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A bronchus cancer that has_material_basis_in epithelial cells. http://purl.obolibrary.org/obo/DOID_0080176 meningococcal meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. http://purl.obolibrary.org/obo/SYMP_0000823 sinus bradycardia http://purl.obolibrary.org/obo/SYMP_0000231 bradycardia Sinus bradycardia is a bradycardia where the sinus rhythm is abnormally slow bradycardia consisting of a sinus rhythm at a rate lower than 60 beats per minute. http://purl.obolibrary.org/obo/SYMP_0000242 cough with bloody sputum http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by production and expectoration (bringing up) of sputum that is bright red or pink and frothy. http://purl.obolibrary.org/obo/TRANS_0000010 vehicle-borne transmission http://purl.obolibrary.org/obo/TRANS_0000002 indirect transmission Vehicle-borne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by inanimate intermediary vehicle objects. http://purl.obolibrary.org/obo/DOID_0081009 Bardet-Biedl syndrome 20 http://purl.obolibrary.org/obo/DOID_1935 Bardet-Biedl syndrome A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_3905 lung carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. http://purl.obolibrary.org/obo/DOID_3930 otitis interna http://purl.obolibrary.org/obo/DOID_2952 inner ear disease An inner ear disease which involves inflammation of the inner ear. http://purl.obolibrary.org/obo/DOID_3952 adrenal cortex disease http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An adrenal gland disease that is located_in the adrenal cortex. http://purl.obolibrary.org/obo/DOID_0080177 hepatic veno-occlusive disease http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. http://purl.obolibrary.org/obo/DOID_0080178 mucositis http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. http://purl.obolibrary.org/obo/DOID_0070336 arthrogryposis multiplex congenita-6 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A thyroid gland cancer that has_material_basis_in epithelial cells. http://purl.obolibrary.org/obo/DOID_0080179 haemophilus meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. http://purl.obolibrary.org/obo/DOID_0081126 DeSanto-Shinawi syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. http://purl.obolibrary.org/obo/DOID_0090001 Fraser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. http://purl.obolibrary.org/obo/DOID_0081127 mandibuloacral dysplasia http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. http://purl.obolibrary.org/obo/DOID_3973 medullary thyroid carcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma that has_material_basis_in parafollicular cells. http://purl.obolibrary.org/obo/DOID_3978 extrinsic cardiomyopathy http://purl.obolibrary.org/obo/DOID_0050700 cardiomyopathy A cardiomyopathy that is characterized by the pathology occurring outside of the myocardium. http://purl.obolibrary.org/obo/DOID_0090002 Tietz syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. http://purl.obolibrary.org/obo/DOID_0081128 mandibuloacral dysplasia type A lipodystrophy http://purl.obolibrary.org/obo/DOID_0081127 mandibuloacral dysplasia A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. http://purl.obolibrary.org/obo/DOID_399 tuberculosis http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. http://purl.obolibrary.org/obo/DOID_0090003 agenesis of the corpus callosum with peripheral neuropathy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_0081129 mandibuloacral dysplasia type B lipodystrophy http://purl.obolibrary.org/obo/DOID_0081127 mandibuloacral dysplasia A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. http://purl.obolibrary.org/obo/DOID_3996 urinary system cancer http://purl.obolibrary.org/obo/DOID_18 urinary system disease An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. http://purl.obolibrary.org/obo/DOID_0090004 progressive pseudorheumatoid arthropathy of childhood http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0081130 BH4-deficient hyperphenylalaninemia C http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_0081131 BH4-deficient hyperphenylalaninemia D http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_4001 ovarian carcinoma http://purl.obolibrary.org/obo/DOID_2151 malignant ovarian surface epithelial-stromal neoplasm An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary. http://purl.obolibrary.org/obo/DOID_0090005 Schwartz-Jampel syndrome 1 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. http://purl.obolibrary.org/obo/DOID_403 mouth disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is located_in the mouth. http://purl.obolibrary.org/obo/DOID_0090006 renal coloboma syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0081133 3-methylglutaconic aciduria type 7a http://purl.obolibrary.org/obo/DOID_0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_404 gastrointestinal tuberculosis http://purl.obolibrary.org/obo/DOID_0050599 abdominal tuberculosis An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting. http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. http://purl.obolibrary.org/obo/DOID_0081134 3-methylglutaconic aciduria type 7b http://purl.obolibrary.org/obo/DOID_0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_4045 muscle cancer http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A musculoskeletal system cancer that is located_in muscle. http://purl.obolibrary.org/obo/DOID_4079 heart valve disease http://purl.obolibrary.org/obo/DOID_114 heart disease A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). http://purl.obolibrary.org/obo/DOID_0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. http://purl.obolibrary.org/obo/DOID_0081135 agammaglobulinemia 2 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_4090 agnosia http://purl.obolibrary.org/obo/DOID_2033 communication disorder A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. http://purl.obolibrary.org/obo/DOID_0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0081136 agammaglobulinemia 1 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_4109 tick infestation http://purl.obolibrary.org/obo/DOID_4110 parasitic ectoparasitic infectious disease A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. http://purl.obolibrary.org/obo/DOID_0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. http://purl.obolibrary.org/obo/DOID_0081137 agammaglobulinemia 3 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_4110 parasitic ectoparasitic infectious disease http://purl.obolibrary.org/obo/DOID_1398 parasitic infectious disease A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. http://purl.obolibrary.org/obo/DOID_4123 nail disease http://purl.obolibrary.org/obo/DOID_16 integumentary system disease An integumentary system disease that is located_in nail. http://purl.obolibrary.org/obo/DOID_4137 common bile duct disease http://purl.obolibrary.org/obo/DOID_4138 bile duct disease A bile duct disease that is located_in the common bile duct. http://purl.obolibrary.org/obo/DOID_4138 bile duct disease http://purl.obolibrary.org/obo/DOID_9741 biliary tract disease A biliary tract disease located_in one or more bile ducts. http://purl.obolibrary.org/obo/DOID_4153 spinal chordoma http://purl.obolibrary.org/obo/DOID_3302 chordoma A chordoma that derives_from the spine. http://purl.obolibrary.org/obo/DOID_0090012 severe combined immunodeficiency with sensitivity to ionizing radiation http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. http://purl.obolibrary.org/obo/DOID_0081138 agammaglobulinemia 6 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_4159 skin cancer http://purl.obolibrary.org/obo/DOID_37 skin disease An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. http://purl.obolibrary.org/obo/DOID_0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. http://purl.obolibrary.org/obo/DOID_0081139 agammaglobulinemia 7 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_417 autoimmune disease http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. http://purl.obolibrary.org/obo/DOID_418 systemic scleroderma http://purl.obolibrary.org/obo/DOID_419 scleroderma A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. http://purl.obolibrary.org/obo/DOID_4184 pseudohypoparathyroidism http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face. http://purl.obolibrary.org/obo/DOID_0090014 severe combined immunodeficiency 104 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13. http://purl.obolibrary.org/obo/DOID_0081140 agammaglobulinemia 8A http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_4186 articulation disorder http://purl.obolibrary.org/obo/DOID_92 speech disorder A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. http://purl.obolibrary.org/obo/DOID_0090015 Cenani-Lenz syndactyly syndrome http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0081141 agammaglobulinemia 9 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range. http://purl.obolibrary.org/obo/DOID_0090016 chromosome 5q deletion syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. http://purl.obolibrary.org/obo/DOID_0081142 agammaglobulinemia 10 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_420 hypertrichosis http://purl.obolibrary.org/obo/DOID_421 hair disease A hair disease characterized by hair growth that is abnormal in quantity or location. http://purl.obolibrary.org/obo/DOID_0090017 epidermolysis bullosa simplex with muscular dystrophy http://purl.obolibrary.org/obo/DOID_225 syndrome An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_0081143 agammaglobulinemia 8B http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0081144 common variable immunodeficiency 1 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_4223 pyoderma http://purl.obolibrary.org/obo/DOID_2723 dermatitis A dermatitis that is characterized by a pyogenic infection causing the formation of pus. http://purl.obolibrary.org/obo/DOID_423 myopathy http://purl.obolibrary.org/obo/DOID_66 muscle tissue disease A muscular disease in which the muscle fibers do not function resulting in muscular weakness. http://purl.obolibrary.org/obo/DOID_0090018 TNF receptor–associated periodic syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0081145 common variable immunodeficiency 2 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids. http://purl.obolibrary.org/obo/DOID_0081146 common variable immunodeficiency 3 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_4254 osteosclerosis http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease that results_in abnormal elevated bone density or mass. http://purl.obolibrary.org/obo/DOID_0090019 sitosterolemia http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia. http://purl.obolibrary.org/obo/DOID_4284 anal margin carcinoma http://purl.obolibrary.org/obo/DOID_4159 skin cancer An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. http://purl.obolibrary.org/obo/DOID_0081147 common variable immunodeficiency 4 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_4330 non-Langerhans-cell histiocytosis http://purl.obolibrary.org/obo/DOID_3405 histiocytosis A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells. http://purl.obolibrary.org/obo/DOID_0090021 split hand-foot malformation 1 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. http://purl.obolibrary.org/obo/DOID_0081148 common variable immunodeficiency 5 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_4337 tinea capitis http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. http://purl.obolibrary.org/obo/DOID_0090022 split hand-foot malformation 5 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. http://purl.obolibrary.org/obo/DOID_0081149 common variable immunodeficiency 6 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. http://purl.obolibrary.org/obo/DOID_437 myasthenia gravis http://purl.obolibrary.org/obo/DOID_438 autoimmune disease of the nervous system An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. http://purl.obolibrary.org/obo/DOID_0090023 split hand-foot malformation 4 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. http://purl.obolibrary.org/obo/DOID_0081150 common variable immunodeficiency 7 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_4376 milk allergy http://purl.obolibrary.org/obo/DOID_3044 food allergy A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. http://purl.obolibrary.org/obo/DOID_0090024 split hand-foot malformation 1 with sensorineural hearing loss http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0090025 split hand-foot malformation 3 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0081151 common variable immunodeficiency 8 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. http://purl.obolibrary.org/obo/DOID_4377 egg allergy http://purl.obolibrary.org/obo/DOID_3044 food allergy A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. http://purl.obolibrary.org/obo/DOID_0090026 split hand-foot malformation 6 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0081152 common variable immunodeficiency 10 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_438 autoimmune disease of the nervous system http://purl.obolibrary.org/obo/DOID_863 nervous system disease An autoimmune disease affecting the nervous system. http://purl.obolibrary.org/obo/DOID_0090027 split hand-foot malformation 2 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. http://purl.obolibrary.org/obo/DOID_0081153 common variable immunodeficiency 11 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. http://purl.obolibrary.org/obo/DOID_439 neuromuscular junction disease http://purl.obolibrary.org/obo/DOID_440 neuromuscular disease A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. http://purl.obolibrary.org/obo/DOID_0090028 familial isolated deficiency of vitamin E http://purl.obolibrary.org/obo/DOID_0050718 vitamin metabolic disorder A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. http://purl.obolibrary.org/obo/DOID_0081154 common variable immunodeficiency 12 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_440 neuromuscular disease http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy that affect the nerves that control the voluntary muscles. http://purl.obolibrary.org/obo/DOID_0090029 CINCA Syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. http://purl.obolibrary.org/obo/DOID_0081155 common variable immunodeficiency 13 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. http://purl.obolibrary.org/obo/DOID_4448 macular degeneration http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. http://purl.obolibrary.org/obo/DOID_0090030 corticosteroid-binding globulin deficiency http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0081156 common variable immunodeficiency 14 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_446 primary hyperaldosteronism http://purl.obolibrary.org/obo/DOID_3947 adrenal gland hyperfunction An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. http://purl.obolibrary.org/obo/DOID_0090031 D-bifunctional protein deficiency http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. http://purl.obolibrary.org/obo/DOID_0081157 dilated cardiomyopathy 1LL http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_450 myotonic disease http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy A muscular dystrophy that is characterized by progressive muscle wasting and weakness. http://purl.obolibrary.org/obo/DOID_0090032 Silverman-Handmaker type dyssegmental dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0081158 dilated cardiomyopathy 1MM http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by malformations of the face, oral cavity, and digits. http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life. http://purl.obolibrary.org/obo/DOID_0081159 dilated cardiomyopathy 2C http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_4531 mucoepidermoid carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. http://purl.obolibrary.org/obo/DOID_0081160 dilated cardiomyopathy 2D http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0090034 myoclonic dystonia 11 http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis http://purl.obolibrary.org/obo/DOID_421 hair disease A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. http://purl.obolibrary.org/obo/DOID_0081161 dilated cardiomyopathy 2E http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0090035 myoclonic dystonia 15 http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11. http://purl.obolibrary.org/obo/DOID_0090036 myoclonic dystonia 26 http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_4606 bile duct cancer http://purl.obolibrary.org/obo/DOID_4138 bile duct disease A biliary tract cancer that is located_in the bile duct. http://purl.obolibrary.org/obo/DOID_0081162 dilated cardiomyopathy 2F http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0090037 torsion dystonia 13 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13. http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm http://purl.obolibrary.org/obo/DOID_5295 intestinal disease A gastrointestinal system benign neoplasm that is located_in the intestine. http://purl.obolibrary.org/obo/DOID_0090038 torsion dystonia 2 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. http://purl.obolibrary.org/obo/DOID_4644 epidermolysis bullosa simplex http://purl.obolibrary.org/obo/DOID_2730 epidermolysis bullosa An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. http://purl.obolibrary.org/obo/DOID_0081163 dilated cardiomyopathy 2G http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. http://purl.obolibrary.org/obo/DOID_0081168 HMG-CoA synthase 2 deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. http://purl.obolibrary.org/obo/DOID_0090039 torsion dystonia 6 http://purl.obolibrary.org/obo/DOID_0050835 generalized dystonia A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/DOID_10124 corneal disease A corneal disease that is characterized by inflammation of the cornea. http://purl.obolibrary.org/obo/DOID_0090040 torsion dystonia 7 http://purl.obolibrary.org/obo/DOID_0050836 focal dystonia A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p. http://purl.obolibrary.org/obo/DOID_4691 malignant mediastinal neurogenic neoplasm http://purl.obolibrary.org/obo/DOID_5559 mediastinal cancer A mediastinal cancer that has_material_basis_in neural cells. http://purl.obolibrary.org/obo/DOID_0081169 Leber congenital amaurosis 19 http://purl.obolibrary.org/obo/DOID_14791 Leber congenital amaurosis A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. http://purl.obolibrary.org/obo/DOID_4706 infratentorial cancer http://purl.obolibrary.org/obo/DOID_1319 brain cancer A brain cancer that is located_in the infratentorial region. http://purl.obolibrary.org/obo/DOID_0090041 torsion dystonia 4 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_4737 somatoform disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. http://purl.obolibrary.org/obo/DOID_0090042 torsion dystonia 17 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_15 reproductive system disease A reproductive system disease that affects male reproductive organs. http://purl.obolibrary.org/obo/DOID_0090043 dopa-responsive dystonia http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_480 movement disease http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity. http://purl.obolibrary.org/obo/DOID_0090044 dystonia 9 http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0081176 hypotonia, ataxia, and delayed development syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_4866 salivary gland adenoid cystic carcinoma http://purl.obolibrary.org/obo/DOID_0050904 salivary gland carcinoma A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. http://purl.obolibrary.org/obo/DOID_0090045 glucose transporter type 1 deficiency syndrome 2 http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0081177 autosomal recessive intellectual developmental disorder 1 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. http://purl.obolibrary.org/obo/DOID_0081178 autosomal recessive intellectual developmental disorder 2 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26. http://purl.obolibrary.org/obo/DOID_4876 trachea carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A tracheal cancer that effects the airway that leads from the larynx to the bronchi. http://purl.obolibrary.org/obo/DOID_0090046 dystonia 21 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3. http://purl.obolibrary.org/obo/DOID_0081179 autosomal recessive intellectual developmental disorder 3 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_4906 small intestine adenocarcinoma http://purl.obolibrary.org/obo/DOID_299 adenocarcinoma A small intestine carcinoma that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_0090047 paroxysmal nonkinesigenic dyskinesia 2 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31. http://purl.obolibrary.org/obo/DOID_0081180 autosomal recessive intellectual developmental disorder 12 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_4939 ureter carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma An ureter cancer that is located_in the ureter. http://purl.obolibrary.org/obo/DOID_0081181 autosomal recessive intellectual developmental disorder 5 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_0090048 dystonia 16 http://purl.obolibrary.org/obo/DOID_0050837 multifocal dystonia A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_4953 poliomyelitis http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in destruction located in motor neurons and has_material_basis_in Human poliovirus 1, 2, or 3, serotypes of Enterovirus coxsackiepol, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis. http://purl.obolibrary.org/obo/DOID_0081182 autosomal recessive intellectual developmental disorder 6 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16. http://purl.obolibrary.org/obo/DOID_0090049 paroxysmal nonkinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_4959 epidermolysis bullosa dystrophica http://purl.obolibrary.org/obo/DOID_2730 epidermolysis bullosa An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. http://purl.obolibrary.org/obo/DOID_0081183 autosomal recessive intellectual developmental disorder 7 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22. http://purl.obolibrary.org/obo/DOID_0090050 dystonia 27 http://purl.obolibrary.org/obo/DOID_0050838 segmental dystonia A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0081184 autosomal recessive intellectual developmental disorder 9/26 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus. http://purl.obolibrary.org/obo/DOID_0081185 autosomal recessive intellectual developmental disorder 10/20 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus. http://purl.obolibrary.org/obo/DOID_4960 bone marrow cancer http://purl.obolibrary.org/obo/DOID_2531 hematologic cancer A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. http://purl.obolibrary.org/obo/DOID_0090051 dystonia 23 http://purl.obolibrary.org/obo/DOID_0050836 focal dystonia A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0081186 autosomal recessive intellectual developmental disorder 11 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149. http://purl.obolibrary.org/obo/DOID_4972 myelodysplastic/myeloproliferative neoplasm http://purl.obolibrary.org/obo/DOID_0070004 myeloid neoplasm A myeloid neoplasm that results_in the overproduction of white blood cells. http://purl.obolibrary.org/obo/DOID_0090052 dystonia 24 http://purl.obolibrary.org/obo/DOID_0050836 focal dystonia A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. http://purl.obolibrary.org/obo/DOID_0081187 autosomal recessive intellectual developmental disorder 4 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3. http://purl.obolibrary.org/obo/DOID_4976 elephantiasis http://purl.obolibrary.org/obo/DOID_4977 lymphedema A lymphedema that is characterised by edema, hypertrophy, and fibrosis of skin and subcutaneous tissues, due to obstruction of lymphatic vessels resulting in the enlargement and hardening of limbs or body parts due to tissue swelling (edema). http://purl.obolibrary.org/obo/DOID_0081188 autosomal recessive intellectual developmental disorder 14 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0090053 episodic kinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_4977 lymphedema http://purl.obolibrary.org/obo/DOID_75 lymphatic system disease A lymphatic system disease that is characterized by the abnormal accumulation of lymph fluid in the body's tissues, leading to swelling. http://purl.obolibrary.org/obo/DOID_0081189 autosomal recessive intellectual developmental disorder 16 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16. http://purl.obolibrary.org/obo/DOID_0090054 episodic kinesigenic dyskinesia 2 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease that is located_in the thyroid. http://purl.obolibrary.org/obo/DOID_5032 pineal gland cancer http://purl.obolibrary.org/obo/DOID_170 endocrine gland cancer An endocrine gland located_in the pineal gland located in the brain. http://purl.obolibrary.org/obo/DOID_0081190 autosomal recessive intellectual developmental disorder 18 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_0090055 dystonia 25 http://purl.obolibrary.org/obo/DOID_0050837 multifocal dystonia A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer http://purl.obolibrary.org/obo/DOID_6050 esophageal disease A gastrointestinal system cancer that is located_in the esophagus. http://purl.obolibrary.org/obo/DOID_0081191 autosomal recessive intellectual developmental disorder 31 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838. http://purl.obolibrary.org/obo/DOID_0090056 dystonia 12 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_5093 thoracic cancer http://purl.obolibrary.org/obo/DOID_0060118 thoracic disease An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. http://purl.obolibrary.org/obo/DOID_0081192 autosomal recessive intellectual developmental disorder 29 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392. http://purl.obolibrary.org/obo/DOID_0090057 X-linked dystonia-parkinsonism http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0081193 autosomal recessive intellectual developmental disorder 27 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_5113 nutritional deficiency disease http://purl.obolibrary.org/obo/DOID_374 nutrition disease A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. http://purl.obolibrary.org/obo/DOID_5119 ovarian cyst http://purl.obolibrary.org/obo/DOID_1100 ovarian disease An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary. http://purl.obolibrary.org/obo/DOID_0090058 torsion dystonia with onset in infancy http://purl.obolibrary.org/obo/DOID_0050835 generalized dystonia A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. http://purl.obolibrary.org/obo/DOID_0081194 autosomal recessive intellectual developmental disorder 33 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925. http://purl.obolibrary.org/obo/DOID_5127 bizarre leiomyoma http://purl.obolibrary.org/obo/DOID_127 leiomyoma A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures. http://purl.obolibrary.org/obo/DOID_0090059 enhanced S-cone syndrome http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration. http://purl.obolibrary.org/obo/DOID_5143 large bowel leiomyoma http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel. http://purl.obolibrary.org/obo/DOID_0090060 Wolcott-Rallison syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2. http://purl.obolibrary.org/obo/DOID_0081195 autosomal recessive intellectual developmental disorder 30 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. http://purl.obolibrary.org/obo/DOID_5158 pleural cancer http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that located_in the pleura. http://purl.obolibrary.org/obo/DOID_0081196 autosomal recessive intellectual developmental disorder 23 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421. http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. http://purl.obolibrary.org/obo/DOID_520 aortic disease http://purl.obolibrary.org/obo/DOID_0050828 artery disease An artery disease that is characterized by degeneration of the cells composing the aortic wall. http://purl.obolibrary.org/obo/DOID_0081197 autosomal recessive intellectual developmental disorder 24 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. http://purl.obolibrary.org/obo/DOID_0090062 familial cold autoinflammatory syndrome 1 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. http://purl.obolibrary.org/obo/DOID_5212 congenital disorder of glycosylation http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. http://purl.obolibrary.org/obo/DOID_0081198 autosomal recessive intellectual developmental disorder 25 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033. http://purl.obolibrary.org/obo/DOID_0090063 familial cold autoinflammatory syndrome 2 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0081199 autosomal recessive intellectual developmental disorder 28 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609. http://purl.obolibrary.org/obo/DOID_525 central nervous system vasculitis http://purl.obolibrary.org/obo/DOID_865 vasculitis A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine. http://purl.obolibrary.org/obo/DOID_0081200 autosomal recessive intellectual developmental disorder 34 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22. http://purl.obolibrary.org/obo/DOID_0090064 familial cold autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. http://purl.obolibrary.org/obo/DOID_0081201 autosomal recessive intellectual developmental disorder 35 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258. http://purl.obolibrary.org/obo/DOID_0081202 autosomal recessive intellectual developmental disorder 37 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21. http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is located_in the intestine. http://purl.obolibrary.org/obo/DOID_0090065 familial cold autoinflammatory syndrome 4 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_0081203 autosomal recessive intellectual developmental disorder 38 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13. http://purl.obolibrary.org/obo/DOID_53 pituitary gland disease http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease that is located_in the pituitary gland. http://purl.obolibrary.org/obo/DOID_0090066 Fanconi-like syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. http://purl.obolibrary.org/obo/DOID_0090067 Fuhrmann syndrome http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0081204 autosomal recessive intellectual developmental disorder 39 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12. http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/DOID_37 skin disease An adnexa disease that is located_in the eyelid. http://purl.obolibrary.org/obo/DOID_0081205 autosomal recessive intellectual developmental disorder 40 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_0090068 giant axonal neuropathy 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_5330 dental pulp disease http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A tooth disease located_in dental pulp. http://purl.obolibrary.org/obo/DOID_0081206 autosomal recessive intellectual developmental disorder 41 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0090069 giant axonal neuropathy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_535 sleep disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that involves disruption of sleep patterns. http://purl.obolibrary.org/obo/DOID_0081207 autosomal recessive intellectual developmental disorder 43 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays. http://purl.obolibrary.org/obo/DOID_0090071 hypogonadotropic hypogonadism 11 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_0090072 hypogonadotropic hypogonadism 12 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_0090073 hypogonadotropic hypogonadism 13 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_5353 colonic disease http://purl.obolibrary.org/obo/DOID_5295 intestinal disease A intestinal disease located in the colon. http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object. http://purl.obolibrary.org/obo/DOID_5409 lung small cell carcinoma http://purl.obolibrary.org/obo/DOID_3905 lung carcinoma A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung. http://purl.obolibrary.org/obo/DOID_0081208 autosomal recessive intellectual developmental disorder 44 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0081209 autosomal recessive intellectual developmental disorder 45 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0090074 hypogonadotropic hypogonadism 8 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. http://purl.obolibrary.org/obo/DOID_0090075 hypogonadotropic hypogonadism 15 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_5419 schizophrenia http://purl.obolibrary.org/obo/DOID_2468 psychotic disorder A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. http://purl.obolibrary.org/obo/DOID_5421 lung combined type small cell carcinoma http://purl.obolibrary.org/obo/DOID_5409 lung small cell carcinoma A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. http://purl.obolibrary.org/obo/DOID_0081210 autosomal recessive intellectual developmental disorder 46 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. http://purl.obolibrary.org/obo/DOID_0090076 hypogonadotropic hypogonadism 18 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. http://purl.obolibrary.org/obo/DOID_543 dystonia http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. http://purl.obolibrary.org/obo/DOID_0081211 autosomal recessive intellectual developmental disorder 47 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43. http://purl.obolibrary.org/obo/DOID_0090077 hypogonadotropic hypogonadism 4 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_5502 lice infestation http://purl.obolibrary.org/obo/DOID_4110 parasitic ectoparasitic infectious disease A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. http://purl.obolibrary.org/obo/DOID_0081212 autosomal recessive intellectual developmental disorder 48 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_0081213 autosomal recessive intellectual developmental disorder 50 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24. http://purl.obolibrary.org/obo/DOID_0090078 hypogonadotropic hypogonadism 7 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. http://purl.obolibrary.org/obo/DOID_0090079 hypogonadotropic hypogonadism 17 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_0090080 hypogonadotropic hypogonadism 16 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_0090081 hypogonadotropic hypogonadism 22 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31. http://purl.obolibrary.org/obo/DOID_552 pneumonia http://purl.obolibrary.org/obo/DOID_850 lung disease A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. http://purl.obolibrary.org/obo/DOID_0081214 autosomal recessive intellectual developmental disorder 51 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. http://purl.obolibrary.org/obo/DOID_0090082 hypogonadotropic hypogonadism 20 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is located_in the kidney. http://purl.obolibrary.org/obo/DOID_0081215 autosomal recessive intellectual developmental disorder 52 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_0081216 autosomal recessive intellectual developmental disorder 54 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_0090083 hypogonadotropic hypogonadism 2 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. http://purl.obolibrary.org/obo/DOID_5604 adult acute lymphocytic leukemia http://purl.obolibrary.org/obo/DOID_9952 acute lymphoblastic leukemia An acute lymphocytic leukemia occurring during adulthood. http://purl.obolibrary.org/obo/DOID_0081217 autosomal recessive intellectual developmental disorder 56 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_0090084 hypogonadotropic hypogonadism 5 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. http://purl.obolibrary.org/obo/DOID_0081218 autosomal recessive intellectual developmental disorder 74 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. http://purl.obolibrary.org/obo/DOID_5612 spinal cancer http://purl.obolibrary.org/obo/DOID_3620 central nervous system cancer A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_0050155 sensory system disease An eye and adnexa disease that is located_in the eye. http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy that is located_in one of the twelve cranial nerves. http://purl.obolibrary.org/obo/DOID_0081219 autosomal recessive intellectual developmental disorder 57 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0090085 hypogonadotropic hypogonadism 9 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_0081220 autosomal recessive intellectual developmental disorder 58 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0090086 hypogonadotropic hypogonadism 6 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_5672 large intestine cancer http://purl.obolibrary.org/obo/DOID_10155 intestinal cancer An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that is located_in the retina. http://purl.obolibrary.org/obo/DOID_0081221 autosomal recessive intellectual developmental disorder 59 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_0081222 autosomal recessive intellectual developmental disorder 60 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_0090087 hypogonadotropic hypogonadism 14 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_5719 adrenal medulla cancer http://purl.obolibrary.org/obo/DOID_3953 adrenal gland cancer An adrenal gland cancer that is located_in the adrenal medulla. http://purl.obolibrary.org/obo/DOID_0081223 glycosylphosphatidylinositol biosynthesis defect 16 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_0090088 hypogonadotropic hypogonadism 24 without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. http://purl.obolibrary.org/obo/DOID_5723 optic atrophy http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. http://purl.obolibrary.org/obo/DOID_0081224 autosomal recessive intellectual developmental disorder 63 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_0090089 hypogonadotropic hypogonadism 10 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0081225 autosomal recessive intellectual developmental disorder 64 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24. http://purl.obolibrary.org/obo/DOID_5733 salpingitis http://purl.obolibrary.org/obo/DOID_1962 fallopian tube disease A fallopian tube disease that is characterized by inflammation of the fallopian tube. http://purl.obolibrary.org/obo/DOID_0090090 hypogonadotropic hypogonadism 19 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_0081226 autosomal recessive intellectual developmental disorder 65 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0090091 hypogonadotropic hypogonadism 23 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0081227 autosomal recessive intellectual developmental disorder 66 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0090092 hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_0090093 hypogonadotropic hypogonadism 21 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease http://purl.obolibrary.org/obo/DOID_863 nervous system disease A nervous system disease that affects the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_0081228 autosomal recessive intellectual developmental disorder 67 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0090094 hypogonadotropic hypogonadism 1 with or without anosmia http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_0110712 Oguchi disease-1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_5772 central nervous system hematologic cancer http://purl.obolibrary.org/obo/DOID_3620 central nervous system cancer A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. http://purl.obolibrary.org/obo/DOID_583 hemolytic anemia http://purl.obolibrary.org/obo/DOID_720 normocytic anemia A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made. http://purl.obolibrary.org/obo/DOID_0081229 autosomal recessive intellectual developmental disorder 68 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0110713 Oguchi disease-2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_5875 retroperitoneal cancer http://purl.obolibrary.org/obo/DOID_5093 thoracic cancer A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum. http://purl.obolibrary.org/obo/DOID_0081230 autosomal recessive intellectual developmental disorder 69 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12. http://purl.obolibrary.org/obo/DOID_0110910 leukocyte adhesion deficiency 1 http://purl.obolibrary.org/obo/DOID_6612 leukocyte adhesion deficiency A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_591 phobic disorder http://purl.obolibrary.org/obo/DOID_2030 anxiety disorder An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. http://purl.obolibrary.org/obo/DOID_599 specific phobia http://purl.obolibrary.org/obo/DOID_591 phobic disorder A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. http://purl.obolibrary.org/obo/DOID_5997 non-proliferative fibrocystic change of the breast http://purl.obolibrary.org/obo/DOID_10354 breast fibrocystic disease A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia. http://purl.obolibrary.org/obo/DOID_0081231 autosomal recessive intellectual developmental disorder 70 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. http://purl.obolibrary.org/obo/DOID_0110912 leukocyte adhesion deficiency 3 http://purl.obolibrary.org/obo/DOID_6612 leukocyte adhesion deficiency A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_6000 congestive heart failure http://purl.obolibrary.org/obo/DOID_114 heart disease A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. http://purl.obolibrary.org/obo/DOID_0081232 autosomal recessive intellectual developmental disorder 71 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22. http://purl.obolibrary.org/obo/DOID_0080342 Simpson-Golabi-Behmel syndrome type 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. http://purl.obolibrary.org/obo/DOID_0081233 autosomal recessive intellectual developmental disorder 73 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 http://purl.obolibrary.org/obo/DOID_8955 sideroblastic anemia A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_6025 selective immunoglobulin deficiency disease http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. http://purl.obolibrary.org/obo/DOID_0081234 autosomal recessive intellectual developmental disorder 75 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0080344 blepharocheilodontic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is located_in the esophagus. http://purl.obolibrary.org/obo/DOID_0081235 autosomal recessive intellectual developmental disorder 76 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. http://purl.obolibrary.org/obo/DOID_0080345 blepharocheilodontic syndrome 1 http://purl.obolibrary.org/obo/DOID_0080344 blepharocheilodontic syndrome A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. http://purl.obolibrary.org/obo/DOID_0080346 blepharocheilodontic syndrome 2 http://purl.obolibrary.org/obo/DOID_0080344 blepharocheilodontic syndrome A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_0081236 autosomal recessive intellectual developmental disorder 77 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_615 leukopenia http://purl.obolibrary.org/obo/DOID_9500 leukocyte disease A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. http://purl.obolibrary.org/obo/DOID_0080347 malignant pheochromocytoma http://purl.obolibrary.org/obo/DOID_5719 adrenal medulla cancer An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. http://purl.obolibrary.org/obo/DOID_0081237 acromesomelic dysplasia 3 http://purl.obolibrary.org/obo/DOID_0080049 acromesomelic dysplasia An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_6195 conjunctivitis http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. http://purl.obolibrary.org/obo/DOID_0080348 Alzheimer's disease 1 http://purl.obolibrary.org/obo/DOID_10652 Alzheimer's disease An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. http://purl.obolibrary.org/obo/DOID_62 aortic valve disease http://purl.obolibrary.org/obo/DOID_520 aortic disease A heart valve disease that is located_in the aortic valve. http://purl.obolibrary.org/obo/DOID_0080349 developmental and epileptic encephalopathy 39 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0081238 acromesomelic dysplasia 4 http://purl.obolibrary.org/obo/DOID_0080049 acromesomelic dysplasia An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. http://purl.obolibrary.org/obo/DOID_0080350 retinitis pigmentosa 77 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_6227 articular cartilage disease http://purl.obolibrary.org/obo/DOID_1222 cartilage disease A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones. http://purl.obolibrary.org/obo/DOID_0080351 CLOVES syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_0081239 injection anthrax http://purl.obolibrary.org/obo/DOID_7427 anthrax disease An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores. http://purl.obolibrary.org/obo/DOID_0080603 ankylosing spondylitis 1 http://purl.obolibrary.org/obo/DOID_7147 ankylosing spondylitis A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3. http://purl.obolibrary.org/obo/DOID_0080604 ankylosing spondylitis 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34. http://purl.obolibrary.org/obo/DOID_626 complement deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. http://purl.obolibrary.org/obo/DOID_0081329 glycogen storage disease I http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. http://purl.obolibrary.org/obo/DOID_0080605 ankylosing spondylitis 3 http://purl.obolibrary.org/obo/DOID_7147 ankylosing spondylitis A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3. http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. http://purl.obolibrary.org/obo/DOID_0081368 Paget disease of bone 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_0080606 anterior segment dysgenesis 1 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. http://purl.obolibrary.org/obo/DOID_0070527 Borrelia miyamotoi disease http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. http://purl.obolibrary.org/obo/DOID_0080607 anterior segment dysgenesis 2 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. http://purl.obolibrary.org/obo/DOID_6293 central nervous system lipoma http://purl.obolibrary.org/obo/DOID_3315 lipoma A central nervous system benign neoplasm that derives_from fat cells. http://purl.obolibrary.org/obo/DOID_630 genetic disease http://purl.obolibrary.org/obo/DOID_4 disease A disease that has_material_basis_in genetic variations in the human genome. http://purl.obolibrary.org/obo/DOID_631 fibromyalgia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression. http://purl.obolibrary.org/obo/DOID_633 myositis http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy characterized by muscle inflammation. http://purl.obolibrary.org/obo/DOID_0081426 autosomal recessive distal hereditary motor neuronopathy 7 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0080608 anterior segment dysgenesis 3 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. http://purl.obolibrary.org/obo/DOID_6364 migraine http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. http://purl.obolibrary.org/obo/DOID_0081427 autosomal recessive distal hereditary motor neuronopathy 8 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0080609 anterior segment dysgenesis 4 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. http://purl.obolibrary.org/obo/DOID_639 acute disseminated encephalomyelitis http://purl.obolibrary.org/obo/DOID_640 encephalomyelitis An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. http://purl.obolibrary.org/obo/DOID_0060978 Fanconi anemia complementation group W http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_0080610 anterior segment dysgenesis 5 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_6432 pulmonary hypertension http://purl.obolibrary.org/obo/DOID_10763 hypertension A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. http://purl.obolibrary.org/obo/DOID_646 viral encephalitis http://purl.obolibrary.org/obo/DOID_9588 encephalitis An encephalitis that involves inflammation of the brain caused by viral infection. http://purl.obolibrary.org/obo/DOID_0060979 Fanconi anemia complementation group S http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_6460 large intestine lipoma http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine. http://purl.obolibrary.org/obo/DOID_0080611 anterior segment dysgenesis 6 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_649 prion disease http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. http://purl.obolibrary.org/obo/DOID_0060980 polycystic liver disease 1 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0080612 anterior segment dysgenesis 7 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_0060981 mosaic variegated aneuploidy syndrome 4 http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_65 connective tissue disease http://purl.obolibrary.org/obo/DOID_17 musculoskeletal system disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. http://purl.obolibrary.org/obo/DOID_0080613 anterior segment dysgenesis 8 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0060983 sitosterolemia 2 http://purl.obolibrary.org/obo/DOID_0090019 sitosterolemia A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. http://purl.obolibrary.org/obo/DOID_0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/DOID_0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2. http://purl.obolibrary.org/obo/DOID_653 purine-pyrimidine metabolic disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. http://purl.obolibrary.org/obo/DOID_0111670 primary hyperoxaluria type 1 http://purl.obolibrary.org/obo/DOID_2977 primary hyperoxaluria A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. http://purl.obolibrary.org/obo/DOID_0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 http://purl.obolibrary.org/obo/DOID_0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3. http://purl.obolibrary.org/obo/DOID_0070558 autosomal recessive spinocerebellar ataxia 34 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. http://purl.obolibrary.org/obo/DOID_0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 http://purl.obolibrary.org/obo/DOID_0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13. http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 gene on chromosome 1p34.2. http://purl.obolibrary.org/obo/DOID_0070561 glucose transporter type 1 deficiency syndrome 1 http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. http://purl.obolibrary.org/obo/DOID_654 overnutrition http://purl.obolibrary.org/obo/DOID_374 nutrition disease A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. http://purl.obolibrary.org/obo/DOID_0111671 primary hyperoxaluria type 2 http://purl.obolibrary.org/obo/DOID_2977 primary hyperoxaluria A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. http://purl.obolibrary.org/obo/DOID_0070562 Fanconi-Bickel syndrome http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2. http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder http://purl.obolibrary.org/obo/DOID_630 genetic disease A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. http://purl.obolibrary.org/obo/DOID_0111672 primary hyperoxaluria type 3 http://purl.obolibrary.org/obo/DOID_2977 primary hyperoxaluria A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. http://purl.obolibrary.org/obo/DOID_0070563 glucose-galactose malabsorption http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3. http://purl.obolibrary.org/obo/DOID_656 adrenal adenoma http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. http://purl.obolibrary.org/obo/DOID_0111673 Saul-Wilson syndrome http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_657 adenoma http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. http://purl.obolibrary.org/obo/DOID_0060996 poor metabolism of thiopurines 2 http://purl.obolibrary.org/obo/DOID_0080172 poor metabolism of thiopurines A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_0070617 rhabdoid tumor predisposition syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children. http://purl.obolibrary.org/obo/DOID_0060998 striatal degeneration 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27. http://purl.obolibrary.org/obo/DOID_0051042 autosomal dominant distal hereditary motor neuronopathy 15 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_0111674 intellectual developmental disorder with short stature and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. http://purl.obolibrary.org/obo/DOID_66 muscle tissue disease http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A muscular disease located in the muscle tissue. http://purl.obolibrary.org/obo/DOID_0051043 Charcot-Marie-Tooth disease axonal type 2JJ http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_0051044 infantile-onset myofibrillar myopathy 12 with cardiomyopathy http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0111675 neurooculocardiogenitourinary syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. http://purl.obolibrary.org/obo/DOID_0111676 high molecular weight kininogen deficiency http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. http://purl.obolibrary.org/obo/DOID_6688 autoimmune lymphoproliferative syndrome http://purl.obolibrary.org/obo/DOID_2916 hypersensitivity reaction type IV disease A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. http://purl.obolibrary.org/obo/DOID_0051045 myofibrillar myopathy 13 with rimmed vacuoles http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_936 brain disease An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain. http://purl.obolibrary.org/obo/DOID_0111677 familial benign fleck retina http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. http://purl.obolibrary.org/obo/DOID_0051046 spondyloepimetaphyseal dysplasia, Li-Shao-Li type http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_672 spleen cancer http://purl.obolibrary.org/obo/DOID_2529 splenic disease A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. http://purl.obolibrary.org/obo/DOID_0111678 hereditary folate malabsorption http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. http://purl.obolibrary.org/obo/DOID_0051047 congenital disorder of glycosylation type IIbb http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_0051048 congenital disorder of glycosylation type IIr http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_674 cleft palate http://purl.obolibrary.org/obo/DOID_0050567 orofacial cleft An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. http://purl.obolibrary.org/obo/DOID_0111679 glutamate formiminotransferase deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_0051049 congenital disorder of glycosylation type IIt http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. http://purl.obolibrary.org/obo/DOID_679 basal ganglia disease http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits. http://purl.obolibrary.org/obo/DOID_0111680 essential fructosuria http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. http://purl.obolibrary.org/obo/DOID_0051050 congenital disorder of glycosylation type IIv http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_680 tauopathy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. http://purl.obolibrary.org/obo/DOID_0111681 congenital nonspherocytic hemolytic anemia 7 http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. http://purl.obolibrary.org/obo/DOID_0111682 cystic renal dysplasia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. http://purl.obolibrary.org/obo/DOID_0051051 congenital disorder of glycosylation type IIw http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_699 mitochondrial myopathy http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by mitochondrial dysfunction. http://purl.obolibrary.org/obo/DOID_0111683 neurofibromatosis-Noonan syndrome http://purl.obolibrary.org/obo/DOID_0080690 RASopathy A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. http://purl.obolibrary.org/obo/DOID_0111684 hereditary mixed polyposis syndrome http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated. http://purl.obolibrary.org/obo/DOID_0111685 hereditary mixed polyposis syndrome 1 http://purl.obolibrary.org/obo/DOID_0111684 hereditary mixed polyposis syndrome A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. http://purl.obolibrary.org/obo/DOID_0051052 congenital disorder of glycosylation type IIy http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity http://purl.obolibrary.org/obo/DOID_4 disease A disease that manifests in a defined anatomical structure. http://purl.obolibrary.org/obo/DOID_0111686 hereditary mixed polyposis syndrome 2 http://purl.obolibrary.org/obo/DOID_0111684 hereditary mixed polyposis syndrome A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. http://purl.obolibrary.org/obo/DOID_0051053 congenital disorder of glycosylation type IIz http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. http://purl.obolibrary.org/obo/DOID_0111687 Potocki-Shaffer syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_0051055 46,XY gonadal dysgenesis with minifascicular neuropathy http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). http://purl.obolibrary.org/obo/DOID_707 B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0060060 non-Hodgkin lymphoma A non-Hodgkin lymphoma that has_material_basis_in B cells. http://purl.obolibrary.org/obo/DOID_0111688 Ayme-Gripp syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. http://purl.obolibrary.org/obo/DOID_0061031 autosomal dominant intellectual developmental disorder 57 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_731 urinary system benign neoplasm http://purl.obolibrary.org/obo/DOID_18 urinary system disease An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. http://purl.obolibrary.org/obo/DOID_0061032 autosomal dominant intellectual developmental disorder 58 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy http://purl.obolibrary.org/obo/DOID_0050705 adolescence-adult electroclinical syndrome An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is located_in the urethra. http://purl.obolibrary.org/obo/DOID_0111690 familial adult myoclonic epilepsy 1 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. http://purl.obolibrary.org/obo/DOID_0061033 autosomal dominant intellectual developmental disorder 59 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that has_material_basis_in hematopoietic cells. http://purl.obolibrary.org/obo/DOID_0111691 familial adult myoclonic epilepsy 5 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. http://purl.obolibrary.org/obo/DOID_0061034 autosomal dominant intellectual developmental disorder 61 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_7427 anthrax disease http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. http://purl.obolibrary.org/obo/DOID_0111692 familial adult myoclonic epilepsy 2 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. http://purl.obolibrary.org/obo/DOID_0061035 autosomal dominant intellectual developmental disorder 62 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_7475 diverticulitis http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. http://purl.obolibrary.org/obo/DOID_0111693 familial adult myoclonic epilepsy 4 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. http://purl.obolibrary.org/obo/DOID_0061036 autosomal dominant intellectual developmental disorder 63 with macrocephaly http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_75 lymphatic system disease http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease that is located_in the lymphatic system. http://purl.obolibrary.org/obo/DOID_0111694 familial adult myoclonic epilepsy 7 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. http://purl.obolibrary.org/obo/DOID_0061037 autosomal dominant intellectual developmental disorder 64 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_7519 endocervical carcinoma http://purl.obolibrary.org/obo/DOID_2893 cervix carcinoma A cervix carcinoma that is located_in the endocervix. http://purl.obolibrary.org/obo/DOID_0111695 familial adult myoclonic epilepsy 3 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. http://purl.obolibrary.org/obo/DOID_0061038 autosomal dominant intellectual developmental disorder 65 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_7551 gonorrhea http://purl.obolibrary.org/obo/DOID_1962 fallopian tube disease A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. http://purl.obolibrary.org/obo/DOID_0111696 familial adult myoclonic epilepsy 6 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. http://purl.obolibrary.org/obo/DOID_0061039 autosomal dominant intellectual developmental disorder 66 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. http://purl.obolibrary.org/obo/CHEBI_172368 brominated flame retardant http://purl.obolibrary.org/obo/CHEBI_79314 flame retardant A flame retardant that is brominated flame retardant, contain bromine and are the most abundantly used flame retardants. Used in many consumer goods, including electronics, furniture, building materials, etc. and have been linked to endocrine disruption among other effects. http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is located_in the stomach. http://purl.obolibrary.org/obo/DOID_0061040 autosomal dominant intellectual developmental disorder 67 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33. http://purl.obolibrary.org/obo/CHEBI_172390 glycol ether http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A hydroxyether which contains both an ether and alcohol functional groups. It is one of the most versatile classes of organic solvents which are commonly used in paints, cleaners, adhesives, pharmaceuticals and cosmetics. http://purl.obolibrary.org/obo/DOID_769 neuroblastoma http://purl.obolibrary.org/obo/DOID_2621 autonomic nervous system neoplasm An autonomic nervous system neoplasm that derives_from immature nerve cells. http://purl.obolibrary.org/obo/DOID_0061041 autosomal dominant intellectual developmental disorder 68 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. http://purl.obolibrary.org/obo/CHEBI_172397 perfluoroalkyl substance http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor An endocrine disruptor that is perfluoroalkyl substance, used widely in industrial applications, such as firefighting foams and non-stick pan, paper, and textile coatings. http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in the gastrointestinal tract. http://purl.obolibrary.org/obo/DOID_0061042 autosomal dominant intellectual developmental disorder 69 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11. http://purl.obolibrary.org/obo/SYMP_0020044 hair shedding http://purl.obolibrary.org/obo/SYMP_0020040 hair symptom A hair symptom that is characterized by significant falling out of hair, which may be a result of stress, high fever, and other factors. http://purl.obolibrary.org/obo/DOID_780 placenta disease http://purl.obolibrary.org/obo/DOID_345 uterine disease A uterine disease that is located_in the placenta. http://purl.obolibrary.org/obo/DOID_0061043 autosomal dominant intellectual developmental disorder 70 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_7997 thyrotoxicosis http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease A thyroid gland disease that is characterized by excess thyroid hormone. http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease A thyroid gland disease that involves an over production of thyroid hormone. http://purl.obolibrary.org/obo/DOID_0061044 autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_811 lipodystrophy http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. http://purl.obolibrary.org/obo/DOID_0061045 autosomal dominant intellectual developmental disorder 72 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0081264 developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). http://purl.obolibrary.org/obo/DOID_8125 osteochondrosis http://purl.obolibrary.org/obo/DOID_0080008 ischemic bone disease An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. http://purl.obolibrary.org/obo/DOID_0061046 autosomal dominant intellectual developmental disorder 73 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_8200 tertiary syphilis http://purl.obolibrary.org/obo/DOID_4166 syphilis A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. http://purl.obolibrary.org/obo/DOID_824 periodontitis http://purl.obolibrary.org/obo/DOID_3388 periodontal disease A periodontal disease characterized by progressive destruction of the tooth-supporting apparatus including clinical attachment loss, alveolar bone loss, periodontal pocketing, and gingival bleeding, that is associated with inflammation and dysbiotic plaque biofilms. http://purl.obolibrary.org/obo/DOID_8283 peritonitis http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. http://purl.obolibrary.org/obo/DOID_0061047 autosomal dominant intellectual developmental disorder 74 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_0081266 complex cortical dysplasia with other brain malformations 15 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_8295 scabies http://purl.obolibrary.org/obo/DOID_7894 mite infestation A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. http://purl.obolibrary.org/obo/DOID_83 cataract http://purl.obolibrary.org/obo/DOID_110 lens disease A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. http://purl.obolibrary.org/obo/DOID_0061048 autosomal dominant intellectual developmental disorder 75 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the premature onset of age-related pathologies. http://purl.obolibrary.org/obo/DOID_841 extrinsic allergic alveolitis http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. http://purl.obolibrary.org/obo/DOID_8432 polycythemia http://purl.obolibrary.org/obo/DOID_4961 bone marrow disease A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. http://purl.obolibrary.org/obo/DOID_0061049 autosomal dominant intellectual developmental disorder type FRA12A http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_8469 influenza http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A (Alphainfluenzavirus), has_material_basis_in Influenzavirus B (Betainfluenzavirus), or has_material_basis_in Influenzavirus C (Gammainfluenzavirus), which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. http://purl.obolibrary.org/obo/DOID_0061050 autosomal dominant intellectual developmental disorder 60 with seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_848 arthritis http://purl.obolibrary.org/obo/DOID_3342 bone inflammation disease A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint. http://purl.obolibrary.org/obo/DOID_0061051 immunodeficiency 80 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13. http://purl.obolibrary.org/obo/DOID_8499 night blindness http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease that is characterized by difficulty or the inability to see in relatively low light. http://purl.obolibrary.org/obo/DOID_0060950 hypervalinemia and hyperleucine-isoleucinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0061052 immunodeficiency 81 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. http://purl.obolibrary.org/obo/DOID_850 lung disease http://purl.obolibrary.org/obo/DOID_0050161 lower respiratory tract disease A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. http://purl.obolibrary.org/obo/DOID_0060951 polycystic kidney disease 6 http://purl.obolibrary.org/obo/DOID_898 autosomal dominant polycystic kidney disease An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_0061053 immunodeficiency 82 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_8502 bullous skin disease http://purl.obolibrary.org/obo/DOID_2723 dermatitis A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. http://purl.obolibrary.org/obo/DOID_0061054 immunodeficiency 84 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. http://purl.obolibrary.org/obo/DOID_0060960 orofaciodigital syndrome XIX http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_8504 impetigo http://purl.obolibrary.org/obo/DOID_4223 pyoderma A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. http://purl.obolibrary.org/obo/DOID_0060961 orofaciodigital syndrome XVIII http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_8515 Cor pulmonale http://purl.obolibrary.org/obo/DOID_6000 congestive heart failure A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. http://purl.obolibrary.org/obo/DOID_0060962 orofaciodigital syndrome XX http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_0061055 immunodeficiency 85 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_854 collagen disease http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. http://purl.obolibrary.org/obo/DOID_0061056 immunodeficiency 86 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0060968 hypotrichosis 15 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_8552 chronic myeloid leukemia http://purl.obolibrary.org/obo/DOID_8692 myeloid leukemia A myeloid leukemia that is characterized by over production of white blood cells. http://purl.obolibrary.org/obo/DOID_0061057 immunodeficiency 87 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. http://purl.obolibrary.org/obo/DOID_0060970 Cornelia de Lange syndrome 6 http://purl.obolibrary.org/obo/DOID_11725 Cornelia de Lange syndrome A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_8618 oral cavity cancer http://purl.obolibrary.org/obo/DOID_403 mouth disease A gastrointestinal system cancer that is located_in the oral cavity. http://purl.obolibrary.org/obo/DOID_0061058 immunodeficiency 88 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0070545 developmental and epileptic encephalopathy 116 http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/DOID_8619 recurrent hypersomnia http://purl.obolibrary.org/obo/DOID_535 sleep disorder A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. http://purl.obolibrary.org/obo/DOID_0061059 immunodeficiency 89 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0060973 WHIM syndrome 2 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_863 nervous system disease http://purl.obolibrary.org/obo/DOID_7 disease of anatomical entity A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_0061060 immunodeficiency 90 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0061170 autoinflammation, panniculitis, and dermatosis syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by neonatal or infantile onset of systemic inflammation, fever, panniculitis, aseptic skin lesions, leukocytosis, neutrophilia, and elevated inflammatory markers, including C-reactive protein, with no overt primary immunodeficiency that has_material_basis_in mutation in the OTULIN gene on chromosome 5p15, that encodes a deubiquitinase with linear linkage specificity. http://purl.obolibrary.org/obo/DOID_865 vasculitis http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is characterized by inflammation of the blood vessels. http://purl.obolibrary.org/obo/DOID_0061061 immunodeficiency 91 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0061153 monilethrix 3 http://purl.obolibrary.org/obo/DOID_0050472 monilethrix A hair disease that is characterized by periodic narrowing ('beading') along the hair shaft visible on microscopy and that has_material_basis_in heterozygous mutation in the KRT83 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_866 vein disease http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease that is located_in a vein. http://purl.obolibrary.org/obo/DOID_0061062 immunodeficiency 92 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16. http://purl.obolibrary.org/obo/TRANS_0000018 placental transmission http://purl.obolibrary.org/obo/TRANS_0000006 congenital transmission Placental transmission is a congenital transmission process during which the pathogen is transmitted directly from mother to child across the placental barrier. http://purl.obolibrary.org/obo/DOID_0060034 dropped head syndrome http://purl.obolibrary.org/obo/DOID_0060564 spinal disease A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. http://purl.obolibrary.org/obo/DOID_8670 eating disorder http://purl.obolibrary.org/obo/DOID_150 disease of mental health A disease of mental health that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. http://purl.obolibrary.org/obo/DOID_0061063 immunodeficiency 93 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_869 cholesteatoma http://purl.obolibrary.org/obo/DOID_161 keratosis A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. http://purl.obolibrary.org/obo/DOID_0080930 primary localized cutaneous amyloidosis 1 http://purl.obolibrary.org/obo/DOID_0050639 primary cutaneous amyloidosis A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. http://purl.obolibrary.org/obo/DOID_0061064 immunodeficiency 94 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. http://purl.obolibrary.org/obo/DOID_0061065 immunodeficiency 95 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_0061066 immunodeficiency 96 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0061067 immunodeficiency 97 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_0061068 immunodeficiency 98 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_870 neuropathy http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease A nervous system disease that is located_in nerves or nerve cells. http://purl.obolibrary.org/obo/SYMP_0020061 outlet dysfunction constipation http://purl.obolibrary.org/obo/SYMP_0019180 constipation A constipation that is characterized by difficulty passing bowel movements after they reach the rectum. One experiences difficulty evacuating the stool and often has to strain or press the fingers into the vagina or in front of or into the rectum to help remove the stool. Outlet dysfunction can be caused by inappropriate or abnormal muscle contraction of the pelvic floor (called pelvic floor dyssynergia or dyssynergic defecation) which can respond to biofeedback. It may also be due to a rectocele or other structural changes in the pelvic floor that will require medical or at times, surgical treatment. http://purl.obolibrary.org/obo/DOID_0061069 immunodeficiency 99 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. http://purl.obolibrary.org/obo/SYMP_0020062 soft tissue necrosis http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom A musculoskeletal system symptom that is characterized by necrosis (i.e. tissue death) of soft tissue, including muscle, fat, blood vessels, nerves, tendons, and tissues that surround the bones and joints. http://purl.obolibrary.org/obo/DOID_0070405 hypomyelinating leukodystrophy 16 http://purl.obolibrary.org/obo/DOID_0060786 hypomyelinating leukodystrophy A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. http://purl.obolibrary.org/obo/DOID_0070465 autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. http://purl.obolibrary.org/obo/DOID_8719 in situ carcinoma http://purl.obolibrary.org/obo/DOID_0060071 pre-malignant neoplasm A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. http://purl.obolibrary.org/obo/DOID_8736 smallpox http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk. http://purl.obolibrary.org/obo/DOID_0061070 immunodeficiency 100 http://purl.obolibrary.org/obo/DOID_850 lung disease A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0070468 Yoon-Bellen neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. http://purl.obolibrary.org/obo/DOID_874 bacterial pneumonia http://purl.obolibrary.org/obo/DOID_552 pneumonia A pneumonia involving inflammation of the lungs caused by bacteria. http://purl.obolibrary.org/obo/DOID_0061071 immunodeficiency 101 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_0061072 immunodeficiency 102 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/DOID_8778 Crohn's disease http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An intestinal disease that involves inflammation located_in intestine. http://purl.obolibrary.org/obo/DOID_0070471 early-onset epilepsy 2 http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0061073 Perrault syndrome 7 http://purl.obolibrary.org/obo/DOID_0050857 Perrault syndrome A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_8791 breast carcinoma in situ http://purl.obolibrary.org/obo/DOID_8719 in situ carcinoma An in situ carcinoma that is located_in the breast. http://purl.obolibrary.org/obo/DOID_0070472 early-onset epilepsy 3 http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0061074 severe combined immunodeficiency 105 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_0061075 immunodeficiency 106 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0061076 immunodeficiency 107 http://purl.obolibrary.org/obo/DOID_850 lung disease A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_883 parasitic helminthiasis infectious disease http://purl.obolibrary.org/obo/DOID_1398 parasitic infectious disease A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. http://purl.obolibrary.org/obo/DOID_0070517 retinal macular dystrophy 2 http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. http://purl.obolibrary.org/obo/DOID_0061077 immunodeficiency 108 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_8849 sublingual gland cancer http://purl.obolibrary.org/obo/DOID_8850 salivary gland cancer A salivary gland cancer that is located_in the sublingual gland. http://purl.obolibrary.org/obo/DOID_0081421 familial focal epilepsy with variable foci 1 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_0061078 immunodeficiency 109 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_8850 salivary gland cancer http://purl.obolibrary.org/obo/DOID_8618 oral cavity cancer An oral cavity cancer that is located_in the salivary gland. http://purl.obolibrary.org/obo/DOID_0060976 polycystic liver disease 3 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14. http://purl.obolibrary.org/obo/TRANS_0000015 biologic transmission http://purl.obolibrary.org/obo/TRANS_0000005 vector-borne transmission Biological transmission is an indirect vector-borne transmission process during which the pathogen is transported, from a reservoir, source or host to another host, within the vector and undergoes part of its lifecycle in the vector. http://purl.obolibrary.org/obo/SYMP_0000846 chest hyperemia http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom Hyperemia of the chest is a cardiovascular system symptom consisting of an excess of blood in the tissues of the chest as from an increased flow of blood due to vasodilation. http://purl.obolibrary.org/obo/DOID_0061079 immunodeficiency 112 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0061080 immunodeficiency 114 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0061081 immunodeficiency 115 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_0061082 immunodeficiency 116 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12. http://purl.obolibrary.org/obo/DOID_8857 lupus erythematosus http://purl.obolibrary.org/obo/DOID_0060032 autoimmune disease of musculoskeletal system An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. http://purl.obolibrary.org/obo/DOID_8864 acute monocytic leukemia http://purl.obolibrary.org/obo/DOID_8527 monocytic leukemia A monocytic leukemia where the majority of monocytic cells are promonocytes. http://purl.obolibrary.org/obo/DOID_8913 dermatophytosis http://purl.obolibrary.org/obo/DOID_0050134 cutaneous mycosis A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. Subtypes are classified by the location on the body. http://purl.obolibrary.org/obo/SYMP_0000715 skin desquamation http://purl.obolibrary.org/obo/SYMP_0020048 skin peeling A skin and integumentary tissue symptom that is characterized by the peeling off of skin in the form of scales. http://purl.obolibrary.org/obo/DOID_0061083 immunodeficiency 117 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0061084 immunodeficiency 118 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_0061085 immunodeficiency 119 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. http://purl.obolibrary.org/obo/DOID_0061086 immunodeficiency 120 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_8923 skin melanoma http://purl.obolibrary.org/obo/DOID_4159 skin cancer A skin cancer that has_material_basis_in melanocytes. http://purl.obolibrary.org/obo/SYMP_0000424 claudication http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a leg pain in the calf, or thigh, which is caused by inadequate blood flow to the leg muscles and is brought on by leg exercise such as walking. http://purl.obolibrary.org/obo/DOID_0061087 immunodeficiency 121 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_8927 learning disability http://purl.obolibrary.org/obo/DOID_0060038 specific developmental disorder A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. http://purl.obolibrary.org/obo/SYMP_0000595 febrile convulsion http://purl.obolibrary.org/obo/SYMP_0000596 convulsion A convulsion that is characterized by occurring in young children between six months and five years of age and which is triggered by fever. http://purl.obolibrary.org/obo/DOID_0061088 immunodeficiency 122 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_8955 sideroblastic anemia http://purl.obolibrary.org/obo/DOID_11252 microcytic anemia A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). http://purl.obolibrary.org/obo/SYMP_0000605 coma http://purl.obolibrary.org/obo/SYMP_0000482 alteration of consciousness An alteration of consciousness that is characterized by a deep state of prolonged unconsciousness in which a person cannot be awakened, fails to respond normally to painful stimuli, light, or sound, lacks a normal wake-sleep cycle and does not initiate voluntary actions. http://purl.obolibrary.org/obo/DOID_0061089 immunodeficiency 123 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. http://purl.obolibrary.org/obo/SYMP_0019151 pulmonary edema http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an abnormal accumulation of fluid in the lungs. http://purl.obolibrary.org/obo/DOID_0061090 severe combined immunodeficiency 124 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_898 autosomal dominant polycystic kidney disease http://purl.obolibrary.org/obo/DOID_0080322 polycystic kidney disease A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. http://purl.obolibrary.org/obo/SYMP_0019176 malaise http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by an indefinite feeling of debility or lack of health, often indicative of or accompanying the onset of an illness. http://purl.obolibrary.org/obo/DOID_0061091 immunodeficiency 125 http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0061092 immunodeficiency 127 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0061093 immunodeficiency 128 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_0061094 immunodeficiency 129 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14. http://purl.obolibrary.org/obo/DOID_9036 parotid gland cancer http://purl.obolibrary.org/obo/DOID_8850 salivary gland cancer A salivary gland cancer that is located_in the parotid gland. http://purl.obolibrary.org/obo/SYMP_0000822 chronic enteritis http://purl.obolibrary.org/obo/SYMP_0000039 enteritis Chronic enteritis is a enteritis with slow progress, long duration, or frequent recurrence which can be due to Crohn's disease, giardiasis, tuberculosis, coeliac disease, or rarely due to Whipple's disease. http://purl.obolibrary.org/obo/SYMP_0000361 progressive emaciation http://purl.obolibrary.org/obo/SYMP_0000360 emaciation An emaciation that is characterized by an increase in scope or severity with time. http://purl.obolibrary.org/obo/DOID_0061096 immunodeficiency 133 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that involves peroxisome malfunction. http://purl.obolibrary.org/obo/DOID_9113 granuloma inguinale http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia http://purl.obolibrary.org/obo/DOID_8692 myeloid leukemia A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. http://purl.obolibrary.org/obo/DOID_9120 amyloidosis http://purl.obolibrary.org/obo/DOID_0014667 disease of metabolism A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. http://purl.obolibrary.org/obo/DOID_913 atrophic muscular disease http://purl.obolibrary.org/obo/DOID_440 neuromuscular disease A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. http://purl.obolibrary.org/obo/DOID_9182 pemphigus http://purl.obolibrary.org/obo/DOID_8502 bullous skin disease An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured. http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. http://purl.obolibrary.org/obo/SYMP_0000560 polydipsia http://purl.obolibrary.org/obo/SYMP_0000473 nutrition, metabolism, and development symptom A nutrition, metabolism, and development symptom that is characterized by an excessive or abnormal thirst. http://purl.obolibrary.org/obo/DOID_0061097 immunodeficiency 132B http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_9256 colorectal cancer http://purl.obolibrary.org/obo/DOID_5672 large intestine cancer A large intestine cancer that is located_in the colon and/or located_in the rectum. http://purl.obolibrary.org/obo/TRANS_0000019 arthropod borne transmission http://purl.obolibrary.org/obo/TRANS_0000005 vector-borne transmission Arthropod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary arthropod vector to another host. http://purl.obolibrary.org/obo/DOID_0061098 Carpenter syndrome 1 http://purl.obolibrary.org/obo/DOID_0060234 Carpenter syndrome A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11. http://purl.obolibrary.org/obo/DOID_9265 histidine metabolism disease http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that involves deficiency in histidine. http://purl.obolibrary.org/obo/SYMP_0000569 oliguria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the reduced excretion of urine. http://purl.obolibrary.org/obo/DOID_0061099 Carpenter syndrome 2 http://purl.obolibrary.org/obo/DOID_0060234 Carpenter syndrome A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly http://purl.obolibrary.org/obo/DOID_0070297 primary microcephaly A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation. http://purl.obolibrary.org/obo/DOID_9275 tyrosinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. http://purl.obolibrary.org/obo/SYMP_0000367 proteinuria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom characterized by the presence of excess protein in the urine. http://purl.obolibrary.org/obo/DOID_0061101 immunodeficiency 132A http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_9283 borderline glaucoma http://purl.obolibrary.org/obo/DOID_1686 glaucoma A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. http://purl.obolibrary.org/obo/DOID_0060911 karyomegalic interstitial nephritis http://purl.obolibrary.org/obo/DOID_1063 interstitial nephritis An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. http://purl.obolibrary.org/obo/DOID_0061102 hypertrophic cardiomyopathy 27 http://purl.obolibrary.org/obo/DOID_0080326 familial hypertrophic cardiomyopathy A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. http://purl.obolibrary.org/obo/DOID_9297 lip disease http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease located_in the lip. http://purl.obolibrary.org/obo/DOID_0090100 ocular albinism with sensorineural deafness http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. http://purl.obolibrary.org/obo/DOID_0061169 autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome http://purl.obolibrary.org/obo/DOID_0061170 autoinflammation, panniculitis, and dermatosis syndrome An autoinflammation, panniculitis, and dermatosis syndrome characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing that has_material_basis_in heterozygous dominant-negative mutation in the OTULIN gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_93 language disorder http://purl.obolibrary.org/obo/DOID_2033 communication disorder A communication disorder that involves the processing of linguistic information. http://purl.obolibrary.org/obo/DOID_0090101 lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. http://purl.obolibrary.org/obo/TRANS_0000013 vehicle-borne medical transmission http://purl.obolibrary.org/obo/TRANS_0000010 vehicle-borne transmission Vehicle-borne medical transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by biological products including: blood, serum, plasma, tissue, or organs. http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_0080001 bone disease An adnexa disease that is located_in the eye socket. http://purl.obolibrary.org/obo/DOID_0090102 autosomal dominant isolated macrothrombocytopenia 1 http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. http://purl.obolibrary.org/obo/SYMP_0000413 catatonia http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a marked psychomotor disturbance that may involve stupor or mutism, negativism, rigidity, purposeless excitement, echolalia, echopraxia, and inappropriate or bizarre posturing and is associated with various medical conditions (as schizophrenia and mood disorders). http://purl.obolibrary.org/obo/DOID_934 viral infectious disease http://purl.obolibrary.org/obo/DOID_0050117 disease by infectious agent A disease by infectious agent that results in infection, has_material_basis_in Viruses. http://purl.obolibrary.org/obo/DOID_0090103 Huntington's disease-like 1 http://purl.obolibrary.org/obo/DOID_649 prion disease A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. http://purl.obolibrary.org/obo/SYMP_0000606 nocturnal enuresis http://purl.obolibrary.org/obo/SYMP_0000492 urinary incontinence A urinary incontinence that is characterized by involuntary urination at night in children five years of age or older. http://purl.obolibrary.org/obo/DOID_9351 diabetes mellitus http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. http://purl.obolibrary.org/obo/SYMP_0000508 aphasia http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by a loss or impairment of the power to use or comprehend words usually resulting from brain damage. http://purl.obolibrary.org/obo/DOID_0090104 Huntington's disease-like 2 http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_9352 type 2 diabetes mellitus http://purl.obolibrary.org/obo/DOID_9351 diabetes mellitus A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. http://purl.obolibrary.org/obo/DOID_0090105 autosomal recessive hypercholesterolemia http://purl.obolibrary.org/obo/DOID_13810 familial hypercholesterolemia A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. http://purl.obolibrary.org/obo/SYMP_0000374 scrotal abscess http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by an abscess that is either superficial or intrascrotal. Superficial scrotal abscess may occur from an infected hair follicle, infection of a scrotal laceration, or minor scrotal surgery. Intrascrotal abscess most commonly arises from bacterial epididymitis, but may also be related to tuberculous infection of the epididymis, a testicular abscess that ruptures through the tunica albuginea, or drainage of appendicitis into scrotum through a patent processus vaginalis or as a result of extravasation of infected urine from the urethra in patients with a urethral stricture and neurogenic bladder using an external collection device. http://purl.obolibrary.org/obo/DOID_936 brain disease http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is located_in the brain. http://purl.obolibrary.org/obo/DOID_0090106 BH4-deficient hyperphenylalaninemia A http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. http://purl.obolibrary.org/obo/SYMP_0000423 pyrosis http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom From synonym: Heartburn is a pain characterized by a painful burning feeling in your chest or throat that happens when stomach acid backs up into your esophagus. http://purl.obolibrary.org/obo/DOID_9406 hypopituitarism http://purl.obolibrary.org/obo/DOID_53 pituitary gland disease A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. http://purl.obolibrary.org/obo/DOID_0090107 autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/DOID_0090109 autosomal dominant hypocalcemia An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. http://purl.obolibrary.org/obo/SYMP_0000214 anomia http://purl.obolibrary.org/obo/SYMP_0000508 aphasia An aphasia that is characterized by a severe problem with recalling words or names. http://purl.obolibrary.org/obo/DOID_9409 diabetes insipidus http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration. http://purl.obolibrary.org/obo/DOID_9423 blepharitis http://purl.obolibrary.org/obo/DOID_530 eyelid disease An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. http://purl.obolibrary.org/obo/DOID_0090108 autosomal dominant hypocalcemia 2 http://purl.obolibrary.org/obo/DOID_0090109 autosomal dominant hypocalcemia An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. http://purl.obolibrary.org/obo/SYMP_0000857 objective vertigo http://purl.obolibrary.org/obo/SYMP_0000399 vertigo A vertigo that is characterized by a sensation that the external world is revolving. http://purl.obolibrary.org/obo/DOID_0080173 bladder exstrophy-epispadias-cloacal exstrophy complex http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. http://purl.obolibrary.org/obo/DOID_9428 intracranial hypertension http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema. http://purl.obolibrary.org/obo/DOID_0090109 autosomal dominant hypocalcemia http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/DOID_4138 bile duct disease A bile duct disease that is an inflammation of the bile duct. http://purl.obolibrary.org/obo/DOID_0110657 congenital myasthenic syndrome 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. http://purl.obolibrary.org/obo/DOID_0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. http://purl.obolibrary.org/obo/DOID_0110658 congenital myasthenic syndrome 15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0090111 PCWH syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_9460 uterine corpus cancer http://purl.obolibrary.org/obo/DOID_363 uterine cancer A uterine cancer that is located_in the uterine corpus. http://purl.obolibrary.org/obo/DOID_0110659 congenital myasthenic syndrome 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0090112 Nasu-Hakola disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0090113 RIDDLE syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_9463 otitis externa http://purl.obolibrary.org/obo/DOID_379 external ear disease An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections. http://purl.obolibrary.org/obo/DOID_0110660 congenital myasthenic syndrome 12 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0090114 Sorsby's fundus dystrophy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis http://purl.obolibrary.org/obo/DOID_9471 meningitis A meningitis that has_material_basis_in a bacterial infection. http://purl.obolibrary.org/obo/DOID_0110661 congenital myasthenic syndrome 20 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. http://purl.obolibrary.org/obo/DOID_0090115 spinocerebellar ataxia with axonal neuropathy 1 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. http://purl.obolibrary.org/obo/DOID_9471 meningitis http://purl.obolibrary.org/obo/DOID_331 central nervous system disease A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. http://purl.obolibrary.org/obo/DOID_0110662 congenital myasthenic syndrome 1B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. http://purl.obolibrary.org/obo/DOID_0090116 spondylocarpotarsal synostosis syndrome http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. http://purl.obolibrary.org/obo/DOID_9500 leukocyte disease http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease A hematopoietic system disease that is located_in white blood cells. http://purl.obolibrary.org/obo/DOID_0110663 congenital myasthenic syndrome 1A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. http://purl.obolibrary.org/obo/DOID_0090117 thiamine-responsive megaloblastic anemia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. http://purl.obolibrary.org/obo/DOID_0090118 congenital amegakaryocytic thrombocytopenia http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers. http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease that is located_in the adrenal gland. http://purl.obolibrary.org/obo/DOID_0110664 congenital myasthenic syndrome 3C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia http://purl.obolibrary.org/obo/DOID_0060340 ciliopathy A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. http://purl.obolibrary.org/obo/DOID_0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_0110665 congenital myasthenic syndrome 3B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0110666 congenital myasthenic syndrome 3A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_9588 encephalitis http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. http://purl.obolibrary.org/obo/DOID_0090120 hereditary neutrophilia http://purl.obolibrary.org/obo/DOID_9500 leukocyte disease A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0110668 congenital myasthenic syndrome 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0110669 congenital myasthenic syndrome 14 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_9590 lower urinary tract calculus http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. http://purl.obolibrary.org/obo/DOID_963 episodic ataxia http://purl.obolibrary.org/obo/DOID_0050951 hereditary ataxia A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. http://purl.obolibrary.org/obo/DOID_0090122 aromatase excess syndrome http://purl.obolibrary.org/obo/DOID_15 reproductive system disease A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. http://purl.obolibrary.org/obo/DOID_0090123 aromatic L-amino acid decarboxylase deficiency http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. http://purl.obolibrary.org/obo/DOID_0110670 congenital myasthenic syndrome 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. http://purl.obolibrary.org/obo/DOID_9637 stomatitis http://purl.obolibrary.org/obo/DOID_9297 lip disease A mouth disease that is characterized by inflammation of the mouth and lips. http://purl.obolibrary.org/obo/DOID_0090124 neurogenic-type arthrogryposis multiplex congenita-2 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. http://purl.obolibrary.org/obo/DOID_0110671 congenital myasthenic syndrome 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. http://purl.obolibrary.org/obo/DOID_9669 senile cataract http://purl.obolibrary.org/obo/DOID_83 cataract A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging. http://purl.obolibrary.org/obo/DOID_0090125 brain small vessel disease 1 http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_0110672 congenital myasthenic syndrome 21 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. http://purl.obolibrary.org/obo/DOID_0110673 congenital myasthenic syndrome 19 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0090126 branched-chain keto acid dehydrogenase kinase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_0110674 congenital myasthenic syndrome 17 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_9675 pulmonary emphysema http://purl.obolibrary.org/obo/DOID_3083 chronic obstructive pulmonary disease A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls. http://purl.obolibrary.org/obo/DOID_0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_0110675 congenital myasthenic syndrome 11 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0090128 Carvajal syndrome http://purl.obolibrary.org/obo/DOID_0080551 Naxos disease A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. http://purl.obolibrary.org/obo/DOID_970 tenosynovitis http://purl.obolibrary.org/obo/DOID_971 tendinitis An arthropathy that is characterized as an inflammation of the lining of the sheath that surrounds a tendon. http://purl.obolibrary.org/obo/DOID_0110676 congenital myasthenic syndrome 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_0110677 congenital myasthenic syndrome 4B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0090129 carnitine palmitoyltransferase I deficiency http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_9720 vitreous disease http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye and adnexa disease that is located in the vitreous of the eye. http://purl.obolibrary.org/obo/DOID_0110678 congenital myasthenic syndrome 4A http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0090130 cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. http://purl.obolibrary.org/obo/DOID_9739 eustachian tube disease http://purl.obolibrary.org/obo/DOID_11180 non-suppurative otitis media A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be caused by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. http://purl.obolibrary.org/obo/DOID_0110679 congenital myasthenic syndrome 4C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations. http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/DOID_1579 respiratory system disease A respiratory system disease which involves the upper respiratory tract. http://purl.obolibrary.org/obo/DOID_0110680 congenital myasthenic syndrome 2C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0090132 complex cortical dysplasia with other brain malformations 7 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. http://purl.obolibrary.org/obo/DOID_9741 biliary tract disease http://purl.obolibrary.org/obo/DOID_3118 hepatobiliary disease A hepatobiliary disease that is located_in the biliary tract. http://purl.obolibrary.org/obo/DOID_0110681 congenital myasthenic syndrome 2A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0090133 complex cortical dysplasia with other brain malformations 2 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23. http://purl.obolibrary.org/obo/DOID_9742 pelvic varices http://purl.obolibrary.org/obo/DOID_799 varicose veins A varicose veins that is located_in the pelvis. http://purl.obolibrary.org/obo/DOID_0110682 congenital myasthenic syndrome 16 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0110683 developmental and epileptic encephalopathy 117 http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A developmental and epileptic encephalopathy that is characterized by global developmental delay, hypotonia, delayed walking or inability to walk, and variably impaired intellectual development with poor or absent speech and that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_0110698 hypotrichosis 1 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22. http://purl.obolibrary.org/obo/DOID_0090134 complex cortical dysplasia with other brain malformations 3 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12. http://purl.obolibrary.org/obo/DOID_9744 type 1 diabetes mellitus http://purl.obolibrary.org/obo/DOID_9351 diabetes mellitus A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. http://purl.obolibrary.org/obo/DOID_0110699 hypotrichosis 2 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_0090135 complex cortical dysplasia with other brain malformations 5 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. http://purl.obolibrary.org/obo/DOID_9809 hypersensitivity vasculitis http://purl.obolibrary.org/obo/DOID_1557 hypersensitivity reaction type III disease A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers. http://purl.obolibrary.org/obo/DOID_0110700 hypotrichosis 3 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0090136 complex cortical dysplasia with other brain malformations 6 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_9840 esotropia http://purl.obolibrary.org/obo/DOID_540 strabismus A strabismus that is characterized the eye which turns inward toward the nose. http://purl.obolibrary.org/obo/DOID_9847 peripheral vertigo http://purl.obolibrary.org/obo/DOID_3426 vestibular disease A vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance. http://purl.obolibrary.org/obo/DOID_0110701 hypotrichosis 4 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. http://purl.obolibrary.org/obo/DOID_0090137 complex cortical dysplasia with other brain malformations 1 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. http://purl.obolibrary.org/obo/DOID_9849 Meniere's disease http://purl.obolibrary.org/obo/DOID_9848 endolymphatic hydrops A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. http://purl.obolibrary.org/obo/DOID_9856 congenital syphilis http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A syphilis that results_in a multisystem infection in the fetus via the placenta. http://purl.obolibrary.org/obo/DOID_0110702 hypotrichosis 5 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. http://purl.obolibrary.org/obo/DOID_0090138 complex cortical dysplasia with other brain malformations 4 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_9857 interstitial keratitis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation. http://purl.obolibrary.org/obo/DOID_0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. http://purl.obolibrary.org/obo/DOID_0090139 cortisone reductase deficiency http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. http://purl.obolibrary.org/obo/DOID_0110704 hypotrichosis 7 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. http://purl.obolibrary.org/obo/DOID_986 alopecia areata http://purl.obolibrary.org/obo/DOID_0060039 autoimmune disease of skin and connective tissue An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. http://purl.obolibrary.org/obo/DOID_987 alopecia http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that is characterized by a loss of hair from the head or body. http://purl.obolibrary.org/obo/DOID_9870 galactosemia http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy is characterized by progressive skeletal muscle weakness degeneration. http://purl.obolibrary.org/obo/DOID_0090140 cortisone reductase deficiency 2 http://purl.obolibrary.org/obo/DOID_0090139 cortisone reductase deficiency A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0090141 cortisone reductase deficiency 1 http://purl.obolibrary.org/obo/DOID_0090139 cortisone reductase deficiency A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0110705 hypotrichosis 8 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2. http://purl.obolibrary.org/obo/DOID_9938 dacryocystitis http://purl.obolibrary.org/obo/DOID_6970 acute inflammation of lacrimal passage An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge. http://purl.obolibrary.org/obo/DOID_0090142 cystathioninuria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_0110706 hypotrichosis 9 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. http://purl.obolibrary.org/obo/DOID_0110707 hypotrichosis 10 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. http://purl.obolibrary.org/obo/DOID_0110708 hypotrichosis 11 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1. http://purl.obolibrary.org/obo/DOID_9952 acute lymphoblastic leukemia http://purl.obolibrary.org/obo/DOID_12603 acute leukemia A acute leukemia that is characterized by over production of lymphoblasts. http://purl.obolibrary.org/obo/DOID_0090143 brachyolmia-amelogenesis imperfecta syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0110709 hypotrichosis 12 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2. http://purl.obolibrary.org/obo/DOID_9957 periostitis http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by inflammation located_in the periosteum of the bone. http://purl.obolibrary.org/obo/DOID_0090144 Donnai-Barrow syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0090145 dopamine beta-hydroxylase deficiency http://purl.obolibrary.org/obo/DOID_863 nervous system disease An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0110710 hypotrichosis 13 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_9965 toxoplasmosis http://purl.obolibrary.org/obo/DOID_2113 coccidiosis A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. http://purl.obolibrary.org/obo/DOID_0070005 Seckel syndrome 9 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0110711 congenital hypotrichosis with juvenile macular dystrophy http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_9970 obesity http://purl.obolibrary.org/obo/DOID_654 overnutrition An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. http://purl.obolibrary.org/obo/DOID_0070006 Seckel syndrome 6 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. http://purl.obolibrary.org/obo/DOID_0110714 congenital stationary night blindness 1G http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_9973 substance dependence http://purl.obolibrary.org/obo/DOID_303 substance-related disorder A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. http://purl.obolibrary.org/obo/DOID_0070007 Seckel syndrome 1 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_0110715 congenital stationary night blindness autosomal dominant 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_9988 tertiary neurosyphilis http://purl.obolibrary.org/obo/DOID_936 brain disease A tertiary syphilis that results in infection located in brain or located in spinal cord. http://purl.obolibrary.org/obo/SYMP_0019152 diaphoresis http://purl.obolibrary.org/obo/SYMP_0019175 sweaty A sweat that is characterized by excessive sweating commonly associated with shock and other medical emergency conditions. http://purl.obolibrary.org/obo/DOID_0070008 Seckel syndrome 10 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_0110862 congenital stationary night blindness autosomal dominant 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. http://purl.obolibrary.org/obo/DOID_0070009 Seckel syndrome 8 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. http://purl.obolibrary.org/obo/ExO_0000007 ecological perturbation http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver An exposure stressor that is a change in the distributions, abundance and relations of organisms and their interactions with the environment. http://purl.obolibrary.org/obo/DOID_0110863 congenital stationary night blindness autosomal dominant 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0110864 congenital stationary night blindness 1F http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. http://purl.obolibrary.org/obo/DOID_0110865 congenital stationary night blindness 1B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0110866 congenital stationary night blindness 1H http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0110867 congenital stationary night blindness 1C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. http://purl.obolibrary.org/obo/DOID_0070010 Seckel syndrome 4 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. http://purl.obolibrary.org/obo/ExO_0000015 poverty http://purl.obolibrary.org/obo/DISDRIV_0000002 socioeconomic driver A psychosocial agent that is a situation in which the level of living of an individual, family, or group is below the standard of the community. It is often related to a specific income level. http://purl.obolibrary.org/obo/DOID_0110868 congenital stationary night blindness 1D http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22. http://purl.obolibrary.org/obo/DOID_0070011 Seckel syndrome 7 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. http://purl.obolibrary.org/obo/NCIT_C28266 Mold http://purl.obolibrary.org/obo/NCIT_C14329 Microorganism A very large group of microscopic fungi that live on plant or animal matter. Most are filamentous organisms and produce spores that can be air-, water-, or insect-borne. http://purl.obolibrary.org/obo/DOID_0110869 congenital stationary night blindness 1E http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0070012 Seckel syndrome 5 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay http://purl.obolibrary.org/obo/DOID_8955 sideroblastic anemia A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. http://purl.obolibrary.org/obo/DOID_0110870 congenital stationary night blindness 1A http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_0070013 Seckel syndrome 2 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. http://purl.obolibrary.org/obo/DOID_0080544 hyper IgM syndrome http://purl.obolibrary.org/obo/DOID_2959 hyperimmunoglobulin syndrome A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. http://purl.obolibrary.org/obo/DOID_0070014 autosomal dominant dyskeratosis congenita 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. http://purl.obolibrary.org/obo/DOID_0110871 congenital stationary night blindness 2A http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0080545 hyper IgE syndrome http://purl.obolibrary.org/obo/DOID_2959 hyperimmunoglobulin syndrome A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. http://purl.obolibrary.org/obo/DOID_0070015 autosomal recessive dyskeratosis congenita 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_0110872 holoprosencephaly 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. http://purl.obolibrary.org/obo/DOID_0111357 adermatoglyphia http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3. http://purl.obolibrary.org/obo/DOID_0070016 autosomal dominant dyskeratosis congenita 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_0110873 holoprosencephaly 9 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. http://purl.obolibrary.org/obo/DOID_0111358 Floating-Harbor syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0110874 holoprosencephaly 6 http://purl.obolibrary.org/obo/DOID_4621 holoprosencephaly A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. http://purl.obolibrary.org/obo/DOID_0110875 holoprosencephaly 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_0070017 autosomal recessive dyskeratosis congenita 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. http://purl.obolibrary.org/obo/DOID_0111359 large congenital melanocytic nevus http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_0110876 holoprosencephaly 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0070018 autosomal dominant dyskeratosis congenita 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/DOID_0110877 holoprosencephaly 11 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. http://purl.obolibrary.org/obo/DOID_0070019 autosomal recessive dyskeratosis congenita 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0111361 hypotrichosis-lymphedema-telangiectasia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/DOID_0110878 holoprosencephaly 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_0070020 autosomal dominant dyskeratosis congenita 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/DOID_0111362 hawkinsinuria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0110879 holoprosencephaly 8 http://purl.obolibrary.org/obo/DOID_4621 holoprosencephaly A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. http://purl.obolibrary.org/obo/DOID_0070021 autosomal recessive dyskeratosis congenita 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_0111363 Heinz body anemia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively. http://purl.obolibrary.org/obo/DOID_0110880 holoprosencephaly 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_0070022 autosomal recessive dyskeratosis congenita 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/DOID_0111364 Alzheimer's disease 9 http://purl.obolibrary.org/obo/DOID_10652 Alzheimer's disease An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0110881 holoprosencephaly 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. http://purl.obolibrary.org/obo/DOID_0070023 autosomal dominant dyskeratosis congenita 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0111365 benign familial hematuria http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3. http://purl.obolibrary.org/obo/DOID_0110882 inflammatory bowel disease 7 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. http://purl.obolibrary.org/obo/DOID_0070024 autosomal recessive dyskeratosis congenita 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. http://purl.obolibrary.org/obo/DOID_0070025 X-linked dyskeratosis congenita http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0111366 familial hepatic adenoma http://purl.obolibrary.org/obo/DOID_0050868 hepatocellular adenoma A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0110883 inflammatory bowel disease 17 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. http://purl.obolibrary.org/obo/DOID_0070026 Revesz syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_0111367 Beukes hip dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. http://purl.obolibrary.org/obo/DOID_0110884 inflammatory bowel disease 23 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. http://purl.obolibrary.org/obo/DOID_0070027 CST3-related cerebral amyloid angiopathy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. http://purl.obolibrary.org/obo/DOID_0070028 APP-related cerebral amyloid angiopathy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. http://purl.obolibrary.org/obo/DOID_0111368 cholesterol-ester transfer protein deficiency http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. http://purl.obolibrary.org/obo/DOID_0110885 inflammatory bowel disease 10 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0070029 ITM2B-related cerebral amyloid angiopathy 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_0111369 hyperalphalipoproteinemia 1 http://purl.obolibrary.org/obo/DOID_0111368 cholesterol-ester transfer protein deficiency A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. http://purl.obolibrary.org/obo/DOID_0110886 inflammatory bowel disease 9 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. http://purl.obolibrary.org/obo/DOID_0070030 ITM2B-related cerebral amyloid angiopathy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. http://purl.obolibrary.org/obo/DOID_0111370 apolipoprotein C-III deficiency http://purl.obolibrary.org/obo/DOID_0111368 cholesterol-ester transfer protein deficiency A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_0110887 inflammatory bowel disease 12 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3. http://purl.obolibrary.org/obo/DOID_0110888 inflammatory bowel disease 18 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. http://purl.obolibrary.org/obo/DOID_0070031 autosomal dominant intellectual developmental disorder 1 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. http://purl.obolibrary.org/obo/DOID_0111371 isolated hyperchlorhidrosis http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. http://purl.obolibrary.org/obo/DOID_0110889 inflammatory bowel disease 5 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. http://purl.obolibrary.org/obo/DOID_0070032 autosomal dominant intellectual developmental disorder 2 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_0111373 familial progressive hyperpigmentation with or without hypopigmentation http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. http://purl.obolibrary.org/obo/DOID_0110890 inflammatory bowel disease 19 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. http://purl.obolibrary.org/obo/DOID_0070033 autosomal dominant intellectual developmental disorder 3 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. http://purl.obolibrary.org/obo/DOID_0111374 selective pituitary thyroid hormone resistance http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. http://purl.obolibrary.org/obo/DOID_0110891 inflammatory bowel disease 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. http://purl.obolibrary.org/obo/DOID_0070034 autosomal dominant intellectual developmental disorder 4 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. http://purl.obolibrary.org/obo/DOID_0111375 fetal akinesia deformation sequence syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. http://purl.obolibrary.org/obo/DOID_0110892 inflammatory bowel disease 1 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. http://purl.obolibrary.org/obo/DOID_0070035 autosomal dominant intellectual developmental disorder 5 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. http://purl.obolibrary.org/obo/DOID_0111376 fetal akinesia deformation sequence syndrome 3 http://purl.obolibrary.org/obo/DOID_0111375 fetal akinesia deformation sequence syndrome A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. http://purl.obolibrary.org/obo/DOID_0110893 inflammatory bowel disease 13 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. http://purl.obolibrary.org/obo/DOID_0070036 autosomal dominant intellectual developmental disorder 6 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. http://purl.obolibrary.org/obo/DOID_0111377 fetal akinesia deformation sequence syndrome 1 http://purl.obolibrary.org/obo/DOID_0111375 fetal akinesia deformation sequence syndrome A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. http://purl.obolibrary.org/obo/DOID_0110894 inflammatory bowel disease 11 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. http://purl.obolibrary.org/obo/DOID_0070037 autosomal dominant intellectual developmental disorder 7 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. http://purl.obolibrary.org/obo/DOID_0111378 fetal akinesia deformation sequence syndrome 2 http://purl.obolibrary.org/obo/DOID_0111375 fetal akinesia deformation sequence syndrome A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_0110895 inflammatory bowel disease 14 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. http://purl.obolibrary.org/obo/DOID_0070038 autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_0111379 fetal akinesia deformation sequence syndrome 4 http://purl.obolibrary.org/obo/DOID_0111375 fetal akinesia deformation sequence syndrome A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0110896 inflammatory bowel disease 16 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. http://purl.obolibrary.org/obo/DOID_0070039 NESCAV syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. http://purl.obolibrary.org/obo/DOID_0111380 solitary median maxillary central incisor http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. http://purl.obolibrary.org/obo/DOID_0110897 inflammatory bowel disease 15 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. http://purl.obolibrary.org/obo/DOID_0070040 autosomal dominant intellectual developmental disorder 10 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. http://purl.obolibrary.org/obo/DOID_0111381 IVIC syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. http://purl.obolibrary.org/obo/DOID_0110898 inflammatory bowel disease 20 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. http://purl.obolibrary.org/obo/DOID_0070041 autosomal dominant intellectual developmental disorder 11 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. http://purl.obolibrary.org/obo/DOID_0111382 ischiocoxopodopatellar syndrome http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. http://purl.obolibrary.org/obo/DOID_0110899 inflammatory bowel disease 28 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_0110900 inflammatory bowel disease 2 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. http://purl.obolibrary.org/obo/DOID_0070042 Coffin-Siris syndrome 1 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. http://purl.obolibrary.org/obo/DOID_0111383 autosomal dominant keratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_0110901 inflammatory bowel disease 26 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. http://purl.obolibrary.org/obo/DOID_0070043 autosomal dominant intellectual developmental disorder 13 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. http://purl.obolibrary.org/obo/DOID_0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 http://purl.obolibrary.org/obo/DOID_0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. http://purl.obolibrary.org/obo/DOID_0110902 inflammatory bowel disease 27 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3. http://purl.obolibrary.org/obo/DOID_0070044 Coffin-Siris syndrome 2 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. http://purl.obolibrary.org/obo/DOID_0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 http://purl.obolibrary.org/obo/DOID_0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_0110903 inflammatory bowel disease 4 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. http://purl.obolibrary.org/obo/DOID_0070045 Coffin-Siris syndrome 3 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. http://purl.obolibrary.org/obo/DOID_0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 http://purl.obolibrary.org/obo/DOID_0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0110904 inflammatory bowel disease 8 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. http://purl.obolibrary.org/obo/DOID_0070046 Coffin-Siris syndrome 4 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_0111387 familial isolated hypoparathyroidism http://purl.obolibrary.org/obo/DOID_11199 hypoparathyroidism A hypoparathyroidism characterized by by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects. http://purl.obolibrary.org/obo/DOID_0110905 inflammatory bowel disease 22 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. http://purl.obolibrary.org/obo/DOID_0070047 Schuurs-Hoeijmakers Syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. http://purl.obolibrary.org/obo/DOID_0111388 X-linked hypoparathyroidism http://purl.obolibrary.org/obo/DOID_11199 hypoparathyroidism A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. http://purl.obolibrary.org/obo/DOID_0110906 inflammatory bowel disease 21 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. http://purl.obolibrary.org/obo/DOID_0070048 GAND syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_0111389 mucopolysaccharidosis Ih/s http://purl.obolibrary.org/obo/DOID_12802 mucopolysaccharidosis I A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. http://purl.obolibrary.org/obo/DOID_0110907 inflammatory bowel disease 6 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. http://purl.obolibrary.org/obo/DOID_0070049 autosomal dominant intellectual developmental disorder 19 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. http://purl.obolibrary.org/obo/DOID_0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. http://purl.obolibrary.org/obo/DOID_0070051 autosomal dominant intellectual developmental disorder 21 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0070052 autosomal dominant intellectual developmental disorder 22 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. http://purl.obolibrary.org/obo/DOID_0111390 mucopolysaccharidosis Ih http://purl.obolibrary.org/obo/DOID_12802 mucopolysaccharidosis I A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. http://purl.obolibrary.org/obo/DOID_0110908 inflammatory bowel disease 24 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0110909 inflammatory bowel disease 25 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0070053 autosomal dominant intellectual developmental disorder 23 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. http://purl.obolibrary.org/obo/DOID_0070054 Vulto-van Silfout-de Vries syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_0070055 Xia-Gibbs Syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. http://purl.obolibrary.org/obo/DOID_0070056 autosomal dominant intellectual developmental disorder 26 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. http://purl.obolibrary.org/obo/DOID_0070057 Coffin-Siris syndrome 9 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. http://purl.obolibrary.org/obo/DOID_0111391 mucopolysaccharidosis IVA http://purl.obolibrary.org/obo/DOID_12804 mucopolysaccharidosis IV A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. http://purl.obolibrary.org/obo/DOID_0111392 mucopolysaccharidosis type IVB http://purl.obolibrary.org/obo/DOID_12804 mucopolysaccharidosis IV A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. http://purl.obolibrary.org/obo/DOID_0110913 adult hypophosphatasia http://purl.obolibrary.org/obo/DOID_14213 hypophosphatasia A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. http://purl.obolibrary.org/obo/DOID_0070058 Helsmoortel-Van Der Aa Syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. http://purl.obolibrary.org/obo/DOID_0111393 mucopolysaccharidosis type IIIC http://purl.obolibrary.org/obo/DOID_12801 mucopolysaccharidosis III A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. http://purl.obolibrary.org/obo/DOID_0110914 infantile hypophosphatasia http://purl.obolibrary.org/obo/DOID_14213 hypophosphatasia A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0070059 autosomal dominant intellectual developmental disorder 29 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. http://purl.obolibrary.org/obo/DOID_0111394 mucopolysaccharidosis type IIIB http://purl.obolibrary.org/obo/DOID_12801 mucopolysaccharidosis III A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_0110915 childhood hypophosphatasia http://purl.obolibrary.org/obo/DOID_14213 hypophosphatasia A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12. http://purl.obolibrary.org/obo/DOID_0070060 autosomal dominant intellectual developmental disorder 30 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. http://purl.obolibrary.org/obo/DOID_0111395 mucopolysaccharidosis type IIIA http://purl.obolibrary.org/obo/DOID_12801 mucopolysaccharidosis III A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0110916 hereditary spherocytosis type 1 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_0070061 autosomal dominant intellectual developmental disorder 31 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. http://purl.obolibrary.org/obo/DOID_0111396 congenital dyserythropoietic anemia type I http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. http://purl.obolibrary.org/obo/DOID_0110917 hereditary spherocytosis type 2 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. http://purl.obolibrary.org/obo/DOID_0070062 Arboleda-Tham syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_0111397 congenital dyserythropoietic anemia type Ib http://purl.obolibrary.org/obo/DOID_0111396 congenital dyserythropoietic anemia type I A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_0070063 autosomal dominant intellectual developmental disorder 33 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. http://purl.obolibrary.org/obo/DOID_0110918 hereditary spherocytosis type 3 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. http://purl.obolibrary.org/obo/DOID_0111398 congenital dyserythropoietic anemia type Ia http://purl.obolibrary.org/obo/DOID_0111396 congenital dyserythropoietic anemia type I A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2. http://purl.obolibrary.org/obo/DOID_0070064 autosomal dominant intellectual developmental disorder 34 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. http://purl.obolibrary.org/obo/DOID_0110919 hereditary spherocytosis type 4 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_0070065 autosomal dominant intellectual developmental disorder 35 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. http://purl.obolibrary.org/obo/DOID_0070066 autosomal dominant intellectual developmental disorder 36 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. http://purl.obolibrary.org/obo/DOID_0111399 congenital dyserythropoietic anemia type IIIa http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23. http://purl.obolibrary.org/obo/DOID_0110920 hereditary spherocytosis type 5 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. http://purl.obolibrary.org/obo/DOID_0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. http://purl.obolibrary.org/obo/DOID_0070067 White-Sutton syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_0111400 congenital dyserythropoietic anemia type IVa http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. http://purl.obolibrary.org/obo/DOID_0110922 familial hemophagocytic lymphohistiocytosis 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/DOID_0110923 familial hemophagocytic lymphohistiocytosis 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_0070068 autosomal dominant intellectual developmental disorder 38 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/DOID_0111401 congenital dyserythropoietic anemia type II http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. http://purl.obolibrary.org/obo/DOID_0110924 familial hemophagocytic lymphohistiocytosis 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. http://purl.obolibrary.org/obo/DOID_0070069 autosomal dominant intellectual developmental disorder 39 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. http://purl.obolibrary.org/obo/DOID_0111402 mucopolysaccharidosis type IIID http://purl.obolibrary.org/obo/DOID_12801 mucopolysaccharidosis III A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. http://purl.obolibrary.org/obo/DOID_0110925 familial hemophagocytic lymphohistiocytosis 5 http://purl.obolibrary.org/obo/DOID_0050177 monogenic disease A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_0070070 autosomal dominant intellectual developmental disorder 40 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. http://purl.obolibrary.org/obo/DOID_0070071 autosomal dominant intellectual developmental disorder 41 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver Any compound that can disrupt the functions of the endocrine (hormone) system. http://purl.obolibrary.org/obo/DOID_0111404 Jalili syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2. http://purl.obolibrary.org/obo/DOID_0070072 autosomal dominant intellectual developmental disorder 42 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_0070073 autosomal dominant intellectual developmental disorder 43 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. http://purl.obolibrary.org/obo/DOID_0070074 autosomal dominant intellectual developmental disorder 44 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. http://purl.obolibrary.org/obo/NCIT_C391 Copper http://purl.obolibrary.org/obo/CHEBI_33284 nutrient An element with atomic symbol Cu, atomic number 29, and atomic weight 63. http://purl.obolibrary.org/obo/DOID_0111405 Fraser syndrome 1 http://purl.obolibrary.org/obo/DOID_0090001 Fraser syndrome A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. http://purl.obolibrary.org/obo/DOID_0111406 Fraser syndrome 3 http://purl.obolibrary.org/obo/DOID_0090001 Fraser syndrome A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3. http://purl.obolibrary.org/obo/DOID_0070077 schizophrenia 1 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35. http://purl.obolibrary.org/obo/DOID_0080354 Phelan-McDermid syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. http://purl.obolibrary.org/obo/DOID_0080355 hepatobiliary system cancer http://purl.obolibrary.org/obo/DOID_3119 gastrointestinal system cancer A gastrointestinal system cancer that is located_in the hepatobiliary system. http://purl.obolibrary.org/obo/DOID_0070078 schizophrenia 2 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. http://purl.obolibrary.org/obo/DOID_0080356 IgG4-related disease http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. http://purl.obolibrary.org/obo/DOID_0111407 Fraser syndrome 2 http://purl.obolibrary.org/obo/DOID_0090001 Fraser syndrome A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3. http://purl.obolibrary.org/obo/DOID_0070079 schizophrenia 3 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23. http://purl.obolibrary.org/obo/DOID_0111408 exudative vitreoretinopathy 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31. http://purl.obolibrary.org/obo/DOID_0080357 mitochondrial complex IV deficiency nuclear type 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0070080 schizophrenia 4 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_0080358 mitochondrial complex IV deficiency nuclear type 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0070081 schizophrenia 5 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. http://purl.obolibrary.org/obo/DOID_0111409 exudative vitreoretinopathy 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12. http://purl.obolibrary.org/obo/DOID_0080359 mitochondrial complex IV deficiency nuclear type 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_0070082 schizophrenia 6 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_0080360 mitochondrial complex IV deficiency nuclear type 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_0111410 exudative vitreoretinopathy 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_0070083 schizophrenia 7 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_0111411 exudative vitreoretinopathy 4 http://purl.obolibrary.org/obo/DOID_0050739 autosomal genetic disease An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0111412 exudative vitreoretinopathy 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2. http://purl.obolibrary.org/obo/DOID_0080361 trimethylaminuria http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by the inability to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. http://purl.obolibrary.org/obo/DOID_0070084 schizophrenia 8 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p. http://purl.obolibrary.org/obo/DOID_0111413 X-linked exudative vitreoretinopathy 2 http://purl.obolibrary.org/obo/DOID_0050735 X-linked monogenic disease An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0080362 X-linked spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_0080363 mitochondrial pyruvate carrier deficiency http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. http://purl.obolibrary.org/obo/DOID_0070085 schizophrenia 9 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. http://purl.obolibrary.org/obo/DOID_0111414 trichohepatoenteric syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. http://purl.obolibrary.org/obo/DOID_0111415 trichohepatoenteric syndrome 1 http://purl.obolibrary.org/obo/DOID_0111414 trichohepatoenteric syndrome A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15. http://purl.obolibrary.org/obo/DOID_0080365 endometrial hyperplasia http://purl.obolibrary.org/obo/DOID_0060095 uterine benign neoplasm An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. http://purl.obolibrary.org/obo/DOID_0070086 schizophrenia 10 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_0111416 trichohepatoenteric syndrome 2 http://purl.obolibrary.org/obo/DOID_0111414 trichohepatoenteric syndrome A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_0080366 desmoid tumor http://purl.obolibrary.org/obo/DOID_0060123 connective tissue benign neoplasm A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. http://purl.obolibrary.org/obo/DOID_0070087 schizophrenia 11 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. http://purl.obolibrary.org/obo/DOID_0070088 schizophrenia 12 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. http://purl.obolibrary.org/obo/DOID_0080367 chronic eosinophilic leukemia http://purl.obolibrary.org/obo/DOID_1036 chronic leukemia A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. http://purl.obolibrary.org/obo/DOID_0111418 familial apolipoprotein C-II deficiency http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/DOID_0070089 schizophrenia 13 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. http://purl.obolibrary.org/obo/DOID_0080368 sex cord-stromal benign neoplasm http://purl.obolibrary.org/obo/DOID_0050622 reproductive organ benign neoplasm A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. http://purl.obolibrary.org/obo/DOID_0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase. http://purl.obolibrary.org/obo/DOID_0070090 schizophrenia 14 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. http://purl.obolibrary.org/obo/DOID_0080369 ovarian sex-cord stromal tumor http://purl.obolibrary.org/obo/DOID_192 sex cord-gonadal stromal tumor A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. http://purl.obolibrary.org/obo/DOID_0111420 familial GPIHBP1 deficiency http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. http://purl.obolibrary.org/obo/DOID_0080370 ovarian sex cord-stromal benign neoplasm http://purl.obolibrary.org/obo/DOID_0080368 sex cord-stromal benign neoplasm A sex cord-stromal benign neoplasm that arises from the ovary. http://purl.obolibrary.org/obo/DOID_0070091 schizophrenia 15 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. http://purl.obolibrary.org/obo/DOID_0111421 familial apolipoprotein A5 deficiency http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_0070092 schizophrenia 16 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. http://purl.obolibrary.org/obo/DOID_0080371 testicular sex cord-stromal benign neoplasm http://purl.obolibrary.org/obo/DOID_0080368 sex cord-stromal benign neoplasm A sex cord-stromal benign neoplasm that arises from the testis. http://purl.obolibrary.org/obo/DOID_0111422 familial lipase maturation factor 1 deficiency http://purl.obolibrary.org/obo/DOID_0111417 familial chylomicronemia syndrome A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0070093 schizophrenia 18 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. http://purl.obolibrary.org/obo/DOID_0080372 epithelioid inflammatory myofibroblastic sarcoma http://purl.obolibrary.org/obo/DOID_0050905 inflammatory myofibroblastic tumor An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. http://purl.obolibrary.org/obo/DOID_0111423 branchiootorenal syndrome 1 http://purl.obolibrary.org/obo/DOID_14702 branchiootorenal syndrome A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3. http://purl.obolibrary.org/obo/DOID_0070094 oculocutaneous albinism type IA http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. http://purl.obolibrary.org/obo/DOID_0080373 epididymis disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease A male reproductive system disease that is located_in the epididymis. http://purl.obolibrary.org/obo/DOID_0111424 branchiootorenal syndrome 2 http://purl.obolibrary.org/obo/DOID_14702 branchiootorenal syndrome A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/DOID_0080597 Kleefstra syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. http://purl.obolibrary.org/obo/DOID_0070095 oculocutaneous albinism type IB http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. http://purl.obolibrary.org/obo/DOID_0111425 familial restrictive cardiomyopathy 1 http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42. http://purl.obolibrary.org/obo/DOID_0070096 oculocutaneous albinism type II http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. http://purl.obolibrary.org/obo/DOID_0080598 Kleefstra syndrome 2 http://purl.obolibrary.org/obo/DOID_0080597 Kleefstra syndrome A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_0111426 familial restrictive cardiomyopathy 2 http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3. http://purl.obolibrary.org/obo/DOID_0070097 oculocutaneous albinism type III http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. http://purl.obolibrary.org/obo/DOID_0070098 oculocutaneous albinism type IV http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum. http://purl.obolibrary.org/obo/DOID_0111427 familial restrictive cardiomyopathy 3 http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1. http://purl.obolibrary.org/obo/DOID_0070099 oculocutaneous albinism type V http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_0080601 germ cell benign neoplasm http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A benign neoplasm that derives_from germ cells. http://purl.obolibrary.org/obo/DOID_0111428 essential tremor 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31. http://purl.obolibrary.org/obo/DOID_0070100 oculocutaneous albinism type VII http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. http://purl.obolibrary.org/obo/DOID_0111593 distal arthrogryposis type 10 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. http://purl.obolibrary.org/obo/DOID_0111429 essential tremor 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22. http://purl.obolibrary.org/obo/DOID_0070111 Niemann-Pick disease type A http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. http://purl.obolibrary.org/obo/DOID_0111430 essential tremor 3 http://purl.obolibrary.org/obo/DOID_4990 essential tremor An essential tremor that has_material_basis_in variation in a region on chromosome 6p23. http://purl.obolibrary.org/obo/DOID_0111594 distal arthrogryposis type 5D http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. http://purl.obolibrary.org/obo/DOID_0070112 Niemann-Pick disease type B http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. http://purl.obolibrary.org/obo/DOID_0111431 essential tremor 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0111595 congenital contractural arachnodactyly http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. http://purl.obolibrary.org/obo/DOID_0111432 essential tremor 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_0070113 Niemann-Pick disease type C1 http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies. http://purl.obolibrary.org/obo/DOID_0111597 distal arthrogryposis type 1A http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_0111598 distal arthrogryposis type 1B http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. http://purl.obolibrary.org/obo/DOID_0111433 optic atrophy 3 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/DOID_0070114 Niemann-Pick disease type C2 http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. http://purl.obolibrary.org/obo/DOID_0111434 optic atrophy 10 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_0070115 Meckel syndrome 1 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0111600 distal arthrogryposis type 2B1 http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_0111435 optic atrophy 6 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. http://purl.obolibrary.org/obo/DOID_0070116 Meckel syndrome 2 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. http://purl.obolibrary.org/obo/DOID_0070117 Meckel syndrome 3 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_0111601 distal arthrogryposis type 2B2 http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_0111436 optic atrophy 11 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. http://purl.obolibrary.org/obo/DOID_0070118 Meckel syndrome 4 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. http://purl.obolibrary.org/obo/DOID_0111602 distal arthrogryposis type 2B3 http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0111437 optic atrophy 7 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_0070119 Meckel syndrome 5 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. http://purl.obolibrary.org/obo/DOID_0111603 distal arthrogryposis type 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0111438 optic atrophy 5 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. http://purl.obolibrary.org/obo/DOID_0111439 optic atrophy 8 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22. http://purl.obolibrary.org/obo/DOID_0070120 Meckel syndrome 6 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. http://purl.obolibrary.org/obo/DOID_0070121 Meckel syndrome 7 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. http://purl.obolibrary.org/obo/DOID_0111604 Freeman-Sheldon syndrome http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. http://purl.obolibrary.org/obo/DOID_0111440 optic atrophy 4 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3. http://purl.obolibrary.org/obo/DOID_0070122 Meckel syndrome 8 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0111605 distal arthrogryposis type 2A http://purl.obolibrary.org/obo/DOID_0111604 Freeman-Sheldon syndrome A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0111441 optic atrophy 1 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_0070123 congenital nongoitrous hypothyroidism 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_0111606 autosomal recessive Whistling face syndrome http://purl.obolibrary.org/obo/DOID_0111604 Freeman-Sheldon syndrome A Freeman-Sheldon syndrome that has autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_0111442 optic atrophy 9 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_0070124 congenital nongoitrous hypothyroidism 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_0070125 congenital nongoitrous hypothyroidism 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0070126 congenital nongoitrous hypothyroidism 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_0111607 distal arthrogryposis type 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. http://purl.obolibrary.org/obo/DOID_0111443 optic atrophy 2 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21. http://purl.obolibrary.org/obo/DOID_0070127 congenital nongoitrous hypothyroidism 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. http://purl.obolibrary.org/obo/DOID_0111608 distal arthrogryposis type 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. http://purl.obolibrary.org/obo/DOID_0111444 progressive myoclonus epilepsy 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. http://purl.obolibrary.org/obo/DOID_0111609 distal arthrogryposis type 6 http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. http://purl.obolibrary.org/obo/DOID_0070128 congenital nongoitrous hypothyroidism 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. http://purl.obolibrary.org/obo/DOID_0111445 progressive myoclonus epilepsy 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. http://purl.obolibrary.org/obo/DOID_0111610 distal arthrogryposis type 4 http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. http://purl.obolibrary.org/obo/DOID_0070129 autosomal recessive cutis laxa type IID http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_0111446 progressive myoclonus epilepsy 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. http://purl.obolibrary.org/obo/DOID_0111611 autosomal recessive spinocerebellar ataxia 4 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. http://purl.obolibrary.org/obo/DOID_0070130 autosomal dominant cutis laxa 1 http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. http://purl.obolibrary.org/obo/DOID_0111447 progressive myoclonus epilepsy 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. http://purl.obolibrary.org/obo/DOID_0070131 autosomal dominant cutis laxa 3 http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0111613 autosomal recessive spinocerebellar ataxia 23 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. http://purl.obolibrary.org/obo/DOID_0111614 autosomal recessive spinocerebellar ataxia 22 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/DOID_0111448 progressive myoclonus epilepsy 1B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. http://purl.obolibrary.org/obo/DOID_0070132 autosomal recessive cutis laxa type IIIA http://purl.obolibrary.org/obo/DOID_0070143 autosomal recessive cutis laxa type III A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0111615 autosomal recessive spinocerebellar ataxia 24 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. http://purl.obolibrary.org/obo/DOID_0111449 progressive myoclonus epilepsy 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. http://purl.obolibrary.org/obo/DOID_0070133 autosomal recessive cutis laxa type IB http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0111616 autosomal recessive spinocerebellar ataxia 27 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. http://purl.obolibrary.org/obo/DOID_0111450 progressive myoclonus epilepsy 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0111451 progressive myoclonus epilepsy 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_0070134 autosomal recessive cutis laxa type IIA http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0111452 progressive myoclonus epilepsy 1A http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_0111617 autosomal recessive spinocerebellar ataxia 6 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. http://purl.obolibrary.org/obo/DOID_0111618 autosomal recessive spinocerebellar ataxia 8 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. http://purl.obolibrary.org/obo/DOID_0070135 autosomal recessive cutis laxa type IA http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0111453 2-aminoadipic 2-oxoadipic aciduria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. http://purl.obolibrary.org/obo/DOID_0111619 combined D-2- and L-2-hydroxyglutaric aciduria http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_0070136 autosomal dominant cutis laxa 2 http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0111620 corneal dystrophy-perceptive deafness syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_0111454 SHORT syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_0070137 autosomal recessive cutis laxa type IIB http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0111621 Temtamy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. http://purl.obolibrary.org/obo/DOID_0111455 GRACILE syndrome http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_0111622 ACTH-independent macronodular adrenal hyperplasia http://purl.obolibrary.org/obo/DOID_446 primary hyperaldosteronism A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. http://purl.obolibrary.org/obo/DOID_0070138 autosomal recessive cutis laxa type IIIB http://purl.obolibrary.org/obo/DOID_0070143 autosomal recessive cutis laxa type III An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0111456 Kaufman oculocerebrofacial syndrome http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. http://purl.obolibrary.org/obo/DOID_0111623 ACTH-independent macronodular adrenal hyperplasia 1 http://purl.obolibrary.org/obo/DOID_0111622 ACTH-independent macronodular adrenal hyperplasia An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. http://purl.obolibrary.org/obo/DOID_0070139 autosomal recessive cutis laxa type IC http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0111457 STING-associated vasculopathy with onset in infancy http://purl.obolibrary.org/obo/DOID_0060051 autoimmune disease of cardiovascular system An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0111624 ACTH-independent macronodular adrenal hyperplasia 2 http://purl.obolibrary.org/obo/DOID_0111622 ACTH-independent macronodular adrenal hyperplasia An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0070140 autosomal recessive cutis laxa type IIC http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. http://purl.obolibrary.org/obo/DOID_0111458 galactose epimerase deficiency http://purl.obolibrary.org/obo/DOID_9870 galactosemia A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. http://purl.obolibrary.org/obo/DOID_0111625 ventriculomegaly - cystic kidney disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. http://purl.obolibrary.org/obo/DOID_0111459 classic galactosemia http://purl.obolibrary.org/obo/DOID_9870 galactosemia A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_0111626 D-glyceric aciduria http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. http://purl.obolibrary.org/obo/DOID_0070143 autosomal recessive cutis laxa type III http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. http://purl.obolibrary.org/obo/DOID_0111460 cardiofaciocutaneous syndrome 1 http://purl.obolibrary.org/obo/DOID_0060233 cardiofaciocutaneous syndrome A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0111627 DOORS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. http://purl.obolibrary.org/obo/DOID_0111461 cardiofaciocutaneous syndrome 2 http://purl.obolibrary.org/obo/DOID_0060233 cardiofaciocutaneous syndrome A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. http://purl.obolibrary.org/obo/DOID_0111628 high myopia-sensorineural deafness syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. http://purl.obolibrary.org/obo/DOID_0070145 hereditary sensory and autonomic neuropathy type 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_0111462 cardiofaciocutaneous syndrome 3 http://purl.obolibrary.org/obo/DOID_0060233 cardiofaciocutaneous syndrome A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. http://purl.obolibrary.org/obo/DOID_0111629 dihydropyrimidinase deficiency http://purl.obolibrary.org/obo/DOID_0050832 pyrimidine metabolic disorder A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3. http://purl.obolibrary.org/obo/DOID_0111630 familial erythrocytosis 8 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. http://purl.obolibrary.org/obo/DOID_0070146 congenital insensitivity to pain with anhidrosis http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_0070147 hereditary sensory neuropathy type 2C http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0111463 cardiofaciocutaneous syndrome 4 http://purl.obolibrary.org/obo/DOID_0060233 cardiofaciocutaneous syndrome A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0111631 familial erythrocytosis 7 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0070148 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux. http://purl.obolibrary.org/obo/DOID_0111464 combined oxidative phosphorylation deficiency 35 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. http://purl.obolibrary.org/obo/DOID_0111632 familial erythrocytosis 6 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. http://purl.obolibrary.org/obo/DOID_0070149 hereditary sensory and autonomic neuropathy type 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_0111465 combined oxidative phosphorylation deficiency 21 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. http://purl.obolibrary.org/obo/DOID_0111633 congenital sucrase-isomaltase deficiency http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. http://purl.obolibrary.org/obo/DOID_0070150 hereditary sensory and autonomic neuropathy type 2B http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the RETREG1 gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_0111466 combined oxidative phosphorylation deficiency 38 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. http://purl.obolibrary.org/obo/DOID_0111634 autosomal recessive nonsyndromic deafness 99 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0070151 hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous or compound heterozygous in the DST gene on chromosome 6p12. http://purl.obolibrary.org/obo/DOID_0111467 combined oxidative phosphorylation deficiency 13 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. http://purl.obolibrary.org/obo/DOID_0111635 autosomal recessive nonsyndromic deafness 57 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/DOID_0070152 hereditary sensory and autonomic neuropathy type 1A http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0111468 combined oxidative phosphorylation deficiency 25 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. http://purl.obolibrary.org/obo/DOID_0111636 autosomal recessive nonsyndromic deafness 113 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0111637 autosomal recessive nonsyndromic deafness 112 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. http://purl.obolibrary.org/obo/DOID_0070153 hereditary sensory and autonomic neuropathy type 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0070154 hereditary sensory neuropathy type 1F http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment that appears during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0111469 combined oxidative phosphorylation deficiency 16 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. http://purl.obolibrary.org/obo/DOID_0111638 autosomal recessive nonsyndromic deafness 100 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. http://purl.obolibrary.org/obo/DOID_0070155 hereditary sensory and autonomic neuropathy type 2A http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0070156 hereditary sensory neuropathy type 1D http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. http://purl.obolibrary.org/obo/DOID_0111470 combined oxidative phosphorylation deficiency 28 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. http://purl.obolibrary.org/obo/DOID_0111639 autosomal recessive nonsyndromic deafness 109 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_0111471 combined oxidative phosphorylation deficiency 30 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. http://purl.obolibrary.org/obo/DOID_0070157 hereditary sensory and autonomic neuropathy type 1C http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_0111640 autosomal recessive nonsyndromic deafness 111 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. http://purl.obolibrary.org/obo/DOID_0111472 combined oxidative phosphorylation deficiency 9 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. http://purl.obolibrary.org/obo/DOID_0070158 hereditary sensory neuropathy type 1E http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0111641 autosomal recessive nonsyndromic deafness 94 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_0111473 combined oxidative phosphorylation deficiency 5 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_0070159 X-linked hereditary sensory neuropathy http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A hereditary sensory and autonomic neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life without autonomic dysfunction. http://purl.obolibrary.org/obo/DOID_0111642 autosomal recessive nonsyndromic deafness 114 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_0111474 combined oxidative phosphorylation deficiency 1 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. http://purl.obolibrary.org/obo/DOID_0070160 atypical hereditary sensory neuropathy http://purl.obolibrary.org/obo/DOID_0050548 hereditary sensory and autonomic neuropathy A hereditary sensory and autonomic neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. http://purl.obolibrary.org/obo/DOID_0111643 autosomal recessive nonsyndromic deafness 115 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0111475 combined oxidative phosphorylation deficiency 39 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by progressive, primarily distal reduced sensation to pain, temperature, and touch with congenital to juvenile onset, autosomal recessive inheritance, and variable, limited autonomic and muscular dysfunction. Loss of sensation commonly results in Charcot joints, unnoticed lacerations, acral mutilations, and osteomyelitis. http://purl.obolibrary.org/obo/DOID_0111644 autosomal recessive nonsyndromic deafness 110 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_0111476 combined oxidative phosphorylation deficiency 19 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary sensory and autonomic neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0111477 combined oxidative phosphorylation deficiency 14 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. http://purl.obolibrary.org/obo/DOID_0080202 adenoid cystic carcinoma http://purl.obolibrary.org/obo/DOID_8858 tonsil cancer An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. http://purl.obolibrary.org/obo/DOID_0111646 congenital lactase deficiency http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. http://purl.obolibrary.org/obo/DOID_0111478 combined oxidative phosphorylation deficiency 20 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_0080204 renal hypoplasia http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. http://purl.obolibrary.org/obo/DOID_0111647 Schopf-Schulz-Passarge syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_0111479 combined oxidative phosphorylation deficiency 8 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract http://purl.obolibrary.org/obo/DOID_557 kidney disease A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. http://purl.obolibrary.org/obo/DOID_0111648 ectopia lentis with ectopia of pupil http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. http://purl.obolibrary.org/obo/DOID_0111480 combined oxidative phosphorylation deficiency 10 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. http://purl.obolibrary.org/obo/DOID_0080206 congenital anomalies of the kidney and urinary tract 1 http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0111481 combined oxidative phosphorylation deficiency 11 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. http://purl.obolibrary.org/obo/DOID_0080207 congenital anomalies of the kidney and urinary tract 2 http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_0111650 ectodermal dysplasia 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. http://purl.obolibrary.org/obo/DOID_0111482 combined oxidative phosphorylation deficiency 36 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_0080208 metabolic dysfunction-associated steatotic liver disease http://purl.obolibrary.org/obo/DOID_9452 steatotic liver disease A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. http://purl.obolibrary.org/obo/DOID_0111651 ectodermal dysplasia 15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/DOID_0111483 combined oxidative phosphorylation deficiency 2 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. http://purl.obolibrary.org/obo/DOID_0111139 mitochondrial complex III deficiency http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. http://purl.obolibrary.org/obo/DOID_0111652 ectodermal dysplasia 12 http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11. http://purl.obolibrary.org/obo/DOID_0111484 combined oxidative phosphorylation deficiency 18 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. http://purl.obolibrary.org/obo/DOID_0111140 IGSF1 deficiency syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0111653 ectodermal dysplasia 11A http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. http://purl.obolibrary.org/obo/DOID_0111654 ectodermal dysplasia 11B http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. http://purl.obolibrary.org/obo/DOID_0111485 combined oxidative phosphorylation deficiency 24 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_0111141 delayed sleep phase syndrome http://purl.obolibrary.org/obo/DOID_535 sleep disorder A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. http://purl.obolibrary.org/obo/DOID_0111486 combined oxidative phosphorylation deficiency 3 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. http://purl.obolibrary.org/obo/DOID_0111142 oligomeganephronia http://purl.obolibrary.org/obo/DOID_0080204 renal hypoplasia A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons. http://purl.obolibrary.org/obo/DOID_0111656 ectodermal dysplasia 9 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0111657 ectodermal dysplasia 5 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1. http://purl.obolibrary.org/obo/DOID_0111487 combined oxidative phosphorylation deficiency 7 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. http://purl.obolibrary.org/obo/DOID_0111658 ectodermal dysplasia 4 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0111488 combined oxidative phosphorylation deficiency 31 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. http://purl.obolibrary.org/obo/DOID_0111144 preterm premature rupture of the membranes http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. http://purl.obolibrary.org/obo/DOID_0111659 ectodermal dysplasia 6 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2. http://purl.obolibrary.org/obo/DOID_0111489 combined oxidative phosphorylation deficiency 27 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_0111145 ureteropelvic junction obstruction http://purl.obolibrary.org/obo/DOID_5200 urinary tract obstruction A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter. http://purl.obolibrary.org/obo/DOID_0111146 acquired von Willebrand syndrome http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. http://purl.obolibrary.org/obo/DOID_0111660 ectodermal dysplasia 7 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0111490 combined oxidative phosphorylation deficiency 26 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. http://purl.obolibrary.org/obo/DOID_0111147 angioimmunoblastic T-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050749 peripheral T-cell lymphoma A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. http://purl.obolibrary.org/obo/DOID_0111661 ectodermal dysplasia 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. http://purl.obolibrary.org/obo/DOID_0111491 combined oxidative phosphorylation deficiency 15 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. http://purl.obolibrary.org/obo/DOID_0111148 isolated ectopia lentis http://purl.obolibrary.org/obo/DOID_110 lens disease A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. http://purl.obolibrary.org/obo/DOID_0111662 ectodermal dysplasia 14 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_0111663 ectodermal dysplasia 10A http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_0111492 combined oxidative phosphorylation deficiency 32 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0111149 autosomal recessive isolated ectopia lentis 2 http://purl.obolibrary.org/obo/DOID_0111148 isolated ectopia lentis An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0111664 ectodermal dysplasia 1 http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0111665 ectodermal dysplasia 10B http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_0111493 combined oxidative phosphorylation deficiency 12 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. http://purl.obolibrary.org/obo/DOID_0111150 autosomal dominant isolated ectopia lentis 1 http://purl.obolibrary.org/obo/DOID_0111148 isolated ectopia lentis An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_0111494 combined oxidative phosphorylation deficiency 4 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0111151 Prinzmetal angina http://purl.obolibrary.org/obo/DOID_11840 coronary artery vasospasm A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. http://purl.obolibrary.org/obo/DOID_0111667 enterokinase deficiency http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. http://purl.obolibrary.org/obo/DOID_0111668 Kohlschutter-Tonz syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0111495 combined oxidative phosphorylation deficiency 33 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0111152 multicentric Castleman disease http://purl.obolibrary.org/obo/DOID_0111157 Castleman disease A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. http://purl.obolibrary.org/obo/DOID_0111669 hyaline fibromatosis syndrome http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. http://purl.obolibrary.org/obo/DOID_0111496 combined oxidative phosphorylation deficiency 17 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. http://purl.obolibrary.org/obo/DOID_0080667 spinal muscular atrophy type 0 http://purl.obolibrary.org/obo/DOID_0060160 childhood spinal muscular atrophy A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. http://purl.obolibrary.org/obo/DOID_0111497 combined oxidative phosphorylation deficiency 34 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_0111154 postural orthostatic tachycardia syndrome http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. http://purl.obolibrary.org/obo/DOID_0111813 syndactyly type 8 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0111498 combined oxidative phosphorylation deficiency 22 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. http://purl.obolibrary.org/obo/DOID_0111499 combined oxidative phosphorylation deficiency 37 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0111814 methylmalonic acidemia and homocysteinemia cblX type http://purl.obolibrary.org/obo/DOID_14749 methylmalonic acidemia A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0111155 autosomal recessive spinocerebellar ataxia 21 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0111500 combined oxidative phosphorylation deficiency 23 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis http://purl.obolibrary.org/obo/DOID_0050699 Dent disease A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_0111501 combined oxidative phosphorylation deficiency 29 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. http://purl.obolibrary.org/obo/DOID_0111156 spermatogenic failure 9 http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. http://purl.obolibrary.org/obo/DOID_0111816 syndactyly type 1 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. http://purl.obolibrary.org/obo/DOID_0111502 combined oxidative phosphorylation deficiency 6 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. http://purl.obolibrary.org/obo/DOID_0111157 Castleman disease http://purl.obolibrary.org/obo/DOID_0060704 lymphoproliferative syndrome A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. http://purl.obolibrary.org/obo/DOID_0111817 syndactyly type 3 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. http://purl.obolibrary.org/obo/DOID_0111503 Li-Fraumeni syndrome 1 http://purl.obolibrary.org/obo/DOID_3012 Li-Fraumeni syndrome A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0111158 SADDAN http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0111159 partial trisomy distal 4q http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. http://purl.obolibrary.org/obo/DOID_0111818 syndactyly type 4 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. http://purl.obolibrary.org/obo/DOID_0111504 Li-Fraumeni syndrome 2 http://purl.obolibrary.org/obo/DOID_3012 Li-Fraumeni syndrome A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1. http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma http://purl.obolibrary.org/obo/DOID_2841 asthma An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. http://purl.obolibrary.org/obo/DOID_0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0111161 Crouzon syndrome-acanthosis nigricans syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0111819 syndactyly type 5 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/DOID_0080899 lung pleomorphic carcinoma http://purl.obolibrary.org/obo/DOID_1324 lung cancer A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. http://purl.obolibrary.org/obo/DOID_0111162 epidermal nevus http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. http://purl.obolibrary.org/obo/DOID_0111820 zygodactyly 1 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement. http://purl.obolibrary.org/obo/DOID_0080900 oral rhabdomyosarcoma http://purl.obolibrary.org/obo/DOID_8618 oral cavity cancer A rhabdomyosarcoma located in the oral cavity. http://purl.obolibrary.org/obo/DOID_0111163 molybdenum cofactor deficiency type B http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. http://purl.obolibrary.org/obo/DOID_0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/DOID_0080901 bladder sarcomatoid transitional cell carcinoma http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer A sarcomatoid transitional cell carcinoma that is located_in the bladder. http://purl.obolibrary.org/obo/DOID_0111164 molybdenum cofactor deficiency type A http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0111822 CHILD syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0080902 bladder small cell carcinoma http://purl.obolibrary.org/obo/DOID_4007 bladder carcinoma A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. http://purl.obolibrary.org/obo/DOID_0111823 autosomal hemophilia A http://purl.obolibrary.org/obo/DOID_0061030 hemophilia A hemophilia characterized by autosomal inheritance of a Factor VIII deficiency. http://purl.obolibrary.org/obo/DOID_0080904 astroblastoma, MN1-altered http://purl.obolibrary.org/obo/DOID_7305 astroblastoma An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. http://purl.obolibrary.org/obo/DOID_0111166 molybdenum cofactor deficiency type C http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0111825 autosomal dominant Aarskog syndrome http://purl.obolibrary.org/obo/DOID_0111824 Aarskog syndrome An Aarskog syndrome characterized by autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0080905 central nervous system neuroblastoma http://purl.obolibrary.org/obo/DOID_4439 central nervous system germ cell tumor A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. http://purl.obolibrary.org/obo/DOID_0111826 Abruzzo-Erickson syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0111167 Dyggve-Melchior-Clausen disease http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0080906 CNS neuroblastoma with FOXR2 activation http://purl.obolibrary.org/obo/DOID_0080905 central nervous system neuroblastoma A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. http://purl.obolibrary.org/obo/DOID_0111827 X-linked spinal muscular atrophy 2 http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0080907 Cockayne syndrome A http://purl.obolibrary.org/obo/DOID_2962 Cockayne syndrome A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia http://purl.obolibrary.org/obo/DOID_0050953 X-linked hereditary ataxia A hereditary ataxia characterized by X-linked inheritance. http://purl.obolibrary.org/obo/DOID_0111168 sepiapterin reductase deficiency http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. http://purl.obolibrary.org/obo/DOID_0080908 Cockayne syndrome B http://purl.obolibrary.org/obo/DOID_2962 Cockayne syndrome A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. http://purl.obolibrary.org/obo/DOID_0080909 castration-resistant prostate carcinoma http://purl.obolibrary.org/obo/DOID_10286 prostate carcinoma A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. http://purl.obolibrary.org/obo/DOID_0111829 X-linked spinocerebellar ataxia 1 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0111169 subcortical band heterotopia http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. http://purl.obolibrary.org/obo/DOID_0080911 cerebrooculofacioskeletal syndrome 1 http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. http://purl.obolibrary.org/obo/DOID_0111830 X-linked spinocerebellar ataxia 2 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. http://purl.obolibrary.org/obo/DOID_0111170 autosomal dominant sensory ataxia 1 http://purl.obolibrary.org/obo/DOID_0050951 hereditary ataxia A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. http://purl.obolibrary.org/obo/DOID_0080913 cerebrooculofacioskeletal syndrome 3 http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. http://purl.obolibrary.org/obo/DOID_0111831 X-linked spinocerebellar ataxia 3 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. http://purl.obolibrary.org/obo/DOID_60007 cerebrovascular benign neoplasm http://purl.obolibrary.org/obo/DOID_0060091 cardiovascular organ benign neoplasm A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system. http://purl.obolibrary.org/obo/DOID_0080914 cerebrooculofacioskeletal syndrome 4 http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0111832 X-linked spinocerebellar ataxia 4 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. http://purl.obolibrary.org/obo/DOID_60008 parathyroid gland benign neoplasm http://purl.obolibrary.org/obo/DOID_11201 parathyroid gland disease An endocrine organ benign neoplasm that is located_in some parathyroid gland. http://purl.obolibrary.org/obo/DOID_0080915 histiocytic sarcoma http://purl.obolibrary.org/obo/DOID_5621 histiocytic and dendritic cell cancer A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. http://purl.obolibrary.org/obo/DOID_0111833 X-linked spinocerebellar ataxia 5 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. http://purl.obolibrary.org/obo/DOID_60009 pituitary gland benign neoplasm http://purl.obolibrary.org/obo/DOID_53 pituitary gland disease A benign neoplasm located in the pituitary gland. http://purl.obolibrary.org/obo/DOID_0080916 erythroleukemia http://purl.obolibrary.org/obo/DOID_0080780 acute erythroid leukemia An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. http://purl.obolibrary.org/obo/DOID_0111834 X-linked reticulate pigmentary disorder http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. http://purl.obolibrary.org/obo/DOID_0080937 wild-type amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. http://purl.obolibrary.org/obo/DOID_0080917 sporadic amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/DOID_332 amyotrophic lateral sclerosis An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS. http://purl.obolibrary.org/obo/DOID_0080918 polymicrogyria http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). http://purl.obolibrary.org/obo/DOID_0111835 congenital nongoitrous hypothyroidism 9 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome http://purl.obolibrary.org/obo/DOID_2962 Cockayne syndrome A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. http://purl.obolibrary.org/obo/DOID_0080919 unilateral focal polymicrogyria http://purl.obolibrary.org/obo/DOID_0080918 polymicrogyria A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. http://purl.obolibrary.org/obo/CHEBI_5631 heavy metal http://purl.obolibrary.org/obo/CHEBI_64909 poison Any metal that is characterized by its rather high atomic mass and density. Although typically occurring in low concentrations, they can be found all throughout the Earth's crust (Commonly, a density of at least 5 g cm(3) is used to define a heavy metal and to differentiate it from other, ''light'' metals). http://purl.obolibrary.org/obo/DOID_0111836 congenital nongoitrous hypothyroidism 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. http://purl.obolibrary.org/obo/DOID_0080920 bilateral generalized polymicrogyria http://purl.obolibrary.org/obo/DOID_0080918 polymicrogyria A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain. http://purl.obolibrary.org/obo/DOID_0111837 congenital nongoitrous hypothyroidism 8 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. http://purl.obolibrary.org/obo/DOID_0081002 Cowden syndrome 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. http://purl.obolibrary.org/obo/DOID_0080921 bilateral frontal polymicrogyria http://purl.obolibrary.org/obo/DOID_0080918 polymicrogyria A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. http://purl.obolibrary.org/obo/SYMP_0019188 intracranial hemorrhage http://purl.obolibrary.org/obo/SYMP_0000041 hemorrhage A hemorrhage that is characterized by any bleeding occurring within the skull. http://purl.obolibrary.org/obo/DOID_0111838 Basilicata-Akhtar syndrome http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_0111839 congenital disorder of glycosylation Icc http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0080922 complex cortical dysplasia with other brain malformations 14A http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/SYMP_0019189 intracerebral hemorrhage http://purl.obolibrary.org/obo/SYMP_0000041 hemorrhage A hemorrhage that is characterized by bleeding within the brain tissue itself. http://purl.obolibrary.org/obo/DOID_0111840 Van Esch-O'Driscoll syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. http://purl.obolibrary.org/obo/SYMP_0019190 subdural hemorrhage http://purl.obolibrary.org/obo/SYMP_0000041 hemorrhage A hemorrhage that is characterized by bleeding that occurs within the skull of head but outside the actual brain tissue. http://purl.obolibrary.org/obo/DOID_0080924 complex cortical dysplasia with other brain malformations 14B http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_0111841 Shukla-Vernon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. http://purl.obolibrary.org/obo/DOID_0111842 Keipert syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. http://purl.obolibrary.org/obo/SYMP_0020008 barking croup cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a tight, low-pitched, and barky (like a barking seal) cough. http://purl.obolibrary.org/obo/DOID_0080925 cytochrome P450 oxidoreductase deficiency http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. http://purl.obolibrary.org/obo/DOID_0081365 Paget disease of bone 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0111843 Paganini-Miozzo syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. http://purl.obolibrary.org/obo/DOID_0080926 7q11.23 duplication syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. http://purl.obolibrary.org/obo/DOID_0080927 apolipoprotein A-IV associated amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. http://purl.obolibrary.org/obo/DOID_0080928 dialysis-related amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. http://purl.obolibrary.org/obo/DOID_0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0111844 X-linked intellectual developmental disorder 108 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0080929 variant ABeta2M amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. http://purl.obolibrary.org/obo/DOID_0080931 primary localized cutaneous amyloidosis 2 http://purl.obolibrary.org/obo/DOID_0050639 primary cutaneous amyloidosis A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. http://purl.obolibrary.org/obo/DOID_0111845 Mullegama-Klein-Martinez syndrome http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. http://purl.obolibrary.org/obo/DOID_0070365 nevoid basal cell carcinoma syndrome 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0111846 X-linked congenital hemolytic anemia http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1. http://purl.obolibrary.org/obo/DOID_0080933 immunoglobulin light chain amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. http://purl.obolibrary.org/obo/DOID_0080934 immunoglobulin heavy chain amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. http://purl.obolibrary.org/obo/DOID_0081356 spinal muscular atrophy, Jokela type http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_0080935 immunoglobulin heavy-and-light chain http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. http://purl.obolibrary.org/obo/DOID_0111847 osteogenesis imperfecta type 19 http://purl.obolibrary.org/obo/DOID_12347 osteogenesis imperfecta An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. http://purl.obolibrary.org/obo/DOID_0081357 isolated mitochondrial myopathy http://purl.obolibrary.org/obo/DOID_699 mitochondrial myopathy A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_0080936 serum amyloid A amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. http://purl.obolibrary.org/obo/DOID_0111848 osteogenesis imperfecta type 18 http://purl.obolibrary.org/obo/DOID_12347 osteogenesis imperfecta An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. http://purl.obolibrary.org/obo/DOID_0111849 osteogenesis imperfecta type 20 http://purl.obolibrary.org/obo/DOID_12347 osteogenesis imperfecta An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. http://purl.obolibrary.org/obo/DOID_0081361 spastic quadriplegic cerebral palsy 3 http://purl.obolibrary.org/obo/DOID_10970 spastic quadriplegic cerebral palsy A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0081369 Paget disease of bone 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0080938 nonobstructive coronary artery disease http://purl.obolibrary.org/obo/DOID_3393 coronary artery disease A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent. http://purl.obolibrary.org/obo/DOID_0111850 primary ciliary dyskinesia 36 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. http://purl.obolibrary.org/obo/DOID_0070526 PLACK syndrome http://purl.obolibrary.org/obo/DOID_37 skin disease An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. http://purl.obolibrary.org/obo/DOID_0080939 hereditary angioedema type I http://purl.obolibrary.org/obo/DOID_14735 hereditary angioedema A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. http://purl.obolibrary.org/obo/DOID_0111851 primary ciliary dyskinesia 44 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. http://purl.obolibrary.org/obo/DOID_0080940 hereditary angioedema type III http://purl.obolibrary.org/obo/DOID_14735 hereditary angioedema A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0111852 primary ciliary dyskinesia 38 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. http://purl.obolibrary.org/obo/DOID_0070531 foveal hypoplasia 2 http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen. http://purl.obolibrary.org/obo/DOID_0080941 acquired angioedema http://purl.obolibrary.org/obo/DOID_1558 angioedema An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. http://purl.obolibrary.org/obo/DOID_0080942 anauxetic dysplasia http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. http://purl.obolibrary.org/obo/DOID_0080943 46,XX sex reversal 5 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_0111853 primary ciliary dyskinesia 40 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. http://purl.obolibrary.org/obo/DOID_0111854 primary ciliary dyskinesia 39 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_0070520 peeling skin syndrome 1 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_0080944 familial Behcet-like autoinflammatory syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_0111855 primary ciliary dyskinesia 42 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/DOID_0070518 familial multiple lipomatosis http://purl.obolibrary.org/obo/DOID_3153 lipomatosis A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0080945 abdominal obesity-metabolic syndrome 4 http://purl.obolibrary.org/obo/DOID_0060611 abdominal obesity-metabolic syndrome An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0111856 primary ciliary dyskinesia 43 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_0081414 TFEB-rearranged renal cell carcinoma http://purl.obolibrary.org/obo/DOID_0081413 renal cell carcinoma with MiT translocations A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. http://purl.obolibrary.org/obo/DOID_0080946 retinal dystrophy with leukodystrophy http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. http://purl.obolibrary.org/obo/DOID_0111857 primary ciliary dyskinesia 45 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. http://purl.obolibrary.org/obo/DOID_0111858 primary ciliary dyskinesia 41 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations http://purl.obolibrary.org/obo/DOID_3098 small cell sarcoma A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. http://purl.obolibrary.org/obo/DOID_0080947 acute flaccid myelitis http://purl.obolibrary.org/obo/DOID_322 myelitis A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs. http://purl.obolibrary.org/obo/DOID_0080709 NK cell deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that results from deficiency in the number or function of CD56+CD3− NK cell in peripheral blood. http://purl.obolibrary.org/obo/DOID_0081417 poorly differentiated chordoma http://purl.obolibrary.org/obo/DOID_3302 chordoma A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. http://purl.obolibrary.org/obo/DOID_0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. http://purl.obolibrary.org/obo/DOID_0060941 interstitial lung disease 1 http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0080949 alcoholic ketoacidosis http://purl.obolibrary.org/obo/DOID_0050758 metabolic acidosis A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy. http://purl.obolibrary.org/obo/DOID_0080711 multisystem inflammatory syndrome in children http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. http://purl.obolibrary.org/obo/DOID_0060945 amelogenesis imperfecta type 1K http://purl.obolibrary.org/obo/DOID_2187 amelogenesis imperfecta An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0080950 alopecia-mental retardation syndrome 4 http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0080712 gene duplication disease http://purl.obolibrary.org/obo/DOID_0050177 monogenic disease A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. http://purl.obolibrary.org/obo/DOID_0081448 cone-rod dystrophy 22 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_0080951 alopecia-mental retardation syndrome 3 http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. http://purl.obolibrary.org/obo/DOID_0080952 AMED syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. http://purl.obolibrary.org/obo/DOID_0080714 hereditary alpha tryptasemia syndrome http://purl.obolibrary.org/obo/DOID_0080712 gene duplication disease A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems. http://purl.obolibrary.org/obo/DOID_0060991 congenital disorder of deglycosylation http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. http://purl.obolibrary.org/obo/DOID_0080953 amelogenesis imperfecta type 1J http://purl.obolibrary.org/obo/DOID_2187 amelogenesis imperfecta An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080715 developmental and epileptic encephalopathy 82 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_0060984 digenic dyskeratosis congenita http://purl.obolibrary.org/obo/DOID_2729 dyskeratosis congenita A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita http://purl.obolibrary.org/obo/DOID_863 nervous system disease A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. http://purl.obolibrary.org/obo/DOID_0080716 infantile liver failure syndrome http://purl.obolibrary.org/obo/DOID_409 liver disease A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. http://purl.obolibrary.org/obo/DOID_0070607 autosomal dominant nonsyndromic deafness 90 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12. http://purl.obolibrary.org/obo/DOID_0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered http://purl.obolibrary.org/obo/DOID_7841 childhood embryonal tumor with multilayered rosettes, C19MC-altered A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. http://purl.obolibrary.org/obo/DOID_0080717 infantile liver failure syndrome 1 http://purl.obolibrary.org/obo/DOID_0080716 infantile liver failure syndrome An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in the PLCG2 gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_0080957 primary hypoalphalipoproteinemia 1 http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. http://purl.obolibrary.org/obo/DOID_0080718 GNE myopathy http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. http://purl.obolibrary.org/obo/DOID_0061003 pancreatic agenesis 1 http://purl.obolibrary.org/obo/DOID_0050877 pancreatic agenesis A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_0080958 primary hypoalphalipoproteinemia 2 http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_0080719 congenital myopathy 6 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. http://purl.obolibrary.org/obo/TRANS_0000027 arachnid borne transmission http://purl.obolibrary.org/obo/TRANS_0000019 arthropod borne transmission Arachnid borne transmission is an arthropod vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary arthropod vector such as a tick to another host. http://purl.obolibrary.org/obo/DOID_0080959 arrhythmogenic right ventricular dysplasia 14 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0080720 autosomal dominant congenital deafness with onychodystrophy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. http://purl.obolibrary.org/obo/SYMP_0000829 neck pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by an unpleasant sensation localized in the neck that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual. http://purl.obolibrary.org/obo/DOID_0080960 amelogenesis imperfecta type 2A6 http://purl.obolibrary.org/obo/DOID_2187 amelogenesis imperfecta An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0080721 calvarial doughnut lesions with bone fragility http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. http://purl.obolibrary.org/obo/FOODON_00001579 alcoholic beverage http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar. http://purl.obolibrary.org/obo/DOID_0080962 anauxetic dysplasia 2 http://purl.obolibrary.org/obo/DOID_0080942 anauxetic dysplasia A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_0080722 Kenny-Caffey syndrome type 1 http://purl.obolibrary.org/obo/DOID_0080724 Kenny-Caffey syndrome A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_0080723 Kenny-Caffey syndrome type 2 http://purl.obolibrary.org/obo/DOID_0080724 Kenny-Caffey syndrome A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. http://purl.obolibrary.org/obo/SYMP_0000895 anaphylactic shock http://purl.obolibrary.org/obo/SYMP_0019138 immune system symptom An acute allergic reaction to an antigen to which the body has become hypersensitive. http://purl.obolibrary.org/obo/DOID_0080963 anauxetic dysplasia 3 http://purl.obolibrary.org/obo/DOID_0080942 anauxetic dysplasia A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_0080724 Kenny-Caffey syndrome http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. http://purl.obolibrary.org/obo/SYMP_0000896 exophthalmos http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom An abnormal protrusion or displacement of an eye or other body part. http://purl.obolibrary.org/obo/DOID_0080964 intracranial berry aneurysm 1 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2. http://purl.obolibrary.org/obo/DOID_0080725 BASAN syndrome http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. http://purl.obolibrary.org/obo/SYMP_0000897 ventricular bradycardia http://purl.obolibrary.org/obo/SYMP_0000231 bradycardia A bradycardia associated with the generation of impules in the ventricles when impules from the atria fail to reach them, characterized by an electrocardiogram showing a heart rate below 50 BPM and a broad QRS complex. http://purl.obolibrary.org/obo/DOID_0080965 intracranial berry aneurysm 2 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080726 Ehlers-Danlos syndrome classic type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. http://purl.obolibrary.org/obo/SYMP_0000898 cardiac fibrillation http://purl.obolibrary.org/obo/SYMP_0000287 arrhythmia An arrhythmia characterized by rapid, irregular, and unsynchronized contraction of muscle fibers within the heart. http://purl.obolibrary.org/obo/DOID_0080966 intracranial berry aneurysm 3 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0080967 intracranial berry aneurysm 4 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3. http://purl.obolibrary.org/obo/DOID_0080727 Ehlers-Danlos syndrome arthrochalasia type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/SYMP_0000899 ventricular fibrillation http://purl.obolibrary.org/obo/SYMP_0000898 cardiac fibrillation A cardiac fibrillation associated with quivering of the lower chambers of the heart, preventing blood from being pumped and causing cardiac arrest. http://purl.obolibrary.org/obo/DOID_0080968 intracranial berry aneurysm 5 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22. http://purl.obolibrary.org/obo/DOID_0080728 Ehlers-Danlos syndrome arthrochalasia type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0080501 GM1 gangliosidosis type 2 http://purl.obolibrary.org/obo/DOID_3322 GM1 gangliosidosis A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. http://purl.obolibrary.org/obo/DOID_0080969 intracranial berry aneurysm 6 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21. http://purl.obolibrary.org/obo/DOID_0080970 intracranial berry aneurysm 7 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25. http://purl.obolibrary.org/obo/DOID_0080729 brittle cornea syndrome 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. http://purl.obolibrary.org/obo/DOID_0080502 GM1 gangliosidosis type 1 http://purl.obolibrary.org/obo/DOID_3322 GM1 gangliosidosis A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. http://purl.obolibrary.org/obo/DOID_0080971 intracranial berry aneurysm 8 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0080730 Ehlers-Danlos syndrome cardiac valvular type http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0080503 multiple congenital anomalies-hypotonia-seizures syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. http://purl.obolibrary.org/obo/DOID_0080972 intracranial berry aneurysm 9 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1. http://purl.obolibrary.org/obo/DOID_0080731 Ehlers-Danlos syndrome classic-like 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0080732 Ehlers-Danlos syndrome classic-like 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. http://purl.obolibrary.org/obo/DOID_0080531 dedifferentiated liposarcoma http://purl.obolibrary.org/obo/DOID_3382 liposarcoma A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. http://purl.obolibrary.org/obo/DOID_0080973 intracranial berry aneurysm 10 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1. http://purl.obolibrary.org/obo/DOID_0080974 intracranial berry aneurysm 11 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22. http://purl.obolibrary.org/obo/DOID_0080733 Ehlers-Danlos syndrome dermatosparaxis type http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0080532 Smarca4-deficient sarcoma of thorax http://purl.obolibrary.org/obo/DOID_5093 thoracic cancer A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). http://purl.obolibrary.org/obo/DOID_0080533 Carney-Stratakis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. http://purl.obolibrary.org/obo/DOID_0080975 intracranial berry aneurysm 12 http://purl.obolibrary.org/obo/DOID_0060228 intracranial berry aneurysm An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0080534 myxofibrosarcoma http://purl.obolibrary.org/obo/DOID_1115 sarcoma A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. http://purl.obolibrary.org/obo/DOID_0080976 acute myeloid leukemia with BCR-ABL1 http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. http://purl.obolibrary.org/obo/DOID_0080977 aortic valve disease 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. http://purl.obolibrary.org/obo/DOID_0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. http://purl.obolibrary.org/obo/DOID_0080535 hypermanganesemia with dystonia http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. http://purl.obolibrary.org/obo/DOID_0080536 hypermanganesemia with dystonia 1 http://purl.obolibrary.org/obo/DOID_0080535 hypermanganesemia with dystonia A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. http://purl.obolibrary.org/obo/DOID_0080978 arthrogryposis multiplex congenita-1 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080736 Ehlers-Danlos syndrome musculocontractural type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_0080537 hypermanganesemia with dystonia 2 http://purl.obolibrary.org/obo/DOID_0080535 hypermanganesemia with dystonia A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_0080979 arthrogryposis multiplex congenita-3 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. http://purl.obolibrary.org/obo/DOID_0080737 Ehlers-Danlos syndrome musculocontractural type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_0080538 Sweeney-Cox syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. http://purl.obolibrary.org/obo/DOID_0080980 arthrogryposis multiplex congenita-4 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0080539 PEHO syndrome http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. http://purl.obolibrary.org/obo/DOID_0080981 arthrogryposis multiplex congenita-5 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. http://purl.obolibrary.org/obo/DOID_0080540 galactosialidosis http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0080740 Libman-Sacks endocarditis http://purl.obolibrary.org/obo/DOID_0060068 nonbacterial thrombotic endocarditis A nonbacterial thrombotic endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. http://purl.obolibrary.org/obo/DOID_0080982 X-linked intellectual disability-hypotonic facies syndrome-1 http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene on chromosome Xq13. This now comprises several syndromes previously reported separately, including Carpenter-Waziri syndrome, Holmes-Gang syndrome, and Smith-Fineman-Myers syndrome. http://purl.obolibrary.org/obo/DOID_0080541 hyperprolinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amno acid metabolic disorder that is characterized by the excess of proline in the blood. http://purl.obolibrary.org/obo/DOID_0080741 limbic encephalitis http://purl.obolibrary.org/obo/DOID_9588 encephalitis An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. http://purl.obolibrary.org/obo/DOID_0080984 X-linked intellectual developmental disorder 109 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. http://purl.obolibrary.org/obo/DOID_0080542 hyperprolinemia type 1 http://purl.obolibrary.org/obo/DOID_0080541 hyperprolinemia A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_0080742 autoimmune cholangitis http://purl.obolibrary.org/obo/DOID_2048 autoimmune hepatitis An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. http://purl.obolibrary.org/obo/DOID_0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. http://purl.obolibrary.org/obo/DOID_0080543 hyperprolinemia type 2 http://purl.obolibrary.org/obo/DOID_0080541 hyperprolinemia A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0080743 transverse myelitis http://purl.obolibrary.org/obo/DOID_322 myelitis A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. http://purl.obolibrary.org/obo/DOID_0080986 Ehlers-Danlos syndrome periodontal type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0111265 Boucher-Neuhauser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. http://purl.obolibrary.org/obo/DOID_0080744 antisynthetase syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. http://purl.obolibrary.org/obo/DOID_0080745 polymyositis http://purl.obolibrary.org/obo/DOID_633 myositis A myositis that is characterized by muscle weakness affecting both sides of your body. http://purl.obolibrary.org/obo/DOID_0080987 Ehlers-Danlos syndrome periodontal type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0111266 geroderma osteodysplasticum http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. http://purl.obolibrary.org/obo/DOID_0080746 Sweet syndrome http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. http://purl.obolibrary.org/obo/DOID_0080988 pretibial dystrophic epidermolysis bullosa http://purl.obolibrary.org/obo/DOID_4959 epidermolysis bullosa dystrophica An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. http://purl.obolibrary.org/obo/DOID_0111267 hyaline body myopathy http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. http://purl.obolibrary.org/obo/DOID_0080747 chronic urticaria http://purl.obolibrary.org/obo/DOID_1555 urticaria An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. http://purl.obolibrary.org/obo/DOID_0080990 King Denborough syndrome http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. http://purl.obolibrary.org/obo/DOID_0111268 autosomal recessive hyaline body myopathy http://purl.obolibrary.org/obo/DOID_0111267 hyaline body myopathy A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. http://purl.obolibrary.org/obo/DOID_0080748 chronic inducible urticaria http://purl.obolibrary.org/obo/DOID_0080747 chronic urticaria A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. http://purl.obolibrary.org/obo/DOID_0080991 congenital myopathy 1B http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. http://purl.obolibrary.org/obo/DOID_0111269 autosomal dominant hyaline body myopathy http://purl.obolibrary.org/obo/DOID_0111267 hyaline body myopathy A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. http://purl.obolibrary.org/obo/DOID_0080749 chronic spontaneous urticaria http://purl.obolibrary.org/obo/DOID_0080747 chronic urticaria A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. http://purl.obolibrary.org/obo/DOID_0080992 rhabdomyolysis-myalgia syndrome http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma. http://purl.obolibrary.org/obo/DOID_0111270 isolated sulfite oxidase deficiency http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. http://purl.obolibrary.org/obo/DOID_0080750 erythema nodosum http://purl.obolibrary.org/obo/DOID_1526 panniculitis A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. http://purl.obolibrary.org/obo/DOID_0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. http://purl.obolibrary.org/obo/DOID_0111271 Oliver-McFarlane syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans http://purl.obolibrary.org/obo/DOID_1697 ichthyosis An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. http://purl.obolibrary.org/obo/DOID_0112227 tubulinopathy http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes. http://purl.obolibrary.org/obo/DOID_0111272 occipital horn syndrome http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. http://purl.obolibrary.org/obo/DOID_0080752 keratosis pilaris atrophicans faciei http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area. http://purl.obolibrary.org/obo/DOID_0112228 lissencephaly 9 with complex brainstem malformation http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3. http://purl.obolibrary.org/obo/DOID_0111273 NARP syndrome http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. http://purl.obolibrary.org/obo/DOID_0080753 keratosis follicularis spinulosa decalvans http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. http://purl.obolibrary.org/obo/DOID_0112229 lissencephaly 10 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. http://purl.obolibrary.org/obo/DOID_0111274 CODAS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. http://purl.obolibrary.org/obo/DOID_0080754 X-linked keratosis follicularis spinulosa decalvans http://purl.obolibrary.org/obo/DOID_0080753 keratosis follicularis spinulosa decalvans A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. http://purl.obolibrary.org/obo/DOID_0112230 leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. http://purl.obolibrary.org/obo/DOID_0111275 speech-language disorder-1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. http://purl.obolibrary.org/obo/DOID_0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. http://purl.obolibrary.org/obo/DOID_0111277 mitochondrial trifunctional protein deficiency http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy. http://purl.obolibrary.org/obo/DOID_0080755 autosomal dominant keratosis follicularis spinulosa decalvans http://purl.obolibrary.org/obo/DOID_0080753 keratosis follicularis spinulosa decalvans A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0112231 lissencephaly 7 with cerebellar hypoplasia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. http://purl.obolibrary.org/obo/DOID_0111278 histiocytosis-lymphadenopathy plus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. http://purl.obolibrary.org/obo/DOID_0080756 atrophoderma vermiculata http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. http://purl.obolibrary.org/obo/DOID_0112232 lissencephaly 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12. http://purl.obolibrary.org/obo/DOID_0112233 lissencephaly 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. http://purl.obolibrary.org/obo/DOID_0080642 Middle East respiratory syndrome http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli). http://purl.obolibrary.org/obo/DOID_0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. http://purl.obolibrary.org/obo/DOID_0080757 Fanconi renotubular syndrome 1 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0080758 Fanconi renotubular syndrome 2 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0112234 microlissencephaly http://purl.obolibrary.org/obo/DOID_0050453 lissencephaly A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly. http://purl.obolibrary.org/obo/DOID_0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. http://purl.obolibrary.org/obo/DOID_0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. http://purl.obolibrary.org/obo/DOID_0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. http://purl.obolibrary.org/obo/DOID_0080759 Fanconi renotubular syndrome 3 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_0112235 lissencephaly 4 http://purl.obolibrary.org/obo/DOID_0112234 microlissencephaly A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. http://purl.obolibrary.org/obo/DOID_0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. http://purl.obolibrary.org/obo/DOID_0080760 Fanconi renotubular syndrome 4 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0080761 Fanconi renotubular syndrome 5 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_0112236 lissencephaly 6 http://purl.obolibrary.org/obo/DOID_0112234 microlissencephaly A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_0080648 B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). http://purl.obolibrary.org/obo/DOID_0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z http://purl.obolibrary.org/obo/DOID_0110274 autosomal recessive limb-girdle muscular dystrophy An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_0112238 X-linked lissencephaly 2 http://purl.obolibrary.org/obo/DOID_0050735 X-linked monogenic disease A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. http://purl.obolibrary.org/obo/DOID_0080649 B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. http://purl.obolibrary.org/obo/DOID_0080763 diffuse gastric cancer http://purl.obolibrary.org/obo/DOID_10534 stomach cancer A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. http://purl.obolibrary.org/obo/DOID_0112239 X-linked lissencephaly 1 http://purl.obolibrary.org/obo/DOID_0050735 X-linked monogenic disease A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. http://purl.obolibrary.org/obo/DOID_0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion. http://purl.obolibrary.org/obo/DOID_0080764 hereditary diffuse gastric cancer http://purl.obolibrary.org/obo/DOID_0080763 diffuse gastric cancer A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. http://purl.obolibrary.org/obo/DOID_0112240 Leber congenital amaurosis with early-onset deafness http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_0080765 autosomal recessive intellectual developmental disorder 72 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0112241 multiple benign circumferential skin creases on limbs http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. http://purl.obolibrary.org/obo/DOID_0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0112242 congenital symmetric circumferential skin creases 1 http://purl.obolibrary.org/obo/DOID_0112241 multiple benign circumferential skin creases on limbs A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_0111932 severe congenital encephalopathy due to MECP2 mutation http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0112243 congenital symmetric circumferential skin creases 2 http://purl.obolibrary.org/obo/DOID_0112241 multiple benign circumferential skin creases on limbs A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. http://purl.obolibrary.org/obo/DOID_0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. http://purl.obolibrary.org/obo/DOID_0111933 phosphoglycerate kinase 1 deficiency http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0112244 alopecia, neurologic defects, and endocrinopathy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. http://purl.obolibrary.org/obo/DOID_0111934 immunodeficiency 38 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_0112246 glutaric acidemia type 3 http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1. http://purl.obolibrary.org/obo/DOID_0080810 acute asthma http://purl.obolibrary.org/obo/DOID_2841 asthma An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment. http://purl.obolibrary.org/obo/DOID_0111935 immunodeficiency 16 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency http://purl.obolibrary.org/obo/DOID_3765 pseudohermaphroditism A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0080811 extrinsic asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. http://purl.obolibrary.org/obo/DOID_0111936 immunodeficiency 14 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. http://purl.obolibrary.org/obo/DOID_0112249 GAPO syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. http://purl.obolibrary.org/obo/DOID_0080781 benign exocrine pancreas neoplasm http://purl.obolibrary.org/obo/DOID_0060089 endocrine organ benign neoplasm An endocrine organ benign neoplasm arising from the exocrine pancreas. http://purl.obolibrary.org/obo/DOID_0111937 immunodeficiency 22 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. http://purl.obolibrary.org/obo/DOID_0112250 Gaucher's disease type IIIC http://purl.obolibrary.org/obo/DOID_0110959 Gaucher's disease type III A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0080782 mucinous pancreas adenocarcinoma http://purl.obolibrary.org/obo/DOID_4074 pancreatic adenocarcinoma A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. http://purl.obolibrary.org/obo/DOID_0111938 immunodeficiency 24 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. http://purl.obolibrary.org/obo/DOID_0112251 Ghosal hematodiaphyseal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0080784 urinary tract infection http://purl.obolibrary.org/obo/DOID_18 urinary system disease An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra. http://purl.obolibrary.org/obo/DOID_0111939 immunodeficiency 37 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. http://purl.obolibrary.org/obo/DOID_0112252 congenital nonspherocytic hemolytic anemia 6 http://purl.obolibrary.org/obo/DOID_0080699 glutathione synthetase deficiency A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. http://purl.obolibrary.org/obo/DOID_0080785 Brown-Vialetto-Van Laere syndrome 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_0111940 immunodeficiency 42 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_0112253 combined cellular and humoral immune defects with granulomas http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. http://purl.obolibrary.org/obo/DOID_0080786 Brown-Vialetto-Van Laere syndrome 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_0111941 immunodeficiency 20 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. http://purl.obolibrary.org/obo/DOID_0112255 homocystinuria-megaloblastic anemia cblE type http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. http://purl.obolibrary.org/obo/DOID_0080787 proximal symphalangism 1 http://purl.obolibrary.org/obo/DOID_0050788 proximal symphalangism A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0111942 immunodeficiency 25 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. http://purl.obolibrary.org/obo/DOID_0112256 homocystinuria-megaloblastic anemia cblG type http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. http://purl.obolibrary.org/obo/DOID_0080788 proximal symphalangism 2 http://purl.obolibrary.org/obo/DOID_0050788 proximal symphalangism A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_0111943 immunodeficiency 48 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/DOID_0112257 hydroxykynureninuria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. http://purl.obolibrary.org/obo/DOID_0080789 Treacher Collins syndrome 1 http://purl.obolibrary.org/obo/DOID_2908 Treacher Collins syndrome A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_0111944 immunodeficiency 31B http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/DOID_0112258 N-acetylglutamate synthase deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_0080790 Treacher Collins syndrome 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_0111945 immunodeficiency 31A http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/DOID_0112259 Leydig cell hypoplasia http://purl.obolibrary.org/obo/DOID_3765 pseudohermaphroditism A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/DOID_0080791 Treacher Collins syndrome 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0080792 Treacher Collins syndrome 4 http://purl.obolibrary.org/obo/DOID_2908 Treacher Collins syndrome A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. http://purl.obolibrary.org/obo/DOID_0111946 immunodeficiency 31C http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/DOID_0111947 immunodeficiency 21 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. http://purl.obolibrary.org/obo/DOID_0111948 immunodeficiency 46 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_0112260 Leydig cell hypoplasia type I http://purl.obolibrary.org/obo/DOID_0112259 Leydig cell hypoplasia A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/DOID_0080794 childhood acute megakaryoblastic leukemia http://purl.obolibrary.org/obo/DOID_8761 acute megakaryocytic leukemia An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. http://purl.obolibrary.org/obo/DOID_0111949 immunodeficiency 36 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_0112261 Leydig cell hypoplasia type II http://purl.obolibrary.org/obo/DOID_0112259 Leydig cell hypoplasia A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/DOID_0080795 acute basophilic leukemia http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia that is characterized by primary differentiation to basophils. http://purl.obolibrary.org/obo/DOID_0111950 immunodeficiency 29 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. http://purl.obolibrary.org/obo/DOID_0112262 leucine-sensitive hypoglycemia of infancy http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1. http://purl.obolibrary.org/obo/DOID_0080796 core binding factor acute myeloid leukemia http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. http://purl.obolibrary.org/obo/DOID_0111951 immunodeficiency 40 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. http://purl.obolibrary.org/obo/DOID_0112263 hypoinsulinemic hypoglycemia with hemihypertrophy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_0080797 nasal type extranodal NK/T-cell lymphoma http://purl.obolibrary.org/obo/DOID_10811 nasal cavity cancer A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. http://purl.obolibrary.org/obo/DOID_0111952 immunodeficiency 57 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. http://purl.obolibrary.org/obo/DOID_0112264 Woodhouse-Sakati syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/DOID_0080798 myeloid leukemia associated with Down Syndrome http://purl.obolibrary.org/obo/DOID_8761 acute megakaryocytic leukemia An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. http://purl.obolibrary.org/obo/DOID_0111953 immunodeficiency 23 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. http://purl.obolibrary.org/obo/DOID_0112265 iminoglycinuria http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_0080799 sinonasal undifferentiated carcinoma http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. http://purl.obolibrary.org/obo/DOID_0111954 immunodeficiency 60 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_0112266 nephrotic syndrome type 23 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. http://purl.obolibrary.org/obo/DOID_0080800 salivary gland mucinous adenocarcinoma http://purl.obolibrary.org/obo/DOID_0050904 salivary gland carcinoma A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. http://purl.obolibrary.org/obo/DOID_0111955 immunodeficiency 27A http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. http://purl.obolibrary.org/obo/DOID_0112267 nephrotic syndrome type 21 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. http://purl.obolibrary.org/obo/DOID_0080801 autosomal dominant craniometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080033 craniometaphyseal dysplasia A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_0111956 immunodeficiency 27B http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. http://purl.obolibrary.org/obo/DOID_0112268 nephrotic syndrome type 22 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. http://purl.obolibrary.org/obo/DOID_0080802 autosomal recessive craniometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080033 craniometaphyseal dysplasia A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_0111957 immunodeficiency 11A http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. http://purl.obolibrary.org/obo/DOID_0112269 primary ovarian insufficiency 18 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. http://purl.obolibrary.org/obo/DOID_0080803 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_0111958 immunodeficiency 11B http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. http://purl.obolibrary.org/obo/DOID_0112270 spermatogenic failure 52 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. http://purl.obolibrary.org/obo/DOID_0112271 spermatogenic failure 49 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. http://purl.obolibrary.org/obo/DOID_0112272 spermatogenic failure 50 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1. http://purl.obolibrary.org/obo/DOID_0080804 cranioectodermal dysplasia 2 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. http://purl.obolibrary.org/obo/DOID_0111959 immunodeficiency 15B http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_0080805 cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_0080806 cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. http://purl.obolibrary.org/obo/DOID_0080807 autosomal dominant craniodiaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080032 craniodiaphyseal dysplasia A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0080808 mammary analogue secretory carcinoma http://purl.obolibrary.org/obo/DOID_0050904 salivary gland carcinoma A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. http://purl.obolibrary.org/obo/DOID_0080812 intermittent asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. http://purl.obolibrary.org/obo/DOID_0112273 spermatogenic failure 51 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33. http://purl.obolibrary.org/obo/DOID_0111960 immunodeficiency 15A http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_0111961 immunodeficiency 26 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. http://purl.obolibrary.org/obo/DOID_0111963 dendritic cell deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells. http://purl.obolibrary.org/obo/DOID_0080813 persistent mild asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. http://purl.obolibrary.org/obo/DOID_0112274 X-linked spermatogenic failure 3 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. http://purl.obolibrary.org/obo/DOID_0111964 B cell and dendritic cell deficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. http://purl.obolibrary.org/obo/DOID_0112275 developmental and epileptic encephalopathy 93 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells. http://purl.obolibrary.org/obo/DOID_0080814 persistent moderate asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. http://purl.obolibrary.org/obo/DOID_0112276 neurodevelopmental disorder with involuntary movements http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13. http://purl.obolibrary.org/obo/DOID_0112277 immunodeficiency 79 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0080815 childhood-onset asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by first presentation in early childhood. http://purl.obolibrary.org/obo/DOID_0111966 monocyte, dendritic cell, and NK cell deficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells. http://purl.obolibrary.org/obo/DOID_0112278 primary ovarian insufficiency 19 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0080816 adult-onset severe asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by first presentation in adulthood. http://purl.obolibrary.org/obo/DOID_0111967 immunodeficiency 54 http://purl.obolibrary.org/obo/DOID_0080709 NK cell deficiency A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. http://purl.obolibrary.org/obo/DOID_0080817 T2-high asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. http://purl.obolibrary.org/obo/DOID_0112279 spermatogenic failure 53 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_0080818 T2-low asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. http://purl.obolibrary.org/obo/DOID_0111968 immunodeficiency 41 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. http://purl.obolibrary.org/obo/DOID_0112282 spondyloepiphyseal dysplasia Kimberley type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_0080819 environmentally induced asthma http://purl.obolibrary.org/obo/DOID_9360 intrinsic asthma An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter. http://purl.obolibrary.org/obo/DOID_0111969 immunodeficiency 39 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_0112283 spondyloepiphyseal dysplasia Kondo-Fu type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. http://purl.obolibrary.org/obo/DOID_0080820 occupational asthma http://purl.obolibrary.org/obo/DOID_0080819 environmentally induced asthma An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace. http://purl.obolibrary.org/obo/DOID_0111970 immunodeficiency 10 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth. http://purl.obolibrary.org/obo/DOID_0080821 exercise-induced bronchoconstriction http://purl.obolibrary.org/obo/DOID_9360 intrinsic asthma An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise. http://purl.obolibrary.org/obo/DOID_0111971 immunodeficiency 18 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_0112285 autosomal dominant spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0080822 aspirin-induced respiratory disease http://purl.obolibrary.org/obo/DOID_9360 intrinsic asthma An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs. http://purl.obolibrary.org/obo/DOID_0111972 immunodeficiency 19 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma. http://purl.obolibrary.org/obo/DOID_0080823 near-fatal asthma http://purl.obolibrary.org/obo/DOID_0080810 acute asthma An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. http://purl.obolibrary.org/obo/DOID_0111973 immunodeficiency 17 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. http://purl.obolibrary.org/obo/DOID_0080824 persistent severe asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. http://purl.obolibrary.org/obo/DOID_0111974 immunodeficiency 59 http://purl.obolibrary.org/obo/DOID_0111964 B cell and dendritic cell deficiency A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_0112288 spondyloepiphyseal dysplasia Nishimura type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0080825 thunderstorm triggered asthma http://purl.obolibrary.org/obo/DOID_9415 allergic asthma An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen. http://purl.obolibrary.org/obo/DOID_0111975 immunodeficiency 44 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. http://purl.obolibrary.org/obo/DOID_0112289 spondyloepiphyseal dysplasia tarda with characteristic facies http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. http://purl.obolibrary.org/obo/DOID_0080826 nocturnal asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. http://purl.obolibrary.org/obo/DOID_0111976 immunodeficiency 9 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. http://purl.obolibrary.org/obo/DOID_0112060 Raynaud-Claes syndrome http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_0111977 immunodeficiency 7 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/DOID_0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. http://purl.obolibrary.org/obo/DOID_0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. http://purl.obolibrary.org/obo/DOID_0111978 immunodeficiency 65 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_0111979 immunodeficiency 49 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. http://purl.obolibrary.org/obo/DOID_0111980 immunodeficiency 64 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_0112292 spondyloepiphyseal dysplasia tarda with impaired intellectual development http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. http://purl.obolibrary.org/obo/DOID_0111981 immunodeficiency 43 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. http://purl.obolibrary.org/obo/DOID_0112063 X-Linked immunodeficiency 74 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_0112293 autosomal recessive spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. http://purl.obolibrary.org/obo/DOID_0111982 immunodeficiency 56 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. http://purl.obolibrary.org/obo/DOID_0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. http://purl.obolibrary.org/obo/DOID_0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and impaired intellectual development http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. http://purl.obolibrary.org/obo/DOID_0111983 immunodeficiency 52 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency http://purl.obolibrary.org/obo/DOID_0060536 mitochondrial complex I deficiency A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. http://purl.obolibrary.org/obo/DOID_0111984 immunodeficiency 58 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0112066 nuclear type mitochondrial complex I deficiency 6 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_0112296 spondylometaphyseal dysplasia Algerian type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0111985 immunodeficiency 32B http://purl.obolibrary.org/obo/DOID_0111966 monocyte, dendritic cell, and NK cell deficiency A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/DOID_0112067 nuclear type mitochondrial complex I deficiency 25 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. http://purl.obolibrary.org/obo/DOID_0112297 spondylometaphyseal dysplasia corner fracture type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_0111986 immunodeficiency 32A http://purl.obolibrary.org/obo/DOID_0111963 dendritic cell deficiency A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/DOID_0112068 nuclear type mitochondrial complex I deficiency 5 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. http://purl.obolibrary.org/obo/DOID_0112298 spondylometaphyseal dysplasia Sedaghatian type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0111987 immunodeficiency 13 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. http://purl.obolibrary.org/obo/DOID_0112069 nuclear type mitochondrial complex I deficiency 22 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. http://purl.obolibrary.org/obo/DOID_0112299 axial spondylometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_0111988 immunodeficiency 12 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. http://purl.obolibrary.org/obo/DOID_0112070 nuclear type mitochondrial complex I deficiency 18 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. http://purl.obolibrary.org/obo/DOID_0112300 spondylometaphyseal dysplasia with cone-rod dystrophy http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_0111989 immunodeficiency 35 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_0112071 nuclear type mitochondrial complex I deficiency 31 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. http://purl.obolibrary.org/obo/DOID_0112072 nuclear type mitochondrial complex I deficiency 20 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. http://purl.obolibrary.org/obo/DOID_0112301 spondylometaphyseal dysplasia type A4 http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. http://purl.obolibrary.org/obo/DOID_0111990 immunodeficiency 30 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_0112073 nuclear type mitochondrial complex I deficiency 9 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_0112302 spondylometaphyseal dysplasia East African type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies. http://purl.obolibrary.org/obo/DOID_0112303 spondylometaphyseal dysplasia with corneal dystrophy http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/DOID_0111991 immunodeficiency 62 http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_0112074 nuclear type mitochondrial complex I deficiency 1 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/DOID_0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0111992 immunodeficiency 53 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/DOID_0111993 immunodeficiency 55 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. http://purl.obolibrary.org/obo/DOID_0112075 nuclear type mitochondrial complex I deficiency 10 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. http://purl.obolibrary.org/obo/DOID_0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism http://purl.obolibrary.org/obo/DOID_0112295 spondylometaphyseal dysplasia A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. http://purl.obolibrary.org/obo/DOID_0111994 immunodeficiency 45 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. http://purl.obolibrary.org/obo/DOID_0112076 nuclear type mitochondrial complex I deficiency 13 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. http://purl.obolibrary.org/obo/DOID_0112306 Mahvash Disease http://purl.obolibrary.org/obo/DOID_1428 endocrine pancreas disease An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0111995 immunodeficiency 28 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. http://purl.obolibrary.org/obo/DOID_0112077 nuclear type mitochondrial complex I deficiency 15 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1. http://purl.obolibrary.org/obo/DOID_0112307 sarcosinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2. http://purl.obolibrary.org/obo/DOID_0111996 immunodeficiency 51 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. http://purl.obolibrary.org/obo/DOID_0112078 nuclear type mitochondrial complex I deficiency 17 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_0080995 tuberculous encephalopathy http://purl.obolibrary.org/obo/DOID_399 tuberculosis A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state. http://purl.obolibrary.org/obo/DOID_0111997 immunodeficiency 63 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. http://purl.obolibrary.org/obo/DOID_0112079 nuclear type mitochondrial complex I deficiency 24 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. http://purl.obolibrary.org/obo/DOID_0080996 diffuse large B-cell lymphoma activated B-cell type http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. http://purl.obolibrary.org/obo/DOID_0111998 immunodeficiency 66 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. http://purl.obolibrary.org/obo/DOID_0112080 nuclear type mitochondrial complex I deficiency 32 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/DOID_0080997 diffuse large B-cell lymphoma germinal center B-cell type http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. http://purl.obolibrary.org/obo/DOID_0080998 acute necrotizing pancreatitis http://purl.obolibrary.org/obo/DOID_2913 acute pancreatitis An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. http://purl.obolibrary.org/obo/DOID_0111999 immunodeficiency 61 http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/DOID_0112081 nuclear type mitochondrial complex I deficiency 8 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_0080999 acute hemorrhagic pancreatitis http://purl.obolibrary.org/obo/DOID_2913 acute pancreatitis An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. http://purl.obolibrary.org/obo/DOID_0112000 immunodeficiency 34 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. http://purl.obolibrary.org/obo/DOID_0112082 nuclear type mitochondrial complex I deficiency 4 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0081000 Cowden syndrome 4 http://purl.obolibrary.org/obo/DOID_6457 Cowden syndrome A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. http://purl.obolibrary.org/obo/DOID_0112001 immunodeficiency 50 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. http://purl.obolibrary.org/obo/DOID_0112083 nuclear type mitochondrial complex I deficiency 2 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0081003 Cowden syndrome 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_0112002 immunodeficiency 47 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0112084 nuclear type mitochondrial complex I deficiency 29 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_0081005 parsley allergy http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy A vegetable allergy triggered by parsley (Petroselinum). http://purl.obolibrary.org/obo/DOID_0112003 immunodeficiency 33 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0112085 nuclear type mitochondrial complex I deficiency 19 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2. http://purl.obolibrary.org/obo/DOID_0081006 dill allergy http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy A food allergy triggered by dill (Anethum graveolens). http://purl.obolibrary.org/obo/DOID_0081007 RNASET2-deficient cystic leukoencephalopathy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. http://purl.obolibrary.org/obo/DOID_0112004 immunodeficiency 71 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. http://purl.obolibrary.org/obo/DOID_0112086 nuclear type mitochondrial complex I deficiency 26 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. http://purl.obolibrary.org/obo/DOID_0081008 Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0112005 immunodeficiency 70 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/DOID_0112087 nuclear type mitochondrial complex I deficiency 23 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. http://purl.obolibrary.org/obo/DOID_0081010 Bardet-Biedl syndrome 21 http://purl.obolibrary.org/obo/DOID_1935 Bardet-Biedl syndrome A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_0112006 immunodeficiency 69 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. http://purl.obolibrary.org/obo/DOID_0112088 nuclear type mitochondrial complex I deficiency 21 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_0081011 Bardet-Biedl syndrome 22 http://purl.obolibrary.org/obo/DOID_1935 Bardet-Biedl syndrome A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. http://purl.obolibrary.org/obo/DOID_0081012 critical COVID-19 http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. http://purl.obolibrary.org/obo/DOID_0112007 growth hormone secreting pituitary adenoma 2 http://purl.obolibrary.org/obo/DOID_6255 growth hormone secreting pituitary adenoma A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. http://purl.obolibrary.org/obo/DOID_0112089 nuclear type mitochondrial complex I deficiency 11 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1. http://purl.obolibrary.org/obo/DOID_0081013 severe COVID-19 http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. http://purl.obolibrary.org/obo/DOID_0112008 pituitary adenoma 5 http://purl.obolibrary.org/obo/DOID_3829 pituitary adenoma A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/DOID_0112090 nuclear type mitochondrial complex I deficiency 27 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. http://purl.obolibrary.org/obo/DOID_0081014 non-severe COVID-19 http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. http://purl.obolibrary.org/obo/DOID_0112009 pituitary adenoma 1 http://purl.obolibrary.org/obo/DOID_3829 pituitary adenoma A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0112091 nuclear type mitochondrial complex I deficiency 34 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0081015 congenital fibrosis of the extraocular muscles 1 http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. http://purl.obolibrary.org/obo/DOID_0112010 pituitary adenoma 3 http://purl.obolibrary.org/obo/DOID_3829 pituitary adenoma A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. http://purl.obolibrary.org/obo/DOID_0112092 nuclear type mitochondrial complex I deficiency 7 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. http://purl.obolibrary.org/obo/DOID_0081016 congenital fibrosis of the extraocular muscles 2 http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques http://purl.obolibrary.org/obo/DOID_161 keratosis A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. http://purl.obolibrary.org/obo/DOID_0112093 nuclear type mitochondrial complex I deficiency 3 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0081017 congenital fibrosis of the extraocular muscles 3A http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques http://purl.obolibrary.org/obo/DOID_0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/DOID_0112094 nuclear type mitochondrial complex I deficiency 14 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0081019 congenital fibrosis of the extraocular muscles 3C http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). http://purl.obolibrary.org/obo/DOID_0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques http://purl.obolibrary.org/obo/DOID_0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0112095 nuclear type mitochondrial complex I deficiency 28 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_0081020 congenital fibrosis of the extraocular muscles 5 http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. http://purl.obolibrary.org/obo/DOID_0080766 erythrokeratodermia variabilis et progressiva 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0112096 nuclear type mitochondrial complex I deficiency 16 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. http://purl.obolibrary.org/obo/DOID_0081021 Tukel syndrome http://purl.obolibrary.org/obo/DOID_0080143 congenital fibrosis of the extraocular muscles A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. http://purl.obolibrary.org/obo/DOID_0081022 cone dystrophy with supernormal rod responses http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_0081023 retinal cone dystrophy 4 http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0081024 retinal cone dystrophy 1 http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. http://purl.obolibrary.org/obo/DOID_0081025 achromatopsia 6 http://purl.obolibrary.org/obo/DOID_0050795 cone dystrophy A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H) on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0080767 autoimmune myocarditis http://purl.obolibrary.org/obo/DOID_0060051 autoimmune disease of cardiovascular system An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. http://purl.obolibrary.org/obo/DOID_0112097 nuclear type mitochondrial complex I deficiency 33 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_0081026 benign peritoneal solitary fibrous tumor http://purl.obolibrary.org/obo/DOID_0060117 peritoneal benign neoplasm A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. http://purl.obolibrary.org/obo/DOID_0080768 pyridoxine-dependent epilepsy http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. http://purl.obolibrary.org/obo/DOID_0112098 nuclear type mitochondrial complex I deficiency 30 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. http://purl.obolibrary.org/obo/DOID_0080769 early-onset vitamin B6-dependent epilepsy 1 http://purl.obolibrary.org/obo/DOID_0080768 pyridoxine-dependent epilepsy A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. http://purl.obolibrary.org/obo/DOID_0112099 nuclear type mitochondrial complex I deficiency 12 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. http://purl.obolibrary.org/obo/DOID_0080770 autosomal dominant beta thalassemia http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. http://purl.obolibrary.org/obo/DOID_0112100 mitochondrial type mitochondrial complex I deficiency http://purl.obolibrary.org/obo/DOID_0060536 mitochondrial complex I deficiency A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome. http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by abnormalities in the small blood vessels in the brain. http://purl.obolibrary.org/obo/DOID_0080771 beta-thalassemia major http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. http://purl.obolibrary.org/obo/DOID_0112101 mitochondrial type mitochondrial complex I deficiency 1 http://purl.obolibrary.org/obo/DOID_0112100 mitochondrial type mitochondrial complex I deficiency A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome. http://purl.obolibrary.org/obo/DOID_0112314 autosomal dominant brain small vessel disease 2A http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease A brain small vessel disease characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_0080772 beta-thalassemia intermedia http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. http://purl.obolibrary.org/obo/DOID_0070374 leukoencephalopathy with vanishing white matter 1 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0112315 brain small vessel disease 3 http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_0080773 delta beta-thalassemia http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. http://purl.obolibrary.org/obo/DOID_0081422 familial focal epilepsy with variable foci 2 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0112316 methemoglobinemia and ambiguous genitalia http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. http://purl.obolibrary.org/obo/DOID_0080774 thalassemia minor http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia. http://purl.obolibrary.org/obo/DOID_0081429 autosomal recessive distal hereditary motor neuronopathy 10 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_0080775 complete androgen insensitivity syndrome http://purl.obolibrary.org/obo/DOID_4674 androgen insensitivity syndrome An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. http://purl.obolibrary.org/obo/DOID_0081403 BCOR ITD sarcoma http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. http://purl.obolibrary.org/obo/DOID_0112318 Schindler disease type 1 http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_0080776 partial androgen insensitivity syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. http://purl.obolibrary.org/obo/DOID_0081412 B-lymphoblastic leukemia with DUX4 rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. http://purl.obolibrary.org/obo/DOID_0112319 Kanzaki disease http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0080777 lung sarcomatoid carcinoma http://purl.obolibrary.org/obo/DOID_3905 lung carcinoma A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. http://purl.obolibrary.org/obo/DOID_0081405 childhood sarcoma with BCOR genetic alterations http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations A sarcoma with BCOR genetic alterations that occurs during childhood. http://purl.obolibrary.org/obo/DOID_0112320 Schindler disease type 3 http://purl.obolibrary.org/obo/DOID_0112317 Schindler disease A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_0080778 transient infantile liver failure http://purl.obolibrary.org/obo/DOID_409 liver disease A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0081410 round cell sarcoma with FUS-NFATC2 gene fusion http://purl.obolibrary.org/obo/DOID_0081406 round cell sarcoma with EWSR1-non-ETS fusion A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. http://purl.obolibrary.org/obo/DOID_0112321 alacrima, achalasia, and impaired intellectual development syndrome http://purl.obolibrary.org/obo/DOID_5212 congenital disorder of glycosylation A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. http://purl.obolibrary.org/obo/SYMP_0020013 abnormal weight loss http://purl.obolibrary.org/obo/SYMP_0000178 weight loss A weight loss that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying. http://purl.obolibrary.org/obo/DOID_0070604 autosomal dominant nonsyndromic deafness 84 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. http://purl.obolibrary.org/obo/SYMP_0020014 chronic weight loss http://purl.obolibrary.org/obo/SYMP_0000178 weight loss A weight loss that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both. http://purl.obolibrary.org/obo/DOID_0060985 preaxial polydactyly type IV http://purl.obolibrary.org/obo/DOID_1148 polydactyly A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14. http://purl.obolibrary.org/obo/DOID_0112323 pontocerebellar hypoplasia type 1D http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. http://purl.obolibrary.org/obo/DOID_0112324 pontocerebellar hypoplasia type 11 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. http://purl.obolibrary.org/obo/DOID_0112325 pontocerebellar hypoplasia type 14 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. http://purl.obolibrary.org/obo/SYMP_0020016 acute weight gain http://purl.obolibrary.org/obo/SYMP_0000403 weight gain A weight gain that is characterized by a severe and sudden onset. http://purl.obolibrary.org/obo/DOID_0070609 autosomal dominant nonsyndromic deafness 83 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_0112326 pontocerebellar hypoplasia type 15 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. http://purl.obolibrary.org/obo/SYMP_0020017 chronic weight gain http://purl.obolibrary.org/obo/SYMP_0000403 weight gain A weight gain that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both. http://purl.obolibrary.org/obo/DOID_0061237 aggressive periodontitis 1 http://purl.obolibrary.org/obo/DOID_1474 aggressive periodontitis A periodontitis that has_material_basis_in homozygous mutation in the CTSC gene on chromosome 11q14. http://purl.obolibrary.org/obo/DOID_0112327 pontocerebellar hypoplasia type 12 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/SYMP_0020018 overweight http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by being too heavy for one’s height. Excess body weight can come from fat, muscle, bone, and/or water retention. Being overweight does not always mean being obese. http://purl.obolibrary.org/obo/DOID_0061238 Stargardt disease 3 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by macular pigmentary changes and yellow flecks and macular retinal pigment epithelium defects and has_material_basis_in heterozygous mutation in the ELOVL4 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_0112328 pontocerebellar hypoplasia type 2 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. http://purl.obolibrary.org/obo/SYMP_0020019 postnasal drainage http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom A nose symptom that is characterized by an an excessive secretion of mucous down the back of the throat. http://purl.obolibrary.org/obo/DOID_0061239 Stargardt disease 4 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina and has_material_basis_in heterozygous mutation in the prominin-1 gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_0112329 pontocerebellar hypoplasia type 2F http://purl.obolibrary.org/obo/DOID_0112328 pontocerebellar hypoplasia type 2 A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/DOID_0070568 spermatogenic failure 69 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_0061240 Stargardt disease 5 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by onset of macular dystrophy in the fifth decade of life, with mildly reduced visual acuity and normal amplitudes on electroretinography and has_material_basis_in homozygous mutation in the RDH8 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0112330 pontocerebellar hypoplasia type 1E http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. http://purl.obolibrary.org/obo/DOID_0060992 bent bone dysplasia syndrome 1 http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_0061241 Stargardt disease 1 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by juvenile-onset macular dystrophy with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks, defined as lipofuscin deposits, around the macula and/or in the central and near-peripheral areas of the retina and has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. http://purl.obolibrary.org/obo/DOID_0112331 pontocerebellar hypoplasia type 1F http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. http://purl.obolibrary.org/obo/DOID_0061242 glucocorticoid deficiency 2 http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the MRAP gene, encoding melanocortin-2 receptor accessory protein, on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0112332 pontocerebellar hypoplasia type 13 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/DOID_0061023 nonphotosensitive trichothiodystrophy 8 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_0061243 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NNT gene on chromosome 5p12. http://purl.obolibrary.org/obo/DOID_0112333 pontocerebellar hypoplasia type 16 http://purl.obolibrary.org/obo/DOID_0060264 pontocerebellar hypoplasia A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. http://purl.obolibrary.org/obo/DOID_0070635 cardiovascular-kidney-metabolic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity. http://purl.obolibrary.org/obo/DOID_0061244 glucocorticoid deficiency 5 http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the TXNRD2 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_0112334 pontocerebellar hypoplasia type 1C http://purl.obolibrary.org/obo/DOID_0112322 pontocerebellar hypoplasia type 1 A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. http://purl.obolibrary.org/obo/SYMP_0000007 bleeding http://purl.obolibrary.org/obo/SYMP_0000567 general symptom A general symptom that is characterized as an act, instance, or result of being bled or the process by which something is bled: as a the escape of blood from vessels. http://purl.obolibrary.org/obo/DOID_0061245 periventricular nodular heterotopia 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development that has_material_basis_in heterozygous mutation in the ARF1 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_0112335 spermatogenic failure 54 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35. http://purl.obolibrary.org/obo/SYMP_0000009 blister http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by a fluid-filled elevation of the epidermis. http://purl.obolibrary.org/obo/DOID_0061246 periventricular nodular heterotopia 9 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A periventricular nodular heterotopia characterized as a malformation of cortical development that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_0112336 spermatogenic failure 56 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/SYMP_0000022 depression http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a chronic feeling of emptiness, sadness, or inability to feel pleasure that may appear to happen for no clear reason. Additionally one may experience feelings of hopelessness, pessimism, irritability, frustration, or restlessness, guilt, worthlessness and thoughts of death or suicide. http://purl.obolibrary.org/obo/DOID_0070668 Snijders Blok-Campeau syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that has_material_basis_in heterozygous mutation in the CHD3 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0112337 spermatogenic failure 55 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12. http://purl.obolibrary.org/obo/SYMP_0000025 dry cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a lack of accompanied phlegm production. http://purl.obolibrary.org/obo/SYMP_0000327 tetanic convulsion http://purl.obolibrary.org/obo/SYMP_0000596 convulsion A convulsion that is characterized by a tonic spasm (prolonged contraction of the muscles), without loss of consciousness and often associated with hypocalcemia. http://purl.obolibrary.org/obo/DOID_0112338 spermatogenic failure 57 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. http://purl.obolibrary.org/obo/SYMP_0000040 hematuria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the presence of blood or blood cells in the urine. http://purl.obolibrary.org/obo/DOID_0060901 lymphoplasmacytic lymphoma http://purl.obolibrary.org/obo/DOID_707 B-cell lymphoma A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. http://purl.obolibrary.org/obo/DOID_0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31. http://purl.obolibrary.org/obo/SYMP_0000056 hyperpigmentation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an excess pigmentation in a bodily part or tissue, as the skin. http://purl.obolibrary.org/obo/DOID_0060902 Norman-Roberts syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. http://purl.obolibrary.org/obo/SYMP_0000061 inflammation http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Inflammation is a general symptom where there is a local response to cellular injury that is marked by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling, and often loss of function and that serves as a mechanism initiating the elimination of noxious agents and of damaged tissue. http://purl.obolibrary.org/obo/DOID_0080180 Zika virus congenital syndrome http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus (Orthoflavivirus zikaense) infection in utero. http://purl.obolibrary.org/obo/DOID_0112360 spondylocostal dysostosis 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. http://purl.obolibrary.org/obo/SYMP_0000064 joint pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a pain situated, or occurring, in or around a joint. http://purl.obolibrary.org/obo/DOID_0080181 PHARC syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. http://purl.obolibrary.org/obo/DOID_0112361 spondylocostal dysostosis 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. http://purl.obolibrary.org/obo/SYMP_0000075 lethargy http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by abnormal drowsiness. http://purl.obolibrary.org/obo/DOID_0080182 mixed fibrolamellar hepatocellular carcinoma http://purl.obolibrary.org/obo/DOID_5015 fibrolamellar carcinoma A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. http://purl.obolibrary.org/obo/DOID_0112362 spondylocostal dysostosis 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000892 sensation perception A sensation perception that is characterized by an unpleasant sensation that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual, confined to one area or spread over the entire body. http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that has_material_basis_in Coronavirus. http://purl.obolibrary.org/obo/DOID_0112363 spondylocostal dysostosis 5 http://purl.obolibrary.org/obo/DOID_0050739 autosomal genetic disease A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/SYMP_0000116 prostration http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Prostration is a general symptom characterized by complete physical or mental exhaustion. http://purl.obolibrary.org/obo/DOID_0080602 benign teratoma http://purl.obolibrary.org/obo/DOID_0080601 germ cell benign neoplasm A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. http://purl.obolibrary.org/obo/DOID_0112364 spondylocostal dysostosis 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0112365 spondylocostal dysostosis 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/SYMP_0020000 airway stenosis http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a narrowing in the airway that obstructs the passage of air into the lungs. Examples include tracheal and laryngotracheal stenosis. http://purl.obolibrary.org/obo/SYMP_0020001 apthous ulcer http://purl.obolibrary.org/obo/SYMP_0000136 skin ulcer A skin ulcer that is characterized by a small recurrent, painful, round or ovoid ulcers with well-defined erythematous margins, like a halo, and a central yellow or gray floor found in the soft tissue of the oral cavity. http://purl.obolibrary.org/obo/SYMP_0000131 severe joint pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around a joint that is intense (severe). http://purl.obolibrary.org/obo/NCIT_C163032 Botulinum Toxin http://purl.obolibrary.org/obo/CHEBI_27026 toxin A biological toxin that is botulinum toxin, caused by a toxin made by a bacterium called Clostridium botulinum. http://purl.obolibrary.org/obo/SYMP_0020004 ageusia http://purl.obolibrary.org/obo/SYMP_0000551 disturbances of sensation of smell and taste A disturbances of sensation of smell and taste that is characterized by a complete loss of taste function of the tongue. http://purl.obolibrary.org/obo/SYMP_0000136 skin ulcer http://purl.obolibrary.org/obo/SYMP_0000092 skin lesion A skin lesion that is characterized by a break in skin with loss of surface tissue, disintegration and necrosis of epithelial tissue, and often pus. http://purl.obolibrary.org/obo/SYMP_0000139 sneezing http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a sudden violent spasmodic audible expiration of breath through the nose and mouth especially as a reflex act following irritation of the nasal mucous membrane. http://purl.obolibrary.org/obo/DOID_0070368 autosomal recessive chronic granulomatous disease 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/SYMP_0020006 agitation http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a feeling of irritability or severe restlessness. http://purl.obolibrary.org/obo/SYMP_0000178 weight loss http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by a reduction of the total body mass, by a mean loss of fluid, body fat (adipose tissue), or lean mass (namely bone mineral deposits, muscle, tendon, and other connective tissue). Weight loss can either occur unintentionally because of malnourishment or an underlying disease. http://purl.obolibrary.org/obo/DOID_0081328 familial hyperinsulinemic hypoglycemia 8 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_0081336 Thomsen disease http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. http://purl.obolibrary.org/obo/SYMP_0000185 weariness http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by a feeling of exhaustion in strength, endurance, and vigor. http://purl.obolibrary.org/obo/DOID_0081331 glycogen storage disease Ic http://purl.obolibrary.org/obo/DOID_0081329 glycogen storage disease I A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. http://purl.obolibrary.org/obo/DOID_0070363 bradyopsia 1 http://purl.obolibrary.org/obo/DOID_0050335 bradyopsia A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. http://purl.obolibrary.org/obo/SYMP_0000186 exhaustion http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by a feeling of weariness (bodily or mental) or feeling of weakness. Exhaustion is a shorter-lived form of fatigue that can be experienced emotionally, mentally, and physically. http://purl.obolibrary.org/obo/DOID_0081413 renal cell carcinoma with MiT translocations http://purl.obolibrary.org/obo/DOID_4450 renal cell carcinoma A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by hypotonia and weakness, usually present from birth. http://purl.obolibrary.org/obo/SYMP_0000187 tiredness http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by a feeling of a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a sense of weariness and fatigue. http://purl.obolibrary.org/obo/DOID_0081399 autosomal dominant distal hereditary motor neuronopathy 10 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_0070521 peeling skin syndrome 2 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. http://purl.obolibrary.org/obo/SYMP_0000197 abortion http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by the expulsion of a fetus at any time before completion of pregnancy and is often due to infection. http://purl.obolibrary.org/obo/DOID_0081445 sickle cell disease http://purl.obolibrary.org/obo/DOID_620 blood protein disease A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). http://purl.obolibrary.org/obo/DOID_0081401 autosomal dominant distal hereditary motor neuronopathy 13 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. http://purl.obolibrary.org/obo/SYMP_0000198 miscarriage http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by the spontaneous expulsion of a human fetus before it is viable and especially between the 12th and 28th weeks of gestation. http://purl.obolibrary.org/obo/DOID_0081446 dimethylglycine dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH gene on chromosome 5q14. http://purl.obolibrary.org/obo/DOID_0070525 peeling skin syndrome 6 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/SYMP_0000199 spontaneous abortion http://purl.obolibrary.org/obo/SYMP_0000197 abortion An abortion that is characterized by the natural occurring expulsion of a nonviable fetus. http://purl.obolibrary.org/obo/DOID_0081447 cone-rod dystrophy 21 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_0081406 round cell sarcoma with EWSR1-non-ETS fusion http://purl.obolibrary.org/obo/DOID_3098 small cell sarcoma A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. http://purl.obolibrary.org/obo/SYMP_0000207 afebrile http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by the state of being free from fever. http://purl.obolibrary.org/obo/DOID_0070553 focal palmoplantar and gingival keratosis http://purl.obolibrary.org/obo/DOID_3390 palmoplantar keratosis A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva. http://purl.obolibrary.org/obo/DOID_0070595 X-linked spermatogenic failure 4 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1. http://purl.obolibrary.org/obo/SYMP_0000235 colic http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by the condition marked by recurrent episodes of prolonged and uncontrollable crying and irritability in an otherwise healthy infant that is of unknown cause and usually subsides after three to four months of age. http://purl.obolibrary.org/obo/DOID_0060975 polycystic liver disease 2 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_0070564 dialysis disequilibrium syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma. http://purl.obolibrary.org/obo/SYMP_0000237 congestion http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an excessive accumulation especially of blood or mucus. http://purl.obolibrary.org/obo/DOID_0060977 polycystic liver disease 4 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. http://purl.obolibrary.org/obo/SYMP_0000243 cyclic fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by occurring during periodic episodes. http://purl.obolibrary.org/obo/DOID_0070548 primary pigmented nodular adrenocortical disease 3 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3. http://purl.obolibrary.org/obo/DOID_0060986 preaxial polydactyly II http://purl.obolibrary.org/obo/DOID_1148 polydactyly A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. http://purl.obolibrary.org/obo/SYMP_0000263 epididymitis http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by an inflammation of the epididymis. http://purl.obolibrary.org/obo/DOID_0070555 Nagashima-type palmoplantar keratosis http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33. http://purl.obolibrary.org/obo/DOID_0051014 atypical autosomal dominant adult-onset demyelinating leukodystrophy http://purl.obolibrary.org/obo/DOID_0051015 adult onset demyelinating leukodystrophy An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. http://purl.obolibrary.org/obo/DOID_0051015 adult onset demyelinating leukodystrophy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. http://purl.obolibrary.org/obo/SYMP_0000264 epididymorchitis http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by inflammation of the epididymis and/or testicle (testis). http://purl.obolibrary.org/obo/SYMP_0000279 extreme exhaustion http://purl.obolibrary.org/obo/SYMP_0000186 exhaustion An exhaustion that is characterized by exceeding the ordinary, usual, or expected. http://purl.obolibrary.org/obo/DOID_0081455 auto-brewery syndrome http://purl.obolibrary.org/obo/DOID_0060158 acquired metabolic disease An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. http://purl.obolibrary.org/obo/DOID_0051016 visceral heterotaxy 1 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0051017 visceral heterotaxy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21. http://purl.obolibrary.org/obo/SYMP_0000280 extreme fatigue http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by exceeding the ordinary, usual, or expected. http://purl.obolibrary.org/obo/DOID_0081456 bladder fermentation syndrome http://purl.obolibrary.org/obo/DOID_0060158 acquired metabolic disease An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. http://purl.obolibrary.org/obo/SYMP_0000324 bronchitis http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an acute or chronic inflammation of the bronchial tubes. http://purl.obolibrary.org/obo/DOID_0051018 visceral heterotaxy 3 http://purl.obolibrary.org/obo/DOID_0050545 visceral heterotaxy A visceral heterotaxy that has been mapped to chromosome 6q21. http://purl.obolibrary.org/obo/DOID_0081457 intrathyroid thymic carcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. http://purl.obolibrary.org/obo/SYMP_0000358 premature labor http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by labor occurring before 37 full weeks of pregnancy. http://purl.obolibrary.org/obo/DOID_0051019 visceral heterotaxy 4 http://purl.obolibrary.org/obo/DOID_0050545 visceral heterotaxy A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22. http://purl.obolibrary.org/obo/SYMP_0000372 rhinorrhea http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom A nose symptom that is characterized by an excessive secretion of mucous through the nose. http://purl.obolibrary.org/obo/DOID_0081458 thyroid gland cribriform morular carcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. http://purl.obolibrary.org/obo/DOID_0051020 visceral heterotaxy 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. http://purl.obolibrary.org/obo/SYMP_0000398 vaginal discharge http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by fluid made by glands inside the vagina and cervix carrying away dead cells and bacteria. While it is normal for odor and color to vary, vaginal itching or burning may be indicative of an infection. http://purl.obolibrary.org/obo/DOID_0081461 thyroid gland spindle epithelial tumor with thymus-like elements http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. http://purl.obolibrary.org/obo/DOID_0051021 visceral heterotaxy 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26. http://purl.obolibrary.org/obo/SYMP_0000403 weight gain http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by an increase in body weight. This can involve an increase in muscle mass, fat deposits, excess fluids such as water or other factors. http://purl.obolibrary.org/obo/DOID_0060987 preaxial polydactyly I http://purl.obolibrary.org/obo/DOID_1148 polydactyly A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0051022 visceral heterotaxy 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12. http://purl.obolibrary.org/obo/SYMP_0000405 vaginismus http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by a painful spasmodic contraction of the vagina. http://purl.obolibrary.org/obo/DOID_0070601 autosomal dominant nonsyndromic deafness 37 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1. http://purl.obolibrary.org/obo/DOID_0051023 visceral heterotaxy 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21. http://purl.obolibrary.org/obo/SYMP_0000406 bruise http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an injury transmitted through unbroken skin to underlying tissue causing rupture of small blood vessels and escape of blood into the tissue with resulting discoloration. http://purl.obolibrary.org/obo/DOID_0060993 bent bone dysplasia syndrome 2 http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0051024 visceral heterotaxy 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. http://purl.obolibrary.org/obo/SYMP_0000407 syncope http://purl.obolibrary.org/obo/SYMP_0000482 alteration of consciousness An alteration of consciousness that is characterized by a loss of consciousness resulting from insufficient blood flow to the brain. http://purl.obolibrary.org/obo/DOID_0070614 chromosome 11 partial duplication syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11. http://purl.obolibrary.org/obo/DOID_0051025 visceral heterotaxy 11 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. http://purl.obolibrary.org/obo/SYMP_0000409 hyperthermia http://purl.obolibrary.org/obo/SYMP_0000882 high fever A high fever that is characterized by an exceptionally high fever especially when induced artificially for therapeutic purposes. http://purl.obolibrary.org/obo/DOID_0051092 Damseh-Danson neurodevelopmental disorder http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disability that is characterized by global developmental delay apparent from infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the SNX27 gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0051026 visceral heterotaxy 12 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11. http://purl.obolibrary.org/obo/SYMP_0000412 anxiety http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill. http://purl.obolibrary.org/obo/DOID_0051093 retinitis pigmentosa 102 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and loss of peripheral vision in adolescence, and eventual reduction in visual acuity with progression of disease and that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0051027 visceral heterotaxy 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13. http://purl.obolibrary.org/obo/SYMP_0000422 dyspepsia http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom Dyspepsia is a digestive system symptom referred to as indigestion resulting from an impairment to digestion caused by ulcer, gall bladder disease or inflamed colon. Related symptoms include weakness, loss of appetite, and depression. http://purl.obolibrary.org/obo/SYMP_0000434 urticaria http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by raised red skin wheals (welts) commonly caused by an allergic reaction with wheals that may vary in size from about 5 mm (0.2 inches) in diameter to the size of a dinner plate that are described as severely itchy a stingnig or burning sensation, and having a pale border. http://purl.obolibrary.org/obo/SYMP_0000436 abnormal vaginal bleeding http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by bleeding from the uterus that is longer than usual or that occurs at an irregular time. Bleeding may be heavier or lighter than usual and occur often or randomly. http://purl.obolibrary.org/obo/SYMP_0000440 hair loss http://purl.obolibrary.org/obo/SYMP_0020040 hair symptom A hair symptom that is characterized by the stopping of hair growth (regeneration), which may be a result of hereditary hair loss, immune system overreacts, drugs and treatments, harsh hair-care products, and other factors. http://purl.obolibrary.org/obo/SYMP_0000441 elbow pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the elbow. http://purl.obolibrary.org/obo/SYMP_0000442 knee pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the knee. http://purl.obolibrary.org/obo/DOID_0051094 retinitis pigmentosa 103 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-1 gene on chromosome 15q23. http://purl.obolibrary.org/obo/DOID_0051028 autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. http://purl.obolibrary.org/obo/SYMP_0000443 shoulder pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the shoulder. http://purl.obolibrary.org/obo/DOID_0051029 mitochondrial DNA depletion syndrome-21 http://purl.obolibrary.org/obo/DOID_0070329 mitochondrial DNA depletion syndrome A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_0051095 retinitis pigmentosa 104 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/SYMP_0000448 epistaxis http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom A nose symptom that involves a is loss of blood from the tissue lining the nose. http://purl.obolibrary.org/obo/DOID_0051030 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0051096 retinitis pigmentosa 105 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-8 gene on chromosome 14q12. http://purl.obolibrary.org/obo/SYMP_0000455 abnormal weight gain http://purl.obolibrary.org/obo/SYMP_0000403 weight gain A weight gain that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying. http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by occurring in the abdomen, i.e. between the chest and groin. http://purl.obolibrary.org/obo/DOID_0051031 primary autosomal recessive microcephaly 20 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_0051097 retinitis pigmentosa 106 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-9 gene on chromosome 19p13. http://purl.obolibrary.org/obo/SYMP_0000458 nausea http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom Nausea is a digestive system symptom characterized by an uneasy or unsettled feeling in the stomach together with an urge to vomit. http://purl.obolibrary.org/obo/DOID_0051032 primary autosomal recessive microcephaly 21 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0051098 retinitis pigmentosa 107 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of RP ranging from the second decade to the sixth decade of life, with affected individuals experiencing night blindness, constriction of peripheral vision, and reduced visual acuity and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP20 gene on chromosome 16q21. http://purl.obolibrary.org/obo/SYMP_0000475 underweight http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by weighing less than the normal amount for one's age, height, and build. http://purl.obolibrary.org/obo/DOID_0051033 primary autosomal recessive microcephaly 22 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. http://purl.obolibrary.org/obo/SYMP_0000485 dysuria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the difficult, or painful, discharge of urine. http://purl.obolibrary.org/obo/DOID_0051034 primary autosomal recessive microcephaly 23 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. http://purl.obolibrary.org/obo/SYMP_0000487 rash http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an eruption on the body typically with little or no elevation above the surface. http://purl.obolibrary.org/obo/DOID_0051035 primary autosomal recessive microcephaly 24 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom A skin and integumentary tissue symptom that is characterized by the outer layer of the skin starting to replace itself. Often, this happens when skin is damaged, either by disease or injury. http://purl.obolibrary.org/obo/DOID_0051036 primary autosomal recessive microcephaly 25 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22. http://purl.obolibrary.org/obo/SYMP_0000492 urinary incontinence http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the an inability of the body to control the evacuative functions. http://purl.obolibrary.org/obo/DOID_0051099 Paget disease of bone 7 http://purl.obolibrary.org/obo/DOID_5408 Paget disease of bone A Paget disease of bone that is characterized by persistent and long-lasting active bone resorption, resulting in severe skeletal deformities and high levels of serum alkaline phosphatase and bone turnover markers and that has_material_basis_in heterozygous mutation in the PFN1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0070758 primary ciliary dyskinesia 46 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia that has_material_basis_in homozygous mutation in the STK36 gene on chromosome 2q35. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/SYMP_0000494 renal colic http://purl.obolibrary.org/obo/SYMP_0000235 colic A colic that is characterized by a severe pain produced by the passage of a calculus from the kidney through the ureter. http://purl.obolibrary.org/obo/DOID_0051037 autosomal dominant primary microcephaly 26 http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. http://purl.obolibrary.org/obo/DOID_0070760 primary ciliary dyskinesia 47 and lissencephaly http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood and neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum, that has_material_basis_in homozygous mutation in the TP73 gene on chromosome 1p36. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/DOID_0070761 primary ciliary dyskinesia 48 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance, resulting from defects in the radial spokes and central pairs of microtubules in motile cilia that has_material_basis_in homozygous mutation in the NME5 gene on chromosome 5q31. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a pain in the head. http://purl.obolibrary.org/obo/DOID_0051038 autosomal dominant primary microcephaly 27 http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070762 primary ciliary dyskinesia 49 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance and male infertility due to defective flagellar morphology and function that has_material_basis_in compound heterozygous mutation in the CFAP74 gene on chromosome 1p36. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/SYMP_0000517 hemoptysis http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an expectoration of blood from some part of the respiratory tract. http://purl.obolibrary.org/obo/DOID_0051039 primary autosomal recessive microcephaly 28 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0070763 primary ciliary dyskinesia 50 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by chronic sinusitis, bronchitis, and male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella resulting from defects or loss of the inner dynein arms of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH7 gene on chromosome 2q32. http://purl.obolibrary.org/obo/DOID_0070764 primary ciliary dyskinesia 51 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella, chronic rhinosinusitis and bronchitis, and recurrent upper and lower respiratory infections that has_material_basis_in homozygous or compound heterozygous mutation in the BRWD1 gene on chromosome 21q22. Situs abnormalities have been reported. http://purl.obolibrary.org/obo/SYMP_0000518 generalized abdominal pain http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain An abdominal pain that is characterized by being diffuse or widespread and affecting or involving all of the abdomen. http://purl.obolibrary.org/obo/DOID_0051040 primary autosomal recessive microcephaly 29 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_0070765 primary ciliary dyskinesia 52 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects that has_material_basis_in homozygous or compound heterozygous mutation in the DAW1 gene on chromosome 2q36. http://purl.obolibrary.org/obo/SYMP_0000530 palpitation http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom Palpitation is a cardiovascykar system symptom characterized by an abnormal awareness of the beating of the heart,whether it is too slow, too fast, irregular, or at its normal frequency when excited by violent exertion, strong emotion, or disease. http://purl.obolibrary.org/obo/DOID_0051041 primary autosomal recessive microcephaly 30 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_0070766 primary ciliary dyskinesia 53 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by randomization of the left-right body asymmetry and respiratory symptoms that has_material_basis_in homozygous mutation in the CLXN gene on chromosome 8q11. http://purl.obolibrary.org/obo/SYMP_0000542 epigastric abdominal pain http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain An abdominal pain that is characterized by occurring in the epigastrium, i.e. the upper part of the abdomen below the rib cage. http://purl.obolibrary.org/obo/DOID_0061025 familial restrictive cardiomyopathy 6 http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0070767 primary ciliary dyskinesia 54 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by a mild respiratory phenotype including rhinitis, sinusitis, asthma, and bronchiectasis that has_material_basis_in compound heterozygous mutation in the CFAP54 gene on chromosome 12q23. Some abnormalities of spermatozoa have been reported, but their effect on male fertility is unclear. http://purl.obolibrary.org/obo/SYMP_0000543 memory loss http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by an unusual forgetfulness. One may not be able to remember new events, recall one or more memories of the past, or both. Memory loss may be for a short time and then resolve (transient), or it may not go away and get worse over time. http://purl.obolibrary.org/obo/DOID_0070768 peri-implant disease http://purl.obolibrary.org/obo/DOID_3388 periodontal disease A periodontal disease affecting the structures surrounding and supporting dental implants. http://purl.obolibrary.org/obo/DOID_0061026 hereditary pyropoikilocytosis http://purl.obolibrary.org/obo/DOID_583 hemolytic anemia A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene. http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom Diarrhea is a feces and droppng symptom involving the abnormally frequent intestinal evacuations with more or less fluid stools. http://purl.obolibrary.org/obo/DOID_0070769 peri-implant mucositis http://purl.obolibrary.org/obo/DOID_0070768 peri-implant disease A peri-implant disease characterised by clinical signs of inflammation without loss of supporting bone. http://purl.obolibrary.org/obo/DOID_0061027 Duane retraction syndrome 1 http://purl.obolibrary.org/obo/DOID_12557 Duane retraction syndrome A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13. http://purl.obolibrary.org/obo/DOID_0070770 peri-implantitis http://purl.obolibrary.org/obo/DOID_0070768 peri-implant disease A peri-implant disease characterized by inflammation in the peri-implant mucosa and progressive loss of supporting bone. http://purl.obolibrary.org/obo/SYMP_0000587 abnormal chest sound http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a sound of breathing that is not similar to that of the sound of moving air and may include: rhonchi (a low-pitched breath sound), crackles (a high-pitched breath sound), wheezing (a high-pitched whistling sound caused by narrowing of the bronchial tubes), and stridor (a harsh, vibratory sound caused by narrowing of the upper airway). http://purl.obolibrary.org/obo/DOID_0061028 Duane retraction syndrome 2 http://purl.obolibrary.org/obo/DOID_12557 Duane retraction syndrome A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0070771 gingival fibromatosis 1 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. http://purl.obolibrary.org/obo/SYMP_0000596 convulsion http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by an abnormal violent and involuntary contraction or series of contractions of the muscles. http://purl.obolibrary.org/obo/DOID_0070772 gingival fibromatosis 2 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in variation in a region on chromosome 5q13-q22. http://purl.obolibrary.org/obo/DOID_0061029 Duane retraction syndrome 3 http://purl.obolibrary.org/obo/DOID_12557 Duane retraction syndrome A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. http://purl.obolibrary.org/obo/SYMP_0000602 orthopnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by a difficulty in breathing that occurs when lying down and is relieved upon changing to an upright position (as in congestive heart failure). http://purl.obolibrary.org/obo/DOID_0070773 gingival fibromatosis 3 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis characterized by gingival overgrowth in early childhood at the time of tooth eruption that has_material_basis_in variation in a region on chromosome 2p23.3-p22.3. http://purl.obolibrary.org/obo/DOID_0061030 hemophilia http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding. http://purl.obolibrary.org/obo/SYMP_0000604 wheezing http://purl.obolibrary.org/obo/SYMP_0000587 abnormal chest sound An abnormal chest sound that is characterized by breathing with difficulty usually with a whistling sound. http://purl.obolibrary.org/obo/DOID_0070774 gingival fibromatosis 4 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in variation in a region on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0061103 retinitis pigmentosa 76 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. http://purl.obolibrary.org/obo/SYMP_0000613 fever http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a rise of body temperature above the normal, whether as a natural response (as to infection) or artificially induced for therapeutic reasons. http://purl.obolibrary.org/obo/DOID_0070775 gingival fibromatosis 6 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in heterozygous mutation in the ZNF862 gene on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_0061104 retinitis pigmentosa 96 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. http://purl.obolibrary.org/obo/SYMP_0000614 cough http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance. http://purl.obolibrary.org/obo/DOID_0070776 impaired intellectual development and distinctive facial features with or without cardiac defects http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by mild-to-profound developmental delay, intellectual disability, speech delay, hypotonia, variable congenital heart defects, and distinctive dysmorphic facial features including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia that has_material_basis_in heterozygous mutation in the MED13L gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0061105 retinitis pigmentosa 93 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_0070777 syndromic X-linked intellectual developmental disorder, Snijders Blok type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioral problems that has_material_basis_in heterozygous or hemizygous mutation in the DDX3X gene on Xp11. It occurs predominantly in females. http://purl.obolibrary.org/obo/SYMP_0000632 hip pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the hip. http://purl.obolibrary.org/obo/DOID_0061106 retinitis pigmentosa 91 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_0070778 hormone receptor-negative/HER2-positive breast cancer http://purl.obolibrary.org/obo/DOID_0070785 hormone receptor-negative breast cancer A HER2 positive breast cancer characterized by excess HER2 (ERBB2) protein and the absence of both the estrogen and progesterone receptors. http://purl.obolibrary.org/obo/SYMP_0000675 acute diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea Acute diarrhea is a diarrhea with either or both a rapid onset or a short course. http://purl.obolibrary.org/obo/SYMP_0000679 acute dyspnea http://purl.obolibrary.org/obo/SYMP_0019153 dyspnea A dyspnea that is characterized by a severe and sudden onset. http://purl.obolibrary.org/obo/SYMP_0000680 acute weight loss http://purl.obolibrary.org/obo/SYMP_0000178 weight loss A weight loss that is characterized by a severe and sudden onset. http://purl.obolibrary.org/obo/SYMP_0000686 chronic cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance marked by long duration, by frequent recurrence over a long time, and often by slowly progressing seriousness. http://purl.obolibrary.org/obo/SYMP_0000712 infertility http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized the biological inability of a man or a woman to contribute to conception; or, the state of a woman who is unable to carry a pregnancy to full term. http://purl.obolibrary.org/obo/SYMP_0000742 gum bleeding http://purl.obolibrary.org/obo/SYMP_0000655 mouth bleeding Gum bleeding is a mouth symptom characterized by a copious discharge of blood from the blood vessels of the mucosal tissue that lies over the alveolar bone. http://purl.obolibrary.org/obo/DOID_0061107 retinitis pigmentosa 92 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0070779 hormone receptor-positive/HER2-positive breast cancer http://purl.obolibrary.org/obo/DOID_0070784 hormone receptor-positive breast cancer A HER2 positive breast cancer characterized by excess HER2 (ERBB2) protein and at least one of the estrogen or progesterone receptors. http://purl.obolibrary.org/obo/SYMP_0000756 menorrhagia http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized an abnormally profuse menstrual flow. http://purl.obolibrary.org/obo/DOID_0061108 retinitis pigmentosa 79 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0070780 hormone receptor-positive/HER2-negative breast cancer http://purl.obolibrary.org/obo/DOID_0070784 hormone receptor-positive breast cancer A HER2 negative breast cancer characterized by at least one of the estrogen or progesterone receptors and the absence of HER2 (EBBR2) protein. http://purl.obolibrary.org/obo/SYMP_0000828 sore eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom Sore eyes is a eye symptom characterized by an inflammation of the thin covering of the eyeball and the inner eyelid brought about by a viral infection which may be highly contagious. http://purl.obolibrary.org/obo/SYMP_0000849 stillbirth http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by the birth of a dead fetus; in which a fetus that has died in the uterus, or during labor, or delivery, exits a woman's body. http://purl.obolibrary.org/obo/DOID_0061109 retinitis pigmentosa 98 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_0070781 HER2-low breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by low levels of HER2 (EBBR2) protein. http://purl.obolibrary.org/obo/DOID_0070782 HER2-ultralow breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by very low, but detectable, levels of HER2 (EBBR2) protein. http://purl.obolibrary.org/obo/SYMP_0000854 hypermenorrhea http://purl.obolibrary.org/obo/SYMP_0000756 menorrhagia A menorrhagia that is characterized by an abnormally profuse or prolonged menstrual flow. http://purl.obolibrary.org/obo/DOID_0061110 retinitis pigmentosa 97 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. http://purl.obolibrary.org/obo/SYMP_0000540 painful respiration http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a feeling of discomfort when breathing in or out. The pain may be the result of infection, musculoskeletal injury, and heart problems. http://purl.obolibrary.org/obo/SYMP_0000855 metrorrhagia http://purl.obolibrary.org/obo/SYMP_0000756 menorrhagia A menorrhagia that is characterized by an irregular uterine bleeding, especially between menstrual periods. http://purl.obolibrary.org/obo/DOID_0061111 retinitis pigmentosa 80 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. http://purl.obolibrary.org/obo/SYMP_0000833 visceral pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by originating from organ tissues of the thorax, abdomen, or pelvis. It characterizes as deep, vague, and difficult to locate pain, that radiates away from the affected organ. http://purl.obolibrary.org/obo/SYMP_0000868 breathing problems http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by a shortness of breath, a hard or uncomfortable intake of air, or the feeling that you're not getting enough air. http://purl.obolibrary.org/obo/DOID_0061112 retinitis pigmentosa 95 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/SYMP_0000132 necrosis http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Necrosis is a general symptom where death of a portion of tissue differentially affected by local injury (as loss of blood supply, corrosion, burning, or the local lesion of a disease). http://purl.obolibrary.org/obo/DOID_0061113 retinitis pigmentosa 78 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. http://purl.obolibrary.org/obo/SYMP_0000869 nasal congestion http://purl.obolibrary.org/obo/SYMP_0000237 congestion A congestion that is characterized by a blockage of the nasal passages, usually due to the membranes lining the nose becoming swollen from inflamed blood vessels. http://purl.obolibrary.org/obo/SYMP_0000673 bradykinesia http://purl.obolibrary.org/obo/SYMP_0000858 hypokinesia Bradykinesia is a hypokinesia characterized by an extreme slowness in the execution of movements and reflexes. http://purl.obolibrary.org/obo/SYMP_0000870 icteric eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom Icteric eyes is a eye symptom characterized by yellowed eyes due to bile or bilirubin accumulation. http://purl.obolibrary.org/obo/DOID_0061114 autosomal recessive intellectual developmental disorder 83 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. http://purl.obolibrary.org/obo/SYMP_0000623 acute renal failure http://purl.obolibrary.org/obo/SYMP_0000731 renal failure A renal failure that is characterized by a severe and sudden onset of renal failure. http://purl.obolibrary.org/obo/DOID_0061115 Carey-Fineman-Ziter syndrome 1 http://purl.obolibrary.org/obo/DOID_0080194 Carey-Fineman-Ziter syndrome A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34. http://purl.obolibrary.org/obo/SYMP_0000873 otitis http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom Otitis is a ear symptom characterized as a general term for inflammation or infection of the ear, in both humans and other animals. http://purl.obolibrary.org/obo/DOID_0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy. http://purl.obolibrary.org/obo/SYMP_0000878 transient fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by a rise of body temperature above the normal that is sustained for only a short period of time. http://purl.obolibrary.org/obo/DOID_0070353 cataract 47 http://purl.obolibrary.org/obo/DOID_83 cataract A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. http://purl.obolibrary.org/obo/DOID_0061116 Carey-Fineman-Ziter syndrome 2 http://purl.obolibrary.org/obo/DOID_0080194 Carey-Fineman-Ziter syndrome A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0070354 cataract 48 http://purl.obolibrary.org/obo/DOID_83 cataract A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. http://purl.obolibrary.org/obo/SYMP_0000879 low-grade fever http://purl.obolibrary.org/obo/SYMP_0000881 mild fever A mild fever that is characterized by a fever that does not exceed 38.5 degrees Celsius (101.3 degrees Fahrenheit). http://purl.obolibrary.org/obo/DOID_0061117 Perrault syndrome 2 http://purl.obolibrary.org/obo/DOID_0050857 Perrault syndrome A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0070356 visual impairment and progressive phthisis bulbi http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. http://purl.obolibrary.org/obo/DOID_0061118 autosomal dominant tubulointerstitial kidney disease 2 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/SYMP_0000880 prolonged fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by as persisting over a prolonged period of time. http://purl.obolibrary.org/obo/DOID_0070357 nephrotic syndrome type 20 http://purl.obolibrary.org/obo/DOID_2590 familial nephrotic syndrome A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. http://purl.obolibrary.org/obo/SYMP_0000881 mild fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by being mild in form. http://purl.obolibrary.org/obo/SYMP_0000882 high fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by an elevated temperature. http://purl.obolibrary.org/obo/DOID_0061119 autosomal dominant tubulointerstitial kidney disease 4 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0080652 calcium oxalate nephrolithiasis http://purl.obolibrary.org/obo/DOID_585 nephrolithiasis A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. http://purl.obolibrary.org/obo/SYMP_0000883 very high fever http://purl.obolibrary.org/obo/SYMP_0000882 high fever A high fever that is characterized by extremely high temperatures. http://purl.obolibrary.org/obo/DOID_0061120 autosomal dominant tubulointerstitial kidney disease 5 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_0080653 urolithiasis http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract. http://purl.obolibrary.org/obo/DOID_0080654 uric acid urolithiasis http://purl.obolibrary.org/obo/DOID_0080653 urolithiasis An urolithiasis in which the composition of the stones is predominantly urate. http://purl.obolibrary.org/obo/SYMP_0000886 hyperpyrexia http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by an extreme elevation of body temperature greater than, or equal to, 41.5 degrees Celsius (106.7 degrees Fahrenheit). http://purl.obolibrary.org/obo/DOID_0061121 autosomal dominant tubulointerstitial kidney disease 6 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_0080655 hypophosphatemic nephrolithiasis/osteoporosis http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by formation of renal calcium stones or bone demineralization. http://purl.obolibrary.org/obo/SYMP_0000887 Pel-Epstein fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by association with Hodgkin's lymphoma, where the fever alternates weekly from high to low. http://purl.obolibrary.org/obo/DOID_0061122 autosomal dominant tubulointerstitial kidney disease 1 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_0080656 45,X/46,XY mixed gonadal dysgenesis http://purl.obolibrary.org/obo/DOID_14449 mixed gonadal dysgenesis A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. http://purl.obolibrary.org/obo/SYMP_0000888 continuous fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by a temperature remaining above normal throughout the day and which does not fluctuate more than 1 degree Celsius in 24 hours. http://purl.obolibrary.org/obo/DOID_0070634 sitosterolemia 1 http://purl.obolibrary.org/obo/DOID_0090019 sitosterolemia A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21. http://purl.obolibrary.org/obo/DOID_0051078 congenital anomalies of the kidney and urinary tract 3 http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the NRIP1 gene on chromosome 21q11-q21. http://purl.obolibrary.org/obo/DOID_0111742 cerebellar ataxia type 42 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. http://purl.obolibrary.org/obo/SYMP_0000889 remittent fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by a fever where the temperature remains above normal throughout the day and fluctuates more than 1 degree Celsius in 24 hours. http://purl.obolibrary.org/obo/DOID_0051080 Alport syndrome 3B http://purl.obolibrary.org/obo/DOID_10983 Alport syndrome An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present. http://purl.obolibrary.org/obo/DOID_0111743 cerebellar ataxia type 47 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. http://purl.obolibrary.org/obo/DOID_0111744 cerebellar ataxia type 41 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. http://purl.obolibrary.org/obo/SYMP_0000890 relapsing fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by body temperature periodically rising and falling. http://purl.obolibrary.org/obo/SYMP_0000892 sensation perception http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by interpretation of the information perceived by sensory receptors. http://purl.obolibrary.org/obo/DOID_0051081 polycystic kidney disease 8 http://purl.obolibrary.org/obo/DOID_898 autosomal dominant polycystic kidney disease An autosomal dominant polycystic kidney disease that is characterized by enlarged kidneys, arterial hypertension, and kidney failure and that has_material_basis_in heterozygous mutation in the NEK8 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_0111745 cerebellar ataxia type 43 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. http://purl.obolibrary.org/obo/SYMP_0019145 vomiting http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom Vomiting is a digestive system symptom characterized by throwing up the stomach contents. http://purl.obolibrary.org/obo/DOID_0051082 Parkinson's disease 27 http://purl.obolibrary.org/obo/DOID_14330 Parkinson's disease A Parkinson's disease that has_material_basis_in mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0111746 cerebellar ataxia type 48 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/SYMP_0019153 dyspnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by difficult or labored respiration. http://purl.obolibrary.org/obo/SYMP_0019161 muscle pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a pain in one or more muscles. http://purl.obolibrary.org/obo/DOID_0061271 liver glycogen storage disease http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GYS2 gene which encodes glycogen synthase-2, on chromosome 12p12. http://purl.obolibrary.org/obo/DOID_0111747 cerebellar ataxia type 9 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. http://purl.obolibrary.org/obo/DOID_0061272 muscle glycogen storage disease http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease charaterized by childhood-onset condition with exercise intolerance, arrhythmia, cardiomyopathy, and sudden death that has_material_basis_in homozygous mutation in the GYS1 gene which encodes muscle glycogen synthase, on chromosome 19q13. http://purl.obolibrary.org/obo/SYMP_0019177 fatigue http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a weariness or exhaustion from labor, exertion, or stress. http://purl.obolibrary.org/obo/DOID_0061285 glycogen storage disease X http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the PGAM2 gene, which encodes muscle phosphoglycerate mutase, on chromosome 7p13. http://purl.obolibrary.org/obo/DOID_0061286 glycogen storage disease XI http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous mutation in the LDHA gene, which encodes lactate dehydrogenase, on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0061287 glycogen storage disease XII http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous mutation in the ALDOA gene which encodes fructose-1,6-bisphosphate aldolase A, on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_0111748 mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. http://purl.obolibrary.org/obo/SYMP_0019180 constipation http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom Constipation is a feces and droppings symptom involving the abnormally delayed or infrequent passage of dry hardened feces. Constipation may be categorized into three subtypes: normal-transit, slow-transit, and pelvic floor dysfunction. http://purl.obolibrary.org/obo/DOID_0061288 glycogen storage disease XIII http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the ENO3 gene, which encodes beta-enolase, on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. http://purl.obolibrary.org/obo/SYMP_0000023 disorientation http://purl.obolibrary.org/obo/SYMP_0000016 confusion A confusion that is characterized by an usually transient state of confusion especially as to time, place, or identity; often as a result of disease or drugs. http://purl.obolibrary.org/obo/DOID_0061289 Galloway-Mowat syndrome 6 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0111750 adult-onset ataxia and polyneuropathy http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. http://purl.obolibrary.org/obo/NCIT_C44357 Chromium Hexavalent Compound http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A highly corrosive, inorganic substance that contains the metallic element chromium in its positive-6 valence state. Chromium hexavalent compounds are used in stainless steel production, in chrome plating, in the manufacture of dyes and pigments, in leather tanning, in wood preservation and are used as corrosion inhibitors. Inhalation exposure of these compounds mainly affects the respiratory tract causing shortness of breath, nasal itching, asthma, coughing, bronchitis and pneumonia, but can also affect the liver, kidneys, gastrointestinal tract and the immune system. Chromium hexavalent compounds are carcinogenic in humans and are associated with an increased risk of developing lung cancer and cancer of the sinonasal cavity. http://purl.obolibrary.org/obo/DOID_0061290 Galloway-Mowat syndrome 7 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. http://purl.obolibrary.org/obo/DOID_0111751 mitochondrial nonsyndromic sensorineural deafness http://purl.obolibrary.org/obo/DOID_10003 sensorineural hearing loss A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. http://purl.obolibrary.org/obo/DOID_0080525 differentiated high-grade thyroid carcinoma http://purl.obolibrary.org/obo/DOID_0080524 thyroid gland adenocarcinoma A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. http://purl.obolibrary.org/obo/DOID_0111752 autosomal-mitochondrial sensorineural deafness http://purl.obolibrary.org/obo/DOID_10003 sensorineural hearing loss A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. http://purl.obolibrary.org/obo/DOID_0061291 Galloway-Mowat syndrome 8 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy that has_material_basis_in homozygous mutation in the NUP133 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that involves multiple components of the immune system. http://purl.obolibrary.org/obo/DOID_0111753 infantile hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/DOID_11984 hypertrophic cardiomyopathy A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. http://purl.obolibrary.org/obo/DOID_0061292 Galloway-Mowat syndrome 9 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood that has_material_basis_in homozygous mutation in the GON7 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0080827 human cytomegalovirus infection http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5). http://purl.obolibrary.org/obo/DOID_0111754 Leber plus disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. http://purl.obolibrary.org/obo/DOID_0061293 Galloway-Mowat syndrome 10 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome characterized by onset of symptoms soon after birth that has_material_basis_in homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0080828 VEXAS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_0111755 Leber hereditary optic neuropathy and dystonia http://purl.obolibrary.org/obo/DOID_0111754 Leber plus disease A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. http://purl.obolibrary.org/obo/DOID_0061294 Meckel syndrome 9 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in compound heterozygous mutation in the B9D1 gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_0080829 low grade glioma http://purl.obolibrary.org/obo/DOID_936 brain disease A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). http://purl.obolibrary.org/obo/DOID_0111756 Leber hereditary optic neuropathy with demyelinating disease of CNS http://purl.obolibrary.org/obo/DOID_0111754 Leber plus disease A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system. http://purl.obolibrary.org/obo/DOID_0061295 Meckel syndrome 10 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D2 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0061296 Meckel syndrome 11 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in homozygous mutation in the TMEM231 gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_0080830 childhood low-grade glioma http://purl.obolibrary.org/obo/DOID_0080829 low grade glioma A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. http://purl.obolibrary.org/obo/DOID_0111757 Y-linked deafness http://purl.obolibrary.org/obo/DOID_0050738 Y-linked monogenic disease A nonsyndromic deafness characterized by a Y-lnked inheritance mode. http://purl.obolibrary.org/obo/DOID_0061297 Meckel syndrome 12 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in a compound heterozygous mutation in the KIF14 gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_0080932 primary localized cutaneous amyloidosis 3 http://purl.obolibrary.org/obo/DOID_0050639 primary cutaneous amyloidosis A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. http://purl.obolibrary.org/obo/DOID_0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. http://purl.obolibrary.org/obo/DOID_0111758 Y-linked deafness 2 http://purl.obolibrary.org/obo/DOID_0111757 Y-linked deafness A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. http://purl.obolibrary.org/obo/DOID_0111759 Y-linked deafness 1 http://purl.obolibrary.org/obo/DOID_0111757 Y-linked deafness A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. http://purl.obolibrary.org/obo/DOID_0061298 retinitis pigmentosa 100 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by the onset of night blindness in childhood or young adulthood, followed by progressive visual field constriction and that has_material_basis_in compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_0061299 retinitis pigmentosa 101 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that has_material_basis_in compound heterozygous or homozygous mutation in the CLN3 gene on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_0061300 Hermansky-Pudlak syndrome 10 http://purl.obolibrary.org/obo/DOID_3753 Hermansky-Pudlak syndrome A Hermansky-Pudlak syndrome characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures that has_material_basis_in homozygous mutation in the AP3D1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0112367 Coffin-Siris syndrome 8 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. http://purl.obolibrary.org/obo/DOID_0061301 Hermansky-Pudlak syndrome 11 http://purl.obolibrary.org/obo/DOID_3753 Hermansky-Pudlak syndrome A Hermansky-Pudlak syndrome characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis that has_material_basis_in homozygous mutation in the BLOC1S5 gene on chromosome 6p24. http://purl.obolibrary.org/obo/DOID_0112368 Coffin-Siris syndrome 5 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_0111761 46,XX sex reversal 1 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus http://purl.obolibrary.org/obo/DOID_10908 hydrocephalus A hydrocephalus characterized by fetal or congenital onset. http://purl.obolibrary.org/obo/DOID_0112369 Coffin-Siris syndrome 7 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/DOID_0111762 46,XX sex reversal 3 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0070682 congenital hydrocephalus 1 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the CCDC88C gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0112370 Coffin-Siris syndrome 12 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/DOID_0111763 46,XX sex reversal 2 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. http://purl.obolibrary.org/obo/DOID_0070683 congenital hydrocephalus 2 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the MPDZ gene on chromosome 9p23. http://purl.obolibrary.org/obo/DOID_0112371 Coffin-Siris syndrome 10 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. http://purl.obolibrary.org/obo/DOID_0111764 46,XX sex reversal 4 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_0070684 congenital hydrocephalus 3 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0112372 Coffin-Siris syndrome 11 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. http://purl.obolibrary.org/obo/DOID_0111765 X-linked cardiac valvular dysplasia http://purl.obolibrary.org/obo/DOID_4079 heart valve disease A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0070685 congenital hydrocephalus 4 http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in heterozygous mutation in the TRIM71 gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_0112373 autosomal dominant auditory neuropathy 3 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/DOID_0111766 X-linked VACTERL association http://purl.obolibrary.org/obo/DOID_14679 VACTERL association A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_0070686 X-linked congenital hydrocephalus http://purl.obolibrary.org/obo/DOID_0070681 congenital hydrocephalus A congenital hydrocephalus that has_material_basis_in homozygous mutation in the L1CAM gene on chromosome Xq28. Additional features include stenosis of the aqueduct of Sylvius, adducted thumbs, spastic paraparesis and impaired intellectual development. http://purl.obolibrary.org/obo/DOID_0112376 muscular dystrophy-dystroglycanopathy type B15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0111767 X-linked thrombocytopenia with beta-thalassemia http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0070687 normal pressure hydrocephalus 1 http://purl.obolibrary.org/obo/DOID_1572 normal pressure hydrocephalus A normal pressure hydrocephalus that has_material_basis_in heterozygous mutation in the CFAP43 gene on chromosome 10q25. http://purl.obolibrary.org/obo/DOID_0112377 muscular dystrophy-dystroglycanopathy type B14 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31. http://purl.obolibrary.org/obo/DOID_0111768 X-linked properdin deficiency http://purl.obolibrary.org/obo/DOID_626 complement deficiency A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0070688 autosomal recessive congenital indifference to pain http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy characterized by complete absence of pain perception with no impairment of other sensory, motor, or autonomic modalities that has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. Hyposmia or anosmia is also common. http://purl.obolibrary.org/obo/DOID_0112378 muscular dystrophy-dystroglycanopathy type B3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1. http://purl.obolibrary.org/obo/DOID_0111769 46,XY sex reversal 6 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/DOID_0070689 hereditary sensory and autonomic neuropathy type 2D http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by congenital to pediatric onset of distal loss of pain and temperature sensation and variable autonomic dysfunction that has_material_basis_in homozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_0112379 muscular dystrophy-dystroglycanopathy type B4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. http://purl.obolibrary.org/obo/DOID_0111770 46,XY sex reversal 9 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1. http://purl.obolibrary.org/obo/DOID_0070690 lobodontia http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease characterized by supernumerary cusps and a single pyramid-shaped molar root that has_material_basis_in heterozygous mutation in the ASCL5 gene on chromosome 1q32. Canines and premolars may show a tritubercular structure or prominent cusp tips. http://purl.obolibrary.org/obo/DOID_0112380 muscular dystrophy-dystroglycanopathy type B2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_0111771 46,XY sex reversal 4 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. http://purl.obolibrary.org/obo/DOID_0070691 craniosynostosis-scoliosis syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by coronal craniosynostosis and thoracolumbar scoliosis, in association with facial dysmorphisms including midface hypoplasia and hypertelorism, and congenital heart disease, mostly atrial septal defect that has_material_basis_in homozygous mutation in the DHRS3 gene on chromosome 1p36, resulting in pathological excess of plasma retinoic acid. http://purl.obolibrary.org/obo/DOID_0112381 muscular dystrophy-dystroglycanopathy type C12 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_0111772 46,XY sex reversal 3 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_0070692 Davis-Wells syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by mild cognitive impairment, dysmorphism featuring oculoauricular abnormalities, and developmental defects involving genitourinary and digestive tracts that has_material_basis_in homozygous or compound heterozygous mutation in the CACHD1 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_0112382 muscular dystrophy-dystroglycanopathy type C8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. http://purl.obolibrary.org/obo/DOID_0111773 46,XY sex reversal 8 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. http://purl.obolibrary.org/obo/DOID_0070693 Ebstein-Bezieau neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder A autosomal dominant intellectual developmental disorder characterized by neurodevelopmental delay, intellectual disability, and varying congenital malformations, most commonly skeletal and cardiac, that has_material_basis_in heterozygous mutation in the PSMC3 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_0112383 KINSSHIP syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/DOID_0111774 46,XY sex reversal 7 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. http://purl.obolibrary.org/obo/DOID_0070694 neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder A autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, mildly delayed walking and speech acquisition, impaired intellectual development ranging from learning difficulties to severe cognitive impairment, behavioral abnormalities or autistic features, and congenital heart defects that has_material_basis_in heterozygous mutation in the KDM2B gene on chromosome 12q24. http://purl.obolibrary.org/obo/SYMP_0020053 mammary gland inflammation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an inflammation of the mammary gland or udder and usually caused by infection. http://purl.obolibrary.org/obo/DOID_0111775 46,XY sex reversal 10 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. http://purl.obolibrary.org/obo/DOID_0070695 Yu-Kury neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay, speech delay, motor delay, and intellectual disability that has_material_basis_in heterozygous mutation in the PSMC5 gene on chromosome 12q23. http://purl.obolibrary.org/obo/SYMP_0020054 severe mammary gland inflammation http://purl.obolibrary.org/obo/SYMP_0020053 mammary gland inflammation A mammary gland inflammation that is characterized by an increased intensity or severity of the condition. http://purl.obolibrary.org/obo/DOID_0111776 46,XY sex reversal 5 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0111777 46,XY sex reversal 2 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. http://purl.obolibrary.org/obo/DOID_0070696 neurodevelopmental disorder with seizures, hypotonia, and variable spasticity http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with limited or no speech, intellectual disability, ataxia-dystonia, and epilepsy that has_material_basis_in homozygous mutation in the PGBD5 gene on chromosome 1q42. http://purl.obolibrary.org/obo/SYMP_0020056 cerebrovascular accident http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by a loss of blood flow to part of the brain, which damages brain tissue. Cerebrovascular accidents are caused by blood clots and broken blood vessels in the brain. http://purl.obolibrary.org/obo/DOID_0111778 46,XY sex reversal 1 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. http://purl.obolibrary.org/obo/DOID_0070697 neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by mild to moderate global developmental delay, mildly to moderately impaired intellectual development, and progressive spasticity of the lower limbs with hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutations in the RPS6KC1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/SYMP_0020057 bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by acute inflammation of the bronchi, accompanied by inflamed patches in the nearby lobules of the lungs. http://purl.obolibrary.org/obo/DOID_0111779 X-linked panhypopituitarism http://purl.obolibrary.org/obo/DOID_0050735 X-linked monogenic disease A combined pituitary hormone deficiency that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. http://purl.obolibrary.org/obo/DOID_0081335 Becker disease http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0070698 X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, hypotonia with delayed walking or inability to walk, severe-to-profound intellectual disability with poor or absent speech, and early-onset epilepsy that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11. Females may be less severely affected than males. http://purl.obolibrary.org/obo/DOID_0111780 TARP syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0081424 familial focal epilepsy with variable foci 4 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_0070699 STAD syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a skeletal dysplasia consisting of advanced bone maturation, short and dysplastic bones, and disproportionate body measurements; facial dysmorphisms and dental anomalies; and neurodevelopmental delays ranging in severity from isolated fine motor delays to impaired intellectual development that has_material_basis_in heterozygous mutation in the PTBP1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0111781 Waisman syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0070532 aniridia 1 http://purl.obolibrary.org/obo/DOID_12271 aniridia An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. http://purl.obolibrary.org/obo/DOID_0070700 Luo-Agrawal neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by neurodevelopmental delay, hypotonia, dysmorphic features, and growth restriction with or without structural brain abnormalities that has_material_basis_in homozygous mutation in the WSB2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0070519 early-onset vitamin B6-dependent epilepsy 4 http://purl.obolibrary.org/obo/DOID_0080768 pyridoxine-dependent epilepsy A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. http://purl.obolibrary.org/obo/DOID_0070701 small fiber neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy A neuropathy that solely or predominantly affects small myelinated A-delta (Aδ) fibers and unmyelinated C fibers resulting in sensory changes, autonomic dysfunction, or both. Common symptoms include burning, sharp and/or deep pain, allodynia, hyperalgesia, thermal and pinprick hypoesthesia, dry mouth, dry eyes, constipation, bladder incontinence, orthostatic dizziness, sexual dysfunction, red or white skin discoloration, or trouble sweating. http://purl.obolibrary.org/obo/DOID_0111783 otopalatodigital syndrome type 1 http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0081404 BCOR-CCNB3 sarcoma http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. http://purl.obolibrary.org/obo/DOID_0070702 measles inclusion body encephalitis http://purl.obolibrary.org/obo/DOID_646 viral encephalitis A viral encephalitis that has_material_basis_in measles virus (Morbillivirus hominis) and occurs in immunocompromised patients with acute onset of progressive seizures days to months after infection or vaccination with the live-attenuated vaccine, resulting near universally in death. http://purl.obolibrary.org/obo/DOID_0111784 otopalatodigital syndrome type 2 http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0060930 developmental dysplasia of the hip http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. http://purl.obolibrary.org/obo/DOID_0070703 Meckel syndrome 14 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TXNDC15 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. http://purl.obolibrary.org/obo/DOID_0060949 3-hydroxyisobutryl-CoA hydrolase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. http://purl.obolibrary.org/obo/DOID_0111786 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/DOID_0111785 frontometaphyseal dysplasia A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0081462 Zeitz-Han retinal dystrophy http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration A retinal degeneration that is characterized by a variable retinal phenotypes, predominantly described as rod-cone dystrophy with some patients clinically diagnosed as having retinitis pigmentosa, but also including cases of cone-rod and cone dystrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the ubiquitin-associated protein (UBAP1L) gene on chromosome 15q22. http://purl.obolibrary.org/obo/DOID_0060952 polycystic kidney disease 7 http://purl.obolibrary.org/obo/DOID_898 autosomal dominant polycystic kidney disease A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. http://purl.obolibrary.org/obo/DOID_0111787 frontometaphyseal dysplasia 2 http://purl.obolibrary.org/obo/DOID_0111785 frontometaphyseal dysplasia A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. http://purl.obolibrary.org/obo/CHEBI_33229 vitamin (role) http://purl.obolibrary.org/obo/CHEBI_33284 nutrient A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. http://purl.obolibrary.org/obo/DOID_0060954 Holoprosencephaly 13, X-linked http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. http://purl.obolibrary.org/obo/DOID_0111788 Melnick-Needles syndrome http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/CHEBI_164200 triclosan http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor An aromatic ether that is phenol which is substituted at C-5 by a chloro group and at C-2 by a 2,4-dichlorophenoxy group. It is widely used as a preservative and antimicrobial agent in personal care products such as soaps, skin creams, toothpaste and deodorants as well as in household items such as plastic chopping boards, sports equipment and shoes. http://purl.obolibrary.org/obo/DOID_0060964 Loeys-Dietz syndrome 6 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0111789 Frank-Ter Haar syndrome http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. http://purl.obolibrary.org/obo/CHEBI_26092 phthalate http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor An endocrine disruptor that is phthalate, used to make plastics more flexible, they are also found in some food packaging, cosmetics, children’s toys, and medical devices. A family of benzene derivatives that are formed by esterification of phthalic acid. Phthalates are added to increase the flexibility and softness of commercial plastics, which are incorporated into a wide variety of consumer goods. Ingested phthalates may exhibit estrogenic or antiandrogenic effects or they may act as endocrine disruptors. http://purl.obolibrary.org/obo/DOID_0060965 episodic ataxia type 9 http://purl.obolibrary.org/obo/DOID_963 episodic ataxia An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. http://purl.obolibrary.org/obo/DOID_070355 multisystem proteinopathy http://purl.obolibrary.org/obo/DOID_231 motor neuron disease A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. http://purl.obolibrary.org/obo/CHEBI_46661 asbestos http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements. http://purl.obolibrary.org/obo/DOID_0060969 galactosemia 4 http://purl.obolibrary.org/obo/DOID_9870 galactosemia A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_0080690 RASopathy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. http://purl.obolibrary.org/obo/CHEBI_53218 diphenylmethane-4,4'-diisocyanate http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A diisocyanate consisting of diphenylmethane with two isocyanate groups at the 4- and 4'-positions. http://purl.obolibrary.org/obo/DOID_0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. http://purl.obolibrary.org/obo/DOID_0111866 trichothiodystrophy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. http://purl.obolibrary.org/obo/HP_0011460 Embryonal onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). http://purl.obolibrary.org/obo/DOID_0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060879 primary hypomagnesemia A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_0080779 plasmablastic lymphoma http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. http://purl.obolibrary.org/obo/HP_0011461 Fetal onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). http://purl.obolibrary.org/obo/DOID_0070576 spermatogenic failure 77 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23. http://purl.obolibrary.org/obo/DOID_0080780 acute erythroid leukemia http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia that is characterized by a predominant immature erythroid population. http://purl.obolibrary.org/obo/HP_0011462 Young adult onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset of disease at the age of between 16 and 40 years. http://purl.obolibrary.org/obo/DOID_0070613 familial renal glucosuria http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0112014 congenital megabladder http://purl.obolibrary.org/obo/DOID_365 bladder disease A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. http://purl.obolibrary.org/obo/HP_0011463 Childhood onset http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset Onset of disease at the age of between 1 and 5 years. http://purl.obolibrary.org/obo/DOID_0070606 autosomal dominant nonsyndromic deafness 87 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0112015 immunodeficiency 72 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission http://purl.obolibrary.org/obo/TRANS_0000000 transmission process Direct transmission is a transmission process that is the means during which the pathogen is transmitted immediately from a reservoir, source or host to another host. http://purl.obolibrary.org/obo/DOID_0051004 congenital nonspherocytic hemolytic anemia 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0112016 non-syndromic X-linked intellectual disability 2 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. http://purl.obolibrary.org/obo/TRANS_0000002 indirect transmission http://purl.obolibrary.org/obo/TRANS_0000000 transmission process Indirect transmission is a transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by intermediary vehicles, vectors or as airborne dust particles. http://purl.obolibrary.org/obo/DOID_0051054 coarctation of the aorta http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure. http://purl.obolibrary.org/obo/DOID_0051056 immunodeficiency 113 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_0112017 non-syndromic X-linked intellectual disability 73 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2. http://purl.obolibrary.org/obo/TRANS_0000006 congenital transmission http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission Congenital transmission is a direct transmission process during which the pathogen is transmitted directly from mother to child at or around the time of birth. http://purl.obolibrary.org/obo/DOID_0051057 avoidant/restrictive food intake disorder http://purl.obolibrary.org/obo/DOID_8670 eating disorder An eating disorder that is characterized by a persistent pattern of avoidant or selective eating that fails to meet nutritional needs and results in significant nutritional deficiency or weight loss. http://purl.obolibrary.org/obo/DOID_0112018 non-syndromic X-linked intellectual disability 104 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/TRANS_0000007 contact transmission http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission Contact transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by kissing, skin-to-skin contact, sexual intercourse, or by contact with soil or vegetation containing the pathogen. http://purl.obolibrary.org/obo/DOID_0051058 acute calcific periarthritis http://purl.obolibrary.org/obo/DOID_2964 periarthritis A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation. http://purl.obolibrary.org/obo/DOID_0112019 non-syndromic X-linked intellectual disability 19 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/TRANS_0000008 droplet spread transmission http://purl.obolibrary.org/obo/TRANS_0000001 direct transmission Droplet spread transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by spray of aerosols over a short distance, spray from sneezing, coughing or talking. http://purl.obolibrary.org/obo/TRANS_0000012 vehicle-borne ingestion transmission http://purl.obolibrary.org/obo/TRANS_0000010 vehicle-borne transmission Vehicle-borne ingestion transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by ingestion of fluids or foods or food products including: food, water, milk, or meat products. http://purl.obolibrary.org/obo/DOID_0051059 autosomal recessive Segawa syndrome http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0112020 non-syndromic X-linked intellectual disability 103 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. http://purl.obolibrary.org/obo/SYMP_0000162 tremor http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Tremor is a generial symptom characterized by a trembling or shaking usually from physical weakness, emotional stress, or disease. http://purl.obolibrary.org/obo/DOID_0051060 frontotemporal dementia 1 http://purl.obolibrary.org/obo/DOID_9255 frontotemporal dementia A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0112021 non-syndromic X-linked intellectual disability ARX-related http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. http://purl.obolibrary.org/obo/SYMP_0000568 short stature http://purl.obolibrary.org/obo/SYMP_0000464 lack of expected normal physiological development in childhood A lack of expected normal physiological development in childhood that is characterized by an individual's height being in the 3rd percentile for the mean height of a given age, sex, and population group. http://purl.obolibrary.org/obo/SYMP_0000306 inability to feed http://purl.obolibrary.org/obo/SYMP_0000522 feeding difficulties and mismanagement A feeding difficulties and mismanagement that is characterized by a lack of feeding capacity. http://purl.obolibrary.org/obo/DOID_0051061 stroke http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen. http://purl.obolibrary.org/obo/DOID_0112022 non-syndromic X-linked intellectual disability 21 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. http://purl.obolibrary.org/obo/SYMP_0000594 abnormal involuntary movement http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by an inability to control bodily movement and may be a symptom of cerebrovascular diseases, dyskinesia, tremor, chorea, dystonia and myoclonus. http://purl.obolibrary.org/obo/DOID_0112023 non-syndromic X-linked intellectual disability 20 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. http://purl.obolibrary.org/obo/DOID_0051062 ischemic stroke http://purl.obolibrary.org/obo/DOID_0051061 stroke A stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain. http://purl.obolibrary.org/obo/NCIT_C79660 Pollen http://purl.obolibrary.org/obo/CHEBI_50904 allergen The male genetic material of a seed plant contained in the anther, usually appearing as fine grains or dust. http://purl.obolibrary.org/obo/DOID_0112024 non-syndromic X-linked intellectual disability 58 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_0051063 hemorrhagic stroke http://purl.obolibrary.org/obo/DOID_0051061 stroke A stroke that is characterized by sudden bleeding in the brain. http://purl.obolibrary.org/obo/DOID_0080210 primary mediastinal B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. http://purl.obolibrary.org/obo/DOID_0112025 female-restricted syndromic X-linked intellectual disability 99 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_0051064 left ventricular failure http://purl.obolibrary.org/obo/DOID_6000 congestive heart failure A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs. http://purl.obolibrary.org/obo/DOID_0080211 nodal marginal zone lymphoma http://purl.obolibrary.org/obo/DOID_0050748 marginal zone lymphoma A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. http://purl.obolibrary.org/obo/DOID_0112026 non-syndromic X-linked intellectual disability 99 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_0051065 chronic pancreatitis http://purl.obolibrary.org/obo/DOID_4989 pancreatitis A pancreatitis that is characterized by long-term inflamation of the pancreas. http://purl.obolibrary.org/obo/DOID_0080212 polycystic kidney disease 4 http://purl.obolibrary.org/obo/DOID_0110861 autosomal recessive polycystic kidney disease A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. http://purl.obolibrary.org/obo/DOID_0112027 non-syndromic X-linked intellectual disability 14 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. http://purl.obolibrary.org/obo/DOID_0051066 arterionephrosclerosis http://purl.obolibrary.org/obo/DOID_784 chronic kidney disease A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss. http://purl.obolibrary.org/obo/DOID_0080213 punctate palmoplantar keratoderma type II http://purl.obolibrary.org/obo/DOID_0060361 punctate palmoplantar keratoderma A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits. http://purl.obolibrary.org/obo/DOID_0112028 non-syndromic X-linked intellectual disability 45 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. http://purl.obolibrary.org/obo/DOID_0061135 infantile hypercalcemia 2 http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0080214 punctate palmoplantar keratoderma type I http://purl.obolibrary.org/obo/DOID_0060361 punctate palmoplantar keratoderma A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. http://purl.obolibrary.org/obo/DOID_0112029 non-syndromic X-linked intellectual disability 50 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. http://purl.obolibrary.org/obo/DOID_0061136 infantile hypercalcemia 1 http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0080215 developmental and epileptic encephalopathy 8 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. http://purl.obolibrary.org/obo/DOID_0112030 non-syndromic X-linked intellectual disability 84 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. http://purl.obolibrary.org/obo/DOID_0061137 spinocerebellar ataxia 27B http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33. http://purl.obolibrary.org/obo/DOID_0080216 duodenal atresia http://purl.obolibrary.org/obo/DOID_10486 intestinal atresia An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum. http://purl.obolibrary.org/obo/DOID_0112031 non-syndromic X-linked intellectual disability 89 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0061139 coronary atherosclerosis http://purl.obolibrary.org/obo/DOID_1936 atherosclerosis An atherosclerosis of the coronary vasculature. http://purl.obolibrary.org/obo/DOID_0080217 lysosomal acid lipase deficiency http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. http://purl.obolibrary.org/obo/DOID_0080218 primary spontaneous pneumothorax http://purl.obolibrary.org/obo/DOID_1673 pneumothorax A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung. http://purl.obolibrary.org/obo/DOID_0112032 non-syndromic X-linked intellectual disability 92 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0061141 complex cortical dysplasia with other brain malformations 12 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0080219 dystransthyretinemic hyperthyroxinemia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0061142 complex cortical dysplasia with other brain malformations 11 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0112033 non-syndromic X-linked intellectual disability 81 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. http://purl.obolibrary.org/obo/DOID_0080222 pseudohypoparathyroidism type 1B http://purl.obolibrary.org/obo/DOID_4184 pseudohypoparathyroidism A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS. http://purl.obolibrary.org/obo/DOID_0061143 complex cortical dysplasia with other brain malformations 10 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0112034 non-syndromic X-linked intellectual disability 9 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0080223 epidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_3390 palmoplantar keratosis A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. http://purl.obolibrary.org/obo/DOID_0061144 complex cortical dysplasia with other brain malformations 13 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0112035 non-syndromic X-linked intellectual disability 96 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0080224 autosomal dominant dystrophic epidermolysis bullosa http://purl.obolibrary.org/obo/DOID_4959 epidermolysis bullosa dystrophica An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. http://purl.obolibrary.org/obo/DOID_0061145 monilethrix 1 http://purl.obolibrary.org/obo/DOID_0050472 monilethrix A hair disease that is characterized by beading of the hair shaft caused by periodic constrictions and that has_material_basis_in heterozygous mutation in the hair cortex keratin gene KRT86 on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0112036 non-syndromic X-linked intellectual disability 105 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0080225 amyotrophic lateral sclerosis type 23 http://purl.obolibrary.org/obo/DOID_332 amyotrophic lateral sclerosis An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0080226 autosomal dominant intellectual developmental disorder 56 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0080227 autosomal dominant intellectual developmental disorder 55 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_0061147 neurodevelopmental disorder with or without autism or seizures http://purl.obolibrary.org/obo/DOID_225 syndrome An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_0112037 chromosome Xp11.22 duplication syndrome http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. http://purl.obolibrary.org/obo/DOID_0061148 hereditary congenital ptosis 2 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A hereditary congenital ptosis that has_material_basis_in linkage to the X chromosome. http://purl.obolibrary.org/obo/DOID_0080228 autosomal dominant intellectual developmental disorder 53 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_0112038 non-syndromic X-linked intellectual disability 1 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_0061149 hereditary congenital ptosis 1 http://purl.obolibrary.org/obo/DOID_0060261 congenital ptosis A hereditary congenital ptosis that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0080230 autosomal dominant intellectual developmental disorder 54 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. http://purl.obolibrary.org/obo/DOID_0112039 non-syndromic X-linked intellectual disability 77 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. http://purl.obolibrary.org/obo/DOID_0061150 familial isolated hypoparathyroidism 1 http://purl.obolibrary.org/obo/DOID_0111387 familial isolated hypoparathyroidism A familial isolated hypoparathyroidism that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0080231 autosomal dominant intellectual developmental disorder 52 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0061151 familial isolated hypoparathyroidism 2 http://purl.obolibrary.org/obo/DOID_0111387 familial isolated hypoparathyroidism A familial isolated hypoparathyroidism that has_material_basis_in homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24. Some patients have been reported with heterozygous mutations in the GCM2 gene. http://purl.obolibrary.org/obo/DOID_0112040 non-syndromic X-linked intellectual disability 100 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0080232 autosomal dominant intellectual developmental disorder 51 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0061152 monilethrix 2 http://purl.obolibrary.org/obo/DOID_0050472 monilethrix A hair disease that is characterized by a 'beaded' appearance of affected hairs on microscopy, caused by elliptical nodes of normal thickness alternating with narrow, dystrophic constrictions and that has_material_basis_in heterozygous mutation in the KRT81 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0112041 non-syndromic X-linked intellectual disability 90 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0080233 autosomal dominant intellectual developmental disorder 50 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. http://purl.obolibrary.org/obo/DOID_0061155 kyphomelic dysplasia http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_0112042 Tonne-Kalscheuer syndrome http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. http://purl.obolibrary.org/obo/DOID_0080234 Clark-Baraitser syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_0061156 CASGID syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32. http://purl.obolibrary.org/obo/DOID_0112043 non-syndromic X-linked intellectual disability 91 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. http://purl.obolibrary.org/obo/DOID_0080235 autosomal dominant intellectual developmental disorder 48 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_0061157 retinopathy sensory neuropathy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inhomozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0080236 autosomal dominant intellectual developmental disorder 45 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0112044 non-syndromic X-linked intellectual disability 98 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. http://purl.obolibrary.org/obo/DOID_0061158 Kariminejad neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with delayed walking by a few years, speech delay, and impaired intellectual development that has_material_basis_in homozygous mutation in the RBSN gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0080237 autosomal dominant intellectual developmental disorder 46 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_0112045 non-syndromic X-linked intellectual disability 93 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease characterized by systemic autoimmune manifestations with infantile onset. http://purl.obolibrary.org/obo/DOID_0080238 autosomal dominant intellectual developmental disorder 47 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. http://purl.obolibrary.org/obo/DOID_0112046 non-syndromic X-linked intellectual disability 97 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0080239 autosomal recessive intellectual developmental disorder 61 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_0112047 non-syndromic X-linked intellectual disability 53 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. http://purl.obolibrary.org/obo/DOID_0080240 non-syndromic X-linked intellectual disability 106 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0061160 infantile onset multisystem autoimmune disease 1 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs that has_material_basis_in heterozygous gain of function mutation in the STAT3 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0112048 non-syndromic X-linked intellectual disability 101 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. http://purl.obolibrary.org/obo/DOID_0061161 infantile onset multisystem autoimmune disease 2 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease that has_material_basis_in compound heterozygous mutation in the ZAP70 gene on chromosome 2q12. http://purl.obolibrary.org/obo/DOID_0080241 syndromic X-linked mental retardation 35 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0112049 non-syndromic X-linked intellectual disability 23 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24. http://purl.obolibrary.org/obo/DOID_0080242 syndromic X-linked mental retardation Hough type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_0061162 infantile onset multisystem autoimmune disease 3 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized by the onset of various systemic autoimmune manifestations in the first months or years of life that has_material_basis_in homozygous mutation in the CBLB gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_0112050 non-syndromic X-linked intellectual disability 63 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. http://purl.obolibrary.org/obo/DOID_0080243 amelogenesis imperfecta type 3B http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. http://purl.obolibrary.org/obo/DOID_0061163 infantile onset multisystem autoimmune disease 4 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0112051 non-syndromic X-linked intellectual disability 30 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. http://purl.obolibrary.org/obo/DOID_0080244 Galloway-Mowat syndrome 2 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0061164 infantile onset multisystem autoimmune disease 5 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that has_material_basis_in homozygous mutation in the PDL1 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_0061165 proximal renal tubular acidosis http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular transport disease characterized by an inability of the distal tubule to generate a sufficiently large hydrogen ion gradient between blood and tubular fluid. http://purl.obolibrary.org/obo/DOID_0112052 non-syndromic X-linked intellectual disability 82 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25. http://purl.obolibrary.org/obo/DOID_0080245 Galloway-Mowat syndrome 3 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_0061166 autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron that has_material_basis_in homozygous mutation in the ATP6N1B gene on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0112053 non-syndromic X-linked intellectual disability 88 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_0080246 Galloway-Mowat syndrome 4 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0061167 autosomal recessive proximal renal tubular acidosis http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular transport disease characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. http://purl.obolibrary.org/obo/DOID_0112054 non-syndromic X-linked intellectual disability 107 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_0080247 Galloway-Mowat syndrome 5 http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0061168 mitochondrial axonal Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/DOID_10595 Charcot-Marie-Tooth disease A Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur that has_material_basis_in mutation in the MTTV gene, which is encoded by the mitochondrial genome. http://purl.obolibrary.org/obo/DOID_0112055 non-syndromic X-linked intellectual disability 46 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. http://purl.obolibrary.org/obo/DOID_0080248 erythrokeratodermia variabilis et progressiva 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0061171 immunodeficiency 130 with HPV-related verrucosis http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A primary immunodeficiency disease that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_0112056 X-linked intellectual disability-short stature-overweight syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. http://purl.obolibrary.org/obo/DOID_0080249 erythrokeratodermia variabilis et progressiva 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_0061172 transient neonatal diabetes mellitus 3 http://purl.obolibrary.org/obo/DOID_0060334 transient neonatal diabetes mellitus A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0061173 transient neonatal diabetes mellitus 1 http://purl.obolibrary.org/obo/DOID_0060334 transient neonatal diabetes mellitus A transient neonatal diabetes mellitus that has_material_basis_in overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 and HYMAI. http://purl.obolibrary.org/obo/DOID_0061174 transient neonatal diabetes mellitus 2 http://purl.obolibrary.org/obo/DOID_0060334 transient neonatal diabetes mellitus A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the ABCC8 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0112057 non-syndromic X-linked intellectual disability 42 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0080250 erythrokeratodermia variabilis et progressiva 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0061175 Gollop-Wolfgang complex http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder characterized by bifurcation of the femur with ipsilateral tibial aplasia and split hand and monodactyly of the feet, resulting in severe and complex limb deformities. http://purl.obolibrary.org/obo/DOID_0112058 non-syndromic X-linked intellectual disability 41 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0080251 erythrokeratodermia variabilis et progressiva 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0061176 developmental and epileptic encephalopathy 118 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0112059 non-syndromic X-linked intellectual disability 72 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0080252 spastic ataxia 8 http://purl.obolibrary.org/obo/DOID_0050952 spastic ataxia A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_0061177 X-linked spermatogenic failure 9 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that has_material_basis_in hemizygous mutation in the RBBP7 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_0112245 focal segmental glomerulosclerosis 3 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3. http://purl.obolibrary.org/obo/DOID_0080253 Meckel syndrome 13 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality and that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0061178 autosomal recessive congenital nystagmus 8 http://purl.obolibrary.org/obo/DOID_0111797 autosomal recessive congenital nystagmus A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. http://purl.obolibrary.org/obo/DOID_0081028 glycogen-rich carcinoma http://purl.obolibrary.org/obo/DOID_3458 breast adenocarcinoma A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. http://purl.obolibrary.org/obo/DOID_0080254 orofaciodigital syndrome XVI http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0061179 Adams-Oliver syndrome 3 http://purl.obolibrary.org/obo/DOID_0060227 Adams-Oliver syndrome An Adams-Oliver syndrome that has_material_basis_in heterozygous mutation in the RBPJ gene on chromosome 4p15. http://purl.obolibrary.org/obo/SYMP_0020022 bone conduction hyperacusis http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom An ear symptom - need proper definition - placeholder for xref. http://purl.obolibrary.org/obo/DOID_0080255 Meier-Gorlin syndrome 8 http://purl.obolibrary.org/obo/DOID_0060306 Meier-Gorlin syndrome A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_0061180 familial hypercholanemia 3 http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder A steroid inherited metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the BAAT gene on chromosome 9q31. http://purl.obolibrary.org/obo/SYMP_0020024 bronchospasm http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by constriction of the air passages of the lung (as in asthma) by spasmodic contraction of the bronchial muscles. http://purl.obolibrary.org/obo/DOID_0080256 Perrault syndrome 6 http://purl.obolibrary.org/obo/DOID_0050857 Perrault syndrome A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_0061181 familial hypercholanemia 1 http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21. http://purl.obolibrary.org/obo/SYMP_0020025 caseation http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by necrosis of tissue with conversion of damaged tissue into a soft cheesy substance. http://purl.obolibrary.org/obo/DOID_0080257 autosomal recessive congenital ichthyosis 13 http://purl.obolibrary.org/obo/DOID_0060655 autosomal recessive congenital ichthyosis An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0061182 familial hypercholanemia 2 http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24. http://purl.obolibrary.org/obo/SYMP_0020027 wet cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a production and expectoration (bringing up) of mucus (phlegm) or sputum. http://purl.obolibrary.org/obo/DOID_0080258 autosomal recessive congenital ichthyosis 14 http://purl.obolibrary.org/obo/DOID_0060655 autosomal recessive congenital ichthyosis An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0061183 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A muscular disease characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported that has_material_basis_in homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12. http://purl.obolibrary.org/obo/SYMP_0020029 concentration difficulty http://purl.obolibrary.org/obo/SYMP_0000482 alteration of consciousness An alteration of consciousness that is characterized by a decreased ability to focus one's thoughts on something. Concentration difficulties can be related to difficulty staying awake, impulsiveness, intrusive thoughts or concerns, overactivity, or inattention. They can be caused by medical, cognitive or psychological problems, or, may be related to sleep disorders, medications, alcohol, or drugs. http://purl.obolibrary.org/obo/DOID_0080259 autosomal recessive spinocerebellar ataxia 25 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_0061184 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A muscular disease characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life that has_material_basis_in heterozygous mutation in the DTNA gene on chromosome 18q12. http://purl.obolibrary.org/obo/SYMP_0020030 patches of hair loss with a black dot pattern http://purl.obolibrary.org/obo/SYMP_0000440 hair loss A hair symptom that is characterized by patchy hair loss and the presence of comedo-like cadaver hairs, which appear as black dots. http://purl.obolibrary.org/obo/DOID_0080260 autosomal recessive spinocerebellar ataxia 26 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0061185 autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. http://purl.obolibrary.org/obo/SYMP_0020031 chest discomfort http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by pain, pressure, tightness, or other discomfort originating in or radiating to the chest, which constitutes an important indicator of potentially serious cardiac or cardiovascular disorders. http://purl.obolibrary.org/obo/DOID_0080261 autosomal recessive nonsyndromic deafness 106 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death that has_material_basis_in homozygous or compound heterozygous mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase. The effect of the mutation on enzyme activity results solely from a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase. http://purl.obolibrary.org/obo/DOID_0061187 multiple familial trichoepithelioma 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A facial dermatosis that has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. http://purl.obolibrary.org/obo/SYMP_0020032 chest tightness http://purl.obolibrary.org/obo/SYMP_0020031 chest discomfort A chest discomfort that is characterized by any type of pain or discomfort between your upper belly and lower neck. http://purl.obolibrary.org/obo/DOID_0080262 autosomal recessive nonsyndromic deafness 107 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0061188 autosomal recessive sensory neuropathy with spastic paraplegia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy that has_material_basis_in homozygous mutation in the CCT5 gene on chromosome 5p15.2. http://purl.obolibrary.org/obo/DOID_0080263 autosomal recessive nonsyndromic deafness 108 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_0061189 neuronal ceroid lipofuscinosis 15 http://purl.obolibrary.org/obo/DOID_14503 neuronal ceroid lipofuscinosis A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36. http://purl.obolibrary.org/obo/SYMP_0020033 paroxysmal cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a persistent cough with sudden onset due to difficulty expelling thick mucus from the tracheobronchial tree. This type of cough is associated with diseases such as Pertussis (Whooping Cough). http://purl.obolibrary.org/obo/DOID_0061190 ReNU syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0070358 primary biliary cholangitis 1 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. http://purl.obolibrary.org/obo/DOID_0070359 primary biliary cholangitis 2 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. http://purl.obolibrary.org/obo/DOID_0070360 primary biliary cholangitis 3 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. http://purl.obolibrary.org/obo/DOID_0080264 exudative vitreoretinopathy 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1. http://purl.obolibrary.org/obo/DOID_0061191 neonatal nephrocutaneous inflammatory syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11. http://purl.obolibrary.org/obo/DOID_0070361 primary biliary cholangitis 4 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. http://purl.obolibrary.org/obo/DOID_0080265 RENI syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. http://purl.obolibrary.org/obo/DOID_0061192 neonatal inflammatory skin and bowel disease 1 http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease that has_material_basis_in homozygous mutation in the ADAM17 gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_0070362 primary biliary cholangitis 5 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. http://purl.obolibrary.org/obo/DOID_0080266 primary ciliary dyskinesia 37 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0080267 autosomal dominant nonsyndromic deafness 71 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0061193 nephrotic syndrome type 26 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of proteinuria in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0081100 spastic paraplegia with deafness http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. http://purl.obolibrary.org/obo/DOID_0080268 autosomal dominant nonsyndromic deafness 72 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0061194 nephrotic syndrome type 24 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. that has_material_basis_in homozygous or compound heterozygous mutation in the DAAM2 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0081101 nonautoimmune hyperthyroidism http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_0080269 autosomal dominant nonsyndromic deafness 73 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. http://purl.obolibrary.org/obo/DOID_0061195 proximal renal tubular acidosis-ocular anomaly syndrome http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular acidosis characterized by a decreased renal HCO3- threshold that has_material_basis_in homozygous mutation in the SLC4A4 gene on chromosome 4q13. http://purl.obolibrary.org/obo/DOID_0081102 familial gestational hyperthyroidism http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_0081104 hot water epilepsy http://purl.obolibrary.org/obo/DOID_2548 reflex epilepsy A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata http://purl.obolibrary.org/obo/DOID_3390 palmoplantar keratosis A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. http://purl.obolibrary.org/obo/DOID_0081106 hot water epilepsy 1 http://purl.obolibrary.org/obo/DOID_0081104 hot water epilepsy A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3. http://purl.obolibrary.org/obo/DOID_0080270 autosomal dominant nonsyndromic deafness 34 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. http://purl.obolibrary.org/obo/DOID_0061196 Mietens syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. http://purl.obolibrary.org/obo/DOID_0081107 hot water epilepsy 2 http://purl.obolibrary.org/obo/DOID_0081104 hot water epilepsy A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28. http://purl.obolibrary.org/obo/DOID_0080271 nephrotic syndrome type 15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0080272 nephrotic syndrome type 16 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0061197 BCARD syndrome http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_0081108 keratosis palmoplantaris striata 1 http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0081109 keratosis palmoplantaris striata 2 http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24. http://purl.obolibrary.org/obo/DOID_0081110 keratosis palmoplantaris striata 3 http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0081111 osteosclerotic metaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080019 metaphyseal dysplasia A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_0080273 polycystic kidney disease 5 http://purl.obolibrary.org/obo/DOID_0110861 autosomal recessive polycystic kidney disease A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22. http://purl.obolibrary.org/obo/DOID_0061198 Bethlem myopathy 1A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Bethlem myopathy that has_material_basis_in heterozygous mutation in the COL6A1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0081112 Baraitser-Winter syndrome 1 http://purl.obolibrary.org/obo/DOID_0060229 Baraitser-Winter syndrome A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. http://purl.obolibrary.org/obo/DOID_0081113 Baraitser-Winter syndrome 2 http://purl.obolibrary.org/obo/DOID_0060229 Baraitser-Winter syndrome A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0080274 multiple mitochondrial dysfunctions syndrome 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_0061199 Bethlem myopathy 1B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A2 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0081114 benign familial infantile seizures 1 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q. http://purl.obolibrary.org/obo/DOID_0080275 Joubert syndrome 30 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0061200 Bethlem myopathy 1C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0081115 benign familial infantile seizures 2 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_0080276 Joubert syndrome 29 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0061201 Bethlem myopathy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q. http://purl.obolibrary.org/obo/DOID_0081116 benign familial infantile seizures 3 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_0080277 Joubert syndrome 31 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. http://purl.obolibrary.org/obo/DOID_0061202 congenital muscular dystrophy with rapid progression http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital muscular dystrophy characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the BET1 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0081117 benign familial infantile seizures 4 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1. http://purl.obolibrary.org/obo/DOID_0080278 Joubert syndrome 32 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0080279 Joubert syndrome 33 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. http://purl.obolibrary.org/obo/DOID_0061203 maple syrup urine disease type IA http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0081118 benign familial infantile seizures 5 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0080280 gingival fibromatosis 5 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12. http://purl.obolibrary.org/obo/DOID_0061204 dihydrolipoamide dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31. http://purl.obolibrary.org/obo/DOID_0081120 Graves ophthalmopathy http://purl.obolibrary.org/obo/DOID_0060030 autoimmune disease of eyes, ear, nose and throat An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. http://purl.obolibrary.org/obo/DOID_0080281 schizophrenia 19 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_0061205 mild variant of maple syrup urine disease http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that has_material_basis_in homozygous mutation in the PPM1K gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_0081121 inclusion body myopathy and brain white matter abnormalities http://purl.obolibrary.org/obo/DOID_0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0080282 developmental and epileptic encephalopathy 56 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. http://purl.obolibrary.org/obo/DOID_0061206 maple syrup urine disease type IB http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_0081122 Catel Manzke syndrome http://purl.obolibrary.org/obo/DOID_0080001 bone disease A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_0080283 developmental and epileptic encephalopathy 55 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0061207 maple syrup urine disease type II http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease that has_material_basis_in homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0081123 X-linked mental retardation Gustavson type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygous mutation in the RBMX gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0080284 developmental and epileptic encephalopathy 57 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_0061208 epidermolytic hyperkeratosis 2B http://purl.obolibrary.org/obo/DOID_0081359 epidermolytic hyperkeratosis 2 An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases that has_material_basis_in homozygous mutation in the KRT10 geneon chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0061209 branchiootic syndrome 1 http://purl.obolibrary.org/obo/DOID_0060232 branchiootic syndrome A branchiootic syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13. http://purl.obolibrary.org/obo/DOID_0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. http://purl.obolibrary.org/obo/DOID_0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 http://purl.obolibrary.org/obo/DOID_0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_0070370 restrictive dermopathy 2 http://purl.obolibrary.org/obo/DOID_0060762 restrictive dermopathy A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0070452 xanthinuria type I http://purl.obolibrary.org/obo/DOID_0060236 xanthinuria A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_0070453 xanthinuria type II http://purl.obolibrary.org/obo/DOID_0060236 xanthinuria A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0070454 hereditary spastic paraplegia 70 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. http://purl.obolibrary.org/obo/DOID_0080285 developmental and epileptic encephalopathy 58 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_0061210 branchiootic syndrome 3 http://purl.obolibrary.org/obo/DOID_0060232 branchiootic syndrome A branchiootic syndrome that has_material_basis_in heterozygous mutation in the SIX1 gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0070455 hereditary spastic paraplegia 79A http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. http://purl.obolibrary.org/obo/DOID_0070456 hereditary spastic paraplegia 87 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_0070457 hereditary spastic paraplegia 88 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. http://purl.obolibrary.org/obo/DOID_0080286 spinocerebellar ataxia 44 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24. http://purl.obolibrary.org/obo/DOID_0061211 Lafora disease 2 http://purl.obolibrary.org/obo/DOID_3534 Lafora disease A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22. http://purl.obolibrary.org/obo/DOID_0080287 spinocerebellar ataxia 45 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. http://purl.obolibrary.org/obo/DOID_0080288 spinocerebellar ataxia 46 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080289 orofaciodigital syndrome XVII http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. http://purl.obolibrary.org/obo/DOID_0070458 hereditary spastic paraplegia 89 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. http://purl.obolibrary.org/obo/DOID_0061212 hypocholesteremia http://purl.obolibrary.org/obo/DOID_0014667 disease of metabolism A disease of metabolism characterized by resence of abnormally low (hypo-) levels of cholesterol in the blood (-emia). http://purl.obolibrary.org/obo/DOID_0080290 familial erythrocytosis 5 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0070459 hereditary spastic paraplegia 90A http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. http://purl.obolibrary.org/obo/DOID_0061213 telomere biology disorder http://purl.obolibrary.org/obo/DOID_630 genetic disease A genetic disease that is characterized by telomeres that are longer or shorter than usual. http://purl.obolibrary.org/obo/DOID_0080291 developmental and epileptic encephalopathy 59 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0070460 hereditary spastic paraplegia 90B http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. http://purl.obolibrary.org/obo/DOID_0061214 biliary obstruction http://purl.obolibrary.org/obo/DOID_4138 bile duct disease A bile duct disease characterized by an impairment of bile flow from the liver to the small intestine due to blockage of the biliary duct system. http://purl.obolibrary.org/obo/DOID_0080292 retinitis pigmentosa 81 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A http://purl.obolibrary.org/obo/DOID_0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0061215 hepatic fibrosis http://purl.obolibrary.org/obo/DOID_409 liver disease A liver disease that is characterized by an excessive accumulation of extracellular matrix proteins that results in the development of scar tissue due to chronic inflammation or damage. http://purl.obolibrary.org/obo/DOID_0080293 short-rib thoracic dysplasia 18 with polydactyly http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B http://purl.obolibrary.org/obo/DOID_0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_0061216 pheochromocytoma/paraganglioma syndrome 1 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHD gene. http://purl.obolibrary.org/obo/DOID_0080294 Charcot-Marie-Tooth disease dominant intermediate G http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0061217 pheochromocytoma/paraganglioma syndrome 2 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHAF2 gene. http://purl.obolibrary.org/obo/DOID_0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. http://purl.obolibrary.org/obo/DOID_0080295 short-rib thoracic dysplasia 19 with or without polydactyly http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0061218 pheochromocytoma/paraganglioma syndrome 3 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHC gene. http://purl.obolibrary.org/obo/DOID_0070466 carpal tunnel syndrome 1 http://purl.obolibrary.org/obo/DOID_12169 carpal tunnel syndrome A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1. http://purl.obolibrary.org/obo/DOID_0070467 carpal tunnel syndrome 2 http://purl.obolibrary.org/obo/DOID_12169 carpal tunnel syndrome A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_0080296 hypomyelinating leukodystrophy 14 http://purl.obolibrary.org/obo/DOID_0060786 hypomyelinating leukodystrophy A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. http://purl.obolibrary.org/obo/DOID_0081373 disabling pansclerotic morphea http://purl.obolibrary.org/obo/DOID_8472 localized scleroderma A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. http://purl.obolibrary.org/obo/DOID_0061219 pheochromocytoma/paraganglioma syndrome 4 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHB gene, which encodes the iron sulfur subunit of succinate dehydrogenase, on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0061220 pheochromocytoma/paraganglioma syndrome 5 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHA gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_0080297 Coffin-Siris syndrome 6 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. http://purl.obolibrary.org/obo/DOID_0081374 nemaline myopathy 5B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. http://purl.obolibrary.org/obo/DOID_0080298 complete generalized lipodystrophy http://purl.obolibrary.org/obo/DOID_811 lipodystrophy A lipodystrophy that is characterized by complete loss of adipose tissue. http://purl.obolibrary.org/obo/DOID_0061221 pheochromocytoma/paraganglioma syndrome 6 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the SLC25A11 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0081375 nemaline myopathy 5C http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080299 partial lipodystrophy http://purl.obolibrary.org/obo/DOID_811 lipodystrophy A lipodystrophy that is characterized by partial loss of adipose tissue. http://purl.obolibrary.org/obo/DOID_0061222 pheochromocytoma/paraganglioma syndrome 7 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the DLST gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy http://purl.obolibrary.org/obo/DOID_3762 cytochrome-c oxidase deficiency disease A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. http://purl.obolibrary.org/obo/DOID_0080300 acquired generalized lipodystrophy http://purl.obolibrary.org/obo/DOID_0080298 complete generalized lipodystrophy A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. http://purl.obolibrary.org/obo/DOID_0061223 epidermolytic hyperkeratosis 2A http://purl.obolibrary.org/obo/DOID_0081359 epidermolytic hyperkeratosis 2 An epidermolytic hyperkeratosis that is characterized by blistering, keratoderma, and erythroderma that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0061224 Majeed syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia that has_material_basis_in homozygous mutation in the LPIN2 gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_0081428 autosomal recessive distal hereditary motor neuronopathy 9 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_0080301 atypical hemolytic-uremic syndrome http://purl.obolibrary.org/obo/DOID_626 complement deficiency A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. http://purl.obolibrary.org/obo/DOID_0080302 mixed sleep apnea http://purl.obolibrary.org/obo/DOID_0050847 sleep apnea A sleep apnea that is characterized by a combination of central and obstructive sleep apnea. http://purl.obolibrary.org/obo/DOID_0070636 mirror movements 1 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder characterized by mirror movements and/or agenesis of the corpus callosum that has_material_basis_in heterozygous mutation in the DCC gene on chromosome 18q21, with incomplete penetrance. http://purl.obolibrary.org/obo/DOID_0070549 primary pigmented nodular adrenocortical disease 4 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene. http://purl.obolibrary.org/obo/DOID_0080303 mucinous lung adenocarcinoma http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. http://purl.obolibrary.org/obo/DOID_0060988 pancreatic agenesis 2 http://purl.obolibrary.org/obo/DOID_0050877 pancreatic agenesis A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12. http://purl.obolibrary.org/obo/DOID_0070603 autosomal dominant nonsyndromic deafness 82 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/DOID_0061225 interleukin-1 receptor antagonist deficiency http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress that has_material_basis_in homozygous mutation in the IL1RN gene on chromosome 2q14. http://purl.obolibrary.org/obo/DOID_0070637 mirror movements 2 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_0080304 lung mucinous cystadenocarcinoma http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. http://purl.obolibrary.org/obo/DOID_0070665 lipofibromatosis http://purl.obolibrary.org/obo/DOID_0060123 connective tissue benign neoplasm A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally. http://purl.obolibrary.org/obo/DOID_0070638 mirror movements 4 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the NTN1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0080305 signet ring lung adenocarcinoma http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus. http://purl.obolibrary.org/obo/DOID_0070666 infantile myofibromatosis 1 http://purl.obolibrary.org/obo/DOID_0080109 infantile myofibromatosis An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_0080306 solid adenocarcinoma with mucin production http://purl.obolibrary.org/obo/DOID_3910 lung adenocarcinoma A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells. http://purl.obolibrary.org/obo/DOID_0070639 mirror movements 3 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder that has_material_basis_in homozygous mutation in the DNAL4 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0070667 infantile myofibromatosis 2 http://purl.obolibrary.org/obo/DOID_0080109 infantile myofibromatosis An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_60001 pulmonary artery disease http://purl.obolibrary.org/obo/DOID_850 lung disease An artery disease that is located in the lungs. http://purl.obolibrary.org/obo/DOID_0070640 hereditary spastic paraplegia 18A http://purl.obolibrary.org/obo/DOID_0110771 hereditary spastic paraplegia 18 A hereditary spastic paraplegia 18 that has_material_basis_in heterozygous mutation in the ERLIN2 gene on chromosome 8p11. http://purl.obolibrary.org/obo/DOID_0070798 infection-induced acute-onset axonal neuropathy http://purl.obolibrary.org/obo/DOID_231 motor neuron disease A motor neuron disease characterized by acute onset of progressive muscle weakness and axonal sensorimotor neuropathy following an infection or febrile episode in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the RCC1 gene on chromosome 1p35. Affected individuals may have progressive cerebral and cerebellar atrophy and may have recurrent episodes resulting in loss of ambulation, long-term ventilatory support, or early death. http://purl.obolibrary.org/obo/DOID_0080524 thyroid gland adenocarcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. http://purl.obolibrary.org/obo/DOID_0070641 hereditary spastic paraplegia 18B http://purl.obolibrary.org/obo/DOID_0110771 hereditary spastic paraplegia 18 A hereditary spastic paraplegia 18 that has_material_basis_in homozygous mutation in the ERLIN2 gene on chromosome 8p11. http://purl.obolibrary.org/obo/DOID_0070799 kyphomelic dysplasia, Itai-Ikegawa type http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by small thorax, bent long bones, short stature, and common facial dysmorphisms that has_material_basis_in heterozygous mutation in the KIF5B gene on chromosome 10p11. http://purl.obolibrary.org/obo/DOID_0080526 bronchiectasis 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_0070642 hereditary spastic paraplegia 72B http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in compound heterozygous mutation in the REEP2 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0080527 bronchiectasis 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. http://purl.obolibrary.org/obo/DOID_0070800 leukodystrophy and cerebellar atrophy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by neurodevelopmental defects, leukodystrophy, and cerebellar atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the LSM7 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070643 hereditary spastic paraplegia 91 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0080528 bronchiectasis 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel. http://purl.obolibrary.org/obo/DOID_0070801 Li-Takada-Miyake syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by prenatal-onset growth impairment, developmental delay, mild intellectual disability, speech impairment, progressive and disproportionate microcephaly or small head, facial asymmetry, congenital heart anomaly, and brain structure abnormalities that has_material_basis_in homozygous mutation in the GON4L gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0070645 hereditary spastic paraplegia 93 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0070646 hereditary spastic paraplegia 30B http://purl.obolibrary.org/obo/DOID_0110781 hereditary spastic paraplegia 30 A hereditary spastic paraplegia 30 that has_material_basis_in homozygous mutation in the KIF1A gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0070647 hereditary spastic paraplegia 30A http://purl.obolibrary.org/obo/DOID_0110781 hereditary spastic paraplegia 30 A hereditary spastic paraplegia 30 that has_material_basis_in heterozygous mutation in the KIF1A gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0070648 cherubism http://purl.obolibrary.org/obo/DOID_0080011 bone resorption disease A bone resorption disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling. http://purl.obolibrary.org/obo/DOID_0070802 Gabriele-de Vries syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the YY1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0070803 Witteveen-Kolk syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging that has_material_basis_in heterozygous mutation in the SIN3A gene on chromosome 15q24. http://purl.obolibrary.org/obo/DOID_0080530 granular corneal dystrophy 1 http://purl.obolibrary.org/obo/DOID_12318 granular corneal dystrophy A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface. http://purl.obolibrary.org/obo/DOID_0070649 cherubism 2 http://purl.obolibrary.org/obo/DOID_0070648 cherubism A cherubism that has_material_basis_in homozygous mutation in the OGFRL1 gene on chromosome 6q13. http://purl.obolibrary.org/obo/DOID_0070804 lung-brain developmental disorder http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset respiratory distress, chronic hypoxemia, diffuse parenchymal lung abnormalities on chest imaging, and developmental delay, with speech and language development more severely affected, that has_material_basis_in homozygous or compound heterozygous mutations in the TMEM63B gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0111180 French Canadian Leigh disease http://purl.obolibrary.org/obo/DOID_3762 cytochrome-c oxidase deficiency disease A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. http://purl.obolibrary.org/obo/DOID_0070650 Ramon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth. http://purl.obolibrary.org/obo/DOID_0070805 Muggenthaler-Chowdhury-Chioza syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniofacial dysmorphism, most consistently hypertelorism and a broad flat nose, myopia, and variable additional features including congenital cardiac anomalies, orofacial clefting, and hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the HYAL2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0111181 familial hemiplegic migraine 1 http://purl.obolibrary.org/obo/DOID_0060178 familial hemiplegic migraine A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. http://purl.obolibrary.org/obo/DOID_0070651 neurodevelopmental disorder with seizures and gingival overgrowth http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D2B gene on chromosome 15q24. Other more variable features include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, hypotonia, delayed development or developmental regression, cerebellar or cerebral atrophy, and enlarged brain ventricles. http://purl.obolibrary.org/obo/DOID_0070806 early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by onset in early childhood of progressive walking difficulties, progressive visual impairment and blindness due to retinitis pigmentosa, sensorineural hearing loss, demyelinating peripheral neuropathy, and severely impaired intellectual development with poor or absent speech that has_material_basis_in homozygous mutation in the KLC4 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0111182 familial hemiplegic migraine 2 http://purl.obolibrary.org/obo/DOID_0060178 familial hemiplegic migraine A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. http://purl.obolibrary.org/obo/DOID_0070652 Nil-Deshwar neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070807 neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by mild developmental delay/impaired intellectual development, variable achalasia, and peripheral motor polyneuropathy without endocrine abnormalities that has_material_basis_in homozygous mutation in the NDC1 gene (610115) on chromosome 1p32. http://purl.obolibrary.org/obo/DOID_0111183 familial hemiplegic migraine 3 http://purl.obolibrary.org/obo/DOID_0060178 familial hemiplegic migraine A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3. http://purl.obolibrary.org/obo/DOID_0070654 desmosterolosis http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32. http://purl.obolibrary.org/obo/DOID_0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 http://purl.obolibrary.org/obo/DOID_0080099 myopathy, lactic acidosis, and sideroblastic anemia A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. http://purl.obolibrary.org/obo/DOID_0070808 neurodevelopmental disorder with ataxia and brain abnormalities http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy, and bulbar dysfunction with neonatal/infantile onset that has_material_basis_in homozygous mutation in the PTPMT1 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 http://purl.obolibrary.org/obo/DOID_0080099 myopathy, lactic acidosis, and sideroblastic anemia A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. http://purl.obolibrary.org/obo/DOID_0070655 Usher syndrome type 1B http://purl.obolibrary.org/obo/DOID_0110826 Usher syndrome type 1 An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0070809 neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by behavioral phenotypes and a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities, and facial dysmorphism that has_material_basis_in heterozygous mutation in the FEM1B gene on chromosome 15q23. http://purl.obolibrary.org/obo/DOID_0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 http://purl.obolibrary.org/obo/DOID_0080099 myopathy, lactic acidosis, and sideroblastic anemia A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. http://purl.obolibrary.org/obo/DOID_0070656 hamartoma syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by the presence of multiple benign growths called hamartomas and an increased risk of cancer. http://purl.obolibrary.org/obo/DOID_0070810 neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by microcephaly, impaired intellectual development, seizures, brain abnormalities seen on MRI, and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the GTF3C3 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_0111187 distal myopathy with anterior tibial onset http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0070657 congenital variant of Rett syndrome http://purl.obolibrary.org/obo/DOID_936 brain disease A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1. http://purl.obolibrary.org/obo/DOID_0111188 myofibrillar myopathy 9 http://purl.obolibrary.org/obo/DOID_0080307 myofibrillar myopathy A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0070658 alcohol-associated liver disease http://purl.obolibrary.org/obo/DOID_409 liver disease A liver disease resulting from excessive alcohol intake. http://purl.obolibrary.org/obo/DOID_0070811 neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay, delayed walking or inability to walk, moderate to profoundly impaired intellectual development with poor or absent speech, and poor overall growth, often with microcephaly that has_material_basis_in homozygous mutation in the INPP4A gene gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_0111189 distal myopathy 3 http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0070659 alpha-gal syndrome http://purl.obolibrary.org/obo/DOID_1205 allergic disease An allergic disease that is triggered by galactose-alpha-1,3-galactose (alpha-gal). Sensitization usually results from a tick bite. Symptoms most often appear 2-6 hours after eating mammalian meat but may also be triggered by mamalian-derived products. http://purl.obolibrary.org/obo/DOID_0070812 neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early infantile onset of hypotonia, feeding difficulties, poor overall growth, dysmorphic facies, profound developmental delay, and recurrent upper and lower respiratory infections associated with agammaglobulinemia that has_material_basis_in homozygous mutation in the SEL1L gene on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_0111190 distal myopathy 4 http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. http://purl.obolibrary.org/obo/DOID_0070660 Lafora disease 1 http://purl.obolibrary.org/obo/DOID_3534 Lafora disease A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24. http://purl.obolibrary.org/obo/DOID_0070813 progressive ataxia absent speech neurodevelopmental disorder with poor growth and dysmorphic facies http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by dysmorphic facies, delayed motor development with ataxic or spastic gait, impaired intellectual development with absent speech, and poor overall growth, including microcephaly and short stature, that has_material_basis_in homozygous mutation in the SEL1L gene on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_0111191 distal myopathy Tateyama type http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0070661 muscle dysmorphic disorder http://purl.obolibrary.org/obo/DOID_0060163 body dysmorphic disorder A body dysmorphic disorder characterized by a persistent belief that one’s physique is insufficiently muscular or lean, even when having a normal-to-very muscular build. http://purl.obolibrary.org/obo/DOID_0070814 neurodevelopmental disorder with poor growth, seizures, and brain abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by poor overall growth with short stature and microcephaly, motor and speech delay, and mild-to-severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the SPOUT1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0111192 facioscapulohumeral muscular dystrophy 1 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. http://purl.obolibrary.org/obo/DOID_0070662 subcutaneous panniculitis-like T-cell lymphoma http://purl.obolibrary.org/obo/DOID_0060061 primary cutaneous T-cell non-Hodgkin lymphoma A primary cutaneous T-cell non-Hodgkin lymphoma characterized by infiltration of subcutaneous tissue by neoplastic alpha-beta cytotoxic T cells mimicking panniculitis. Homozygous or compound heterozygous mutation in the HAVCR2 gene may contribute to development of this disease, with some evidence of incomplete penetrance. http://purl.obolibrary.org/obo/DOID_0070815 neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay including delays in walking and speech development, with some having hypotonia and inability to walk unsupported and most being nonverbal, intellectual disability ranging from mild to severe, and behavioral features including aggression, hyperactivity, and autism that has_material_basis_in homozygous mutation in the NAV3 gene on chromosome 12q21. http://purl.obolibrary.org/obo/DOID_0111193 facioscapulohumeral muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. http://purl.obolibrary.org/obo/DOID_0070663 soft tissue sarcoma http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm and starts in the soft tissues of the body (e.g. fat, muscle, nerves, blood vessels). http://purl.obolibrary.org/obo/DOID_0070816 neurodevelopmental disorder with progressive spasticity and brain abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with moderate to severely impaired intellectual development, poor or absent speech, hypotonia, and delayed walking or inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the EEFSEC gene on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_0111194 autosomal dominant adult-onset proximal spinal muscular atrophy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. http://purl.obolibrary.org/obo/DOID_0070664 oropharyngeal squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma An oropharynx cancer that derives_from squamous epithelial cells. http://purl.obolibrary.org/obo/DOID_0070817 neurodevelopmental disorder with seizures and joint laxity http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development, seizures, joint hypermobility, hypotonia, macrocephaly, and failure to thrive that has_material_basis_in heterozygous mutation in the RNU5B-1 gene on chromosome 15q22. http://purl.obolibrary.org/obo/DOID_0111195 erythrokeratodermia variabilis et progressiva 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. http://purl.obolibrary.org/obo/DOID_3972 poorly differentiated thyroid carcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma characterized by intermediate follicular cell differentiation and either high mitotic activity or tumor necrosis. http://purl.obolibrary.org/obo/DOID_0070818 neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by severe intellectual disability, spastic tetraparesis, reduced vision, and epilepsy, associated with severe hydrocephalus, corpus callosum agenesis/hypoplasia, mild ventricular dilation, optic nerve hypoplasia, and white matter reduction that has_material_basis_in homozygous or compound heterozygous mutation in the FSD1L gene on chromosome 9q31. http://purl.obolibrary.org/obo/DOID_0111196 X-linked distal spinal muscular atrophy 3 http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. http://purl.obolibrary.org/obo/DOID_60004 malignant cystadenoma http://purl.obolibrary.org/obo/DOID_0080364 malignant adenoma http://purl.obolibrary.org/obo/DOID_0070819 neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by microcephaly, thinning of the corpus callosum, intellectual disability, hypotonia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the EEF1D gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. http://purl.obolibrary.org/obo/SYMP_0000128 conjunctivitis http://purl.obolibrary.org/obo/SYMP_0020034 conjunctiva symptom http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0070820 neurodevelopmental disorder with white matter abnormalities and gait disturbance http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by macrocephaly, global developmental delay, impaired intellectual development, seizures, behavioral abnormalities, hypotonia, and gait disturbance that has_material_basis_in homozygous or compound heterozygous mutation in the FAM177A1 gene on chromosome 14q13. http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_3151837 Elliovirales http://purl.obolibrary.org/obo/DOID_0111199 autosomal dominant distal hereditary motor neuronopathy 7 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. http://purl.obolibrary.org/obo/DOID_0070821 ocular pterygium-digital keloid dysplasia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by aggressive circumferential ingrowth of conjunctiva beginning in early childhood that is resistant to treatment, ultimately covering the cornea and resulting in loss of vision, and digital keloid formation after minor trauma that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32. http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_3151837 Elliovirales http://purl.obolibrary.org/obo/DOID_0111200 autosomal dominant distal hereditary motor neuronopathy 1 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. http://purl.obolibrary.org/obo/DOID_0070822 oculovertebral syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable expressivity of uveal coloboma, often associated with other ocular abnormalities, and missing vertebrae in the thoracic and/or lumber spine that has_material_basis_in heterozygous mutation in the NR6A1 gene on chromosome 9q33. http://purl.obolibrary.org/obo/NCBITaxon_32066 Fusobacteriota http://purl.obolibrary.org/obo/NCBITaxon_3384189 Fusobacteriati http://purl.obolibrary.org/obo/DOID_0111202 autosomal dominant distal hereditary motor neuronopathy 14 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. http://purl.obolibrary.org/obo/DOID_0070823 Paul-Chao neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, delayed walking, variably impaired intellectual development, and poor or absent speech that has_material_basis_in heterozygous mutation in the PPFIA3 gene on chromosome 19q13. http://purl.obolibrary.org/obo/CHEBI_204928 cefotaxime http://purl.obolibrary.org/obo/CHEBI_38418 1,3-thiazoles http://purl.obolibrary.org/obo/DOID_0111203 autosomal dominant distal hereditary motor neuronopathy 5 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. http://purl.obolibrary.org/obo/DOID_0070824 spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by short stature, a general delay in bone maturation and epiphyseal ossification, and features suggestive of ectodermal dysplasia, including conical teeth and/or early tooth decay and sparse hair, that has_material_basis_in homozygous or compound heterozygous mutation in the MIMS1 gene on chromosome 18p11. http://purl.obolibrary.org/obo/CHEBI_355510 cefotiam http://purl.obolibrary.org/obo/CHEBI_72588 semisynthetic derivative http://purl.obolibrary.org/obo/DOID_0111205 autosomal dominant distal hereditary motor neuronopathy 12 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. http://purl.obolibrary.org/obo/DOID_0070825 spondyloepiphyseal dysplasia, Holling type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by disproportionate short stature and abnormalities of both the axial and appendicular skeleton with epiphyseal anomalies most prominent that has_material_basis_in homozygous mutation in the BNIP1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/CHEBI_3478 cefaclor http://purl.obolibrary.org/obo/CHEBI_23066 cephalosporin http://purl.obolibrary.org/obo/DOID_0111206 autosomal dominant distal hereditary motor neuronopathy 2 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0070826 Tayoun-Maawali syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by growth restriction, neurodevelopmental delay, and craniofacial abnormalities that has_material_basis_in homozygous mutation in the FBXO22 gene on chromosome 15q24. http://purl.obolibrary.org/obo/CHEBI_3508 ceftazidime http://purl.obolibrary.org/obo/CHEBI_36816 oxime O-ether http://purl.obolibrary.org/obo/DOID_0111207 autosomal dominant distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. http://purl.obolibrary.org/obo/DOID_0070827 X-linked female-restricted neurodegenerative disorder with Parkinsonism and cognitive impairment http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A Parkinsonism that occurs in females characterized by progressive parkinsonism movement abnormalities associated with variable cognitive impairment and/or psychiatric abnormalities that has_material_basis_in heterozygous mutation in the SLC9A6 gene on chromosome Xq26. http://purl.obolibrary.org/obo/CHEBI_472657 cefixime http://purl.obolibrary.org/obo/CHEBI_23066 cephalosporin http://purl.obolibrary.org/obo/DOID_0111209 autosomal dominant distal hereditary motor neuronopathy 4 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. http://purl.obolibrary.org/obo/DOID_0070828 X-linked retinal dystrophy, Gardner-Hardcastle type http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration A retinal degeneration characterized by early childhood onset of night blindness or light sensitivity, reduced visual acuity, and variable maculopathy with foveal hypoplasia that has_material_basis_in hemizygous interchromosomal insertion at chromosome Xq27. http://purl.obolibrary.org/obo/CHEBI_474859 maleic anhydride http://purl.obolibrary.org/obo/CHEBI_36609 cyclic dicarboxylic anhydride http://purl.obolibrary.org/obo/DOID_0111210 autosomal dominant distal hereditary motor neuronopathy 6 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. http://purl.obolibrary.org/obo/DOID_0070829 microcephaly, epilepsy, and diabetes syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by microcephaly, epilepsy, and infantile diabetes. http://purl.obolibrary.org/obo/CHEBI_3515 cefuroxime http://purl.obolibrary.org/obo/CHEBI_28084 3-(carbamoyloxymethyl)cephalosporin http://purl.obolibrary.org/obo/DOID_0070830 microcephaly, epilepsy, and diabetes syndrome 1 http://purl.obolibrary.org/obo/DOID_0070829 microcephaly, epilepsy, and diabetes syndrome A microcephaly, epilepsy, and diabetes syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0111211 autosomal recessive distal hereditary motor neuronopathy 3 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. http://purl.obolibrary.org/obo/CHEBI_8107 phenytoin http://purl.obolibrary.org/obo/CHEBI_24628 imidazolidine-2,4-dione http://purl.obolibrary.org/obo/DOID_0070831 microcephaly, epilepsy, and diabetes syndrome 2 http://purl.obolibrary.org/obo/DOID_0070829 microcephaly, epilepsy, and diabetes syndrome A microcephaly, epilepsy, and diabetes syndrome that has_material_basis_in homozygous mutation in the YIPF5 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0111212 autosomal dominant distal hereditary motor neuronopathy 9 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. http://purl.obolibrary.org/obo/CHEBI_37668 terpene lactone http://purl.obolibrary.org/obo/CHEBI_26873 terpenoid http://purl.obolibrary.org/obo/DOID_0070832 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by developmental delay, microcephaly, impaired speech and ambulation, epilepsy, and cortical malformations, with a relatively wide spectrum of severity ranging from early death to intellectual disability with mild motor impairment, that has_material_basis_in homozygous or compound heterozygous mutation in the TMX2 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_0111213 autosomal recessive distal hereditary motor neuronopathy 4 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. http://purl.obolibrary.org/obo/DOID_0111214 autosomal recessive distal hereditary motor neuronopathy 5 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. http://purl.obolibrary.org/obo/CHEBI_35618 aromatic ether http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/ENVO_00002003 fecal material http://purl.obolibrary.org/obo/CHEBI_50904 allergen An excreta material which is composed primarily of feces, an excreta consisting of waste products expelled from an animal's digestive tract through the anus (or cloaca) during defecation. http://purl.obolibrary.org/obo/DOID_0111215 autosomal dominant distal hereditary motor neuronopathy 8 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. http://purl.obolibrary.org/obo/CHEBI_17522 alditol http://purl.obolibrary.org/obo/CHEBI_16646 carbohydrate http://purl.obolibrary.org/obo/CHEBI_36709 aminoquinoline http://purl.obolibrary.org/obo/CHEBI_33860 aromatic amine http://purl.obolibrary.org/obo/ENVO_2000004 algal bloom http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A feature that arises from a rapid increase or accumulation in the population of algae (typically microscopic) in an aquatic system. http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy http://purl.obolibrary.org/obo/DOID_14717 centronuclear myopathy A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. http://purl.obolibrary.org/obo/CHEBI_167099 benzo[d]isothiazol-3-one http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compound http://purl.obolibrary.org/obo/SYMP_0000838 breakthrough pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by occurring with movement and is not controlled by a scheduled pain medication regimen, such that the pain breaks through the current regimen. This is usually referred to in the context of a short and long acting opioid, the short acting opioid being used to treat the breakthrough pain. http://purl.obolibrary.org/obo/DOID_0111217 autosomal dominant centronuclear myopathy http://purl.obolibrary.org/obo/DOID_14717 centronuclear myopathy A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/CHEBI_35875 imidazopyrimidine http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/SYMP_0000000 cellulitis http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom Cellulitis is a musculoskeletal system symptom characterized as a diffuse and especially subcutaneous inflammation of connective tissue. http://purl.obolibrary.org/obo/DOID_0111218 Friedreich ataxia 1 http://purl.obolibrary.org/obo/DOID_12705 Friedreich ataxia A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. http://purl.obolibrary.org/obo/CHEBI_35358 sulfonamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/NCIT_C689 Niacin http://purl.obolibrary.org/obo/CHEBI_33229 vitamin (role) A water-soluble vitamin belonging to the vitamin B family, which occurs in many animal and plant tissues, with antihyperlipidemic activity. Niacin is converted to its active form niacinamide, which is a component of the coenzymes nicotinamide adenine dinucleotide (NAD) and its phosphate form, NADP. These coenzymes play an important role in tissue respiration and in glycogen, lipid, amino acid, protein, and purine metabolism. Although the exact mechanism of action by which niacin lowers cholesterol is not fully understood, it may act by inhibiting the synthesis of very low density lipoproteins (VLDL), inhibiting the release of free fatty acids from adipose tissue, increasing lipoprotein lipase activity, and reducing the hepatic synthesis of VLDL-C and LDL-C. http://purl.obolibrary.org/obo/NCIT_C809 Ricin http://purl.obolibrary.org/obo/CHEBI_27026 toxin A phytotoxin and lectin comprised of a homodimer of ricin toxin A and B chains derived from the seeds of Ricinus communis, the castor oil plant, with protein synthesis inhibitory activity and extremely high cytotoxicity. Following ingestion, inhalation or injection of ricin, the B chain binds to complex carbohydrates containing either terminal N-acetylgalactosamine or beta-1,4-linked galactose residues on the surface of cells. Subsequently, the ricin A/B heterodimer is internalized and undergoes retrograde transport to the endoplasmic reticulum (ER). In the ER, the A chain, which has enzymatic activity that is sterically hindered by the B chain, is proteolytically released from the heterodimer by protein disulfide isomerase. In the ER, the free A chain has N-glycosidase activity that cleaves 28S rRNA. This enzymatic cleavage disrupts the ribosome, halts protein synthesis, and can lead to cell death. The extreme cytotoxicity of ricin makes it an attractive candidate for artificial fusion with binding proteins to create cell-type-specific toxins. http://purl.obolibrary.org/obo/DOID_0111219 Friedreich ataxia 2 http://purl.obolibrary.org/obo/DOID_12705 Friedreich ataxia A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. http://purl.obolibrary.org/obo/CHEBI_50492 thiocarbonyl compound http://purl.obolibrary.org/obo/CHEBI_33261 organosulfur compound http://purl.obolibrary.org/obo/ENVO_01001297 cyclone http://purl.obolibrary.org/obo/ExO_0000007 ecological perturbation An atmospheric storm during which a large mass of atmospheric gas rotates around a centre of low atmospheric pressure, generating high winds which spiral towards that centre. http://purl.obolibrary.org/obo/DOID_0111220 centronuclear myopathy 2 http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. http://purl.obolibrary.org/obo/CHEBI_16385 organic sulfide http://purl.obolibrary.org/obo/CHEBI_26822 sulfide http://purl.obolibrary.org/obo/CHEBI_33853 phenols http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/DOID_0040104 toluene 2,4-diisocyanate allergic asthma http://purl.obolibrary.org/obo/DOID_0040043 toluene meta-diisocyanate allergic asthma A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. http://purl.obolibrary.org/obo/DOID_0111221 centronuclear myopathy 6 with fiber-type disproportion http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. http://purl.obolibrary.org/obo/CHEBI_38831 2-benzofurans http://purl.obolibrary.org/obo/CHEBI_35259 benzofurans http://purl.obolibrary.org/obo/DOID_0070000 3-methylglutaconic aciduria type 8 http://purl.obolibrary.org/obo/DOID_0060336 3-methylglutaconic aciduria A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0111222 centronuclear myopathy 5 http://purl.obolibrary.org/obo/DOID_0111216 autosomal recessive centronuclear myopathy An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. http://purl.obolibrary.org/obo/CHEBI_34718 1-chloro-2,4-dinitrobenzene http://purl.obolibrary.org/obo/CHEBI_83403 monochlorobenzenes http://purl.obolibrary.org/obo/DOID_0070002 3-methylglutaconic aciduria type 9 http://purl.obolibrary.org/obo/DOID_0060336 3-methylglutaconic aciduria A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0111223 centronuclear myopathy 1 http://purl.obolibrary.org/obo/DOID_0111217 autosomal dominant centronuclear myopathy An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. http://purl.obolibrary.org/obo/CHEBI_53050 trimellitic anhydride http://purl.obolibrary.org/obo/CHEBI_38831 2-benzofurans http://purl.obolibrary.org/obo/DOID_0070163 spermatogenic failure 21 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. http://purl.obolibrary.org/obo/DOID_0111224 centronuclear myopathy 4 http://purl.obolibrary.org/obo/DOID_0111217 autosomal dominant centronuclear myopathy An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. http://purl.obolibrary.org/obo/CHEBI_36605 phthalic anhydride http://purl.obolibrary.org/obo/CHEBI_38831 2-benzofurans http://purl.obolibrary.org/obo/DOID_0070164 spermatogenic failure 2 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_0111225 centronuclear myopathy X-linked http://purl.obolibrary.org/obo/DOID_14717 centronuclear myopathy A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. http://purl.obolibrary.org/obo/CHEBI_24995 lactam http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/DOID_0111226 X-linked congenital myopathy with fiber-type disproportion http://purl.obolibrary.org/obo/DOID_0080102 congenital myopathy 4A A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. http://purl.obolibrary.org/obo/DOID_0070165 spermatogenic failure 18 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/CHEBI_26151 piperidines http://purl.obolibrary.org/obo/CHEBI_25693 organic heteromonocyclic compound http://purl.obolibrary.org/obo/DOID_0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 http://purl.obolibrary.org/obo/DOID_332 amyotrophic lateral sclerosis A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. http://purl.obolibrary.org/obo/DOID_0070166 spermatogenic failure 20 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. http://purl.obolibrary.org/obo/CHEBI_26421 pyridines http://purl.obolibrary.org/obo/CHEBI_25693 organic heteromonocyclic compound http://purl.obolibrary.org/obo/DOID_0111228 Sveinsson chorioretinal atrophy http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. http://purl.obolibrary.org/obo/CHEBI_50893 azaarene http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/DOID_0070167 spermatogenic failure 6 http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. http://purl.obolibrary.org/obo/CHEBI_26961 thiophenes http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/DOID_0070168 spermatogenic failure 3 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0111230 congenital muscular dystrophy-dystroglycanopathy type A11 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. http://purl.obolibrary.org/obo/CHEBI_48901 thiazoles http://purl.obolibrary.org/obo/CHEBI_68452 azole http://purl.obolibrary.org/obo/DOID_0070169 spermatogenic failure 8 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. http://purl.obolibrary.org/obo/DOID_0111231 congenital muscular dystrophy-dystroglycanopathy type A8 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. http://purl.obolibrary.org/obo/CHEBI_46770 pyrrolidinecarboxamide http://purl.obolibrary.org/obo/CHEBI_29347 monocarboxylic acid amide http://purl.obolibrary.org/obo/CHEBI_55370 imidazolidinone http://purl.obolibrary.org/obo/CHEBI_38261 imidazolidines http://purl.obolibrary.org/obo/DOID_0070170 spermatogenic failure 19 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. http://purl.obolibrary.org/obo/DOID_0111232 congenital muscular dystrophy-dystroglycanopathy type A9 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. http://purl.obolibrary.org/obo/CHEBI_161680 aztreonam http://purl.obolibrary.org/obo/CHEBI_88225 beta-lactam antibiotic allergen http://purl.obolibrary.org/obo/DOID_0070171 spermatogenic failure 12 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_0111233 congenital muscular dystrophy-dystroglycanopathy type A14 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. http://purl.obolibrary.org/obo/CHEBI_138412 N,N'-diphenylthiourea http://purl.obolibrary.org/obo/CHEBI_51276 thioureas http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/DOID_0111234 congenital muscular dystrophy-dystroglycanopathy type A7 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. http://purl.obolibrary.org/obo/DOID_0070172 spermatogenic failure 15 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/DOID_0111235 congenital muscular dystrophy-dystroglycanopathy type A12 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. http://purl.obolibrary.org/obo/DOID_0070173 spermatogenic failure 7 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. http://purl.obolibrary.org/obo/CHEBI_88187 penicillin allergen http://purl.obolibrary.org/obo/CHEBI_17334 penicillin http://purl.obolibrary.org/obo/DOID_0111236 congenital muscular dystrophy-dystroglycanopathy type A3 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. http://purl.obolibrary.org/obo/DOID_0070174 spermatogenic failure 17 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. http://purl.obolibrary.org/obo/CHEBI_8232 piperacillin http://purl.obolibrary.org/obo/CHEBI_88187 penicillin allergen http://purl.obolibrary.org/obo/DOID_0111237 congenital muscular dystrophy-dystroglycanopathy type A1 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. http://purl.obolibrary.org/obo/DOID_0111238 congenital muscular dystrophy-dystroglycanopathy type A13 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. http://purl.obolibrary.org/obo/DOID_0070176 spermatogenic failure 4 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0111239 congenital muscular dystrophy-dystroglycanopathy type A10 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. http://purl.obolibrary.org/obo/CHEBI_48975 substituted aniline http://purl.obolibrary.org/obo/CHEBI_22562 anilines http://purl.obolibrary.org/obo/DOID_0070177 spermatogenic failure 22 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0111240 congenital muscular dystrophy-dystroglycanopathy type A2 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/DOID_0070178 spermatogenic failure 10 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0111241 congenital muscular dystrophy-dystroglycanopathy type A5 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_25367 molecule http://purl.obolibrary.org/obo/DOID_0070179 spermatogenic failure 14 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by male infertility due to azoospermia with sperm maturation arrest in the spermatid stage that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0111242 congenital muscular dystrophy-dystroglycanopathy type A6 http://purl.obolibrary.org/obo/DOID_0111229 congenital muscular dystrophy-dystroglycanopathy type A A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. http://purl.obolibrary.org/obo/CHEBI_53444 potassium dichromate http://purl.obolibrary.org/obo/CHEBI_26218 potassium salt http://purl.obolibrary.org/obo/DOID_0070180 spermatogenic failure 11 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0111243 acromicric dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/DOID_0070181 spermatogenic failure 23 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0111244 palmoplantar keratoderma and congenital alopecia 1 http://purl.obolibrary.org/obo/DOID_0080015 physical disorder An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. http://purl.obolibrary.org/obo/CHEBI_8884 rocuronium http://purl.obolibrary.org/obo/CHEBI_50996 tertiary amino compound http://purl.obolibrary.org/obo/CHEBI_53731 remazole black-GR http://purl.obolibrary.org/obo/CHEBI_48960 bis(azo) compound http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/DOID_0070182 spermatogenic failure 13 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. http://purl.obolibrary.org/obo/DOID_0111245 palmoplantar keratoderma and congenital alopecia 2 http://purl.obolibrary.org/obo/DOID_0080015 physical disorder An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. http://purl.obolibrary.org/obo/CHEBI_32955 epoxide http://purl.obolibrary.org/obo/CHEBI_37407 cyclic ether http://purl.obolibrary.org/obo/CHEBI_26979 organic heterotricyclic compound http://purl.obolibrary.org/obo/CHEBI_36688 heterotricyclic compound http://purl.obolibrary.org/obo/CHEBI_140310 phenyl acetates http://purl.obolibrary.org/obo/CHEBI_22712 benzenes http://purl.obolibrary.org/obo/DOID_0070183 spermatogenic failure 5 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070184 spermatogenic failure 16 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. http://purl.obolibrary.org/obo/CHEBI_31635 neomycin sulfate http://purl.obolibrary.org/obo/CHEBI_60004 mixture http://purl.obolibrary.org/obo/DOID_0070185 X-linked spermatogenic failure 2 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. http://purl.obolibrary.org/obo/DOID_0111247 hypertension and brachydactyly syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. http://purl.obolibrary.org/obo/CHEBI_5516 sodium aurothiomalate http://purl.obolibrary.org/obo/CHEBI_60004 mixture http://purl.obolibrary.org/obo/DOID_0070186 Y-linked spermatogenic failure 1 http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. http://purl.obolibrary.org/obo/DOID_0111248 cerebrocostomandibular syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. http://purl.obolibrary.org/obo/CHEBI_22925 bromide salt http://purl.obolibrary.org/obo/CHEBI_33958 halide salt http://purl.obolibrary.org/obo/DOID_0070187 Y-linked spermatogenic failure 2 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. http://purl.obolibrary.org/obo/DOID_0111249 uveal coloboma-cleft lip and palate-intellectual disability http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1. http://purl.obolibrary.org/obo/DOID_0111250 Parkinson's disease 3 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. http://purl.obolibrary.org/obo/CHEBI_23697 dichlorobenzene http://purl.obolibrary.org/obo/CHEBI_23132 chlorobenzenes http://purl.obolibrary.org/obo/DOID_0070188 spermatogenic failure 1 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. http://purl.obolibrary.org/obo/DOID_0111251 Parkinson's disease 21 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. http://purl.obolibrary.org/obo/CHEBI_26888 tetrachlorobenzene http://purl.obolibrary.org/obo/CHEBI_23132 chlorobenzenes http://purl.obolibrary.org/obo/DOID_0070189 X-linked spermatogenic failure 1 http://purl.obolibrary.org/obo/DOID_0050457 Sertoli cell-only syndrome A Sertoli cell-only syndrome characterized by X-linked inheritance. http://purl.obolibrary.org/obo/DOID_0111252 vestibular schwannomatosis http://purl.obolibrary.org/obo/DOID_3204 schwannomatosis A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. http://purl.obolibrary.org/obo/CHEBI_83403 monochlorobenzenes http://purl.obolibrary.org/obo/CHEBI_23132 chlorobenzenes http://purl.obolibrary.org/obo/DOID_0070191 autosomal recessive chronic granulomatous disease 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity http://purl.obolibrary.org/obo/DOID_0111253 neurofibromatosis 1 http://purl.obolibrary.org/obo/DOID_8712 neurofibromatosis A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. http://purl.obolibrary.org/obo/DOID_0070192 autosomal recessive chronic granulomatous disease 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. http://purl.obolibrary.org/obo/CHEBI_59999 chemical substance http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://purl.obolibrary.org/obo/DOID_0111254 glutaric acidemia I http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070193 autosomal recessive chronic granulomatous disease 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. http://purl.obolibrary.org/obo/DOID_0111255 McKusick-Kaufman syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. http://purl.obolibrary.org/obo/CHEBI_23117 chlorine molecular entity http://purl.obolibrary.org/obo/CHEBI_24471 halogen molecular entity http://purl.obolibrary.org/obo/DOID_0070194 autosomal recessive chronic granulomatous disease 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_0111256 hyperferritinemia-cataract syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. http://purl.obolibrary.org/obo/CHEBI_37578 halide http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/DOID_0070195 X-linked chronic granulomatous disease http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. http://purl.obolibrary.org/obo/DOID_0111257 gamma-glutamyl transpeptidase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/DOID_0070196 infantile-onset distal myopathy http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. http://purl.obolibrary.org/obo/DOID_0111258 pentosuria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. http://purl.obolibrary.org/obo/CHEBI_38104 oxacycle http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/DOID_0070197 distal myopathy 1 http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/DOID_0111259 postaxial acrofacial dysostosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/DOID_0111260 phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. http://purl.obolibrary.org/obo/DOID_0111261 fumarase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. http://purl.obolibrary.org/obo/CHEBI_24868 organic salt http://purl.obolibrary.org/obo/CHEBI_24866 salt http://purl.obolibrary.org/obo/DOID_0070199 Miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. http://purl.obolibrary.org/obo/CHEBI_35479 alkali metal salt http://purl.obolibrary.org/obo/CHEBI_33296 alkali metal molecular entity http://purl.obolibrary.org/obo/DOID_0070200 Miyoshi muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. http://purl.obolibrary.org/obo/CHEBI_36389 saturated organic heteromonocyclic parent http://purl.obolibrary.org/obo/CHEBI_36388 saturated organic heterocyclic parent http://purl.obolibrary.org/obo/DOID_0111263 combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/DOID_0060159 organic acidemia An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. http://purl.obolibrary.org/obo/DOID_0070201 Miyoshi muscular dystrophy 3 http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. http://purl.obolibrary.org/obo/DOID_0111264 Ruijs-Aalfs syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. http://purl.obolibrary.org/obo/DOID_0070202 familial partial lipodystrophy type 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0070333 breast implant-associated anaplastic large cell lymphoma http://purl.obolibrary.org/obo/DOID_0050749 peripheral T-cell lymphoma A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. http://purl.obolibrary.org/obo/CHEBI_25697 organic cation http://purl.obolibrary.org/obo/CHEBI_36916 cation http://purl.obolibrary.org/obo/DOID_0070203 familial partial lipodystrophy type 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0080589 Klippel-Feil syndrome 1 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/CHEBI_36962 organochalcogen compound http://purl.obolibrary.org/obo/CHEBI_38700 organic sodium salt http://purl.obolibrary.org/obo/CHEBI_24868 organic salt http://purl.obolibrary.org/obo/CHEBI_26658 sesquiterpenoid http://purl.obolibrary.org/obo/CHEBI_26873 terpenoid http://purl.obolibrary.org/obo/DOID_0070204 familial partial lipodystrophy type 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0080590 Klippel-Feil syndrome 2 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0080591 Klippel-Feil syndrome 3 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13. http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/CHEBI_32988 amide http://purl.obolibrary.org/obo/DOID_0070205 familial partial lipodystrophy type 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_0080592 Klippel-Feil syndrome 4 http://purl.obolibrary.org/obo/DOID_10426 Klippel-Feil syndrome A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12. http://purl.obolibrary.org/obo/CHEBI_35507 natural product fundamental parent http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent http://purl.obolibrary.org/obo/DOID_0070206 familial partial lipodystrophy type 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080593 orofacial cleft 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32. http://purl.obolibrary.org/obo/CHEBI_35552 heterocyclic organic fundamental parent http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent http://purl.obolibrary.org/obo/DOID_0070207 familial partial lipodystrophy type 1 http://purl.obolibrary.org/obo/DOID_0050440 familial partial lipodystrophy A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity http://purl.obolibrary.org/obo/DOID_0080594 hyper IgE recurrent infection syndrome 2 http://purl.obolibrary.org/obo/DOID_0080545 hyper IgE syndrome A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_0070208 hereditary lymphedema IC http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. http://purl.obolibrary.org/obo/CHEBI_86494 botanical anti-fungal agent http://purl.obolibrary.org/obo/CHEBI_33285 heteroorganic entity http://purl.obolibrary.org/obo/DOID_0080595 autosomal recessive hyper-IgE syndrome 3 with recurrent infections http://purl.obolibrary.org/obo/DOID_0080545 hyper IgE syndrome A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_0070209 hereditary lymphedema ID http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. http://purl.obolibrary.org/obo/DOID_0070210 hereditary lymphedema IA http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0070211 hereditary lymphedema IB http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/DOID_0080596 hyper IgE recurrent infection syndrome 4 http://purl.obolibrary.org/obo/DOID_0080545 hyper IgE syndrome A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. http://purl.obolibrary.org/obo/DOID_0070212 hereditary lymphedema I http://purl.obolibrary.org/obo/DOID_0050580 hereditary lymphedema A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. http://purl.obolibrary.org/obo/DOID_0070213 hereditary lymphedema II http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/DOID_0111505 palmoplantar keratoderma-deafness syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. http://purl.obolibrary.org/obo/DOID_0111506 palmoplantar keratoderma-esophageal carcinoma syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_0070214 familial hyperinsulinemic hypoglycemia 7 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. http://purl.obolibrary.org/obo/DOID_0070215 familial hyperinsulinemic hypoglycemia 4 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CHEBI_33521 metal atom http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/CHEBI_33521 metal atom http://purl.obolibrary.org/obo/DOID_0111507 Lenz-Majewski hyperostotic dwarfism http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_0070216 familial hyperinsulinemic hypoglycemia 3 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/CHEBI_33582 carbon group molecular entity http://purl.obolibrary.org/obo/DOID_0111508 Torrance type platyspondylic dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. http://purl.obolibrary.org/obo/DOID_0111509 lymphedema-distichiasis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/DOID_0070217 familial hyperinsulinemic hypoglycemia 6 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/DOID_0111510 Marshall syndrome http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. http://purl.obolibrary.org/obo/DOID_0070218 familial hyperinsulinemic hypoglycemia 2 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/DOID_0111511 melanoma and neural system tumor syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. http://purl.obolibrary.org/obo/DOID_0070219 familial hyperinsulinemic hypoglycemia 1 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. http://purl.obolibrary.org/obo/CHEBI_51958 organic polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/DOID_0111512 metachondromatosis http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. http://purl.obolibrary.org/obo/DOID_0070220 familial hyperinsulinemic hypoglycemia 5 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. http://purl.obolibrary.org/obo/CHEBI_51402 phenylenediamine http://purl.obolibrary.org/obo/CHEBI_33860 aromatic amine http://purl.obolibrary.org/obo/DOID_0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis http://purl.obolibrary.org/obo/DOID_1852 intrahepatic cholestasis An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. http://purl.obolibrary.org/obo/CHEBI_25865 penicillanic acids http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/DOID_0111514 metatropic dysplasia http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. http://purl.obolibrary.org/obo/DOID_0070222 progressive familial intrahepatic cholestasis 2 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. http://purl.obolibrary.org/obo/CHEBI_48960 bis(azo) compound http://purl.obolibrary.org/obo/CHEBI_37533 azo compound http://purl.obolibrary.org/obo/DOID_0070223 progressive familial intrahepatic cholestasis 3 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. http://purl.obolibrary.org/obo/DOID_0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. http://purl.obolibrary.org/obo/CHEBI_22682 azobenzenes http://purl.obolibrary.org/obo/CHEBI_22712 benzenes http://purl.obolibrary.org/obo/DOID_0070224 progressive familial intrahepatic cholestasis 4 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. http://purl.obolibrary.org/obo/CHEBI_33241 oxoacid derivative http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/DOID_0070225 progressive familial intrahepatic cholestasis 5 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. http://purl.obolibrary.org/obo/DOID_0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. http://purl.obolibrary.org/obo/CHEBI_35274 ammonium ion derivative http://purl.obolibrary.org/obo/CHEBI_33702 polyatomic cation http://purl.obolibrary.org/obo/DOID_0070226 progressive familial intrahepatic cholestasis 1 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. http://purl.obolibrary.org/obo/CHEBI_35790 oxazole http://purl.obolibrary.org/obo/CHEBI_38104 oxacycle http://purl.obolibrary.org/obo/DOID_0070227 intrahepatic cholestasis of pregnancy http://purl.obolibrary.org/obo/DOID_1852 intrahepatic cholestasis An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. http://purl.obolibrary.org/obo/DOID_0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. http://purl.obolibrary.org/obo/CHEBI_84144 L-phenylalanine derivative http://purl.obolibrary.org/obo/CHEBI_25985 phenylalanine derivative http://purl.obolibrary.org/obo/DOID_0070228 intrahepatic cholestasis of pregnancy 1 http://purl.obolibrary.org/obo/DOID_0070227 intrahepatic cholestasis of pregnancy An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/CHEBI_83925 non-proteinogenic alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/DOID_0070229 intrahepatic cholestasis of pregnancy 3 http://purl.obolibrary.org/obo/DOID_0070227 intrahepatic cholestasis of pregnancy An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0111521 autosomal dominant progressive external ophthalmoplegia 1 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/CHEBI_39447 pyrimidines http://purl.obolibrary.org/obo/CHEBI_38313 diazines http://purl.obolibrary.org/obo/DOID_0070230 benign recurrent intrahepatic cholestasis http://purl.obolibrary.org/obo/DOID_1852 intrahepatic cholestasis An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. http://purl.obolibrary.org/obo/DOID_0111522 autosomal recessive progressive external ophthalmoplegia 1 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/CHEBI_38785 morpholines http://purl.obolibrary.org/obo/CHEBI_46952 oxazinane http://purl.obolibrary.org/obo/DOID_0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_0070231 benign recurrent intrahepatic cholestasis 1 http://purl.obolibrary.org/obo/DOID_0070230 benign recurrent intrahepatic cholestasis A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. http://purl.obolibrary.org/obo/HP_0008665 Clitoral hypertrophy http://purl.obolibrary.org/obo/HP_0040253 Increased size of the clitoris http://purl.obolibrary.org/obo/DOID_0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_0070232 benign recurrent intrahepatic cholestasis 2 http://purl.obolibrary.org/obo/DOID_0070230 benign recurrent intrahepatic cholestasis A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. http://purl.obolibrary.org/obo/NCBITaxon_160 Treponema pallidum http://purl.obolibrary.org/obo/NCBITaxon_157 Treponema http://purl.obolibrary.org/obo/DOID_0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/DOID_0070233 Loeys-Dietz syndrome 4 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. http://purl.obolibrary.org/obo/NCBITaxon_6181 Schistosoma http://purl.obolibrary.org/obo/NCBITaxon_31245 Schistosomatidae http://purl.obolibrary.org/obo/DOID_0111526 Mullerian aplasia and hyperandrogenism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. http://purl.obolibrary.org/obo/DOID_0070234 Loeys-Dietz syndrome 2 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. http://purl.obolibrary.org/obo/NCBITaxon_63405 Microsporum canis http://purl.obolibrary.org/obo/NCBITaxon_34392 Microsporum http://purl.obolibrary.org/obo/DOID_0111527 spinal muscular atrophy with progressive myoclonic epilepsy http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. http://purl.obolibrary.org/obo/DOID_0070235 Loeys-Dietz syndrome 1 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/NCBITaxon_43075 Trichomonas tenax http://purl.obolibrary.org/obo/NCBITaxon_5721 Trichomonas http://purl.obolibrary.org/obo/DOID_0111528 Naegeli-Franceschetti-Jadassohn syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/NCBITaxon_5722 Trichomonas vaginalis http://purl.obolibrary.org/obo/NCBITaxon_5721 Trichomonas http://purl.obolibrary.org/obo/DOID_0070236 Loeys-Dietz syndrome 5 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. http://purl.obolibrary.org/obo/NCBITaxon_666 Vibrio cholerae http://purl.obolibrary.org/obo/NCBITaxon_662 Vibrio http://purl.obolibrary.org/obo/DOID_0111529 familial multiple nevi flammei http://purl.obolibrary.org/obo/DOID_1271 capillary disease A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. http://purl.obolibrary.org/obo/DOID_0070237 Loeys-Dietz syndrome 3 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. http://purl.obolibrary.org/obo/NCBITaxon_5758 Entamoeba http://purl.obolibrary.org/obo/NCBITaxon_33084 Entamoebidae http://purl.obolibrary.org/obo/DOID_0111530 linear nevus sebaceous syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. http://purl.obolibrary.org/obo/DOID_0070238 primary coenzyme Q10 deficiency 1 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. http://purl.obolibrary.org/obo/NCBITaxon_5500 Coccidioides http://purl.obolibrary.org/obo/NCBITaxon_33184 Onygenaceae http://purl.obolibrary.org/obo/DOID_0111531 bilateral optic nerve hypoplasia http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_0070239 primary coenzyme Q10 deficiency 2 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. http://purl.obolibrary.org/obo/NCBITaxon_6282 Onchocerca volvulus http://purl.obolibrary.org/obo/NCBITaxon_6281 Onchocerca http://purl.obolibrary.org/obo/DOID_0111532 osteoglophonic dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. http://purl.obolibrary.org/obo/DOID_0070240 primary coenzyme Q10 deficiency 3 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. http://purl.obolibrary.org/obo/NCBITaxon_116925 Troglotremata http://purl.obolibrary.org/obo/NCBITaxon_27871 Plagiorchiida http://purl.obolibrary.org/obo/DOID_0111533 gnathodiaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. http://purl.obolibrary.org/obo/DOID_0070241 primary coenzyme Q10 deficiency 4 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. http://purl.obolibrary.org/obo/NCBITaxon_12721 Human immunodeficiency virus http://purl.obolibrary.org/obo/NCBITaxon_348386 unclassified Lentivirus http://purl.obolibrary.org/obo/DOID_0111534 multicentric carpotarsal osteolysis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. http://purl.obolibrary.org/obo/DOID_0070242 primary coenzyme Q10 deficiency 5 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy http://purl.obolibrary.org/obo/DOID_3044 food allergy A food allergy triggered by a vegetable food product. http://purl.obolibrary.org/obo/NCBITaxon_99737 Echinostomatidae http://purl.obolibrary.org/obo/NCBITaxon_404429 Echinostomatoidea http://purl.obolibrary.org/obo/DOID_0070243 primary coenzyme Q10 deficiency 6 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_0070335 celery allergy http://purl.obolibrary.org/obo/DOID_0070334 vegetable allergy A vegetable allergy triggered by celery (Apium graveolens). http://purl.obolibrary.org/obo/DOID_0070244 primary coenzyme Q10 deficiency 7 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. http://purl.obolibrary.org/obo/NCBITaxon_5693 Trypanosoma cruzi http://purl.obolibrary.org/obo/NCBITaxon_47570 Schizotrypanum http://purl.obolibrary.org/obo/DOID_0070337 epithelial recurrent erosion dystrophy http://purl.obolibrary.org/obo/DOID_0060440 epithelial and subepithelial dystrophy An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. http://purl.obolibrary.org/obo/DOID_0070245 primary coenzyme Q10 deficiency 8 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. http://purl.obolibrary.org/obo/NCBITaxon_6196 Opisthorchiidae http://purl.obolibrary.org/obo/NCBITaxon_6194 Opisthorchiata http://purl.obolibrary.org/obo/DOID_0080618 lymph node carcinoma http://purl.obolibrary.org/obo/DOID_305 carcinoma A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. http://purl.obolibrary.org/obo/DOID_0070246 X-linked Emery-Dreifuss muscular dystrophy 1 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. http://purl.obolibrary.org/obo/NCBITaxon_2082223 Panagrolaimomorpha http://purl.obolibrary.org/obo/NCBITaxon_6300 Tylenchina http://purl.obolibrary.org/obo/DOID_0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An adrenal cortex disease that is characterized by insufficient production of glucocorticoids. http://purl.obolibrary.org/obo/NCBITaxon_5738 Diplomonadida http://purl.obolibrary.org/obo/NCBITaxon_207245 Fornicata http://purl.obolibrary.org/obo/DOID_0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0080621 glucocorticoid deficiency 1 http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. http://purl.obolibrary.org/obo/NCBITaxon_29169 Ancylostoma http://purl.obolibrary.org/obo/NCBITaxon_53469 Ancylostomatinae http://purl.obolibrary.org/obo/DOID_0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. http://purl.obolibrary.org/obo/DOID_0080622 peroxisome biogenesis disorder 2B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3. http://purl.obolibrary.org/obo/NCBITaxon_68459 Giardiinae http://purl.obolibrary.org/obo/NCBITaxon_5739 Hexamitidae http://purl.obolibrary.org/obo/DOID_0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. http://purl.obolibrary.org/obo/DOID_0080623 Heimler syndrome 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. http://purl.obolibrary.org/obo/NCBITaxon_6251 Ascaris http://purl.obolibrary.org/obo/NCBITaxon_6250 Ascarididae http://purl.obolibrary.org/obo/DOID_0070251 X-linked Emery-Dreifuss muscular dystrophy 6 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. http://purl.obolibrary.org/obo/DOID_0080624 Heimler syndrome 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. http://purl.obolibrary.org/obo/NCBITaxon_329110 Coquillettidia http://purl.obolibrary.org/obo/NCBITaxon_254792 Mansoniini http://purl.obolibrary.org/obo/DOID_0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/DOID_0080625 severe congenital neutropenia 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. http://purl.obolibrary.org/obo/NCBITaxon_6191 Fasciola http://purl.obolibrary.org/obo/NCBITaxon_27843 Fasciolidae http://purl.obolibrary.org/obo/DOID_0070253 congenital disorder of glycosylation type IIa http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. http://purl.obolibrary.org/obo/DOID_0080626 corticosterone methyloxidase deficiency 1 http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. http://purl.obolibrary.org/obo/NCBITaxon_6180 Strigeidida http://purl.obolibrary.org/obo/NCBITaxon_6179 Digenea http://purl.obolibrary.org/obo/DOID_0070254 congenital disorder of glycosylation type IIb http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. http://purl.obolibrary.org/obo/NCBITaxon_6295 Filarioidea http://purl.obolibrary.org/obo/NCBITaxon_2072716 Spiruromorpha http://purl.obolibrary.org/obo/DOID_0080628 alopecia-mental retardation syndrome 1 http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_0070255 congenital disorder of glycosylation type IIc http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. http://purl.obolibrary.org/obo/HP_0002113 Pulmonary infiltrates http://purl.obolibrary.org/obo/HP_0031983 Abnormal pulmonary thoracic imaging finding http://purl.obolibrary.org/obo/DOID_0080629 alopecia-mental retardation syndrome 2 http://purl.obolibrary.org/obo/DOID_0080627 alopecia-mental retardation syndrome An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. http://purl.obolibrary.org/obo/DOID_0070256 congenital disorder of glycosylation type IId http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. http://purl.obolibrary.org/obo/DOID_13269 hereditary coproporphyria http://purl.obolibrary.org/obo/DOID_3133 acute porphyria http://purl.obolibrary.org/obo/DOID_0080631 Elsahy-Waters syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. http://purl.obolibrary.org/obo/DOID_0070257 congenital disorder of glycosylation type IIe http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. http://purl.obolibrary.org/obo/DOID_0070258 congenital disorder of glycosylation type IIf http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/DOID_0080632 Fazio-Londe disease http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_0070259 congenital disorder of glycosylation type IIg http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/NCBITaxon_2732397 Pararnavirae http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/DOID_0080633 developmental cardiac valvular defect http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_0070260 congenital disorder of glycosylation type IIh http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/NCBITaxon_216285 Trochoidea http://purl.obolibrary.org/obo/NCBITaxon_2315720 Trochida http://purl.obolibrary.org/obo/DOID_0080634 nanophthalmos http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. http://purl.obolibrary.org/obo/DOID_0070261 congenital disorder of glycosylation type IIi http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. http://purl.obolibrary.org/obo/NCBITaxon_27829 Strongyloidea http://purl.obolibrary.org/obo/NCBITaxon_2301119 Rhabditomorpha http://purl.obolibrary.org/obo/DOID_0080635 optic disc anomalies with retinal and/or macular dystrophy http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0070262 congenital disorder of glycosylation type IIj http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/NCBITaxon_29178 Foraminifera http://purl.obolibrary.org/obo/NCBITaxon_2662056 Retaria http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. http://purl.obolibrary.org/obo/DOID_0070263 congenital disorder of glycosylation type IIk http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. http://purl.obolibrary.org/obo/NCBITaxon_5719 Parabasalia http://purl.obolibrary.org/obo/NCBITaxon_2611341 Metamonada http://purl.obolibrary.org/obo/DOID_0080637 isolated microphthalmia http://purl.obolibrary.org/obo/DOID_10629 microphthalmia A microphthalmia that occurs by itself. http://purl.obolibrary.org/obo/DOID_0070264 congenital disorder of glycosylation type IIl http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. http://purl.obolibrary.org/obo/DOID_0070265 congenital disorder of glycosylation type IIm http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/NCBITaxon_10911 Coltivirus http://purl.obolibrary.org/obo/NCBITaxon_2946187 Spinareoviridae http://purl.obolibrary.org/obo/DOID_0080641 tongue carcinoma http://purl.obolibrary.org/obo/DOID_8649 tongue cancer A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. http://purl.obolibrary.org/obo/DOID_0070266 congenital disorder of glycosylation type IIn http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/NCBITaxon_2946630 Ensavirinae http://purl.obolibrary.org/obo/DOID_0111697 cleft palate, cardiac defects, and intellectual disability http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_0070267 congenital disorder of glycosylation type IIo http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. http://purl.obolibrary.org/obo/NCBITaxon_12091 Hepatovirus http://purl.obolibrary.org/obo/NCBITaxon_2946633 Heptrevirinae http://purl.obolibrary.org/obo/DOID_0111698 proprotein convertase 1/3 deficiency http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. http://purl.obolibrary.org/obo/DOID_0070268 congenital disorder of glycosylation type IIp http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. http://purl.obolibrary.org/obo/NCBITaxon_1809 Mycobacterium ulcerans http://purl.obolibrary.org/obo/NCBITaxon_2993898 Mycobacterium ulcerans group http://purl.obolibrary.org/obo/DOID_0070269 congenital disorder of glycosylation type IIq http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. http://purl.obolibrary.org/obo/DOID_0111699 Van den Ende-Gupta syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/NCBITaxon_6760 Scylla http://purl.obolibrary.org/obo/NCBITaxon_600346 Portuninae http://purl.obolibrary.org/obo/DOID_0070270 hereditary nonpolyposis colorectal cancer type 8 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM. http://purl.obolibrary.org/obo/DOID_0111700 ankyrin-B-related cardiac arrhythmia http://purl.obolibrary.org/obo/DOID_114 heart disease A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. http://purl.obolibrary.org/obo/NCBITaxon_2104 Mycoplasmoides pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_2995234 Mycoplasmoides http://purl.obolibrary.org/obo/DOID_0111701 long QT syndrome 4 http://purl.obolibrary.org/obo/DOID_2843 long QT syndrome A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. http://purl.obolibrary.org/obo/DOID_0070271 Lynch syndrome 1 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. http://purl.obolibrary.org/obo/UBERON_0016410 male breast http://purl.obolibrary.org/obo/UBERON_0000310 breast http://purl.obolibrary.org/obo/DOID_0111702 loose anagen hair syndrome http://purl.obolibrary.org/obo/DOID_987 alopecia An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age. http://purl.obolibrary.org/obo/DOID_0070272 hereditary nonpolyposis colorectal cancer type 5 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/NCBITaxon_426437 Rhipicephalinae http://purl.obolibrary.org/obo/DOID_0111703 familial hypertryptophanemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. http://purl.obolibrary.org/obo/DOID_0070273 hereditary nonpolyposis colorectal cancer type 6 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22. http://purl.obolibrary.org/obo/NCBITaxon_34630 Rhipicephalus http://purl.obolibrary.org/obo/NCBITaxon_426437 Rhipicephalinae http://purl.obolibrary.org/obo/DOID_0111704 chromosome 2q37 deletion syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. http://purl.obolibrary.org/obo/DOID_0070274 hereditary nonpolyposis colorectal cancer type 2 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2. http://purl.obolibrary.org/obo/SYMP_0020021 abnormal wound healing http://purl.obolibrary.org/obo/SYMP_0000092 skin lesion http://purl.obolibrary.org/obo/DOID_0111705 oculoectodermal syndrome http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. http://purl.obolibrary.org/obo/DOID_0070275 hereditary nonpolyposis colorectal cancer type 4 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22. http://purl.obolibrary.org/obo/SYMP_0020028 poor wound healing http://purl.obolibrary.org/obo/SYMP_0000092 skin lesion http://purl.obolibrary.org/obo/DOID_0111706 oblique facial clefting 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. http://purl.obolibrary.org/obo/DOID_0070276 hereditary nonpolyposis colorectal cancer type 7 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_0111707 Bothnian type palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. http://purl.obolibrary.org/obo/HP_0033338 Abnormal female meiosis http://purl.obolibrary.org/obo/HP_0031515 Abnormal meiosis http://purl.obolibrary.org/obo/HP_0034644 Abnormal liver metabolite concentration http://purl.obolibrary.org/obo/HP_0032243 Abnormal tissue metabolite concentration http://purl.obolibrary.org/obo/DOID_0070277 primary autosomal recessive microcephaly 15 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0111708 focal nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050428 nonepidermolytic palmoplantar keratoderma A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. http://purl.obolibrary.org/obo/DOID_0111709 focal nonepidermolytic palmoplantar keratoderma 1 http://purl.obolibrary.org/obo/DOID_0111708 focal nonepidermolytic palmoplantar keratoderma A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/NCBITaxon_34353 Dipodascaceae http://purl.obolibrary.org/obo/NCBITaxon_3243772 Dipodascales http://purl.obolibrary.org/obo/DOID_0070278 primary autosomal recessive microcephaly 7 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33. http://purl.obolibrary.org/obo/DOID_0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_572 mononeuritis of upper limb and mononeuritis multiplex http://purl.obolibrary.org/obo/DOID_1802 mononeuritis http://purl.obolibrary.org/obo/DOID_0070279 primary autosomal recessive microcephaly 14 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0111711 focal nonepidermolytic palmoplantar keratoderma 2 http://purl.obolibrary.org/obo/DOID_0111708 focal nonepidermolytic palmoplantar keratoderma A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/DOID_1802 mononeuritis http://purl.obolibrary.org/obo/DOID_0070280 primary autosomal recessive microcephaly 5 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_292 lacrimal system cancer http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_0111712 Kagami-Ogata syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_5467 conjunctival cancer http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/DOID_0070281 primary autosomal recessive microcephaly 19 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_0111713 Temple syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_6199 cornea cancer http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_0070282 primary autosomal recessive microcephaly 8 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. http://purl.obolibrary.org/obo/DOID_0111714 Mulchandani-Bhoj-Conlin syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_0070283 primary autosomal recessive microcephaly 13 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_0111715 Schaaf-Yang syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. http://purl.obolibrary.org/obo/DOID_746 adenomatoid tumor http://purl.obolibrary.org/obo/DOID_2645 benign mesothelioma http://purl.obolibrary.org/obo/DOID_0070284 primary autosomal recessive microcephaly 12 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0111824 Aarskog syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. http://purl.obolibrary.org/obo/DOID_5974 renal pelvis transitional cell carcinoma http://purl.obolibrary.org/obo/DOID_4919 renal pelvis carcinoma http://purl.obolibrary.org/obo/DOID_0070285 primary autosomal recessive microcephaly 1 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. http://purl.obolibrary.org/obo/DOID_0080831 subjective cognitive decline http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints. http://purl.obolibrary.org/obo/DOID_1201 trigeminal nerve neoplasm http://purl.obolibrary.org/obo/DOID_2815 cranial nerve malignant neoplasm http://purl.obolibrary.org/obo/DOID_0070286 primary autosomal recessive microcephaly 3 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. http://purl.obolibrary.org/obo/DOID_0080832 mild cognitive impairment http://purl.obolibrary.org/obo/DOID_1561 cognitive disorder A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living. http://purl.obolibrary.org/obo/DOID_12984 vagus nerve neoplasm http://purl.obolibrary.org/obo/DOID_2815 cranial nerve malignant neoplasm http://purl.obolibrary.org/obo/DOID_0070287 primary autosomal recessive microcephaly 11 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0080833 laryngomalacia http://purl.obolibrary.org/obo/DOID_786 laryngeal disease A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. http://purl.obolibrary.org/obo/DOID_14125 abducens nerve neoplasm http://purl.obolibrary.org/obo/DOID_2815 cranial nerve malignant neoplasm http://purl.obolibrary.org/obo/DOID_0070288 primary autosomal recessive microcephaly 17 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0080834 acquired laryngomalacia http://purl.obolibrary.org/obo/DOID_786 laryngeal disease A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. http://purl.obolibrary.org/obo/DOID_409 liver disease http://purl.obolibrary.org/obo/DOID_3118 hepatobiliary disease http://purl.obolibrary.org/obo/DOID_5940 malignant peripheral nerve sheath tumor http://purl.obolibrary.org/obo/DOID_3193 peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/DOID_0070289 primary autosomal recessive microcephaly 16 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0080835 TORCH syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. http://purl.obolibrary.org/obo/DOID_962 neurofibroma http://purl.obolibrary.org/obo/DOID_3193 peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/DOID_0070290 primary autosomal recessive microcephaly 6 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_0112153 hypomyelinating leukodystrophy 20 http://purl.obolibrary.org/obo/DOID_0060786 hypomyelinating leukodystrophy A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/DOID_0070291 primary autosomal recessive microcephaly 4 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_0112154 inflammatory bowel disease 30 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/DOID_13005 intra-abdominal lymph node mast cell malignancy http://purl.obolibrary.org/obo/DOID_10619 lymph node cancer http://purl.obolibrary.org/obo/DOID_0070292 primary autosomal recessive microcephaly 9 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0112155 inflammatory bowel disease 29 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1. http://purl.obolibrary.org/obo/DOID_369 olfactory neuroblastoma http://purl.obolibrary.org/obo/DOID_370 malignant olfactory nerve neoplasm http://purl.obolibrary.org/obo/DOID_0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0112156 X-linked dyserythropoietic anemia http://purl.obolibrary.org/obo/DOID_2355 anemia An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. http://purl.obolibrary.org/obo/DOID_4556 lung large cell carcinoma http://purl.obolibrary.org/obo/DOID_3908 lung non-small cell carcinoma http://purl.obolibrary.org/obo/DOID_0070294 primary autosomal recessive microcephaly 10 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0112157 X-linked atrophic macular degeneration http://purl.obolibrary.org/obo/DOID_4448 macular degeneration A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_1737 duodenal benign neoplasm http://purl.obolibrary.org/obo/DOID_7505 small intestine benign neoplasm http://purl.obolibrary.org/obo/DOID_0070295 primary autosomal dominant microcephaly 18 http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. http://purl.obolibrary.org/obo/DOID_0112158 De Sanctis-Cacchione syndrome http://purl.obolibrary.org/obo/DOID_0050427 xeroderma pigmentosum A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. http://purl.obolibrary.org/obo/DOID_3558 duodenal obstruction http://purl.obolibrary.org/obo/DOID_4072 duodenum disease http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly http://purl.obolibrary.org/obo/DOID_0070297 primary microcephaly A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. http://purl.obolibrary.org/obo/DOID_0112159 autosomal dominant nonsyndromic deafness 78 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. http://purl.obolibrary.org/obo/DOID_4455 hereditary renal cell carcinoma http://purl.obolibrary.org/obo/DOID_4450 renal cell carcinoma http://purl.obolibrary.org/obo/DOID_0070297 primary microcephaly http://purl.obolibrary.org/obo/DOID_10907 microcephaly A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. http://purl.obolibrary.org/obo/DOID_0112160 autosomal dominant nonsyndromic deafness 79 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/DOID_4692 endophthalmitis http://purl.obolibrary.org/obo/DOID_0070298 multiple epiphyseal dysplasia 2 http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0112161 Noonan syndrome 13 http://purl.obolibrary.org/obo/DOID_3490 Noonan syndrome A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. http://purl.obolibrary.org/obo/DOID_483 cavernous hemangioma http://purl.obolibrary.org/obo/DOID_484 vascular hemostatic disease http://purl.obolibrary.org/obo/DOID_0070299 multiple epiphyseal dysplasia 5 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. http://purl.obolibrary.org/obo/DOID_0112162 autosomal recessive nonsyndromic deafness 116 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_582 hemoglobinuria http://purl.obolibrary.org/obo/DOID_576 proteinuria http://purl.obolibrary.org/obo/DOID_0070300 multiple epiphyseal dysplasia 4 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_0112163 spermatogenic failure 45 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/DOID_5844 myocardial infarction http://purl.obolibrary.org/obo/DOID_0070301 multiple epiphyseal dysplasia 6 http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. http://purl.obolibrary.org/obo/DOID_0112164 spermatogenic failure 46 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. http://purl.obolibrary.org/obo/DOID_3951 acute myocarditis http://purl.obolibrary.org/obo/DOID_820 myocarditis http://purl.obolibrary.org/obo/DOID_0070302 multiple epiphyseal dysplasia 7 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0112165 autosomal dominant nonsyndromic deafness 74 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. http://purl.obolibrary.org/obo/DOID_8858 tonsil cancer http://purl.obolibrary.org/obo/DOID_0060073 lymphatic system cancer http://purl.obolibrary.org/obo/DOID_0070303 multiple epiphyseal dysplasia 1 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0112166 autosomal dominant nonsyndromic deafness 75 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. http://purl.obolibrary.org/obo/DOID_9401 epididymo-orchitis http://purl.obolibrary.org/obo/DOID_9402 epididymitis http://purl.obolibrary.org/obo/DOID_0070304 multiple epiphyseal dysplasia 3 http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0112167 autosomal dominant nonsyndromic deafness 76 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. http://purl.obolibrary.org/obo/HP_0004322 Short stature http://purl.obolibrary.org/obo/HP_0001510 Growth delay http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). http://purl.obolibrary.org/obo/DOID_0112168 autosomal dominant nonsyndromic deafness 77 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. http://purl.obolibrary.org/obo/HP_0045058 Abnormality of the testis size http://purl.obolibrary.org/obo/HP_0000035 Abnormal testis morphology http://purl.obolibrary.org/obo/DOID_0070306 post-cardiac arrest syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies. http://purl.obolibrary.org/obo/DOID_0112169 Noonan syndrome 11 http://purl.obolibrary.org/obo/DOID_3490 Noonan syndrome A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. http://purl.obolibrary.org/obo/HP_0100600 Penoscrotal transposition http://purl.obolibrary.org/obo/HP_0000045 Abnormal scrotum morphology http://purl.obolibrary.org/obo/DOID_0070307 craniolenticulosutural dysplasia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. http://purl.obolibrary.org/obo/DOID_0112170 Noonan syndrome 12 http://purl.obolibrary.org/obo/DOID_3490 Noonan syndrome A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. http://purl.obolibrary.org/obo/HP_0030263 Torsion of the penis http://purl.obolibrary.org/obo/HP_0000036 Abnormal penis morphology http://purl.obolibrary.org/obo/DOID_0112171 wrinkly skin syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0070308 rippling muscle disease 1 http://purl.obolibrary.org/obo/DOID_66 muscle tissue disease A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. http://purl.obolibrary.org/obo/DOID_0070309 absence epilepsy http://purl.obolibrary.org/obo/DOID_0050701 electroclinical syndrome An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. http://purl.obolibrary.org/obo/HP_0030264 Webbed penis http://purl.obolibrary.org/obo/HP_0000036 Abnormal penis morphology http://purl.obolibrary.org/obo/DOID_0112172 hereditary combined deficiency of vitamin K-dependent clotting factors http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. http://purl.obolibrary.org/obo/DOID_0070310 drug-induced hearing loss http://purl.obolibrary.org/obo/DOID_0050563 nonsyndromic deafness A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity. http://purl.obolibrary.org/obo/HP_0032076 Abnormal male urethral meatus morphology http://purl.obolibrary.org/obo/HP_0000036 Abnormal penis morphology http://purl.obolibrary.org/obo/DOID_0070311 oligoasthenoteratozoospermia http://purl.obolibrary.org/obo/DOID_12336 male infertility A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility. http://purl.obolibrary.org/obo/DOID_0112173 combined deficiency of vitamin K-dependent clotting factors 1 http://purl.obolibrary.org/obo/DOID_0112172 hereditary combined deficiency of vitamin K-dependent clotting factors A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. http://purl.obolibrary.org/obo/HP_0008734 Decreased testicular size http://purl.obolibrary.org/obo/HP_0010468 Aplasia/Hypoplasia of the testes http://purl.obolibrary.org/obo/DOID_0070314 obstructive nephropathy http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. http://purl.obolibrary.org/obo/DOID_0112174 combined deficiency of vitamin K-dependent clotting factors 2 http://purl.obolibrary.org/obo/DOID_0112172 hereditary combined deficiency of vitamin K-dependent clotting factors A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/HP_0040252 Abnormal size of the clitoris http://purl.obolibrary.org/obo/HP_0000056 Abnormal clitoris morphology http://purl.obolibrary.org/obo/DOID_0070315 hypoplastic right heart syndrome http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. http://purl.obolibrary.org/obo/DOID_0080836 growth hormone insensitivity syndrome with immune dysregulation 1 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. http://purl.obolibrary.org/obo/HP_0025633 Abnormal ureter morphology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter http://purl.obolibrary.org/obo/DOID_0070316 Miura type epiphyseal chondrodysplasia http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_0080837 growth hormone insensitivity syndrome with immune dysregulation 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter http://purl.obolibrary.org/obo/DOID_0080320 peripheral nervous system benign neoplasm http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm the is located_in the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_0080839 X-linked warfarin sensitivity http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/DOID_0080321 autonomic nervous system benign neoplasm http://purl.obolibrary.org/obo/DOID_0080320 peripheral nervous system benign neoplasm A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system. http://purl.obolibrary.org/obo/DOID_0080840 optic atrophy 12 http://purl.obolibrary.org/obo/DOID_5723 optic atrophy An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. http://purl.obolibrary.org/obo/HP_0033337 Abnormal gametogenesis http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/DOID_0080322 polycystic kidney disease http://purl.obolibrary.org/obo/DOID_2975 cystic kidney disease A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. http://purl.obolibrary.org/obo/DOID_0080842 intracranial meningioma http://purl.obolibrary.org/obo/DOID_3565 meningioma A meningioma that arises within the cranial cavity. http://purl.obolibrary.org/obo/DOID_0080843 supratentorial meningioma http://purl.obolibrary.org/obo/DOID_3565 meningioma A meningioma that affects the supratentorial brain. http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney http://purl.obolibrary.org/obo/DOID_0080323 pancreatic squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma A squamous cell carcinoma located in the pancreas. http://purl.obolibrary.org/obo/DOID_0080844 omodysplasia 1 http://purl.obolibrary.org/obo/DOID_0060288 omodysplasia An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. http://purl.obolibrary.org/obo/HP_0001548 Overgrowth http://purl.obolibrary.org/obo/HP_0000098 Tall stature http://purl.obolibrary.org/obo/DOID_0080324 tuberous sclerosis 1 http://purl.obolibrary.org/obo/DOID_13515 tuberous sclerosis A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0080845 omodysplasia 2 http://purl.obolibrary.org/obo/DOID_0060288 omodysplasia An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. http://purl.obolibrary.org/obo/HP_0100877 Renal diverticulum http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology http://purl.obolibrary.org/obo/DOID_0080325 tuberous sclerosis 2 http://purl.obolibrary.org/obo/DOID_13515 tuberous sclerosis A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0080846 latent autoimmune diabetes in adults http://purl.obolibrary.org/obo/DOID_9744 type 1 diabetes mellitus A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/DOID_0080326 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/DOID_11984 hypertrophic cardiomyopathy A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. http://purl.obolibrary.org/obo/DOID_0080848 long COVID http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. http://purl.obolibrary.org/obo/HP_0001510 Growth delay http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/DOID_60000 appendix disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is located_in the appendix. http://purl.obolibrary.org/obo/DOID_0112175 spermatogenic failure 47 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1. http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma http://purl.obolibrary.org/obo/DOID_0080638 B-cell acute lymphoblastic leukemia A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. http://purl.obolibrary.org/obo/DOID_0112176 spermatogenic failure 48 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1. http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/DOID_0080994 autoimmune epilepsy http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. http://purl.obolibrary.org/obo/DOID_0112177 Mayer-Rokitansky-Kuster-Hauser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. http://purl.obolibrary.org/obo/HP_0025354 Abnormal cellular phenotype http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/DOID_0070355 overactive bladder syndrome http://purl.obolibrary.org/obo/DOID_365 bladder disease A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. http://purl.obolibrary.org/obo/DOID_0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 http://purl.obolibrary.org/obo/DOID_0112177 Mayer-Rokitansky-Kuster-Hauser syndrome A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/DOID_0081267 graft-versus-host disease http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 http://purl.obolibrary.org/obo/DOID_0112177 Mayer-Rokitansky-Kuster-Hauser syndrome A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. http://purl.obolibrary.org/obo/HP_0031105 Abnormal uterus morphology http://purl.obolibrary.org/obo/HP_0000130 Abnormality of the uterus http://purl.obolibrary.org/obo/DOID_0081268 pulmonary venoocclusive disease 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_0112180 urocanase deficiency http://purl.obolibrary.org/obo/DOID_9265 histidine metabolism disease A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth http://purl.obolibrary.org/obo/DOID_0081269 pulmonary venoocclusive disease 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. http://purl.obolibrary.org/obo/DOID_0112181 Schinzel type phocomelia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe malformations of upper and lower limbs, severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/HP_0006483 Abnormal number of teeth http://purl.obolibrary.org/obo/HP_0000164 Abnormality of the dentition http://purl.obolibrary.org/obo/DOID_0081270 Smith-McCort dysplasia 1 http://purl.obolibrary.org/obo/DOID_0060247 Smith-McCort dysplasia A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0112182 mismatch repair cancer syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. http://purl.obolibrary.org/obo/HP_0011077 Abnormality of molar http://purl.obolibrary.org/obo/HP_0000164 Abnormality of the dentition http://purl.obolibrary.org/obo/DOID_0081271 Smith-McCort dysplasia 2 http://purl.obolibrary.org/obo/DOID_0060247 Smith-McCort dysplasia A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis http://purl.obolibrary.org/obo/DOID_0050328 congenital hypothyroidism A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head http://purl.obolibrary.org/obo/DOID_0081272 Sandestig-Stefanova syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0112184 thyroid dyshormonogenesis 5 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. http://purl.obolibrary.org/obo/HP_0040194 Increased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size http://purl.obolibrary.org/obo/DOID_0081273 Siddiqi syndrome http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0112185 thyroid dyshormonogenesis 1 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size http://purl.obolibrary.org/obo/DOID_0081274 peroxisome biogenesis disorder 14B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0112186 thyroid dyshormonogenesis 2A http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. http://purl.obolibrary.org/obo/HP_0000275 Narrow face http://purl.obolibrary.org/obo/HP_0000274 Small face http://purl.obolibrary.org/obo/DOID_0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. http://purl.obolibrary.org/obo/DOID_0081276 cerebellar atrophy, visual impairment, and psychomotor retardation http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0112187 thyroid dyshormonogenesis 3 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. http://purl.obolibrary.org/obo/HP_0000278 Retrognathia http://purl.obolibrary.org/obo/HP_0000277 Abnormal mandible morphology http://purl.obolibrary.org/obo/DOID_0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype http://purl.obolibrary.org/obo/DOID_3070 high grade glioma A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. http://purl.obolibrary.org/obo/DOID_0112188 thyroid dyshormonogenesis 4 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. http://purl.obolibrary.org/obo/HP_0011220 Prominent forehead http://purl.obolibrary.org/obo/HP_0000290 Abnormal forehead morphology http://purl.obolibrary.org/obo/DOID_0081278 infant-type hemispheric glioma http://purl.obolibrary.org/obo/DOID_3069 malignant astrocytoma A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. http://purl.obolibrary.org/obo/DOID_0112189 thyroid dyshormonogenesis 6 http://purl.obolibrary.org/obo/DOID_0112183 familial thyroid dyshormonogenesis A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. http://purl.obolibrary.org/obo/HP_0010668 Abnormal zygomatic bone morphology http://purl.obolibrary.org/obo/HP_0011821 Abnormal facial skeleton morphology http://purl.obolibrary.org/obo/DOID_0081279 diffuse astrocytoma, MYB- or MYBL1-altered http://purl.obolibrary.org/obo/DOID_4857 diffuse astrocytoma A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. http://purl.obolibrary.org/obo/DOID_0112190 distal arthrogryposis type 1C http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/HP_0011800 Midface retrusion http://purl.obolibrary.org/obo/HP_0000309 Abnormal midface morphology http://purl.obolibrary.org/obo/DOID_0081280 pituicytoma http://purl.obolibrary.org/obo/DOID_5048 posterior pituitary gland neoplasm A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. http://purl.obolibrary.org/obo/DOID_0112191 tetraamelia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system. http://purl.obolibrary.org/obo/HP_0008609 Abnormal middle ear morphology http://purl.obolibrary.org/obo/HP_0000370 Abnormality of the middle ear http://purl.obolibrary.org/obo/DOID_0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 http://purl.obolibrary.org/obo/DOID_0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). http://purl.obolibrary.org/obo/DOID_0112192 tetraamelia syndrome 1 http://purl.obolibrary.org/obo/DOID_0112191 tetraamelia syndrome A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. http://purl.obolibrary.org/obo/DOID_0112193 tetraamelia syndrome 2 http://purl.obolibrary.org/obo/DOID_0112191 tetraamelia syndrome A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. http://purl.obolibrary.org/obo/HP_0011486 Abnormal corneal thickness http://purl.obolibrary.org/obo/HP_0000481 Abnormal cornea morphology http://purl.obolibrary.org/obo/DOID_0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 http://purl.obolibrary.org/obo/DOID_0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. http://purl.obolibrary.org/obo/DOID_0112194 Filippi syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. http://purl.obolibrary.org/obo/HP_0012795 Abnormal optic disc morphology http://purl.obolibrary.org/obo/HP_0000587 Abnormal optic nerve morphology http://purl.obolibrary.org/obo/DOID_0081283 papillary glioneuronal tumor http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. http://purl.obolibrary.org/obo/DOID_0112195 spondyloperipheral dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. http://purl.obolibrary.org/obo/HP_0100033 Tics http://purl.obolibrary.org/obo/HP_0000722 Compulsive behaviors http://purl.obolibrary.org/obo/DOID_0081284 rosette-forming glioneuronal tumor http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. http://purl.obolibrary.org/obo/DOID_0112196 spondylometaepiphyseal dysplasia, short limb-hand type http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. http://purl.obolibrary.org/obo/HP_0006711 Aplasia/Hypoplasia involving bones of the thorax http://purl.obolibrary.org/obo/HP_0009122 Aplasia/hypoplasia affecting bones of the axial skeleton http://purl.obolibrary.org/obo/DOID_0081285 myxoid glioneuronal tumor http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. http://purl.obolibrary.org/obo/HP_0000768 Pectus carinatum http://purl.obolibrary.org/obo/HP_0000766 Abnormal sternum morphology http://purl.obolibrary.org/obo/DOID_0081286 embryonal tumor with multilayered rosettes http://purl.obolibrary.org/obo/DOID_0060103 central nervous system embryonal tumor A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. http://purl.obolibrary.org/obo/DOID_0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. http://purl.obolibrary.org/obo/HP_0031093 Abnormal breast morphology http://purl.obolibrary.org/obo/HP_0000769 Abnormality of the breast http://purl.obolibrary.org/obo/DOID_0081366 Paget disease of bone 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 http://purl.obolibrary.org/obo/DOID_0112197 spondyloepimetaphyseal dysplasia with joint laxity A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. http://purl.obolibrary.org/obo/HP_0008706 Distal urethral duplication http://purl.obolibrary.org/obo/HP_0000795 Abnormality of the urethra http://purl.obolibrary.org/obo/HP_0010481 Urethral valve http://purl.obolibrary.org/obo/HP_0000796 Urethral obstruction http://purl.obolibrary.org/obo/DOID_0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0080875 IDH-mutant anaplastic astrocytoma http://purl.obolibrary.org/obo/DOID_3078 anaplastic astrocytoma An anaplastic astrocytoma carrying IDH mutations. http://purl.obolibrary.org/obo/HP_0034378 Urethrovesical occlusion http://purl.obolibrary.org/obo/HP_0000796 Urethral obstruction http://purl.obolibrary.org/obo/DOID_0081367 Paget disease of bone 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. http://purl.obolibrary.org/obo/DOID_0080876 IDH-wildtype anaplastic astrocytoma http://purl.obolibrary.org/obo/DOID_3078 anaplastic astrocytoma An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. http://purl.obolibrary.org/obo/HP_0000777 Abnormal thymus morphology http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system http://purl.obolibrary.org/obo/DOID_0060912 craniosynostosis 7 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. http://purl.obolibrary.org/obo/HP_0200000 Dysharmonic skeletal maturation http://purl.obolibrary.org/obo/HP_0000927 Abnormality of skeletal maturation http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. http://purl.obolibrary.org/obo/DOID_0080877 astrocytoma, IDH-mutant, grade 4 http://purl.obolibrary.org/obo/DOID_0080875 IDH-mutant anaplastic astrocytoma An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. http://purl.obolibrary.org/obo/HP_0009116 Aplasia/Hypoplasia involving bones of the skull http://purl.obolibrary.org/obo/HP_0009122 Aplasia/hypoplasia affecting bones of the axial skeleton http://purl.obolibrary.org/obo/DOID_0060914 proteosome-associated autoinflammatory syndrome 2 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_0080878 IDH-wildtype glioblastoma http://purl.obolibrary.org/obo/DOID_3068 glioblastoma A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. http://purl.obolibrary.org/obo/HP_0031158 Widened atrophic scar http://purl.obolibrary.org/obo/HP_0001075 Atrophic scars http://purl.obolibrary.org/obo/DOID_0060915 proteosome-associated autoinflammatory syndrome 4 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_0080879 histone mutated tumor http://purl.obolibrary.org/obo/DOID_3070 high grade glioma A high grade glioma that has_material_basis_in mutations in the genes encoding histones. http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth http://purl.obolibrary.org/obo/DOID_0060916 proteasome-associated autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0080880 diffuse glioma, H3 G34 mutant http://purl.obolibrary.org/obo/DOID_0080879 histone mutated tumor A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. http://purl.obolibrary.org/obo/HP_0002344 Progressive neurologic deterioration http://purl.obolibrary.org/obo/HP_0001268 Mental deterioration http://purl.obolibrary.org/obo/DOID_0060917 facioscapulohumeral muscular dystrophy 3 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. http://purl.obolibrary.org/obo/DOID_0080881 pleomorphic xanthoastrocytoma BRAF mutant http://purl.obolibrary.org/obo/DOID_0080854 anaplastic pleomorphic xanthoastrocytoma An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. http://purl.obolibrary.org/obo/HP_0033725 Thin corpus callosum http://purl.obolibrary.org/obo/HP_0001273 Abnormal corpus callosum morphology http://purl.obolibrary.org/obo/DOID_0060918 facioscapulohumeral muscular dystrophy 4 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. http://purl.obolibrary.org/obo/DOID_0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma http://purl.obolibrary.org/obo/DOID_7154 anaplastic oligodendroglioma An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). http://purl.obolibrary.org/obo/HP_0001373 Joint dislocation http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology http://purl.obolibrary.org/obo/DOID_0060919 proteosome-associated autoinflammatory syndrome 5 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia. http://purl.obolibrary.org/obo/HP_0005217 Abdominal organ duplication http://purl.obolibrary.org/obo/HP_0001438 Abnormal abdomen morphology http://purl.obolibrary.org/obo/DOID_0070470 chromosome 1p36.33 duplication syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. http://purl.obolibrary.org/obo/DOID_0080884 vitamin D-dependent rickets type 2A http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. http://purl.obolibrary.org/obo/HP_0025276 Abnormality of skin adnexa physiology http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument http://purl.obolibrary.org/obo/DOID_0070473 Zaki syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. http://purl.obolibrary.org/obo/DOID_0080885 vitamin D-dependent rickets type 2B http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system http://purl.obolibrary.org/obo/DOID_0070474 childhood-onset neurodegeneration with brain atrophy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_0080886 vitamin D-dependent rickets type 1A http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. http://purl.obolibrary.org/obo/HP_0033796 Abnormal leukocyte physiology http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/DOID_0070485 mitochondrial complex IV deficiency nuclear type 23 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0080887 vitamin D-dependent rickets type 1B http://purl.obolibrary.org/obo/DOID_0080883 vitamin D-dependent rickets A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/HP_0011875 Abnormal platelet morphology http://purl.obolibrary.org/obo/HP_0001872 Abnormality of thrombocytes http://purl.obolibrary.org/obo/DOID_0070486 Parkinson's disease 25 http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. http://purl.obolibrary.org/obo/DOID_0080888 spinal ependymoma, MYCN-amplified http://purl.obolibrary.org/obo/DOID_5503 spinal cord ependymoma A spinal cord ependymoma that is characterized by MYCN amplification. http://purl.obolibrary.org/obo/HP_0020064 Abnormal total eosinophil count http://purl.obolibrary.org/obo/HP_0032309 Abnormal granulocyte count http://purl.obolibrary.org/obo/DOID_0070487 dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_0080889 posterior fossa ependymoma http://purl.obolibrary.org/obo/DOID_5074 high grade ependymoma A high grade ependymoma that is located within the posterior fossa. http://purl.obolibrary.org/obo/HP_0001762 Talipes equinovarus http://purl.obolibrary.org/obo/HP_0001883 Talipes http://purl.obolibrary.org/obo/DOID_0070488 atypical dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/DOID_0070487 dopamine transporter deficiency syndrome A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. http://purl.obolibrary.org/obo/DOID_0080890 supratentorial ependymoma http://purl.obolibrary.org/obo/DOID_5074 high grade ependymoma A high grade ependymoma that is located within the supratentorial brain. http://purl.obolibrary.org/obo/HP_0032309 Abnormal granulocyte count http://purl.obolibrary.org/obo/HP_0011893 Abnormal leukocyte count http://purl.obolibrary.org/obo/DOID_0070489 classic dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/DOID_0070487 dopamine transporter deficiency syndrome A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. http://purl.obolibrary.org/obo/DOID_0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma http://purl.obolibrary.org/obo/DOID_0080890 supratentorial ependymoma A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. http://purl.obolibrary.org/obo/DOID_0080892 RELA fusion-positive ependymoma http://purl.obolibrary.org/obo/DOID_0080890 supratentorial ependymoma A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/DOID_0070490 infantile parkinsonism-dystonia 2 http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. http://purl.obolibrary.org/obo/DOID_0080893 Bainbridge-Ropers syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/DOID_0070492 mitochondrial complex IV deficiency nuclear type 3 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. http://purl.obolibrary.org/obo/DOID_0080894 lipofibromatosis-like neural tumor http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. http://purl.obolibrary.org/obo/HP_0032243 Abnormal tissue metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/DOID_0070493 mitochondrial complex IV deficiency nuclear type 4 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0080895 rapidly involuting congenital hemangioma http://purl.obolibrary.org/obo/DOID_255 hemangioma A hemangioma that is characterized by complete regression. http://purl.obolibrary.org/obo/HP_0006530 Abnormal pulmonary interstitial morphology http://purl.obolibrary.org/obo/HP_0002088 Abnormal lung morphology http://purl.obolibrary.org/obo/DOID_0070494 mitochondrial complex IV deficiency nuclear type 7 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. http://purl.obolibrary.org/obo/DOID_0080896 pericytoma with t(7;12) http://purl.obolibrary.org/obo/DOID_3316 perivascular tumor A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. http://purl.obolibrary.org/obo/HP_0000750 Delayed speech and language development http://purl.obolibrary.org/obo/HP_0012758 Neurodevelopmental delay http://purl.obolibrary.org/obo/DOID_0070495 mitochondrial complex IV deficiency nuclear type 8 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/DOID_0080897 solitary fibrous tumor/hemangiopericytoma http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/DOID_0070496 mitochondrial complex IV deficiency nuclear type 10 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. http://purl.obolibrary.org/obo/DOID_0080898 cerebellofaciodental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/HP_0430000 Abnormal frontal bone morphology http://purl.obolibrary.org/obo/HP_0002683 Abnormal calvaria morphology http://purl.obolibrary.org/obo/DOID_0070497 mitochondrial complex IV deficiency nuclear type 11 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. http://purl.obolibrary.org/obo/HP_0032251 Abnormal immune system morphology http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system http://purl.obolibrary.org/obo/DOID_0070498 mitochondrial complex IV deficiency nuclear type 12 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_0070375 developmental and epileptic encephalopathy 64 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_0070364 bradyopsia 2 http://purl.obolibrary.org/obo/DOID_0050335 bradyopsia A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. http://purl.obolibrary.org/obo/HP_0005832 Dysharmonic delayed bone age http://purl.obolibrary.org/obo/HP_0200000 Dysharmonic skeletal maturation http://purl.obolibrary.org/obo/DOID_0070499 mitochondrial complex IV deficiency nuclear type 14 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_0070366 nevoid basal cell carcinoma syndrome 2 http://purl.obolibrary.org/obo/DOID_2512 nevoid basal cell carcinoma syndrome A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. http://purl.obolibrary.org/obo/HP_0040069 Abnormal lower limb bone morphology http://purl.obolibrary.org/obo/HP_0002814 Abnormality of the lower limb http://purl.obolibrary.org/obo/HP_0034669 Abnormal knee morphology http://purl.obolibrary.org/obo/HP_0002815 Abnormality of the knee http://purl.obolibrary.org/obo/HP_0002970 Genu varum http://purl.obolibrary.org/obo/HP_0034669 Abnormal knee morphology http://purl.obolibrary.org/obo/DOID_0070500 mitochondrial complex IV deficiency nuclear type 15 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/DOID_0070367 leukoencephalopathy with vanishing white matter 5 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis http://purl.obolibrary.org/obo/DOID_0070501 mitochondrial complex IV deficiency nuclear type 16 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/DOID_0070371 leukoencephalopathy with vanishing white matter 4 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23. http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration http://purl.obolibrary.org/obo/DOID_0070502 mitochondrial complex IV deficiency nuclear type 17 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. http://purl.obolibrary.org/obo/DOID_0070372 leukoencephalopathy with vanishing white matter 3 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0070373 leukoencephalopathy with vanishing white matter 2 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. http://purl.obolibrary.org/obo/HP_0007182 Peripheral hypomyelination http://purl.obolibrary.org/obo/HP_0003130 Abnormal peripheral myelination http://purl.obolibrary.org/obo/DOID_0070503 mitochondrial complex IV deficiency nuclear type 18 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0070376 developmental and epileptic encephalopathy 31B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/HP_0002503 Spinocerebellar tract degeneration http://purl.obolibrary.org/obo/HP_0003133 Abnormal spinocerebellar tract morphology http://purl.obolibrary.org/obo/DOID_0070504 mitochondrial complex IV deficiency nuclear type 19 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. http://purl.obolibrary.org/obo/DOID_0070396 progressive leukoencephalopathy with ovarian failure http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. http://purl.obolibrary.org/obo/HP_0030059 Mitochondrial depletion http://purl.obolibrary.org/obo/HP_0003287 Abnormality of mitochondrial metabolism http://purl.obolibrary.org/obo/HP_0000926 Platyspondyly http://purl.obolibrary.org/obo/HP_0003312 Abnormal vertebral body morphology http://purl.obolibrary.org/obo/DOID_0070505 mitochondrial complex IV deficiency nuclear type 20 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. http://purl.obolibrary.org/obo/DOID_0070424 combined oxidative phosphorylation deficiency 44 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. http://purl.obolibrary.org/obo/HP_0004566 Pear-shaped vertebrae http://purl.obolibrary.org/obo/HP_0003312 Abnormal vertebral body morphology http://purl.obolibrary.org/obo/DOID_0070506 mitochondrial complex IV deficiency nuclear type 21 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. http://purl.obolibrary.org/obo/DOID_0070425 combined oxidative phosphorylation deficiency 52 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. http://purl.obolibrary.org/obo/HP_0002812 Coxa vara http://purl.obolibrary.org/obo/HP_0003367 Abnormal femoral neck morphology http://purl.obolibrary.org/obo/HP_0003521 Disproportionate short-trunk short stature http://purl.obolibrary.org/obo/HP_0009121 Abnormal axial skeleton morphology http://purl.obolibrary.org/obo/HP_0008873 Disproportionate short-limb short stature http://purl.obolibrary.org/obo/HP_0003498 Disproportionate short stature http://purl.obolibrary.org/obo/DOID_0070507 mitochondrial complex IV deficiency nuclear type 22 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. http://purl.obolibrary.org/obo/DOID_0070426 combined oxidative phosphorylation deficiency 53 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. http://purl.obolibrary.org/obo/HP_0003510 Severe short stature http://purl.obolibrary.org/obo/HP_0003508 Proportionate short stature http://purl.obolibrary.org/obo/DOID_0070508 metabolic dysfunction and alcohol associated liver disease http://purl.obolibrary.org/obo/DOID_9452 steatotic liver disease A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. http://purl.obolibrary.org/obo/HP_0100699 Scarring http://purl.obolibrary.org/obo/HP_0003549 Abnormality of connective tissue http://purl.obolibrary.org/obo/HP_0001252 Hypotonia http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone http://purl.obolibrary.org/obo/DOID_0070427 combined oxidative phosphorylation deficiency 54 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_0081383 ataxia-oculomotor apraxia 4 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. http://purl.obolibrary.org/obo/HP_0001824 Weight loss http://purl.obolibrary.org/obo/HP_0004325 Decreased body weight http://purl.obolibrary.org/obo/DOID_0070428 combined oxidative phosphorylation deficiency 55 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0081384 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. http://purl.obolibrary.org/obo/HP_0032368 Acidemia http://purl.obolibrary.org/obo/HP_0004360 Abnormality of acid-base homeostasis http://purl.obolibrary.org/obo/DOID_0070429 combined oxidative phosphorylation deficiency 56 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0070430 combined oxidative phosphorylation deficiency 57 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. http://purl.obolibrary.org/obo/DOID_0081385 ataxia-telangiectasia-like disorder 2 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. http://purl.obolibrary.org/obo/HP_0033405 Abnormal circulating organic amino compound concentration http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. http://purl.obolibrary.org/obo/DOID_0081386 TANGO2-related metabolic encephalopathy and arrythmias http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. http://purl.obolibrary.org/obo/HP_0000774 Narrow chest http://purl.obolibrary.org/obo/HP_0005257 Thoracic hypoplasia http://purl.obolibrary.org/obo/DOID_0070432 hyperphosphatasia with impaired intellectual development syndrome 5 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. http://purl.obolibrary.org/obo/HP_0010701 Abnormal circulating immunoglobulin concentration http://purl.obolibrary.org/obo/HP_0005368 Abnormality of humoral immunity http://purl.obolibrary.org/obo/HP_0001022 Albinism http://purl.obolibrary.org/obo/HP_0007513 Generalized hypopigmentation http://purl.obolibrary.org/obo/DOID_0070433 hyperphosphatasia with impaired intellectual development syndrome 1 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia http://purl.obolibrary.org/obo/DOID_9255 frontotemporal dementia A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. http://purl.obolibrary.org/obo/HP_0011070 Abnormal molar morphology http://purl.obolibrary.org/obo/HP_0011077 Abnormality of molar http://purl.obolibrary.org/obo/DOID_0070434 hyperphosphatasia with impaired intellectual development syndrome 2 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_0081389 logopenic progressive aphasia http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. http://purl.obolibrary.org/obo/HP_0000972 Palmoplantar hyperkeratosis http://purl.obolibrary.org/obo/HP_0010765 Palmar hyperkeratosis http://purl.obolibrary.org/obo/DOID_0070435 hyperphosphatasia with impaired intellectual development syndrome 3 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0081390 progressive non-fluent aphasia http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. http://purl.obolibrary.org/obo/HP_0031038 Spermatogenesis maturation arrest http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis http://purl.obolibrary.org/obo/DOID_0081391 semantic dementia http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. http://purl.obolibrary.org/obo/DOID_0070436 hyperphosphatasia with impaired intellectual development syndrome 4 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. http://purl.obolibrary.org/obo/HP_0000347 Micrognathia http://purl.obolibrary.org/obo/HP_0009118 Aplasia/Hypoplasia of the mandible http://purl.obolibrary.org/obo/DOID_0081392 corticobasal degeneration syndrome http://purl.obolibrary.org/obo/DOID_9255 frontotemporal dementia A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. http://purl.obolibrary.org/obo/DOID_0070437 hyperphosphatasia with impaired intellectual development syndrome 6 http://purl.obolibrary.org/obo/DOID_0070431 hyperphosphatasia with impaired intellectual development syndrome A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. http://purl.obolibrary.org/obo/HP_0009122 Aplasia/hypoplasia affecting bones of the axial skeleton http://purl.obolibrary.org/obo/HP_0009115 Aplasia/hypoplasia involving the skeleton http://purl.obolibrary.org/obo/DOID_0081393 organophosphate-induced delayed polyneuropathy http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy http://purl.obolibrary.org/obo/DOID_4448 macular degeneration A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. http://purl.obolibrary.org/obo/HP_0002983 Micromelia http://purl.obolibrary.org/obo/HP_0009826 Limb undergrowth http://purl.obolibrary.org/obo/DOID_0081394 Caroli syndrome http://purl.obolibrary.org/obo/DOID_866 vein disease A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. http://purl.obolibrary.org/obo/DOID_0081407 childhood round cell sarcoma with EWSR1-non-ETS fusion http://purl.obolibrary.org/obo/DOID_0081406 round cell sarcoma with EWSR1-non-ETS fusion A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. http://purl.obolibrary.org/obo/DOID_0070439 North Carolina macular dystrophy http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. http://purl.obolibrary.org/obo/HP_0003027 Mesomelia http://purl.obolibrary.org/obo/HP_0009826 Limb undergrowth http://purl.obolibrary.org/obo/DOID_0081415 TFE3-rearranged renal cell carcinoma http://purl.obolibrary.org/obo/DOID_0081413 renal cell carcinoma with MiT translocations A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. http://purl.obolibrary.org/obo/DOID_0070440 retinal macular dystrophy 3 http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1. http://purl.obolibrary.org/obo/HP_0003187 Breast hypoplasia http://purl.obolibrary.org/obo/HP_0010311 Aplasia/Hypoplasia of the breasts http://purl.obolibrary.org/obo/DOID_0081423 familial focal epilepsy with variable foci 3 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0070441 retinal macular dystrophy 4 http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21. http://purl.obolibrary.org/obo/HP_0003307 Hyperlordosis http://purl.obolibrary.org/obo/HP_0010674 Abnormal curvature of the vertebral column http://purl.obolibrary.org/obo/DOID_0070594 spermatogenic failure 95 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2. http://purl.obolibrary.org/obo/DOID_0070442 paroxysmal nonkinesigenic dyskinesia 3 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/HP_0003231 Hypertyrosinemia http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration http://purl.obolibrary.org/obo/DOID_0060995 autosomal dominant isolated macrothrombocytopenia 2 http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. http://purl.obolibrary.org/obo/HP_0005368 Abnormality of humoral immunity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/DOID_0061005 congenital amegakaryocytic thrombocytopenia 1 http://purl.obolibrary.org/obo/DOID_0090118 congenital amegakaryocytic thrombocytopenia A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0070444 neurodevelopmental disorder with language delay and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/DOID_0061006 advanced sleep phase syndrome 4 http://purl.obolibrary.org/obo/DOID_0050628 advanced sleep phase syndrome An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0070445 early-onset dystonia and/or spastic paraplegia http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/DOID_0061007 sideroblastic anemia 5 http://purl.obolibrary.org/obo/DOID_8955 sideroblastic anemia A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_0061008 craniosynostosis 6 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24. http://purl.obolibrary.org/obo/DOID_0070446 mitochondrial DNA depletion syndrome 16 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/HP_0030976 Abnormal factor VIII activity http://purl.obolibrary.org/obo/HP_0010989 Abnormality of the intrinsic pathway http://purl.obolibrary.org/obo/DOID_0061009 craniosynostosis 2 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0070447 mitochondrial DNA depletion syndrome 16B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. http://purl.obolibrary.org/obo/HP_0040145 Dicarboxylic acidemia http://purl.obolibrary.org/obo/HP_0032368 Acidemia http://purl.obolibrary.org/obo/DOID_0061010 craniosynostosis 1 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. http://purl.obolibrary.org/obo/DOID_0070448 mitochondrial DNA depletion syndrome 17 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. http://purl.obolibrary.org/obo/HP_0020347 Abnormal circulating monosaccharide concentration http://purl.obolibrary.org/obo/HP_0011013 Abnormal circulating carbohydrate concentration http://purl.obolibrary.org/obo/DOID_0061011 craniosynostosis 3 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0070449 mitochondrial DNA depletion syndrome 18 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/DOID_0061012 craniosynostosis 4 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070450 mitochondrial DNA depletion syndrome 19 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0070451 mitochondrial DNA depletion syndrome 20 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/DOID_0061013 ovarian dysgenesis 9 http://purl.obolibrary.org/obo/DOID_14450 46 XX gonadal dysgenesis A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11. http://purl.obolibrary.org/obo/DOID_0081352 congenital myopathy 20 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. http://purl.obolibrary.org/obo/DOID_0081353 congenital myopathy 21 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. http://purl.obolibrary.org/obo/HP_0030956 Abnormality of cardiovascular system electrophysiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/DOID_0061014 ovarian dysgenesis 10 http://purl.obolibrary.org/obo/DOID_14450 46 XX gonadal dysgenesis A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. http://purl.obolibrary.org/obo/DOID_0081354 congenital myopathy 22A http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. http://purl.obolibrary.org/obo/HP_0001789 Hydrops fetalis http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/DOID_0081355 congenital myopathy 22B http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0070620 ring chromosome syndrome http://purl.obolibrary.org/obo/DOID_0080014 chromosomal disease A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable. http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology http://purl.obolibrary.org/obo/HP_0001000 Abnormal skin pigmentation http://purl.obolibrary.org/obo/HP_0011121 Abnormal skin morphology http://purl.obolibrary.org/obo/HP_0032162 Unusual skin infection http://purl.obolibrary.org/obo/HP_0032158 Unusual infection by anatomical site http://purl.obolibrary.org/obo/DOID_0081359 epidermolytic hyperkeratosis 2 http://purl.obolibrary.org/obo/DOID_4603 epidermolytic hyperkeratosis An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0070621 ring chromosome 14 syndrome http://purl.obolibrary.org/obo/DOID_0070620 ring chromosome syndrome A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure. http://purl.obolibrary.org/obo/HP_0040211 Abnormal skin morphology of the palm http://purl.obolibrary.org/obo/HP_0100871 Abnormal palm morphology http://purl.obolibrary.org/obo/DOID_0081370 LADD syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. http://purl.obolibrary.org/obo/DOID_0070622 ring chromosome 20 syndrome http://purl.obolibrary.org/obo/DOID_0070620 ring chromosome syndrome A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure. http://purl.obolibrary.org/obo/HP_0008070 Sparse hair http://purl.obolibrary.org/obo/HP_0011362 Abnormal hair quantity http://purl.obolibrary.org/obo/DOID_0081371 lacrimoauriculodentodigital syndrome 2 http://purl.obolibrary.org/obo/DOID_0081370 LADD syndrome A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. http://purl.obolibrary.org/obo/DOID_0070623 B-lymphoblastic leukemia with MEF2D rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement. http://purl.obolibrary.org/obo/HP_0000962 Hyperkeratosis http://purl.obolibrary.org/obo/HP_0011368 Epidermal thickening http://purl.obolibrary.org/obo/DOID_0070624 B-lymphoblastic leukemia with MYC rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement. http://purl.obolibrary.org/obo/DOID_0081372 lacrimoauriculodentodigital syndrome 3 http://purl.obolibrary.org/obo/DOID_0081370 LADD syndrome A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. http://purl.obolibrary.org/obo/HP_0007431 Congenital ichthyosiform erythroderma http://purl.obolibrary.org/obo/HP_0011368 Epidermal thickening http://purl.obolibrary.org/obo/DOID_0060946 Ullrich congenital muscular dystrophy 1A http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/DOID_0081450 hyperimmunoglobulinemia D periodic fever syndrome http://purl.obolibrary.org/obo/DOID_2959 hyperimmunoglobulin syndrome A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. http://purl.obolibrary.org/obo/HP_4000074 Involuntary vocalization http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/DOID_0081451 PFAPA syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. http://purl.obolibrary.org/obo/DOID_0070625 B-lymphoblastic leukemia with NUTM1 rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement. http://purl.obolibrary.org/obo/DOID_0070626 B-lymphoblastic leukemia with PAX5alt http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions. http://purl.obolibrary.org/obo/HP_5200241 Recurrent maladaptive behavior http://purl.obolibrary.org/obo/HP_0011446 Abnormality of mental function http://purl.obolibrary.org/obo/DOID_0060942 Ullrich congenital muscular dystrophy 1B http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0070627 B-lymphoblastic leukemia with TCF3-HLF fusion http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement. http://purl.obolibrary.org/obo/HP_0025766 Abnormal affect http://purl.obolibrary.org/obo/HP_0011446 Abnormality of mental function http://purl.obolibrary.org/obo/DOID_0060943 Ullrich congenital muscular dystrophy 1C http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0060947 autosomal recessive intellectual developmental disorder 82 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. http://purl.obolibrary.org/obo/DOID_0081449 cone-rod dystrophy 24 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_707 B-cell lymphoma A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters. http://purl.obolibrary.org/obo/DOID_0070544 congenital glutamine deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/DOID_0070550 KRT1-related nonepidermolytic palmoplantar keratoderma http://purl.obolibrary.org/obo/DOID_0050428 nonepidermolytic palmoplantar keratoderma A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0070628 B-lymphoblastic leukemia with ZNF384 rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement. http://purl.obolibrary.org/obo/DOID_0070629 acute myeloid leukemia with CBFA2T3-GLIS2 fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene. http://purl.obolibrary.org/obo/HP_0025792 Abnormal cognitive process http://purl.obolibrary.org/obo/HP_0011446 Abnormality of mental function http://purl.obolibrary.org/obo/DOID_0070547 primary pigmented nodular adrenocortical disease 2 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2. http://purl.obolibrary.org/obo/DOID_0070630 acute myeloid leukemia with KAT6A-CREBBP fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion. http://purl.obolibrary.org/obo/HP_0003202 Skeletal muscle atrophy http://purl.obolibrary.org/obo/HP_0011805 Abnormal skeletal muscle morphology http://purl.obolibrary.org/obo/DOID_0060971 interstitial lung disease 2 http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0070631 acute myeloid leukemia with FUS-ERG fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with FUS-ERG gene fusion. http://purl.obolibrary.org/obo/HP_0030791 Abnormal jaw morphology http://purl.obolibrary.org/obo/HP_0011821 Abnormal facial skeleton morphology http://purl.obolibrary.org/obo/DOID_0070584 spermatogenic failure 85 http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia A spermatogenic failure characterized by globozoospermia and reduced progressive motility that has_material_basis_in homozygous mutation in the SPACA1 gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_0070632 acute myeloid leukemia with MNX1-ETV6 fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with MXN1-ETV6 gene fusion. http://purl.obolibrary.org/obo/HP_0009115 Aplasia/hypoplasia involving the skeleton http://purl.obolibrary.org/obo/HP_0011842 Abnormal skeletal morphology http://purl.obolibrary.org/obo/DOID_0070605 autosomal dominant nonsyndromic deafness 85 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0070616 glycine encephalopathy 1 http://purl.obolibrary.org/obo/DOID_9268 glycine encephalopathy A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_0070633 acute myeloid leukemia with NPM1-MLF1 fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with NPM1-MLF1 gene fusion. http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification http://purl.obolibrary.org/obo/DOID_0051002 congenital dyserythropoietic anemia type IVb http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. http://purl.obolibrary.org/obo/DOID_0061146 Pan-Chung-Bellen syndrome http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11. http://purl.obolibrary.org/obo/DOID_0061140 ragopathy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates. http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology http://purl.obolibrary.org/obo/CHEBI_30785 methylmercury(.) http://purl.obolibrary.org/obo/CHEBI_64909 poison A poison that is methylmercury. http://purl.obolibrary.org/obo/SYMP_0000539 jaundice http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by a yellowish pigmentation of the skin, tissues, and certain body fluids is caused by the deposition of bile pigments that follows interference with normal production and discharge of bile (as in certain liver diseases) or excessive breakdown of red blood cells (as after internal hemorrhage or in various hemolytic states). http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology http://purl.obolibrary.org/obo/ExO_0000014 climate change http://purl.obolibrary.org/obo/ExO_0000007 ecological perturbation An ecological pertubation that is any significant change in measures of climate (such as temperature, precipitation, or wind) lasting for an extended period (decades or longer). It may result from natural factors such as changes in the sun's intensity, natural processes within the climate system such as changes in ocean circulation, or human activities. http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology http://purl.obolibrary.org/obo/CHEBI_35446 chlorobiphenyl http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor A chloroarene that consists of a biphenyl skeleton substituted by one or more chloro groups. http://purl.obolibrary.org/obo/NCBITaxon_6954 Dermatophagoides farinae http://purl.obolibrary.org/obo/CHEBI_50904 allergen An allergen that is an American house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home. http://purl.obolibrary.org/obo/SYMP_0000246 increased appetite http://purl.obolibrary.org/obo/SYMP_0000244 alteration of appetite An alteration of appetite that is characterized by an desire to eat, an excess desire for food. http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology http://purl.obolibrary.org/obo/NCBITaxon_6956 Dermatophagoides pteronyssinus http://purl.obolibrary.org/obo/CHEBI_50904 allergen An allergen that is an European house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home. http://purl.obolibrary.org/obo/SYMP_0000729 pulmonary consolidation http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a region of normally compressible lung tissue that has filled with liquid instead of air. http://purl.obolibrary.org/obo/SYMP_0000600 apnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by transient cessation of respiration whether normal (as in hibernating animals) or abnormal (as that caused by certain drugs). http://purl.obolibrary.org/obo/HP_0011282 Abnormal hindbrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormal brain morphology http://purl.obolibrary.org/obo/DOID_0060886 osteopathia striata with cranial sclerosis http://purl.obolibrary.org/obo/DOID_4254 osteosclerosis An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. http://purl.obolibrary.org/obo/SYMP_0000748 facial edema http://purl.obolibrary.org/obo/SYMP_0000538 edema An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the face. http://purl.obolibrary.org/obo/DOID_0060887 ossification of the posterior longitudinal ligament of spine http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. http://purl.obolibrary.org/obo/HP_0033259 Non-motor seizure http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology http://purl.obolibrary.org/obo/SYMP_0000421 hematochezia http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom hematochezia is a feces and droppings symptom characterized by the passage of fresh blood per anus, usually in or with stools. http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology http://purl.obolibrary.org/obo/DOID_0060888 transient myeloproliferative syndrome http://purl.obolibrary.org/obo/DOID_2226 myeloproliferative neoplasm A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. http://purl.obolibrary.org/obo/SYMP_0000844 face hyperemia http://purl.obolibrary.org/obo/SYMP_0000387 head symptom Hyperemia of the face is a head symptom consisting of an excess of blood in the tissues of the face as from an increased flow of blood due to vasodilation. http://purl.obolibrary.org/obo/HP_0012641 Decreased intracranial pressure http://purl.obolibrary.org/obo/HP_0012640 Abnormality of intracranial pressure http://purl.obolibrary.org/obo/DOID_0060889 prune belly syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. http://purl.obolibrary.org/obo/NCIT_C14329 Microorganism http://purl.obolibrary.org/obo/DISDRIV_0000003 biological driver A biological agent that is a microorganism, including bacteria, viruses, or fungi. A microscopic organism. The term microorganism may refer to a prokaryote or eukaryote, and may be a unicellular or multicellular organism. All taxonomic kingdoms contain microorganisms. http://purl.obolibrary.org/obo/HP_0030895 Abnormal gastrointestinal motility http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/DOID_0060890 ectopic Cushing syndrome http://purl.obolibrary.org/obo/DOID_446 primary hyperaldosteronism A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. http://purl.obolibrary.org/obo/NCIT_C598 Iron http://purl.obolibrary.org/obo/CHEBI_33284 nutrient An important mineral the body needs to make hemoglobin, a substance in the blood that carries oxygen from the lungs to tissues throughout the body. Iron is also an important part of many other proteins and enzymes needed by the body for normal growth and development. It is found in red meat, fish, poultry, lentils, beans, and foods with iron added, such as cereal. http://purl.obolibrary.org/obo/DOID_0060891 Parkinson's disease 19A http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. http://purl.obolibrary.org/obo/HP_0012435 Ventral shortening of foreskin http://purl.obolibrary.org/obo/HP_0100587 Abnormal preputium morphology http://purl.obolibrary.org/obo/NCIT_C603 Isotretinoin http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A chemical driver that is accutane (retinoic acid), a medication primarily used to treat severe acne. http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease http://purl.obolibrary.org/obo/DOID_14330 Parkinson's disease A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. http://purl.obolibrary.org/obo/HP_0100765 Abnormality of the tonsils http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system http://purl.obolibrary.org/obo/NCIT_C943 Vitamin K http://purl.obolibrary.org/obo/CHEBI_33229 vitamin (role) The term "vitamin K" refers to a group of chemically similar fat-soluble compounds called naphthoquinones: vitamin K1 (phytonadione) is found in plants and is the primary source of vitamin K for humans through dietary consumption, vitamin K2 compounds (menaquinones) are made by bacteria in the human gut, and vitamin K3 (menadione) is a water-soluble preparation available for adults only. Vitamin K is necessary for the liver to produce the coagulation factors II, VII, IX, and X, as well as the clotting factors protein C, protein S, and protein Z; vitamin K deficiency can result in deficiencies of these coagulation factors and excess bleeding. An injection of vitamin K is routinely given to newborn infants to prevent vitamin K deficiency bleeding, also known as hemorrhagic disease of the newborn. Vitamin K deficiency is rare in adults but may result from chronic malnutrition or an inability to absorb dietary vitamins. http://purl.obolibrary.org/obo/DOID_0060893 juvenile-onset Parkinson's disease http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. http://purl.obolibrary.org/obo/NCBITaxon_2842242 Ribozyviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/DOID_0080311 Billuart-type X-linked syndromic intellectual developmental disorder http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12. http://purl.obolibrary.org/obo/DOID_0080312 neurodevelopmental disorder with midbrain and hindbrain malformations http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0080313 cleft palate-lateral synechia syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by fusion of maxilla and mandible. http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease http://purl.obolibrary.org/obo/DOID_14330 Parkinson's disease A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. http://purl.obolibrary.org/obo/DOID_0060895 Parkinson's disease 4 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. http://purl.obolibrary.org/obo/NCBITaxon_2731341 Duplodnaviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/DOID_0080314 cone-rod dystrophy 14 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. http://purl.obolibrary.org/obo/DOID_0060896 Parkinson's disease 23 http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. http://purl.obolibrary.org/obo/NCBITaxon_2731342 Floreoviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. http://purl.obolibrary.org/obo/DOID_0060897 Parkinson's disease 17 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. http://purl.obolibrary.org/obo/DOID_0060898 Parkinson's disease 20 http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/NCBITaxon_2732004 Varidnaviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/DOID_0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0060900 Parkinson's disease 14 http://purl.obolibrary.org/obo/DOID_0060892 late onset Parkinson's disease A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. http://purl.obolibrary.org/obo/NCBITaxon_2955291 Alphainfluenzavirus influenzae http://purl.obolibrary.org/obo/NCBITaxon_197911 Alphainfluenzavirus http://purl.obolibrary.org/obo/DOID_0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. http://purl.obolibrary.org/obo/NCBITaxon_2955935 Gammainfluenzavirus influenzae http://purl.obolibrary.org/obo/NCBITaxon_197913 Gammainfluenzavirus http://purl.obolibrary.org/obo/DOID_0080174 bladder exstrophy http://purl.obolibrary.org/obo/DOID_0080173 bladder exstrophy-epispadias-cloacal exstrophy complex A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. http://purl.obolibrary.org/obo/NCBITaxon_6032 Apansporoblastina http://purl.obolibrary.org/obo/NCBITaxon_6029 Microsporidia http://purl.obolibrary.org/obo/DOID_0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. http://purl.obolibrary.org/obo/DOID_0080175 cloacal exstrophy http://purl.obolibrary.org/obo/DOID_0080173 bladder exstrophy-epispadias-cloacal exstrophy complex A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. http://purl.obolibrary.org/obo/NCBITaxon_44534 Cellia http://purl.obolibrary.org/obo/NCBITaxon_7164 Anopheles http://purl.obolibrary.org/obo/DOID_0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). http://purl.obolibrary.org/obo/DOID_0080176 meningococcal meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. http://purl.obolibrary.org/obo/UBERON_0002133 atrioventricular valve http://purl.obolibrary.org/obo/UBERON_0000946 cardiac valve http://purl.obolibrary.org/obo/DOID_0080583 Wolfram syndrome, mitochondrial form http://purl.obolibrary.org/obo/DOID_10632 Wolfram syndrome A Wolfram syndrome that has_material_basis_in mutation in mtDNA. http://purl.obolibrary.org/obo/DOID_0080177 hepatic veno-occlusive disease http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve http://purl.obolibrary.org/obo/UBERON_0000946 cardiac valve http://purl.obolibrary.org/obo/DOID_0080584 autosomal dominant Wolfram syndrome http://purl.obolibrary.org/obo/DOID_10632 Wolfram syndrome A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0080178 mucositis http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. http://purl.obolibrary.org/obo/UBERON_0000992 ovary http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ http://purl.obolibrary.org/obo/DOID_0080585 Van Maldergem syndrome 1 http://purl.obolibrary.org/obo/DOID_0060238 Van Maldergem syndrome A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0080179 haemophilus meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. http://purl.obolibrary.org/obo/UBERON_0001702 eyelash http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair http://purl.obolibrary.org/obo/DOID_0080586 Van Maldergem syndrome 2 http://purl.obolibrary.org/obo/DOID_0060238 Van Maldergem syndrome A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. http://purl.obolibrary.org/obo/DOID_0090001 Fraser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. http://purl.obolibrary.org/obo/UBERON_0016446 hair of head http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair http://purl.obolibrary.org/obo/DOID_0080587 congenital myasthenic syndrome 22 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. http://purl.obolibrary.org/obo/DOID_0090002 Tietz syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. http://purl.obolibrary.org/obo/UBERON_0001361 femoral vein http://purl.obolibrary.org/obo/UBERON_0003516 hindlimb blood vessel http://purl.obolibrary.org/obo/UBERON_0005610 iliac vein http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/DOID_0111279 psoriasis 7 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R. http://purl.obolibrary.org/obo/DOID_0090003 agenesis of the corpus callosum with peripheral neuropathy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. http://purl.obolibrary.org/obo/UBERON_0002017 portal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/DOID_0111280 psoriasis 4 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0090004 progressive pseudorheumatoid arthropathy of childhood http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. http://purl.obolibrary.org/obo/UBERON_0003479 thoracic cavity vein http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/DOID_0111281 psoriasis 15 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1. http://purl.obolibrary.org/obo/DOID_0090005 Schwartz-Jampel syndrome 1 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. http://purl.obolibrary.org/obo/UBERON_0009141 craniocervical region vein http://purl.obolibrary.org/obo/UBERON_0013140 systemic vein http://purl.obolibrary.org/obo/UBERON_0013140 systemic vein http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/UBERON_0001644 trochlear nerve http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/UBERON_0001646 abducens nerve http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/UBERON_0001648 vestibulocochlear nerve http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/DOID_0111282 psoriasis 5 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_0090006 renal coloboma syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. http://purl.obolibrary.org/obo/UBERON_0001650 hypoglossal nerve http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/DOID_0111283 psoriasis 3 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 4q. http://purl.obolibrary.org/obo/DOID_0111284 psoriasis 9 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34. http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. http://purl.obolibrary.org/obo/UBERON_0001759 vagus nerve http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_0111285 psoriasis 11 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B. http://purl.obolibrary.org/obo/DOID_0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. http://purl.obolibrary.org/obo/UBERON_0001134 skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/DOID_0111286 psoriasis 1 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in the HLA-C gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue http://purl.obolibrary.org/obo/DOID_0111287 psoriasis 13 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_0111288 psoriasis 8 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease. http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue http://purl.obolibrary.org/obo/DOID_0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0111289 psoriasis 10 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23. http://purl.obolibrary.org/obo/UBERON_0000976 humerus http://purl.obolibrary.org/obo/UBERON_0015053 humerus endochondral element http://purl.obolibrary.org/obo/DOID_0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 http://purl.obolibrary.org/obo/DOID_0090007 immunodeficiency-centromeric instability-facial anomalies syndrome An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. http://purl.obolibrary.org/obo/UBERON_0000979 tibia http://purl.obolibrary.org/obo/UBERON_0015004 tibia endochondral element http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/UBERON_0003607 forelimb long bone http://purl.obolibrary.org/obo/UBERON_0008962 forelimb bone http://purl.obolibrary.org/obo/DOID_0111290 psoriasis 6 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG. http://purl.obolibrary.org/obo/DOID_0090012 severe combined immunodeficiency with sensitivity to ionizing radiation http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. http://purl.obolibrary.org/obo/UBERON_0003608 hindlimb long bone http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0012177 skin apocrine gland http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/DOID_0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. http://purl.obolibrary.org/obo/DOID_0111291 psoriasis 12 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114. http://purl.obolibrary.org/obo/UBERON_0001255 urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/DOID_0090014 severe combined immunodeficiency 104 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13. http://purl.obolibrary.org/obo/DOID_0111293 generalized epilepsy with febrile seizures plus 4 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24. http://purl.obolibrary.org/obo/DOID_0111294 generalized epilepsy with febrile seizures plus 2 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3. http://purl.obolibrary.org/obo/DOID_0111295 generalized epilepsy with febrile seizures plus 7 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. http://purl.obolibrary.org/obo/DOID_0111296 generalized epilepsy with febrile seizures plus 10 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. http://purl.obolibrary.org/obo/UBERON_0002110 gallbladder http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/DOID_0090015 Cenani-Lenz syndactyly syndrome http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance. http://purl.obolibrary.org/obo/SYMP_0000307 inibility to stand http://purl.obolibrary.org/obo/SYMP_0000329 motor weakness http://purl.obolibrary.org/obo/DOID_0090016 chromosome 5q deletion syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. http://purl.obolibrary.org/obo/SYMP_0020010 blurred vision with haloes http://purl.obolibrary.org/obo/SYMP_0000012 blurred vision http://purl.obolibrary.org/obo/DOID_0111298 familial febrile seizures 8 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. http://purl.obolibrary.org/obo/DOID_0090017 epidermolysis bullosa simplex with muscular dystrophy http://purl.obolibrary.org/obo/DOID_225 syndrome An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_0111299 generalized epilepsy with febrile seizures plus 8 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31. http://purl.obolibrary.org/obo/SYMP_0020003 acholic stool http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom http://purl.obolibrary.org/obo/DOID_0090018 TNF receptor–associated periodic syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0111300 generalized epilepsy with febrile seizures plus 6 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21. http://purl.obolibrary.org/obo/SYMP_0000229 bloody stool http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom http://purl.obolibrary.org/obo/DOID_0090019 sitosterolemia http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia. http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. http://purl.obolibrary.org/obo/DOID_0111301 generalized epilepsy with febrile seizures plus 9 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. http://purl.obolibrary.org/obo/SYMP_0000296 hepatic dysfunction http://purl.obolibrary.org/obo/SYMP_0000180 liver symptom http://purl.obolibrary.org/obo/DOID_0090021 split hand-foot malformation 1 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. http://purl.obolibrary.org/obo/DOID_0111302 generalized epilepsy with febrile seizures plus 1 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11. http://purl.obolibrary.org/obo/SYMP_0000350 parotid abscess http://purl.obolibrary.org/obo/SYMP_0000205 salivary gland symptom http://purl.obolibrary.org/obo/DOID_0090022 split hand-foot malformation 5 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. http://purl.obolibrary.org/obo/DOID_0111303 familial febrile seizures 9 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23. http://purl.obolibrary.org/obo/SYMP_0000224 leg weakness http://purl.obolibrary.org/obo/SYMP_0000222 limb weakness http://purl.obolibrary.org/obo/DOID_0090023 split hand-foot malformation 4 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. http://purl.obolibrary.org/obo/DOID_0111304 familial febrile seizures 10 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33. http://purl.obolibrary.org/obo/SYMP_0000220 areflexia http://purl.obolibrary.org/obo/SYMP_0000249 reflex symptom http://purl.obolibrary.org/obo/DOID_0111305 familial febrile seizures 4 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. http://purl.obolibrary.org/obo/DOID_0090024 split hand-foot malformation 1 with sensorineural hearing loss http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. http://purl.obolibrary.org/obo/SYMP_0000256 diminished gag reflex http://purl.obolibrary.org/obo/SYMP_0000249 reflex symptom http://purl.obolibrary.org/obo/DOID_0111306 familial febrile seizures 5 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. http://purl.obolibrary.org/obo/SYMP_0000273 clonic seizure http://purl.obolibrary.org/obo/SYMP_0000267 generalized seizure http://purl.obolibrary.org/obo/DOID_0090025 split hand-foot malformation 3 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0111307 familial febrile seizures 1 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21. http://purl.obolibrary.org/obo/SYMP_0000313 joint inflammation http://purl.obolibrary.org/obo/SYMP_0000312 joint symptom http://purl.obolibrary.org/obo/DOID_0090026 split hand-foot malformation 6 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0111308 familial febrile seizures 11 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2. http://purl.obolibrary.org/obo/SYMP_0000160 tracheobronchitis http://purl.obolibrary.org/obo/SYMP_0000385 throat symptom http://purl.obolibrary.org/obo/DOID_0090027 split hand-foot malformation 2 http://purl.obolibrary.org/obo/DOID_0090020 split hand-foot malformation A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. http://purl.obolibrary.org/obo/DOID_0111309 familial febrile seizures 6 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. http://purl.obolibrary.org/obo/SYMP_0019181 hoarseness http://purl.obolibrary.org/obo/SYMP_0000385 throat symptom http://purl.obolibrary.org/obo/DOID_0090028 familial isolated deficiency of vitamin E http://purl.obolibrary.org/obo/DOID_0050718 vitamin metabolic disorder A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. http://purl.obolibrary.org/obo/DOID_0111310 familial febrile seizures 2 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3. http://purl.obolibrary.org/obo/SYMP_0020055 pharynx inflammation http://purl.obolibrary.org/obo/SYMP_0000385 throat symptom http://purl.obolibrary.org/obo/DOID_0090029 CINCA Syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. http://purl.obolibrary.org/obo/DOID_0111311 familial febrile seizures 7 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in heterozygous mutation. http://purl.obolibrary.org/obo/SYMP_0000554 left lower quadrant abdominal rigidity http://purl.obolibrary.org/obo/SYMP_0000454 abdominal rigidity http://purl.obolibrary.org/obo/DOID_0090030 corticosteroid-binding globulin deficiency http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0111324 juvenile absence epilepsy 1 http://purl.obolibrary.org/obo/DOID_0060172 juvenile absence epilepsy A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2. http://purl.obolibrary.org/obo/SYMP_0000471 multiple sites abdominal rigidity http://purl.obolibrary.org/obo/SYMP_0000454 abdominal rigidity http://purl.obolibrary.org/obo/DOID_0090031 D-bifunctional protein deficiency http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. http://purl.obolibrary.org/obo/DOID_0111325 juvenile myoclonic epilepsy 10 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1. http://purl.obolibrary.org/obo/SYMP_0000562 right upper quadrant abdominal swelling http://purl.obolibrary.org/obo/SYMP_0000478 abdominal swelling http://purl.obolibrary.org/obo/DOID_0090032 Silverman-Handmaker type dyssegmental dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0111326 juvenile myoclonic epilepsy 3 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21. http://purl.obolibrary.org/obo/SYMP_0000496 epigastric abdominal tenderness http://purl.obolibrary.org/obo/SYMP_0000484 abdominal tenderness http://purl.obolibrary.org/obo/SYMP_0000591 left upper quadrant abdominal tenderness http://purl.obolibrary.org/obo/SYMP_0000484 abdominal tenderness http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life. http://purl.obolibrary.org/obo/DOID_0111327 juvenile myoclonic epilepsy 4 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14. http://purl.obolibrary.org/obo/SYMP_0019142 lymphadenopathy http://purl.obolibrary.org/obo/SYMP_0000521 enlargement of lymph nodes http://purl.obolibrary.org/obo/SYMP_0000736 lymph gland swelling http://purl.obolibrary.org/obo/SYMP_0000716 swelling symptom http://purl.obolibrary.org/obo/SYMP_0000717 leg swelling http://purl.obolibrary.org/obo/SYMP_0000716 swelling symptom http://purl.obolibrary.org/obo/DOID_0090034 myoclonic dystonia 11 http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0111328 juvenile myoclonic epilepsy 9 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36. http://purl.obolibrary.org/obo/DOID_0090035 myoclonic dystonia 15 http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11. http://purl.obolibrary.org/obo/SYMP_0000786 generalized pelvic mass http://purl.obolibrary.org/obo/SYMP_0000772 pelvic mass http://purl.obolibrary.org/obo/DOID_0111329 pyridoxamine 5'-phosphate oxidase deficiency http://purl.obolibrary.org/obo/DOID_0050718 vitamin metabolic disorder A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. http://purl.obolibrary.org/obo/DOID_0090036 myoclonic dystonia 26 http://purl.obolibrary.org/obo/DOID_0090033 myoclonic dystonia A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. http://purl.obolibrary.org/obo/SYMP_0000784 epigastric pelvic mass http://purl.obolibrary.org/obo/SYMP_0000772 pelvic mass http://purl.obolibrary.org/obo/DOID_0111330 combined saposin deficiency http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1. http://purl.obolibrary.org/obo/DOID_0090037 torsion dystonia 13 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13. http://purl.obolibrary.org/obo/SYMP_0000776 epigastric pelvic lump http://purl.obolibrary.org/obo/SYMP_0000773 pelvic lump http://purl.obolibrary.org/obo/DOID_0080588 agammaglobulinemia 5 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0090038 torsion dystonia 2 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. http://purl.obolibrary.org/obo/SYMP_0000802 epigastric abdominal mass http://purl.obolibrary.org/obo/SYMP_0000798 abdominal mass http://purl.obolibrary.org/obo/DOID_0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. http://purl.obolibrary.org/obo/DOID_0090039 torsion dystonia 6 http://purl.obolibrary.org/obo/DOID_0050835 generalized dystonia A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. http://purl.obolibrary.org/obo/SYMP_0000809 periumbilic abdominal lump http://purl.obolibrary.org/obo/SYMP_0000799 abdominal lump http://purl.obolibrary.org/obo/DOID_0111332 Pitt-Hopkins-like syndrome 2 http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/DOID_0111333 congenital myopathy 10A http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. http://purl.obolibrary.org/obo/DOID_0090040 torsion dystonia 7 http://purl.obolibrary.org/obo/DOID_0050836 focal dystonia A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p. http://purl.obolibrary.org/obo/SYMP_0000813 right upper quadrant abdominal lump http://purl.obolibrary.org/obo/SYMP_0000799 abdominal lump http://purl.obolibrary.org/obo/DOID_0111334 congenital leptin deficiency http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. http://purl.obolibrary.org/obo/DOID_0090041 torsion dystonia 4 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. http://purl.obolibrary.org/obo/SYMP_0000158 spleen symptom http://purl.obolibrary.org/obo/SYMP_0019138 immune system symptom http://purl.obolibrary.org/obo/DOID_0111335 myopathy with extrapyramidal signs http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/DOID_0090042 torsion dystonia 17 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. http://purl.obolibrary.org/obo/SYMP_0019141 lymphatic system symptom http://purl.obolibrary.org/obo/SYMP_0019138 immune system symptom http://purl.obolibrary.org/obo/DOID_0111336 craniofacial-deafness-hand syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. http://purl.obolibrary.org/obo/DOID_0090043 dopa-responsive dystonia http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. http://purl.obolibrary.org/obo/SYMP_0000208 anemia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/DOID_0111337 Jackson-Weiss syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. http://purl.obolibrary.org/obo/DOID_0090044 dystonia 9 http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. http://purl.obolibrary.org/obo/SYMP_0000634 leukocytosis http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/DOID_0111338 isolated elevated serum creatine phosphokinase levels http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. http://purl.obolibrary.org/obo/SYMP_0019143 coagulopathy http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/DOID_0090045 glucose transporter type 1 deficiency syndrome 2 http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0111339 Vohwinkel syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. http://purl.obolibrary.org/obo/SYMP_0000691 cytopenia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/DOID_0090046 dystonia 21 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3. http://purl.obolibrary.org/obo/DOID_0111340 dominant optic atrophy plus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. http://purl.obolibrary.org/obo/SYMP_0019148 septicemia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/DOID_0090047 paroxysmal nonkinesigenic dyskinesia 2 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31. http://purl.obolibrary.org/obo/DOID_0111341 primary failure of tooth eruption http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. http://purl.obolibrary.org/obo/SYMP_0019146 hyponatremia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/DOID_0090048 dystonia 16 http://purl.obolibrary.org/obo/DOID_0050837 multifocal dystonia A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0111342 dermatopathia pigmentosa reticularis http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/SYMP_0000182 bubo http://purl.obolibrary.org/obo/SYMP_0019155 lymphadenitis http://purl.obolibrary.org/obo/DOID_0090049 paroxysmal nonkinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_0111343 lateral meningocele syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12. http://purl.obolibrary.org/obo/HP_0032465 Bladder trabeculation http://purl.obolibrary.org/obo/HP_0025487 Abnormal bladder morphology http://purl.obolibrary.org/obo/DOID_0090050 dystonia 27 http://purl.obolibrary.org/obo/DOID_0050838 segmental dystonia A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0111344 myeloproliferative disorder with eosinophilia http://purl.obolibrary.org/obo/DOID_2226 myeloproliferative neoplasm A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. http://purl.obolibrary.org/obo/HP_0006561 Lipid accumulation in hepatocytes http://purl.obolibrary.org/obo/HP_0031137 Storage in hepatocytes http://purl.obolibrary.org/obo/DOID_0090051 dystonia 23 http://purl.obolibrary.org/obo/DOID_0050836 focal dystonia A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0111345 transient bullous dermolysis of the newborn http://purl.obolibrary.org/obo/DOID_4959 epidermolysis bullosa dystrophica An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. http://purl.obolibrary.org/obo/NCBITaxon_15956 Phleum http://purl.obolibrary.org/obo/NCBITaxon_2948964 Phleinae http://purl.obolibrary.org/obo/DOID_0090052 dystonia 24 http://purl.obolibrary.org/obo/DOID_0050836 focal dystonia A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. http://purl.obolibrary.org/obo/DOID_0111346 epidermolysis bullosa simplex 2F with mottled pigmentation http://purl.obolibrary.org/obo/DOID_4644 epidermolysis bullosa simplex An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in the keratin-5 gene (KRT5) on chromosome 12q13.13. http://purl.obolibrary.org/obo/NCBITaxon_1678143 Paslahepevirus balayani http://purl.obolibrary.org/obo/NCBITaxon_2948857 Paslahepevirus http://purl.obolibrary.org/obo/DOID_0090053 episodic kinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails http://purl.obolibrary.org/obo/DOID_0080224 autosomal dominant dystrophic epidermolysis bullosa An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. http://purl.obolibrary.org/obo/NCBITaxon_766764 Debaryomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_2916678 Serinales http://purl.obolibrary.org/obo/DOID_0090054 episodic kinesigenic dyskinesia 2 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. http://purl.obolibrary.org/obo/DOID_0111348 multiple epiphyseal dysplasia with myopia and deafness http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. http://purl.obolibrary.org/obo/NCBITaxon_6937 Ornithodoros http://purl.obolibrary.org/obo/NCBITaxon_2945031 Ornithodorinae http://purl.obolibrary.org/obo/DOID_0090055 dystonia 25 http://purl.obolibrary.org/obo/DOID_0050837 multifocal dystonia A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_0111349 hereditary desmoid disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. http://purl.obolibrary.org/obo/NCBITaxon_186541 Tai Forest ebolavirus http://purl.obolibrary.org/obo/NCBITaxon_3052461 Orthoebolavirus taiense http://purl.obolibrary.org/obo/DOID_0090056 dystonia 12 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0111350 Laurin-Sandrow syndrome http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. http://purl.obolibrary.org/obo/NCBITaxon_206160 Sandfly fever Naples virus http://purl.obolibrary.org/obo/NCBITaxon_3052666 Phlebovirus napoliense http://purl.obolibrary.org/obo/DOID_0090057 X-linked dystonia-parkinsonism http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0111351 D-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. http://purl.obolibrary.org/obo/NCBITaxon_2560602 Mumps orthorubulavirus http://purl.obolibrary.org/obo/NCBITaxon_3052560 Orthorubulavirus parotitidis http://purl.obolibrary.org/obo/DOID_0090058 torsion dystonia with onset in infancy http://purl.obolibrary.org/obo/DOID_0050835 generalized dystonia A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. http://purl.obolibrary.org/obo/DOID_0111352 D-2-hydroxyglutaric aciduria 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. http://purl.obolibrary.org/obo/NCBITaxon_28292 sandfly fever Sicilian virus http://purl.obolibrary.org/obo/NCBITaxon_3052681 Phlebovirus siciliaense http://purl.obolibrary.org/obo/DOID_0090059 enhanced S-cone syndrome http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration. http://purl.obolibrary.org/obo/DOID_0111353 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/DOID_0050763 ARC syndrome An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. http://purl.obolibrary.org/obo/CHEBI_47016 tetrahydrofuranone http://purl.obolibrary.org/obo/CHEBI_26912 oxolanes http://purl.obolibrary.org/obo/DOID_0090060 Wolcott-Rallison syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2. http://purl.obolibrary.org/obo/DOID_0111354 arthrogryposis, renal dysfunction, and cholestasis 2 http://purl.obolibrary.org/obo/DOID_0050763 ARC syndrome An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. http://purl.obolibrary.org/obo/CHEBI_39410 1,2,4-triazines http://purl.obolibrary.org/obo/CHEBI_38102 triazines http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. http://purl.obolibrary.org/obo/DOID_0111355 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/DOID_0050779 hydrolethalus syndrome A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. http://purl.obolibrary.org/obo/CHEBI_45924 trimethoprim http://purl.obolibrary.org/obo/CHEBI_51683 methoxybenzenes http://purl.obolibrary.org/obo/DOID_0090062 familial cold autoinflammatory syndrome 1 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. http://purl.obolibrary.org/obo/DOID_0111356 hydrolethalus syndrome 2 http://purl.obolibrary.org/obo/DOID_0050779 hydrolethalus syndrome A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/CHEBI_33860 aromatic amine http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/DOID_0090063 familial cold autoinflammatory syndrome 2 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080696 Winchester syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. http://purl.obolibrary.org/obo/CHEBI_50995 secondary amino compound http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound http://purl.obolibrary.org/obo/DOID_0090064 familial cold autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. http://purl.obolibrary.org/obo/DOID_0080697 Opitz GBBB syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. http://purl.obolibrary.org/obo/CHEBI_50996 tertiary amino compound http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound http://purl.obolibrary.org/obo/DOID_0090065 familial cold autoinflammatory syndrome 4 http://purl.obolibrary.org/obo/DOID_0090061 familial cold autoinflammatory syndrome A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_0080698 Teebi hypertelorism syndrome 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. http://purl.obolibrary.org/obo/CHEBI_35467 phosphorodiamide http://purl.obolibrary.org/obo/CHEBI_17102 phosphoramide http://purl.obolibrary.org/obo/DOID_0090066 Fanconi-like syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. http://purl.obolibrary.org/obo/DOID_0080699 glutathione synthetase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by the lack of glutathione production. http://purl.obolibrary.org/obo/CHEBI_36683 organochlorine compound http://purl.obolibrary.org/obo/CHEBI_23117 chlorine molecular entity http://purl.obolibrary.org/obo/DOID_0090067 Fuhrmann syndrome http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0080700 caudal regression syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by impairment of the development of the lower half of the body. http://purl.obolibrary.org/obo/CHEBI_133004 bisbenzylisoquinoline alkaloid http://purl.obolibrary.org/obo/CHEBI_22750 benzylisoquinoline alkaloid http://purl.obolibrary.org/obo/DOID_0090068 giant axonal neuropathy 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_0080702 medulloblastoma WNT activated http://purl.obolibrary.org/obo/DOID_0050902 medulloblastoma A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. http://purl.obolibrary.org/obo/CHEBI_16899 D-mannitol http://purl.obolibrary.org/obo/CHEBI_29864 mannitol http://purl.obolibrary.org/obo/DOID_0090069 giant axonal neuropathy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_0080703 medulloblastoma SHH activated http://purl.obolibrary.org/obo/DOID_0050902 medulloblastoma A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. http://purl.obolibrary.org/obo/CHEBI_35681 secondary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol http://purl.obolibrary.org/obo/DOID_0090071 hypogonadotropic hypogonadism 11 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_0080704 medulloblastoma SHH activated and TP53 mutant http://purl.obolibrary.org/obo/DOID_0080703 medulloblastoma SHH activated A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. http://purl.obolibrary.org/obo/CHEBI_53018 2,4-dinitrophenyl group http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/DOID_0090072 hypogonadotropic hypogonadism 12 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_0080705 medulloblastoma SHH activated and TP53 wild-type http://purl.obolibrary.org/obo/DOID_0080703 medulloblastoma SHH activated A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. http://purl.obolibrary.org/obo/CHEBI_33859 aromatic carboxylic acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/DOID_0090073 hypogonadotropic hypogonadism 13 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0080706 medulloblastoma non-WNT/non-SHH http://purl.obolibrary.org/obo/DOID_0050902 medulloblastoma A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33709 amino acid http://purl.obolibrary.org/obo/DOID_0090074 hypogonadotropic hypogonadism 8 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. http://purl.obolibrary.org/obo/DOID_0080707 medulloblastoma non-WNT/non-SHH group 3 http://purl.obolibrary.org/obo/DOID_0080706 medulloblastoma non-WNT/non-SHH A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. http://purl.obolibrary.org/obo/CHEBI_15400 (-)-carvone http://purl.obolibrary.org/obo/CHEBI_38265 carvone http://purl.obolibrary.org/obo/DOID_0090075 hypogonadotropic hypogonadism 15 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_0080708 medulloblastoma non-WNT/non-SHH group 4 http://purl.obolibrary.org/obo/DOID_0080706 medulloblastoma non-WNT/non-SHH A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 gene mutations, while chromosome 17 abnormalities may be present. http://purl.obolibrary.org/obo/CHEBI_28593 quinidine http://purl.obolibrary.org/obo/CHEBI_51323 cinchona alkaloid http://purl.obolibrary.org/obo/DOID_0090076 hypogonadotropic hypogonadism 18 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. http://purl.obolibrary.org/obo/DOID_0111898 CK syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. http://purl.obolibrary.org/obo/CHEBI_53213 diisocyanate http://purl.obolibrary.org/obo/CHEBI_53212 isocyanates http://purl.obolibrary.org/obo/DOID_0090077 hypogonadotropic hypogonadism 4 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_0111899 X-linked thrombophilia due to factor IX defect http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/DOID_0090078 hypogonadotropic hypogonadism 7 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. http://purl.obolibrary.org/obo/DOID_0111900 autosomal dominant thrombophilia due to protein S deficiency http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. http://purl.obolibrary.org/obo/DOID_0111901 heparin cofactor II deficiency http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/CL_4023154 myelinating glial cell http://purl.obolibrary.org/obo/CL_0000125 glial cell http://purl.obolibrary.org/obo/DOID_0090079 hypogonadotropic hypogonadism 17 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_0111902 thrombophilia due to activated protein C resistance http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell http://purl.obolibrary.org/obo/CL_0000219 motile cell http://purl.obolibrary.org/obo/DOID_0090080 hypogonadotropic hypogonadism 16 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_0111903 thrombophilia due to HRG deficiency http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/DOID_0090081 hypogonadotropic hypogonadism 22 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31. http://purl.obolibrary.org/obo/DOID_0111904 autosomal recessive thrombophilia due to protein C deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. http://purl.obolibrary.org/obo/CL_4052061 epidermal keratinocyte http://purl.obolibrary.org/obo/CL_0000362 epidermal cell http://purl.obolibrary.org/obo/DOID_0090082 hypogonadotropic hypogonadism 20 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_0111905 autosomal recessive thrombophilia due to protein S deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. http://purl.obolibrary.org/obo/CL_2000029 central nervous system neuron http://purl.obolibrary.org/obo/CL_0000540 neuron http://purl.obolibrary.org/obo/DOID_0090083 hypogonadotropic hypogonadism 2 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. http://purl.obolibrary.org/obo/DOID_0111906 thrombophilia due to decreased release of PLAT http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls. http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte http://purl.obolibrary.org/obo/DOID_0090084 hypogonadotropic hypogonadism 5 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. http://purl.obolibrary.org/obo/DOID_0111907 thrombophilia due to thrombin defect http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. http://purl.obolibrary.org/obo/CL_2000074 splenocyte http://purl.obolibrary.org/obo/CL_0000738 leukocyte http://purl.obolibrary.org/obo/DOID_0090085 hypogonadotropic hypogonadism 9 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_0111908 thrombophilia due to thrombomodulin defect http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage http://purl.obolibrary.org/obo/DOID_0090086 hypogonadotropic hypogonadism 6 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_0111909 autosomal dominant thrombophilia due to protein C deficiency http://purl.obolibrary.org/obo/DOID_3756 protein C deficiency A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. http://purl.obolibrary.org/obo/CL_2000064 ovarian surface epithelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/DOID_0090087 hypogonadotropic hypogonadism 14 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure http://purl.obolibrary.org/obo/DOID_12336 male infertility A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa. http://purl.obolibrary.org/obo/DOID_10575 calcium metabolism disease http://purl.obolibrary.org/obo/DOID_0050032 mineral metabolism disease http://purl.obolibrary.org/obo/DOID_0090088 hypogonadotropic hypogonadism 24 without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. http://purl.obolibrary.org/obo/DOID_0111911 spermatogenic failure 34 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1. http://purl.obolibrary.org/obo/DOID_2351 iron metabolism disease http://purl.obolibrary.org/obo/DOID_0050032 mineral metabolism disease http://purl.obolibrary.org/obo/DOID_0090089 hypogonadotropic hypogonadism 10 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0111912 spermatogenic failure 41 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2. http://purl.obolibrary.org/obo/DOID_2485 phosphorus metabolism disease http://purl.obolibrary.org/obo/DOID_0050032 mineral metabolism disease http://purl.obolibrary.org/obo/DOID_0090090 hypogonadotropic hypogonadism 19 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_0111913 spermatogenic failure 30 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33. http://purl.obolibrary.org/obo/DOID_445 Bartter disease http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease http://purl.obolibrary.org/obo/DOID_0090091 hypogonadotropic hypogonadism 23 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0111914 spermatogenic failure 35 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_1355 paranasal sinus lymphoma http://purl.obolibrary.org/obo/DOID_0060058 lymphoma http://purl.obolibrary.org/obo/DOID_0090092 hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_0111915 spermatogenic failure 33 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_1357 maxillary sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/DOID_0090093 hypogonadotropic hypogonadism 21 with or without anosmia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. http://purl.obolibrary.org/obo/DOID_0111916 spermatogenic failure 28 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2. http://purl.obolibrary.org/obo/DOID_1360 frontal sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/DOID_0090094 hypogonadotropic hypogonadism 1 with or without anosmia http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. http://purl.obolibrary.org/obo/DOID_0111917 spermatogenic failure 43 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. http://purl.obolibrary.org/obo/DOID_1363 ethmoid sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/DOID_0110712 Oguchi disease-1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0111918 spermatogenic failure 40 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_14546 sphenoidal sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/DOID_0110713 Oguchi disease-2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_0111919 spermatogenic failure 38 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1352 paranasal sinus disease http://purl.obolibrary.org/obo/DOID_0110910 leukocyte adhesion deficiency 1 http://purl.obolibrary.org/obo/DOID_6612 leukocyte adhesion deficiency A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_0111920 spermatogenic failure 25 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12. http://purl.obolibrary.org/obo/DOID_2598 laryngeal benign neoplasm http://purl.obolibrary.org/obo/DOID_786 laryngeal disease http://purl.obolibrary.org/obo/DOID_0110912 leukocyte adhesion deficiency 3 http://purl.obolibrary.org/obo/DOID_6612 leukocyte adhesion deficiency A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_0111921 spermatogenic failure 36 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2. http://purl.obolibrary.org/obo/DOID_3906 bronchial benign neoplasm http://purl.obolibrary.org/obo/DOID_1176 bronchial disease http://purl.obolibrary.org/obo/DOID_0080342 Simpson-Golabi-Behmel syndrome type 2 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. http://purl.obolibrary.org/obo/DOID_0111922 spermatogenic failure 31 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. http://purl.obolibrary.org/obo/DOID_13110 bladder squamous papilloma http://purl.obolibrary.org/obo/DOID_0050623 bladder benign neoplasm http://purl.obolibrary.org/obo/DOID_0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 http://purl.obolibrary.org/obo/DOID_8955 sideroblastic anemia A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0111923 spermatogenic failure 42 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22. http://purl.obolibrary.org/obo/DOID_14777 benign familial neonatal epilepsy http://purl.obolibrary.org/obo/DOID_0050702 neonatal period electroclinical syndrome http://purl.obolibrary.org/obo/DOID_0080344 blepharocheilodontic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. http://purl.obolibrary.org/obo/DOID_0111924 spermatogenic failure 26 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/DOID_11312 Mobitz type II atrioventricular block http://purl.obolibrary.org/obo/DOID_0050822 second-degree atrioventricular block http://purl.obolibrary.org/obo/DOID_0080345 blepharocheilodontic syndrome 1 http://purl.obolibrary.org/obo/DOID_0080344 blepharocheilodontic syndrome A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_0111925 spermatogenic failure 32 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_13884 sick sinus syndrome http://purl.obolibrary.org/obo/DOID_0050824 sinoatrial node disease http://purl.obolibrary.org/obo/DOID_0080346 blepharocheilodontic syndrome 2 http://purl.obolibrary.org/obo/DOID_0080344 blepharocheilodontic syndrome A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_0111926 spermatogenic failure 39 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_11299 vertebral artery occlusion http://purl.obolibrary.org/obo/DOID_5976 occlusion precerebral artery http://purl.obolibrary.org/obo/DOID_0080347 malignant pheochromocytoma http://purl.obolibrary.org/obo/DOID_5719 adrenal medulla cancer An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. http://purl.obolibrary.org/obo/DOID_0111927 spermatogenic failure 37 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2. http://purl.obolibrary.org/obo/DOID_13095 vertebral artery insufficiency http://purl.obolibrary.org/obo/DOID_225 syndrome http://purl.obolibrary.org/obo/DOID_0080348 Alzheimer's disease 1 http://purl.obolibrary.org/obo/DOID_10652 Alzheimer's disease An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. http://purl.obolibrary.org/obo/DOID_0111928 spermatogenic failure 27 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. http://purl.obolibrary.org/obo/DOID_13446 basilar artery occlusion http://purl.obolibrary.org/obo/DOID_5976 occlusion precerebral artery http://purl.obolibrary.org/obo/DOID_0080349 developmental and epileptic encephalopathy 39 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0111929 spermatogenic failure 24 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13. http://purl.obolibrary.org/obo/DOID_14006 splenic artery aneurysm http://purl.obolibrary.org/obo/DOID_0050828 artery disease http://purl.obolibrary.org/obo/DOID_0080350 retinitis pigmentosa 77 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0111930 spermatogenic failure 29 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12. http://purl.obolibrary.org/obo/DOID_2388 renal artery disease http://purl.obolibrary.org/obo/DOID_0050828 artery disease http://purl.obolibrary.org/obo/DOID_0080351 CLOVES syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_0081001 Cowden syndrome 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_3407 carotid artery disease http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_0080603 ankylosing spondylitis 1 http://purl.obolibrary.org/obo/DOID_7147 ankylosing spondylitis A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3. http://purl.obolibrary.org/obo/DOID_0081004 high-grade B-cell lymphoma double-hit/triple-hit http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. http://purl.obolibrary.org/obo/DOID_3527 cerebral arterial disease http://purl.obolibrary.org/obo/DOID_13089 intracranial arterial disease http://purl.obolibrary.org/obo/DOID_0080604 ankylosing spondylitis 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34. http://purl.obolibrary.org/obo/DOID_0081360 spastic quadriplegic cerebral palsy 2 http://purl.obolibrary.org/obo/DOID_10970 spastic quadriplegic cerebral palsy A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. http://purl.obolibrary.org/obo/DOID_116 pericardium cancer http://purl.obolibrary.org/obo/DOID_117 heart cancer http://purl.obolibrary.org/obo/DOID_0080605 ankylosing spondylitis 3 http://purl.obolibrary.org/obo/DOID_7147 ankylosing spondylitis A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3. http://purl.obolibrary.org/obo/DOID_0060920 otosclerosis 1 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/DOID_0050851 glomerulosclerosis http://purl.obolibrary.org/obo/DOID_0080606 anterior segment dysgenesis 1 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0060921 otosclerosis 2 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. http://purl.obolibrary.org/obo/DOID_12705 Friedreich ataxia http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/DOID_0080607 anterior segment dysgenesis 2 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. http://purl.obolibrary.org/obo/DOID_0060922 otosclerosis 3 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. http://purl.obolibrary.org/obo/DOID_10817 sexual sadism http://purl.obolibrary.org/obo/DOID_0060043 sexual health disorder http://purl.obolibrary.org/obo/DOID_0080608 anterior segment dysgenesis 3 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. http://purl.obolibrary.org/obo/DOID_0060923 otosclerosis 4 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. http://purl.obolibrary.org/obo/DOID_10849 sexual masochism http://purl.obolibrary.org/obo/DOID_0060043 sexual health disorder http://purl.obolibrary.org/obo/DOID_0080609 anterior segment dysgenesis 4 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. http://purl.obolibrary.org/obo/DOID_0060924 otosclerosis 5 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. http://purl.obolibrary.org/obo/DOID_10834 voyeurism http://purl.obolibrary.org/obo/DOID_0060044 paraphilia disorder http://purl.obolibrary.org/obo/DOID_0080610 anterior segment dysgenesis 5 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_0060925 otosclerosis 7 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. http://purl.obolibrary.org/obo/DOID_1235 fetishism http://purl.obolibrary.org/obo/DOID_0060044 paraphilia disorder http://purl.obolibrary.org/obo/DOID_0080611 anterior segment dysgenesis 6 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_0060926 otosclerosis 8 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. http://purl.obolibrary.org/obo/DOID_13351 pedophilia http://purl.obolibrary.org/obo/DOID_0060044 paraphilia disorder http://purl.obolibrary.org/obo/DOID_0080612 anterior segment dysgenesis 7 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_0060927 otosclerosis 10 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. http://purl.obolibrary.org/obo/DOID_10540 gastric lymphoma http://purl.obolibrary.org/obo/DOID_10534 stomach cancer http://purl.obolibrary.org/obo/DOID_0080613 anterior segment dysgenesis 8 http://purl.obolibrary.org/obo/DOID_0060648 anterior segment dysgenesis An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0060928 otosclerosis 11 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_10813 nasal cavity lymphoma http://purl.obolibrary.org/obo/DOID_10811 nasal cavity cancer http://purl.obolibrary.org/obo/DOID_0111670 primary hyperoxaluria type 1 http://purl.obolibrary.org/obo/DOID_2977 primary hyperoxaluria A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. http://purl.obolibrary.org/obo/DOID_0060929 non-syndromic X-linked intellectual developmental disorder 111 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. http://purl.obolibrary.org/obo/DOID_0070509 Schinzel Giedion syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. http://purl.obolibrary.org/obo/DOID_1106 esophagus lymphoma http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer http://purl.obolibrary.org/obo/DOID_0111671 primary hyperoxaluria type 2 http://purl.obolibrary.org/obo/DOID_2977 primary hyperoxaluria A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. http://purl.obolibrary.org/obo/DOID_0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. http://purl.obolibrary.org/obo/DOID_11241 appendix lymphoma http://purl.obolibrary.org/obo/DOID_11239 appendix cancer http://purl.obolibrary.org/obo/DOID_0111672 primary hyperoxaluria type 3 http://purl.obolibrary.org/obo/DOID_2977 primary hyperoxaluria A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. http://purl.obolibrary.org/obo/DOID_0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/DOID_11821 bladder lymphoma http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_0111673 Saul-Wilson syndrome http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0070512 neurodevelopmental disorder with hypotonia and speech delay http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. http://purl.obolibrary.org/obo/DOID_12001 tracheal lymphoma http://purl.obolibrary.org/obo/DOID_11920 tracheal cancer http://purl.obolibrary.org/obo/DOID_0111674 intellectual developmental disorder with short stature and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. http://purl.obolibrary.org/obo/DOID_0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_12253 testicular lymphoma http://purl.obolibrary.org/obo/DOID_2998 testicular cancer http://purl.obolibrary.org/obo/DOID_0111675 neurooculocardiogenitourinary syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. http://purl.obolibrary.org/obo/DOID_0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. http://purl.obolibrary.org/obo/DOID_12339 retroperitoneal lymphoma http://purl.obolibrary.org/obo/DOID_5875 retroperitoneal cancer http://purl.obolibrary.org/obo/DOID_0111676 high molecular weight kininogen deficiency http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. http://purl.obolibrary.org/obo/DOID_0070515 chromosome 16p11.2 deletion syndrome, 593-kb http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). http://purl.obolibrary.org/obo/DOID_13996 small intestine lymphoma http://purl.obolibrary.org/obo/DOID_10154 small intestine cancer http://purl.obolibrary.org/obo/DOID_0111677 familial benign fleck retina http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. http://purl.obolibrary.org/obo/DOID_0070516 Mitchell syndrome http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_14139 anus lymphoma http://purl.obolibrary.org/obo/DOID_14110 anus cancer http://purl.obolibrary.org/obo/DOID_0111678 hereditary folate malabsorption http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. http://purl.obolibrary.org/obo/DOID_0081395 Harel-Yoon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_14489 ureteral lymphoma http://purl.obolibrary.org/obo/DOID_11819 ureter cancer http://purl.obolibrary.org/obo/DOID_0111679 glutamate formiminotransferase deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_1522 cecum lymphoma http://purl.obolibrary.org/obo/DOID_1521 cecum cancer http://purl.obolibrary.org/obo/DOID_0111680 essential fructosuria http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. http://purl.obolibrary.org/obo/DOID_0081397 Vissers-Bodmer syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_1523 colon lymphoma http://purl.obolibrary.org/obo/DOID_219 colon cancer http://purl.obolibrary.org/obo/DOID_0111681 congenital nonspherocytic hemolytic anemia 7 http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. http://purl.obolibrary.org/obo/DOID_0081398 holoprosencephaly 12 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_11624 penile benign neoplasm http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/DOID_0111682 cystic renal dysplasia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. http://purl.obolibrary.org/obo/DOID_0070522 peeling skin syndrome 3 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13. http://purl.obolibrary.org/obo/DOID_916 liver benign neoplasm http://purl.obolibrary.org/obo/DOID_409 liver disease http://purl.obolibrary.org/obo/DOID_0111683 neurofibromatosis-Noonan syndrome http://purl.obolibrary.org/obo/DOID_0080690 RASopathy A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. http://purl.obolibrary.org/obo/DOID_0060933 developmental delay, dysmorphic facies, and brain anomalies http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_501 central nervous system hemangioma http://purl.obolibrary.org/obo/DOID_255 hemangioma http://purl.obolibrary.org/obo/DOID_0111684 hereditary mixed polyposis syndrome http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated. http://purl.obolibrary.org/obo/DOID_0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. http://purl.obolibrary.org/obo/DOID_60006 benign vascular tumor http://purl.obolibrary.org/obo/DOID_0060091 cardiovascular organ benign neoplasm http://purl.obolibrary.org/obo/DOID_0111685 hereditary mixed polyposis syndrome 1 http://purl.obolibrary.org/obo/DOID_0111684 hereditary mixed polyposis syndrome A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. http://purl.obolibrary.org/obo/DOID_0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_166 melanotic neuroectodermal tumor http://purl.obolibrary.org/obo/DOID_0060094 bone benign neoplasm http://purl.obolibrary.org/obo/DOID_0111686 hereditary mixed polyposis syndrome 2 http://purl.obolibrary.org/obo/DOID_0111684 hereditary mixed polyposis syndrome A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. http://purl.obolibrary.org/obo/DOID_0060936 dystonia 28, childhood-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/DOID_4386 myofibroma http://purl.obolibrary.org/obo/DOID_0060123 connective tissue benign neoplasm http://purl.obolibrary.org/obo/DOID_0111687 Potocki-Shaffer syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_0060937 dystonia 30 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_11151 cholecystolithiasis http://purl.obolibrary.org/obo/DOID_0060262 gallbladder disease http://purl.obolibrary.org/obo/DOID_0111688 Ayme-Gripp syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. http://purl.obolibrary.org/obo/DOID_0060938 dystonia 31 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_11665 Patau syndrome http://purl.obolibrary.org/obo/DOID_0080014 chromosomal disease http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy http://purl.obolibrary.org/obo/DOID_0050705 adolescence-adult electroclinical syndrome An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. http://purl.obolibrary.org/obo/DOID_0060939 dystonia 32 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_10488 imperforate anus http://purl.obolibrary.org/obo/DOID_3128 anus disease http://purl.obolibrary.org/obo/DOID_0111690 familial adult myoclonic epilepsy 1 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. http://purl.obolibrary.org/obo/DOID_0060940 dystonia 33 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_11044 gastroschisis http://purl.obolibrary.org/obo/DOID_0080015 physical disorder http://purl.obolibrary.org/obo/DOID_0111691 familial adult myoclonic epilepsy 5 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. http://purl.obolibrary.org/obo/DOID_0060944 episodic kinesigenic dyskinesia 3 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_11367 congenital aphakia http://purl.obolibrary.org/obo/DOID_110 lens disease http://purl.obolibrary.org/obo/DOID_0111692 familial adult myoclonic epilepsy 2 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. http://purl.obolibrary.org/obo/DOID_0060955 dystonia 35, childhood-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. http://purl.obolibrary.org/obo/DOID_14177 congenital hypogammaglobulinemia http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency http://purl.obolibrary.org/obo/DOID_0111693 familial adult myoclonic epilepsy 4 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. http://purl.obolibrary.org/obo/DOID_0060956 dystonia 37, early-onset with striatal lesions http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality http://purl.obolibrary.org/obo/DOID_863 nervous system disease http://purl.obolibrary.org/obo/DOID_0111694 familial adult myoclonic epilepsy 7 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. http://purl.obolibrary.org/obo/DOID_0060957 myoclonic dystonia 34 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia http://purl.obolibrary.org/obo/DOID_583 hemolytic anemia http://purl.obolibrary.org/obo/DOID_0111695 familial adult myoclonic epilepsy 3 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. http://purl.obolibrary.org/obo/DOID_0060966 dystonia 22, juvenile-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_1260 parametritis http://purl.obolibrary.org/obo/DOID_1003 pelvic inflammatory disease http://purl.obolibrary.org/obo/DOID_0111696 familial adult myoclonic epilepsy 6 http://purl.obolibrary.org/obo/DOID_0111689 familial adult myoclonic epilepsy A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. http://purl.obolibrary.org/obo/DOID_0060967 dystonia 22, adult-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. http://purl.obolibrary.org/obo/DOID_11177 total internal ophthalmoplegia http://purl.obolibrary.org/obo/DOID_238 pupil disease http://purl.obolibrary.org/obo/CHEBI_172368 brominated flame retardant http://purl.obolibrary.org/obo/CHEBI_79314 flame retardant A flame retardant that is brominated flame retardant, contain bromine and are the most abundantly used flame retardants. Used in many consumer goods, including electronics, furniture, building materials, etc. and have been linked to endocrine disruption among other effects. http://purl.obolibrary.org/obo/DOID_0070533 long QT syndrome 16 http://purl.obolibrary.org/obo/DOID_2843 long QT syndrome A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common. http://purl.obolibrary.org/obo/DOID_11637 accommodative spasm http://purl.obolibrary.org/obo/DOID_10034 eye accommodation disease http://purl.obolibrary.org/obo/CHEBI_172390 glycol ether http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A hydroxyether which contains both an ether and alcohol functional groups. It is one of the most versatile classes of organic solvents which are commonly used in paints, cleaners, adhesives, pharmaceuticals and cosmetics. http://purl.obolibrary.org/obo/DOID_0070534 arrhythmogenic left ventricular cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. http://purl.obolibrary.org/obo/DOID_11638 presbyopia http://purl.obolibrary.org/obo/DOID_10034 eye accommodation disease http://purl.obolibrary.org/obo/CHEBI_172397 perfluoroalkyl substance http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor An endocrine disruptor that is perfluoroalkyl substance, used widely in industrial applications, such as firefighting foams and non-stick pan, paper, and textile coatings. http://purl.obolibrary.org/obo/DOID_0070535 arrhythmogenic biventricular cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. http://purl.obolibrary.org/obo/DOID_12304 conjunctival pigmentation http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease http://purl.obolibrary.org/obo/SYMP_0020044 hair shedding http://purl.obolibrary.org/obo/SYMP_0020040 hair symptom A hair symptom that is characterized by significant falling out of hair, which may be a result of stress, high fever, and other factors. http://purl.obolibrary.org/obo/DOID_0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. http://purl.obolibrary.org/obo/DOID_12305 Bloch-Sulzberger syndrome http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease http://purl.obolibrary.org/obo/DOID_0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. http://purl.obolibrary.org/obo/DOID_12311 stromal corneal pigmentation http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease http://purl.obolibrary.org/obo/DOID_0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0070538 syndromic X-linked intellectual developmental disorder bain type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. http://purl.obolibrary.org/obo/DOID_11028 pseudopterygium http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_0081264 developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). http://purl.obolibrary.org/obo/DOID_0070539 Halperin-Birk syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_11547 corneal deposit http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_0081266 complex cortical dysplasia with other brain malformations 15 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_0081431 microcephaly, short stature, and limb abnormalities http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. http://purl.obolibrary.org/obo/DOID_11552 Bowman's membrane folds or rupture http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the premature onset of age-related pathologies. http://purl.obolibrary.org/obo/DOID_0081432 microcephaly-micromelia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease http://purl.obolibrary.org/obo/DOID_0060950 hypervalinemia and hyperleucine-isoleucinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0081433 peroxisome biogenesis disorder 4B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. http://purl.obolibrary.org/obo/DOID_12753 corneal staphyloma http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_0060951 polycystic kidney disease 6 http://purl.obolibrary.org/obo/DOID_898 autosomal dominant polycystic kidney disease An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_0081434 peroxisome biogenesis disorder 5B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_13447 corneal argyrosis http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_0060960 orofaciodigital syndrome XIX http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0081435 peroxisome biogenesis disorder 6B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_1436 corneal ectasia http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_0060961 orofaciodigital syndrome XVIII http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_0081436 peroxisome biogenesis disorder 7B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_2566 corneal dystrophy http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_0060962 orofaciodigital syndrome XX http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_0081437 peroxisome biogenesis disorder 8B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_10428 stable condition keratoconus http://purl.obolibrary.org/obo/DOID_10126 keratoconus http://purl.obolibrary.org/obo/DOID_0060968 hypotrichosis 15 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_0081438 peroxisome biogenesis disorder 9B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_11120 psychologic dyspareunia http://purl.obolibrary.org/obo/DOID_10132 psychosexual disorder http://purl.obolibrary.org/obo/DOID_0060970 Cornelia de Lange syndrome 6 http://purl.obolibrary.org/obo/DOID_11725 Cornelia de Lange syndrome A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0081439 peroxisome biogenesis disorder 11B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. http://purl.obolibrary.org/obo/DOID_13709 premature ejaculation http://purl.obolibrary.org/obo/DOID_10132 psychosexual disorder http://purl.obolibrary.org/obo/DOID_0070545 developmental and epileptic encephalopathy 116 http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/DOID_0081440 peroxisome biogenesis disorder 10B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24. http://purl.obolibrary.org/obo/DOID_13868 hypoactive sexual desire disorder http://purl.obolibrary.org/obo/DOID_10132 psychosexual disorder http://purl.obolibrary.org/obo/DOID_0060973 WHIM syndrome 2 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_0081441 Nicolaides-Baraitser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_11029 pinguecula http://purl.obolibrary.org/obo/DOID_10139 conjunctival degeneration http://purl.obolibrary.org/obo/DOID_0061170 autoinflammation, panniculitis, and dermatosis syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by neonatal or infantile onset of systemic inflammation, fever, panniculitis, aseptic skin lesions, leukocytosis, neutrophilia, and elevated inflammatory markers, including C-reactive protein, with no overt primary immunodeficiency that has_material_basis_in mutation in the OTULIN gene on chromosome 5p15, that encodes a deubiquitinase with linear linkage specificity. http://purl.obolibrary.org/obo/DOID_0081442 blepharophimosis-impaired intellectual development syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_12895 keratoconjunctivitis sicca http://purl.obolibrary.org/obo/DOID_10140 dry eye syndrome http://purl.obolibrary.org/obo/DOID_0061153 monilethrix 3 http://purl.obolibrary.org/obo/DOID_0050472 monilethrix A hair disease that is characterized by periodic narrowing ('beading') along the hair shaft visible on microscopy and that has_material_basis_in heterozygous mutation in the KRT83 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0081443 Stolerman neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_13499 jejunal cancer http://purl.obolibrary.org/obo/DOID_10154 small intestine cancer http://purl.obolibrary.org/obo/TRANS_0000018 placental transmission http://purl.obolibrary.org/obo/TRANS_0000006 congenital transmission Placental transmission is a congenital transmission process during which the pathogen is transmitted directly from mother to child across the placental barrier. http://purl.obolibrary.org/obo/DOID_0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_14202 adult dermatomyositis http://purl.obolibrary.org/obo/DOID_10223 dermatomyositis http://purl.obolibrary.org/obo/DOID_0060034 dropped head syndrome http://purl.obolibrary.org/obo/DOID_0060564 spinal disease A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. http://purl.obolibrary.org/obo/DOID_0070546 primary pigmented nodular adrenocortical disease 1 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2. http://purl.obolibrary.org/obo/DOID_14203 childhood type dermatomyositis http://purl.obolibrary.org/obo/DOID_10223 dermatomyositis http://purl.obolibrary.org/obo/DOID_0080930 primary localized cutaneous amyloidosis 1 http://purl.obolibrary.org/obo/DOID_0050639 primary cutaneous amyloidosis A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. http://purl.obolibrary.org/obo/DOID_0070552 epidermolytic palmoplantar keratoderma 1 http://purl.obolibrary.org/obo/DOID_0080223 epidermolytic palmoplantar keratoderma An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. http://purl.obolibrary.org/obo/DOID_13209 right bundle branch block http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease http://purl.obolibrary.org/obo/SYMP_0020061 outlet dysfunction constipation http://purl.obolibrary.org/obo/SYMP_0019180 constipation A constipation that is characterized by difficulty passing bowel movements after they reach the rectum. One experiences difficulty evacuating the stool and often has to strain or press the fingers into the vagina or in front of or into the rectum to help remove the stool. Outlet dysfunction can be caused by inappropriate or abnormal muscle contraction of the pelvic floor (called pelvic floor dyssynergia or dyssynergic defecation) which can respond to biofeedback. It may also be due to a rectocele or other structural changes in the pelvic floor that will require medical or at times, surgical treatment. http://purl.obolibrary.org/obo/DOID_0070587 spermatogenic failure 88 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/DOID_14451 hyperkalemic periodic paralysis http://purl.obolibrary.org/obo/DOID_1029 familial periodic paralysis http://purl.obolibrary.org/obo/SYMP_0020062 soft tissue necrosis http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom A musculoskeletal system symptom that is characterized by necrosis (i.e. tissue death) of soft tissue, including muscle, fat, blood vessels, nerves, tendons, and tissues that surround the bones and joints. http://purl.obolibrary.org/obo/DOID_0070618 rhabdoid tumor predisposition syndrome 1 http://purl.obolibrary.org/obo/DOID_0070617 rhabdoid tumor predisposition syndrome A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_14452 hypokalemic periodic paralysis http://purl.obolibrary.org/obo/DOID_1029 familial periodic paralysis http://purl.obolibrary.org/obo/DOID_0070405 hypomyelinating leukodystrophy 16 http://purl.obolibrary.org/obo/DOID_0060786 hypomyelinating leukodystrophy A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. http://purl.obolibrary.org/obo/DOID_0061001 glycine encephalopathy 2 http://purl.obolibrary.org/obo/DOID_9268 glycine encephalopathy A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_13921 bacterial esophagitis http://purl.obolibrary.org/obo/DOID_11963 esophagitis http://purl.obolibrary.org/obo/DOID_0070465 autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. http://purl.obolibrary.org/obo/DOID_0051001 congenital dyserythropoietic anemia type IIIb http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_1703 Richter's syndrome http://purl.obolibrary.org/obo/DOID_1040 chronic lymphocytic leukemia http://purl.obolibrary.org/obo/DOID_0070468 Yoon-Bellen neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. http://purl.obolibrary.org/obo/DOID_0051083 developmental and epileptic encephalopathy 111 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in homozygous mutation in the DEPDC5 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_10442 hypopyon ulcer http://purl.obolibrary.org/obo/DOID_10443 hypopyon http://purl.obolibrary.org/obo/DOID_0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/DOID_0051084 developmental and epileptic encephalopathy 112 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_10480 diaphragmatic eventration http://purl.obolibrary.org/obo/DOID_10481 diaphragm disease http://purl.obolibrary.org/obo/DOID_0070471 early-onset epilepsy 2 http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0051085 developmental and epileptic encephalopathy 113 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam and that has_material_basis_in homozygous mutation in the SV2A gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_10536 malignant gastric granular cell tumor http://purl.obolibrary.org/obo/DOID_10534 stomach cancer http://purl.obolibrary.org/obo/DOID_0070472 early-onset epilepsy 3 http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0051086 developmental and epileptic encephalopathy 114 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_10544 pylorus cancer http://purl.obolibrary.org/obo/DOID_10534 stomach cancer http://purl.obolibrary.org/obo/DOID_0070517 retinal macular dystrophy 2 http://purl.obolibrary.org/obo/DOID_0070438 retinal macular dystrophy A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. http://purl.obolibrary.org/obo/DOID_0051087 developmental and epileptic encephalopathy 115 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_material_basis_in homozygous or compound heterozygous mutation in the SNF8 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_10547 pyloric antrum cancer http://purl.obolibrary.org/obo/DOID_10544 pylorus cancer http://purl.obolibrary.org/obo/DOID_0081421 familial focal epilepsy with variable foci 1 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_0051088 developmental and epileptic encephalopathy 119 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by global developmental delay, impaired intellectual development, microcephaly, autistic behavior, and seizures and that has_material_basis_in heterozygous mutation in the RNU2-2 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_12678 hypercalcemia http://purl.obolibrary.org/obo/DOID_10575 calcium metabolism disease http://purl.obolibrary.org/obo/DOID_0060976 polycystic liver disease 3 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14. http://purl.obolibrary.org/obo/DOID_0051089 developmental and epileptic encephalopathy 120 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_12972 intrapelvic lymph node leukemic reticuloendotheliosis http://purl.obolibrary.org/obo/DOID_10619 lymph node cancer http://purl.obolibrary.org/obo/DOID_0051090 developmental and epileptic encephalopathy 121 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mutation in the LGI1 gene on chromosome 10q23. http://purl.obolibrary.org/obo/TRANS_0000015 biologic transmission http://purl.obolibrary.org/obo/TRANS_0000005 vector-borne transmission Biological transmission is an indirect vector-borne transmission process during which the pathogen is transported, from a reservoir, source or host to another host, within the vector and undergoes part of its lifecycle in the vector. http://purl.obolibrary.org/obo/DOID_1066 residual stage of open angle glaucoma http://purl.obolibrary.org/obo/DOID_1067 open-angle glaucoma http://purl.obolibrary.org/obo/DOID_0051091 developmental and epileptic encephalopathy 122 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that has_material_basis_in homozygous mutation in the MDGA2 gene on chromosome 14q21. http://purl.obolibrary.org/obo/SYMP_0000846 chest hyperemia http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom Hyperemia of the chest is a cardiovascular system symptom consisting of an excess of blood in the tissues of the chest as from an increased flow of blood due to vasodilation. http://purl.obolibrary.org/obo/DOID_13520 neonatal infective mastitis http://purl.obolibrary.org/obo/DOID_10690 mastitis http://purl.obolibrary.org/obo/DOID_0070704 dentin dysplasia type IA http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dentin dysplasia characterized by oligodontia, microdontia with very globular and malformed teeth and incisal notches, taurodontism of the molar teeth, and short roots that has_material_basis_in homozygous mutation in the SMOC2 gene on chromosome 6q27. http://purl.obolibrary.org/obo/DOID_11520 benign hypertensive renal disease http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/SYMP_0000715 skin desquamation http://purl.obolibrary.org/obo/SYMP_0020048 skin peeling A skin and integumentary tissue symptom that is characterized by the peeling off of skin in the form of scales. http://purl.obolibrary.org/obo/DOID_0070705 dentin dysplasia type IB http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dentin dysplasia characterized by teeth with crowns that have normal morphology and roots that are short, blunt, and malformed, resulting in tooth hypermobility and subsequent exfoliation of permanent dentition starting in the second decade that has_material_basis_in heterozygous mutation in the VPS4B gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_11664 nephrosclerosis http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/SYMP_0000424 claudication http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a leg pain in the calf, or thigh, which is caused by inadequate blood flow to the leg muscles and is brought on by leg exercise such as walking. http://purl.obolibrary.org/obo/SYMP_0000595 febrile convulsion http://purl.obolibrary.org/obo/SYMP_0000596 convulsion A convulsion that is characterized by occurring in young children between six months and five years of age and which is triggered by fever. http://purl.obolibrary.org/obo/DOID_0070706 dentin dysplasia type IC http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dentin dysplasia characterized by tooth crowns that are normal in morphology, form, and color and roots that are short, blunt, and malformed, resulting in severe tooth hypermobility starting in late childhood followed by spontaneous tooth loss around 20 years of age, that has_material_basis_in heterozygous mutation in the SSUH2 gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_13730 malignant renovascular hypertension http://purl.obolibrary.org/obo/DOID_13731 malignant secondary hypertension http://purl.obolibrary.org/obo/SYMP_0000605 coma http://purl.obolibrary.org/obo/SYMP_0000482 alteration of consciousness An alteration of consciousness that is characterized by a deep state of prolonged unconsciousness in which a person cannot be awakened, fails to respond normally to painful stimuli, light, or sound, lacks a normal wake-sleep cycle and does not initiate voluntary actions. http://purl.obolibrary.org/obo/DOID_0070707 dentin dysplasia type II http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dentin dysplasia characterized by primary teeth with discoloration and obliteration of the pulp chamber, and secondary teeth with normal coloration, pulps shaped like thistles or tubes, and ovoid pulp stones that has_material_basis_in heterozygous mutation in the DSPP gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_1591 renovascular hypertension http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/DOID_3021 acute kidney failure http://purl.obolibrary.org/obo/DOID_1074 kidney failure http://purl.obolibrary.org/obo/SYMP_0019151 pulmonary edema http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an abnormal accumulation of fluid in the lungs. http://purl.obolibrary.org/obo/DOID_0070708 dentin dysplasia with sclerotic bones http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by osteosclerosis of all long bones with heavy cortical bone and narrowed or occluded marrow spaces, and apparently pulpless teeth with radiolucent chevrons; short, blunted roots; and radiolucent apical area that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_11401 xanthogranulomatous pyelonephritis http://purl.obolibrary.org/obo/DOID_1076 chronic pyelonephritis http://purl.obolibrary.org/obo/SYMP_0019176 malaise http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by an indefinite feeling of debility or lack of health, often indicative of or accompanying the onset of an illness. http://purl.obolibrary.org/obo/DOID_0070709 Popov-Chang syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development with poor or absent speech that has_material_basis_in heterozygous mutation in the YWHAZ gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_11130 secondary hypertension http://purl.obolibrary.org/obo/DOID_10763 hypertension http://purl.obolibrary.org/obo/SYMP_0000822 chronic enteritis http://purl.obolibrary.org/obo/SYMP_0000039 enteritis Chronic enteritis is a enteritis with slow progress, long duration, or frequent recurrence which can be due to Crohn's disease, giardiasis, tuberculosis, coeliac disease, or rarely due to Whipple's disease. http://purl.obolibrary.org/obo/DOID_0070710 neurodevelopmental disorder with speech delay and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed motor, speech, and/or cognitive development beginning in infancy or early childhood and behavioral abnormalities that has_material_basis_in heterozygous mutation in the UBR5 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_10812 nasal cavity olfactory neuroblastoma http://purl.obolibrary.org/obo/DOID_369 olfactory neuroblastoma http://purl.obolibrary.org/obo/SYMP_0000361 progressive emaciation http://purl.obolibrary.org/obo/SYMP_0000360 emaciation An emaciation that is characterized by an increase in scope or severity with time. http://purl.obolibrary.org/obo/DOID_0070711 Harel-Tora neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking, variably impaired intellectual development with speech delay, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the ATXN7L3 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_10823 malignant essential hypertension http://purl.obolibrary.org/obo/DOID_10825 essential hypertension http://purl.obolibrary.org/obo/SYMP_0000560 polydipsia http://purl.obolibrary.org/obo/SYMP_0000473 nutrition, metabolism, and development symptom A nutrition, metabolism, and development symptom that is characterized by an excessive or abnormal thirst. http://purl.obolibrary.org/obo/DOID_0070712 developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by congenital anomalies that mainly affect the cardiac and/or renal systems, dysmorphic craniofacial features apparent from birth, and mild to moderate neurodevelopmental delay, usually with hypotonia, delayed walking, impaired intellectual development, and poor speech acquisition, that has_material_basis_in homozygous mutation in the PAN2 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_10913 benign essential hypertension http://purl.obolibrary.org/obo/DOID_10825 essential hypertension http://purl.obolibrary.org/obo/TRANS_0000019 arthropod borne transmission http://purl.obolibrary.org/obo/TRANS_0000005 vector-borne transmission Arthropod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary arthropod vector to another host. http://purl.obolibrary.org/obo/DOID_0070713 neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development, febrile seizures or epilepsy, facial dysmorphism, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KLHL20 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_12897 submandibular gland disease http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/SYMP_0000569 oliguria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the reduced excretion of urine. http://purl.obolibrary.org/obo/DOID_0070714 neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality characterized by ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size, and abnormal craniofacial and skeletal defects including bilateral clubfeet that has_material_basis_in homozygous mutation in the SNAPIN gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_12899 benign lymphoepithelial lesion of salivary gland http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/SYMP_0000367 proteinuria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom characterized by the presence of excess protein in the urine. http://purl.obolibrary.org/obo/DOID_0070715 Ramond-Elliott neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking or inability to walk, impaired intellectual development that is usually severe, and poor or absent speech that has_material_basis_in heterozygous mutation in the TRA2B gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_12901 necrotizing sialometaplasia http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_0060911 karyomegalic interstitial nephritis http://purl.obolibrary.org/obo/DOID_1063 interstitial nephritis An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. http://purl.obolibrary.org/obo/DOID_0070716 progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality characterized by severe to profound global developmental delay with inability to sit or walk independently, almost no cognitive development, poor visual fixation, and absent speech; progressive, severe microcephaly; and notable structural brain abnormalities apparent on brain imaging, including simplified gyral pattern, lissencephaly, partial or complete agenesis of the corpus callosum, enlarged ventricles, and cerebellar hypoplasia, that has_material_basis_in heterozygous mutation in the CRNKL1 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_12904 mucocele of salivary gland http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_0090100 ocular albinism with sensorineural deafness http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. http://purl.obolibrary.org/obo/DOID_0090101 lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_0070717 developmental delay with sleep apnea http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, central and/or obstructive sleep apnea, and feeding difficulties that has_material_basis_in heterozygous mutation in the KCNK3 gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_12905 sialolithiasis http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_0090102 autosomal dominant isolated macrothrombocytopenia 1 http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. http://purl.obolibrary.org/obo/DOID_0070718 neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by mild global developmental delay apparent from infancy, with mildly delayed walking and speech acquisition, mildly impaired intellectual development, behavioral abnormalities, and age-dependent, slowly progressive spastic paraplegia late in the first decade, resulting in gait abnormalities but not loss of ambulation, that has_material_basis_in homozygous mutation in the TBCB gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_10864 partial third-nerve palsy http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/DOID_0090103 Huntington's disease-like 1 http://purl.obolibrary.org/obo/DOID_649 prion disease A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_0070719 neurocardiorenal malformation syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder characterized by severe developmental delay associated with microcephaly, distinctive facial features, and multiorgan involvement including cardiac and renal malformations that has_material_basis_in homozygous or compound heterozygous mutation in the TM2D3 gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_10866 total third-nerve palsy http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/DOID_0090104 Huntington's disease-like 2 http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0070720 immune dysregulation, neurodevelopmental defects, and colitis http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder characterized by eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental issues that has_material_basis_in homozygous or compound heterozygous mutation in the ITGAV gene on chromosome 2q32. http://purl.obolibrary.org/obo/DOID_10869 fourth cranial nerve palsy http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/DOID_0090105 autosomal recessive hypercholesterolemia http://purl.obolibrary.org/obo/DOID_13810 familial hypercholesterolemia A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0070721 Valence-Farazi cerebellar ataxia syndrome http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by hypotonia, delayed motor development with mildly delayed walking, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging that has_material_basis_in homozygous mutation in the SKOR2 gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/DOID_1091 tooth disease http://purl.obolibrary.org/obo/DOID_0090106 BH4-deficient hyperphenylalaninemia A http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. http://purl.obolibrary.org/obo/DOID_0070722 adult-onset leukoencephalopathy without lacunae http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by a diffuse vascular leukoencephalopathy without lacunar infarct and a hippocampal type of memory defect with onset in the sixth to seventh decade that has_material_basis_in heterozygous mutation in the LAMB1 gene on chromosome 7q31. http://purl.obolibrary.org/obo/DOID_0070723 dyschromatosis, ichthyosis, deafness, and atopic disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by generalized hyperpigmentation with hypopigmented spots, ichthyosis, sensorineural hearing loss, atopic dermatitis, asthma, and allergic rhinitis that has_material_basis_in compound heterozygous mutation in the OSBPL2 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_11514 fissured tongue http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/DOID_0090107 autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/DOID_0090109 autosomal dominant hypocalcemia An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_0070724 dental radicular dysplasia http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease characterized by taurodontism, unseparated roots, long roots, tooth agenesis, torus palatinus, and torus mandibularis that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11. http://purl.obolibrary.org/obo/DOID_13333 hypertrophy of tongue papillae http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/DOID_0090108 autosomal dominant hypocalcemia 2 http://purl.obolibrary.org/obo/DOID_0090109 autosomal dominant hypocalcemia An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070725 spermatogenic failure 96 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to nonobstructive azoospermia with reduced numbers of spermatocytes and no spermatids seen in testicular tissue, resulting from apparent arrest of spermatogenesis at the zygotene stage, that has_material_basis_in homozygous mutation in the SPATA22 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_13500 hairy tongue http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/DOID_0090109 autosomal dominant hypocalcemia http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. http://purl.obolibrary.org/obo/DOID_0070726 spermatogenic failure 97 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella, and a reduced concentration of sperm that has_material_basis_in homozygous mutation in the NUP210L gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_1456 glossitis http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/DOID_0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_0070727 spermatogenic failure 98 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP54 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_8649 tongue cancer http://purl.obolibrary.org/obo/DOID_8618 oral cavity cancer http://purl.obolibrary.org/obo/DOID_0090111 PCWH syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0070728 spermatogenic failure 99 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced sperm progressive motility, sperm with a thin midpiece, absence of the annulus, and disorganization of the mitochondrial sheath that has_material_basis_in homozygous mutation in the SEPTIN4 gene (603696) on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_1063 interstitial nephritis http://purl.obolibrary.org/obo/DOID_10952 nephritis http://purl.obolibrary.org/obo/DOID_0090112 Nasu-Hakola disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0070729 spermatogenic failure 100 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia resulting from multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH12 gene on chromosome 3p14. http://purl.obolibrary.org/obo/DOID_10963 cholesteatoma of attic http://purl.obolibrary.org/obo/DOID_10964 cholesteatoma of middle ear http://purl.obolibrary.org/obo/DOID_0090113 RIDDLE syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_0070730 spermatogenic failure 101 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ATG4D gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_10971 acute salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_10972 salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_0090114 Sorsby's fundus dystrophy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_0070731 spermatogenic failure 102 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm in reduced concentration that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella that has_material_basis_in homozygous mutation in the CFAP206 gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_12265 chronic salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_10972 salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_0090115 spinocerebellar ataxia with axonal neuropathy 1 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. http://purl.obolibrary.org/obo/DOID_0070732 familial juvenile hyperuricemic nephropathy 3 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by high serum uric acid and chronic renal failure with autosomal dominant inheritance that has_material_basis_in linkage to a 5.5 Mb region on chromosome 2p22.1-p21 between SNPs rs372139 and rs896986. http://purl.obolibrary.org/obo/DOID_13942 acute gonococcal salpingitis http://purl.obolibrary.org/obo/DOID_10973 acute salpingitis http://purl.obolibrary.org/obo/DOID_0090116 spondylocarpotarsal synostosis syndrome http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. http://purl.obolibrary.org/obo/DOID_0070733 multiple mitochondrial dysfunctions syndrome 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems that has_material_basis_in homozygous or compound heterozygous mutation in the GCSH gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_10972 salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_10974 oophoritis http://purl.obolibrary.org/obo/DOID_0090117 thiamine-responsive megaloblastic anemia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. http://purl.obolibrary.org/obo/DOID_0070734 episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by childhood onset of progressive muscle weakness and exercise intolerance, with episodic exacerbation, that has_material_basis_in homozygous mutation in the FDX2 gene on chromosome 19p13. Additional more variable features include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. http://purl.obolibrary.org/obo/DOID_11364 lens subluxation http://purl.obolibrary.org/obo/DOID_110 lens disease http://purl.obolibrary.org/obo/DOID_0090118 congenital amegakaryocytic thrombocytopenia http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers. http://purl.obolibrary.org/obo/DOID_0070735 auditory neuropathy and optic atrophy http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease A multiple mitochondrial dysfunctions syndrome characterized by bilateral auditory neuropathy and optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_11031 bullous keratopathy http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/DOID_0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_0070736 multiple mitochondrial dysfunctions syndrome 9B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_11032 secondary corneal edema http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/DOID_0090120 hereditary neutrophilia http://purl.obolibrary.org/obo/DOID_9500 leukocyte disease A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0070737 multiple mitochondrial dysfunctions syndrome 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, respiratory insufficiency and central nervous symptoms, including learning difficulties and neurobehavioral comorbidities, that has_material_basis_in compound heterozygous mutation in the CIAO1 gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_11033 idiopathic corneal edema http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/DOID_0090122 aromatase excess syndrome http://purl.obolibrary.org/obo/DOID_15 reproductive system disease A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. http://purl.obolibrary.org/obo/DOID_11034 contact lens corneal edema http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/DOID_0070738 Al Kaissi syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability that has_material_basis_in homozygous mutation in the CDK10 gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0090123 aromatic L-amino acid decarboxylase deficiency http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. http://purl.obolibrary.org/obo/DOID_11593 bladder lateral wall cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_0070739 autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by severely delayed psychomotor development, severely impaired intellectual development, and involuntary movements, including stereotypic movements, spasticity, and dystonia that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0090124 neurogenic-type arthrogryposis multiplex congenita-2 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. http://purl.obolibrary.org/obo/DOID_11809 bladder neck cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_0070740 cerebellar atrophy, developmental delay, and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy, seizures, and severe developmental delay, including the inability to walk and speech limited to a few words only, that has_material_basis_in homozygous mutation in the KCNMA1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0090125 brain small vessel disease 1 http://purl.obolibrary.org/obo/DOID_0112313 brain small vessel disease A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_11811 urinary bladder posterior wall cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_0070741 cerebellar atrophy with seizures and variable developmental delay http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging, seizures, and variable developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0070742 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by combined immunodeficiency, megaloblastic anemia, and variable additional phenotypes including hyperhomocysteinemia, hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mildly impaired intellectual development, lymphopenia involving all subsets, and low T-cell receptor excision circles that has_material_basis_in compound heterozygous mutation in the MTHFD1 gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0090126 branched-chain keto acid dehydrogenase kinase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_11813 bladder trigone cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_0070743 congenital facial palsy with ptosis and velopharyngeal dysfunction http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable congenital nonprogressive bilateral facial palsy, velopharyngeal dysfunction, and ptosis, without limitation of ocular abduction, limb abnormalities, or impaired cognition that has_material_basis_in heterozygous mutation in the TUBB6 gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_11814 urinary bladder anterior wall cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_0070744 early childhood-onset progressive leukodystrophy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development progressing to complete lack of communication and purposeful movement that has_material_basis_in homozygous mutation in the ACER3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_11817 urachus cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_0090128 Carvajal syndrome http://purl.obolibrary.org/obo/DOID_0080551 Naxos disease A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. http://purl.obolibrary.org/obo/DOID_0070745 early-onset progressive encephalopathy with brain atrophy and spasticity http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by microcephaly, global developmental delay, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus that has_material_basis_in homozygous or compound heterozygous mutation in the TRAPPC12 gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_11820 bladder dome cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_0090129 carnitine palmitoyltransferase I deficiency http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0070746 HELIX syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia that has_material_basis_in homozygous mutation in the CLDN10 gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_1677 low implantation of placenta http://purl.obolibrary.org/obo/DOID_11060 placenta praevia http://purl.obolibrary.org/obo/DOID_0090130 cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. http://purl.obolibrary.org/obo/DOID_0070747 immunodeficiency, developmental delay, and hypohomocysteinemia http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia that has_material_basis_in heterozygous mutation in the NFE2L2 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_11282 solar retinopathy http://purl.obolibrary.org/obo/DOID_11086 chorioretinal scar http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations. http://purl.obolibrary.org/obo/DOID_0070748 joint laxity, short stature, and myopia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by joint laxity, short stature, and severe myopia with prominent eyes that has_material_basis_in homozygous mutation in the GZF1 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_11283 peripheral scars of retina http://purl.obolibrary.org/obo/DOID_11086 chorioretinal scar http://purl.obolibrary.org/obo/DOID_0090132 complex cortical dysplasia with other brain malformations 7 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. http://purl.obolibrary.org/obo/DOID_0070749 Mendez-Johnson immunoneurologic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by failure to thrive with poor overall growth and additional highly variable features including immune dysregulation and neurologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the RNU6ATAC gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_0090133 complex cortical dysplasia with other brain malformations 2 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23. http://purl.obolibrary.org/obo/DOID_0070750 mitochondrial myopathy and ataxia http://purl.obolibrary.org/obo/DOID_699 mitochondrial myopathy A mitochondrial DNA depletion syndrome characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MSTO1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_13143 benign secondary hypertension http://purl.obolibrary.org/obo/DOID_11130 secondary hypertension http://purl.obolibrary.org/obo/DOID_0090134 complex cortical dysplasia with other brain malformations 3 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12. http://purl.obolibrary.org/obo/DOID_0070751 mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the WARS2 gene on chromosome 1p12. http://purl.obolibrary.org/obo/DOID_13731 malignant secondary hypertension http://purl.obolibrary.org/obo/DOID_11130 secondary hypertension http://purl.obolibrary.org/obo/DOID_0090135 complex cortical dysplasia with other brain malformations 5 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. http://purl.obolibrary.org/obo/DOID_0070752 neonatal severe encephalopathy with lactic acidosis and brain abnormalities http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by onset at birth of progressive encephalopathy with little or no psychomotor development and brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities, associated with increased serum lactate that has_material_basis_in compound heterozygous mutation in the LIPT2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_11133 prostatic cyst http://purl.obolibrary.org/obo/DOID_11132 prostatic hypertrophy http://purl.obolibrary.org/obo/DOID_0090136 complex cortical dysplasia with other brain malformations 6 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0070753 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by severely delayed psychomotor development apparent from infancy including delayed and difficulty walking, intellectual disability, and absent speech; decreased cortical white matter often with other brain anomalies; and variable additional features including hip dysplasia, tapering fingers, and seizures that has_material_basis_in heterozygous mutation in the RAB11B gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13206 nodular prostate http://purl.obolibrary.org/obo/DOID_11132 prostatic hypertrophy http://purl.obolibrary.org/obo/DOID_0090137 complex cortical dysplasia with other brain malformations 1 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. http://purl.obolibrary.org/obo/DOID_0070754 neurodevelopmental disorder with microcephaly, ataxia, and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SARS1 gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_14152 spinal cord sarcoma http://purl.obolibrary.org/obo/DOID_5612 spinal cancer http://purl.obolibrary.org/obo/DOID_0090138 complex cortical dysplasia with other brain malformations 4 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0070755 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth; postnatal progressive microcephaly; and early-onset, frequent, and often intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the VARS1 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_11203 Angelucci's syndrome http://purl.obolibrary.org/obo/DOID_11204 allergic conjunctivitis http://purl.obolibrary.org/obo/DOID_0090139 cortisone reductase deficiency http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. http://purl.obolibrary.org/obo/DOID_0070756 neurodevelopmental disorder with variable motor and speech impairment http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DHX30 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_12537 hypermobility of coccyx http://purl.obolibrary.org/obo/DOID_1123 spondyloarthropathy http://purl.obolibrary.org/obo/DOID_0090140 cortisone reductase deficiency 2 http://purl.obolibrary.org/obo/DOID_0090139 cortisone reductase deficiency A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0070757 Pilarowski-Bjornsson syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed development, impaired intellectual development, speech apraxia, and mild dysmorphic features that has_material_basis_in heterozygous mutation in the CHD1 gene on chromosome 5q. http://purl.obolibrary.org/obo/DOID_6590 spondylitis http://purl.obolibrary.org/obo/DOID_1123 spondyloarthropathy http://purl.obolibrary.org/obo/DOID_0090141 cortisone reductase deficiency 1 http://purl.obolibrary.org/obo/DOID_0090139 cortisone reductase deficiency A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0070759 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle that has_material_basis_in homozygous mutation in the RRM1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_11246 DIC in newborn http://purl.obolibrary.org/obo/DOID_11247 disseminated intravascular coagulation http://purl.obolibrary.org/obo/DOID_0090142 cystathioninuria http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_0081463 recurrent respiratory papillomatosis http://purl.obolibrary.org/obo/DOID_2615 papilloma A respiratory system benign neoplasm that is characterized by recurrent wart-like growths on the surface of the larynx, trachea, or lungs, commonly caused by human papillomavirus types 6 and 11. http://purl.obolibrary.org/obo/DOID_1129 pituitary apoplexy http://purl.obolibrary.org/obo/DOID_1130 pituitary infarct http://purl.obolibrary.org/obo/DOID_0090143 brachyolmia-amelogenesis imperfecta syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. http://purl.obolibrary.org/obo/TRANS_0000025 copepod borne transmission http://purl.obolibrary.org/obo/TRANS_0000005 vector-borne transmission Copepod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary copepod vector to another host. http://purl.obolibrary.org/obo/DOID_13402 skin sarcoidosis http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/DOID_0090144 Donnai-Barrow syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. http://purl.obolibrary.org/obo/SYMP_0000429 bradypnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by abnormally slow breathing. http://purl.obolibrary.org/obo/DOID_13407 hypercalcemic sarcoidosis http://purl.obolibrary.org/obo/DOID_11335 sarcoidosis http://purl.obolibrary.org/obo/DOID_0090145 dopamine beta-hydroxylase deficiency http://purl.obolibrary.org/obo/DOID_863 nervous system disease An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. http://purl.obolibrary.org/obo/SYMP_0000646 synovitis http://purl.obolibrary.org/obo/SYMP_0000313 joint inflammation Synovitis is a joint inflammation characterized by an inflammation of a synovial membrane usually with pain and swelling of the joint. http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/DOID_11343 scleral disease http://purl.obolibrary.org/obo/DOID_0070005 Seckel syndrome 9 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0080184 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma http://purl.obolibrary.org/obo/DOID_4926 bronchiolo-alveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). http://purl.obolibrary.org/obo/DOID_13452 scleritis http://purl.obolibrary.org/obo/DOID_11343 scleral disease http://purl.obolibrary.org/obo/DOID_0070006 Seckel syndrome 6 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. http://purl.obolibrary.org/obo/DOID_0080185 mucinous bronchioloalveolar adenocarcinoma http://purl.obolibrary.org/obo/DOID_4926 bronchiolo-alveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. http://purl.obolibrary.org/obo/DOID_11354 stone in bladder diverticulum http://purl.obolibrary.org/obo/DOID_11353 bladder diverticulum http://purl.obolibrary.org/obo/DOID_0070007 Seckel syndrome 1 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_0080186 nonmucinous bronchioloalveolar adenocarcinoma http://purl.obolibrary.org/obo/DOID_4926 bronchiolo-alveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. http://purl.obolibrary.org/obo/DOID_12087 deep corneal vascularisation http://purl.obolibrary.org/obo/DOID_11382 corneal neovascularization http://purl.obolibrary.org/obo/DOID_0070008 Seckel syndrome 10 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_0080187 chronic neutrophilic leukemia http://purl.obolibrary.org/obo/DOID_1036 chronic leukemia A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. http://purl.obolibrary.org/obo/DOID_1138 spinal meningioma http://purl.obolibrary.org/obo/DOID_3565 meningioma http://purl.obolibrary.org/obo/DOID_0070009 Seckel syndrome 8 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. http://purl.obolibrary.org/obo/DOID_0080188 chronic myelomonocytic leukemia http://purl.obolibrary.org/obo/DOID_1036 chronic leukemia A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. http://purl.obolibrary.org/obo/DOID_1076 chronic pyelonephritis http://purl.obolibrary.org/obo/DOID_11400 pyelonephritis http://purl.obolibrary.org/obo/DOID_0070010 Seckel syndrome 4 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_0080189 malignant hemangioma http://purl.obolibrary.org/obo/DOID_175 vascular cancer A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen. http://purl.obolibrary.org/obo/DOID_1142 alternating exotropia http://purl.obolibrary.org/obo/DOID_1143 exotropia http://purl.obolibrary.org/obo/DOID_0070011 Seckel syndrome 7 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. http://purl.obolibrary.org/obo/DOID_0080190 malignant epithelioid hemangioendothelioma http://purl.obolibrary.org/obo/DOID_0080189 malignant hemangioma A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. http://purl.obolibrary.org/obo/DOID_11853 monocular exotropia http://purl.obolibrary.org/obo/DOID_1143 exotropia http://purl.obolibrary.org/obo/DOID_0070012 Seckel syndrome 5 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0080192 relapsed/refractory diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. http://purl.obolibrary.org/obo/DOID_11488 idiopathic peripheral autonomic neuropathy http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease http://purl.obolibrary.org/obo/DOID_0070013 Seckel syndrome 2 http://purl.obolibrary.org/obo/DOID_0050569 Seckel syndrome A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. http://purl.obolibrary.org/obo/DOID_0080199 colorectal carcinoma http://purl.obolibrary.org/obo/DOID_9256 colorectal cancer A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. http://purl.obolibrary.org/obo/DOID_11504 autonomic neuropathy http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease http://purl.obolibrary.org/obo/DOID_0070014 autosomal dominant dyskeratosis congenita 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. http://purl.obolibrary.org/obo/DOID_0070015 autosomal recessive dyskeratosis congenita 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_0080200 bilateral renal aplasia http://purl.obolibrary.org/obo/DOID_14766 renal agenesis A renal agenesis that is characterized by the absence of both kidneys at birth. http://purl.obolibrary.org/obo/DOID_3223 complex regional pain syndrome http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease http://purl.obolibrary.org/obo/DOID_0070016 autosomal dominant dyskeratosis congenita 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_0080201 Peters plus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. http://purl.obolibrary.org/obo/DOID_11503 diabetic autonomic neuropathy http://purl.obolibrary.org/obo/DOID_11504 autonomic neuropathy http://purl.obolibrary.org/obo/DOID_0070017 autosomal recessive dyskeratosis congenita 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. http://purl.obolibrary.org/obo/DOID_0080352 X-linked chondrodysplasia punctata 2 http://purl.obolibrary.org/obo/DOID_2581 chondrodysplasia punctata A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_12307 anterior corneal pigmentation http://purl.obolibrary.org/obo/DOID_11547 corneal deposit http://purl.obolibrary.org/obo/DOID_0070018 autosomal dominant dyskeratosis congenita 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_0080353 X-linked recessive hypophosphatemic rickets http://purl.obolibrary.org/obo/DOID_10609 rickets A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_13448 posterior corneal pigmentation http://purl.obolibrary.org/obo/DOID_11547 corneal deposit http://purl.obolibrary.org/obo/DOID_0070019 autosomal recessive dyskeratosis congenita 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/ECO_0007636 curator inference from database http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from authoritative resource based on information located in a queryable database and is optimized for computers. http://purl.obolibrary.org/obo/DOID_11914 gastroparesis http://purl.obolibrary.org/obo/DOID_1159 functional gastric disease http://purl.obolibrary.org/obo/DOID_0070020 autosomal dominant dyskeratosis congenita 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work where the reference is to an entry in a compendium that provides summarized information on a subject. http://purl.obolibrary.org/obo/DOID_8439 postgastrectomy syndrome http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_0070021 autosomal recessive dyskeratosis congenita 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/ECO_0007638 curator inference from Wikipedia http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia A type of curator inference from encyclopedia where the reference is to a Wikipedia article. http://purl.obolibrary.org/obo/DOID_11594 ring staphyloma http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/DOID_0070022 autosomal recessive dyskeratosis congenita 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/ECO_0007639 curator inference from Britannica http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia A type of curator inference from encyclopedia where the reference is to an Encyclopedia Britannica article. http://purl.obolibrary.org/obo/DOID_13787 localized anterior staphyloma http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/DOID_0070023 autosomal dominant dyskeratosis congenita 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. http://purl.obolibrary.org/obo/ECO_0007640 curator inference from MedlinePlus encyclopedia http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia A type of curator inference from encyclopedia in which the reference is to an article in the National Library of Medicine's MedLinePlus encyclopedia. http://purl.obolibrary.org/obo/DOID_13788 equatorial staphyloma http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/DOID_0070024 autosomal recessive dyskeratosis congenita 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work in which the entry comes from a collection of words with definitions, usages, pronounciations, and more. http://purl.obolibrary.org/obo/DOID_13789 staphyloma posticum http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/ECO_0007642 curator inference from Oxford Dictionary http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary A type of curator inference from dictionary in which the reference is to an entry in the Oxford Dictionaries. http://purl.obolibrary.org/obo/DOID_0070025 X-linked dyskeratosis congenita http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_12246 histoplasmosis meningitis http://purl.obolibrary.org/obo/DOID_11608 fungal meningitis http://purl.obolibrary.org/obo/ECO_0007643 curator inference from Merriam-Webster Dictionary http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary A type of curator inference from dictionary in which the reference is to an entry in the Merriam-Webster Dictionary. http://purl.obolibrary.org/obo/DOID_0070026 Revesz syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_11839 glans penis cancer http://purl.obolibrary.org/obo/DOID_11615 penile cancer http://purl.obolibrary.org/obo/ECO_0007644 curator inference from MedlinePlus dictionary http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary A type of curator inference from dictionary in which the reference is to an entry in the National Library of Medicine's MedLinePlus dictionary. http://purl.obolibrary.org/obo/DOID_0070027 CST3-related cerebral amyloid angiopathy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. http://purl.obolibrary.org/obo/DOID_11988 conjunctival concretion http://purl.obolibrary.org/obo/DOID_11653 conjunctival deposit http://purl.obolibrary.org/obo/ECO_0007645 curator inference from journal publication http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work reporting on research findings. http://purl.obolibrary.org/obo/DOID_0070028 APP-related cerebral amyloid angiopathy http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. http://purl.obolibrary.org/obo/DOID_1171 hyperlipoproteinemia type V http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia http://purl.obolibrary.org/obo/ECO_0007646 curator inference from book http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work based on a book, which may be a reference to a URL (for ebooks) or a DOI. http://purl.obolibrary.org/obo/DOID_0070029 ITM2B-related cerebral amyloid angiopathy 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_1172 hyperlipoproteinemia type IV http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source http://purl.obolibrary.org/obo/ECO_0000000 evidence A type of curator inference that is from what is generally considered an authoritative source on the topic, including model organism databases, newspaper articles, books, journal publications, etc. http://purl.obolibrary.org/obo/DOID_0070030 ITM2B-related cerebral amyloid angiopathy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. http://purl.obolibrary.org/obo/DOID_13809 familial combined hyperlipidemia http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. http://purl.obolibrary.org/obo/DOID_0070031 autosomal dominant intellectual developmental disorder 1 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. http://purl.obolibrary.org/obo/DOID_14535 malignant cardiac germ cell tumor http://purl.obolibrary.org/obo/DOID_117 heart cancer http://purl.obolibrary.org/obo/DOID_0080614 oculocutaneous albinism type VI http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. http://purl.obolibrary.org/obo/DOID_0070032 autosomal dominant intellectual developmental disorder 2 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_11781 regular astigmatism http://purl.obolibrary.org/obo/DOID_11782 astigmatism http://purl.obolibrary.org/obo/DOID_0112102 Sotos syndrome 2 http://purl.obolibrary.org/obo/DOID_14748 Sotos syndrome A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070033 autosomal dominant intellectual developmental disorder 3 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. http://purl.obolibrary.org/obo/DOID_13919 irregular astigmatism http://purl.obolibrary.org/obo/DOID_11782 astigmatism http://purl.obolibrary.org/obo/DOID_0112103 Sotos syndrome 1 http://purl.obolibrary.org/obo/DOID_14748 Sotos syndrome A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. http://purl.obolibrary.org/obo/DOID_0070034 autosomal dominant intellectual developmental disorder 4 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. http://purl.obolibrary.org/obo/DOID_11829 degenerative myopia http://purl.obolibrary.org/obo/DOID_11830 myopia http://purl.obolibrary.org/obo/DOID_0112104 Sotos syndrome 3 http://purl.obolibrary.org/obo/DOID_14748 Sotos syndrome A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_0070035 autosomal dominant intellectual developmental disorder 5 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. http://purl.obolibrary.org/obo/DOID_0112105 X-linked parkinsonism-spasticity syndrome http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_0070036 autosomal dominant intellectual developmental disorder 6 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. http://purl.obolibrary.org/obo/DOID_0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia http://purl.obolibrary.org/obo/DOID_0080352 X-linked chondrodysplasia punctata 2 A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0070037 autosomal dominant intellectual developmental disorder 7 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. http://purl.obolibrary.org/obo/DOID_0112107 McLeod syndrome http://purl.obolibrary.org/obo/DOID_0050765 neuroacanthocytosis A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. http://purl.obolibrary.org/obo/DOID_0070038 autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_0112108 myofibrillar myopathy 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. http://purl.obolibrary.org/obo/DOID_10966 lipoid nephrosis http://purl.obolibrary.org/obo/DOID_1184 nephrotic syndrome http://purl.obolibrary.org/obo/DOID_0070039 NESCAV syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. http://purl.obolibrary.org/obo/DOID_0112109 spermatogenic failure 44 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1. http://purl.obolibrary.org/obo/DOID_12526 tarsal tunnel syndrome http://purl.obolibrary.org/obo/DOID_1187 tibial neuropathy http://purl.obolibrary.org/obo/DOID_0112110 combined oxidative phosphorylation deficiency 49 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_0070040 autosomal dominant intellectual developmental disorder 10 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. http://purl.obolibrary.org/obo/DOID_1187 tibial neuropathy http://purl.obolibrary.org/obo/DOID_1188 mononeuropathy http://purl.obolibrary.org/obo/DOID_0112111 combined oxidative phosphorylation deficiency 50 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/DOID_0070041 autosomal dominant intellectual developmental disorder 11 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. http://purl.obolibrary.org/obo/DOID_12171 radial neuropathy http://purl.obolibrary.org/obo/DOID_1188 mononeuropathy http://purl.obolibrary.org/obo/DOID_0112112 combined oxidative phosphorylation deficiency 48 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. http://purl.obolibrary.org/obo/DOID_0070042 Coffin-Siris syndrome 1 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. http://purl.obolibrary.org/obo/DOID_11888 schwannoma of ureter http://purl.obolibrary.org/obo/DOID_956 peripheral nerve schwannoma http://purl.obolibrary.org/obo/DOID_0112113 combined oxidative phosphorylation deficiency 45 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0070043 autosomal dominant intellectual developmental disorder 13 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. http://purl.obolibrary.org/obo/DOID_13147 fungal esophagitis http://purl.obolibrary.org/obo/DOID_1564 fungal infectious disease http://purl.obolibrary.org/obo/DOID_0112114 combined oxidative phosphorylation deficiency 47 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. http://purl.obolibrary.org/obo/DOID_0070044 Coffin-Siris syndrome 2 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. http://purl.obolibrary.org/obo/DOID_13976 peptic esophagitis http://purl.obolibrary.org/obo/DOID_11963 esophagitis http://purl.obolibrary.org/obo/DOID_0112115 combined oxidative phosphorylation deficiency 46 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0070045 Coffin-Siris syndrome 3 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. http://purl.obolibrary.org/obo/DOID_1742 drug psychosis http://purl.obolibrary.org/obo/DOID_1203 drug-induced mental disorder http://purl.obolibrary.org/obo/DOID_0112116 combined oxidative phosphorylation deficiency 43 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. http://purl.obolibrary.org/obo/DOID_12574 posterior uveitis http://purl.obolibrary.org/obo/DOID_12030 panuveitis http://purl.obolibrary.org/obo/DOID_0070046 Coffin-Siris syndrome 4 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_0112117 combined oxidative phosphorylation deficiency 40 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_1407 anterior uveitis http://purl.obolibrary.org/obo/DOID_12030 panuveitis http://purl.obolibrary.org/obo/DOID_0070047 Schuurs-Hoeijmakers Syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. http://purl.obolibrary.org/obo/DOID_0070048 GAND syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_0112118 combined oxidative phosphorylation deficiency 42 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_13329 toxic optic neuropathy http://purl.obolibrary.org/obo/DOID_1210 optic neuritis http://purl.obolibrary.org/obo/DOID_0070049 autosomal dominant intellectual developmental disorder 19 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. http://purl.obolibrary.org/obo/DOID_0112119 combined oxidative phosphorylation deficiency 41 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. http://purl.obolibrary.org/obo/DOID_14155 acute retrobulbar neuritis http://purl.obolibrary.org/obo/DOID_1210 optic neuritis http://purl.obolibrary.org/obo/DOID_0112120 SHOX-related short stature http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. http://purl.obolibrary.org/obo/DOID_0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. http://purl.obolibrary.org/obo/DOID_12162 pseudoretinitis pigmentosa http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_0112121 nephrogenic syndrome of inappropriate antidiuresis http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_12163 senile reticular retinal degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_0070051 autosomal dominant intellectual developmental disorder 21 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0112122 X-linked epilepsy with variable learning disabilities and behavior disorders http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. http://purl.obolibrary.org/obo/DOID_12164 Blessig's cysts http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_0070052 autosomal dominant intellectual developmental disorder 22 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. http://purl.obolibrary.org/obo/DOID_0112123 deafness, dystonia, and cerebral hypomyelination http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0112124 X-linked retinitis pigmentosa and sinorespiratory infections http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_0112125 alpha-thalassemia myelodysplasia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_12165 retinal lattice degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_0070053 autosomal dominant intellectual developmental disorder 23 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. http://purl.obolibrary.org/obo/DOID_12166 cobblestone retinal degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_0112126 Stocco Dos Santos type X-linked intellectual disability http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_0070054 Vulto-van Silfout-de Vries syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_12167 secondary vitreoretinal degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_0112127 HRPT-related hyperuricemia http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. http://purl.obolibrary.org/obo/DOID_0070055 Xia-Gibbs Syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. http://purl.obolibrary.org/obo/DOID_12170 radial nerve lesion http://purl.obolibrary.org/obo/DOID_12171 radial neuropathy http://purl.obolibrary.org/obo/DOID_12175 dyshormonogenic goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/DOID_0112128 X-linked severe congenital neutropenia http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0070056 autosomal dominant intellectual developmental disorder 26 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. http://purl.obolibrary.org/obo/DOID_13195 nontoxic goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/DOID_0112129 severe congenital neutropenia 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. http://purl.obolibrary.org/obo/DOID_0070057 Coffin-Siris syndrome 9 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. http://purl.obolibrary.org/obo/DOID_13196 lingual goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/DOID_0112130 autosomal dominant severe congenital neutropenia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. http://purl.obolibrary.org/obo/DOID_0070058 Helsmoortel-Van Der Aa Syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. http://purl.obolibrary.org/obo/DOID_13197 nodular goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/DOID_0112131 severe congenital neutropenia 2 http://purl.obolibrary.org/obo/DOID_0112130 autosomal dominant severe congenital neutropenia An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. http://purl.obolibrary.org/obo/DOID_0070059 autosomal dominant intellectual developmental disorder 29 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. http://purl.obolibrary.org/obo/DOID_13200 substernal goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/DOID_0112132 severe congenital neutropenia 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. http://purl.obolibrary.org/obo/DOID_0070060 autosomal dominant intellectual developmental disorder 30 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. http://purl.obolibrary.org/obo/DOID_12191 splenic flexure cancer http://purl.obolibrary.org/obo/DOID_12190 descending colon cancer http://purl.obolibrary.org/obo/DOID_0070061 autosomal dominant intellectual developmental disorder 31 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. http://purl.obolibrary.org/obo/DOID_0112133 severe congenital neutropenia 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_11245 transient neonatal neutropenia http://purl.obolibrary.org/obo/DOID_1227 neutropenia http://purl.obolibrary.org/obo/DOID_0070062 Arboleda-Tham syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_0112134 severe congenital neutropenia 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. http://purl.obolibrary.org/obo/DOID_12325 kyphoscoliotic heart disease http://purl.obolibrary.org/obo/DOID_12326 chronic pulmonary heart disease http://purl.obolibrary.org/obo/DOID_0070063 autosomal dominant intellectual developmental disorder 33 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. http://purl.obolibrary.org/obo/DOID_0112135 severe congenital neutropenia 8 http://purl.obolibrary.org/obo/DOID_0112130 autosomal dominant severe congenital neutropenia An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. http://purl.obolibrary.org/obo/DOID_14096 infertility due to extratesticular cause http://purl.obolibrary.org/obo/DOID_12336 male infertility http://purl.obolibrary.org/obo/DOID_0070064 autosomal dominant intellectual developmental disorder 34 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. http://purl.obolibrary.org/obo/DOID_0112136 severe congenital neutropenia 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_1233 transvestism http://purl.obolibrary.org/obo/DOID_1235 fetishism http://purl.obolibrary.org/obo/DOID_0070065 autosomal dominant intellectual developmental disorder 35 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. http://purl.obolibrary.org/obo/DOID_0112137 combined oxidative phosphorylation deficiency 51 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. http://purl.obolibrary.org/obo/DOID_12362 thyrotoxic exophthalmos http://purl.obolibrary.org/obo/DOID_12359 endocrine exophthalmos http://purl.obolibrary.org/obo/DOID_0070066 autosomal dominant intellectual developmental disorder 36 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. http://purl.obolibrary.org/obo/DOID_0112138 primary coenzyme Q10 deficiency 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_11164 band keratopathy http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_0070067 White-Sutton syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_0112139 nuclear type mitochondrial complex I deficiency 35 http://purl.obolibrary.org/obo/DOID_0060536 mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_11267 keratomalacia http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_0070068 autosomal dominant intellectual developmental disorder 38 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. http://purl.obolibrary.org/obo/DOID_0112140 retinitis pigmentosa 83 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. http://purl.obolibrary.org/obo/DOID_11342 arcus senilis http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_0070069 autosomal dominant intellectual developmental disorder 39 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. http://purl.obolibrary.org/obo/DOID_11541 recurrent corneal erosion http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_0070070 autosomal dominant intellectual developmental disorder 40 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_11793 phthisical cornea http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_0112141 retinitis pigmentosa 84 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. http://purl.obolibrary.org/obo/DOID_0070071 autosomal dominant intellectual developmental disorder 41 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. http://purl.obolibrary.org/obo/DOID_14507 peripheral degeneration of cornea http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_0112142 retinitis pigmentosa 85 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. http://purl.obolibrary.org/obo/DOID_0070072 autosomal dominant intellectual developmental disorder 42 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_12395 spastic entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/DOID_0112143 retinitis pigmentosa 86 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0112144 retinitis pigmentosa 87 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. http://purl.obolibrary.org/obo/DOID_0070073 autosomal dominant intellectual developmental disorder 43 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. http://purl.obolibrary.org/obo/DOID_12836 senile entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/DOID_0112145 retinitis pigmentosa 88 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. http://purl.obolibrary.org/obo/DOID_0070074 autosomal dominant intellectual developmental disorder 44 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. http://purl.obolibrary.org/obo/DOID_13112 mechanical entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/DOID_0112146 retinitis pigmentosa 89 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. http://purl.obolibrary.org/obo/DOID_0070077 schizophrenia 1 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35. http://purl.obolibrary.org/obo/DOID_13113 cicatricial entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/DOID_0112147 retinitis pigmentosa 90 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. http://purl.obolibrary.org/obo/DOID_0070078 schizophrenia 2 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. http://purl.obolibrary.org/obo/DOID_1241 luxation of globe http://purl.obolibrary.org/obo/DOID_1242 globe disease http://purl.obolibrary.org/obo/DOID_0112148 Uruguay faciocardiomusculoskeletal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. http://purl.obolibrary.org/obo/DOID_0070079 schizophrenia 3 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23. http://purl.obolibrary.org/obo/DOID_0070080 schizophrenia 4 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_14070 vestibular nystagmus http://purl.obolibrary.org/obo/DOID_1242 globe disease http://purl.obolibrary.org/obo/DOID_14199 posterior dislocation of lens http://purl.obolibrary.org/obo/DOID_1242 globe disease http://purl.obolibrary.org/obo/DOID_0112149 terminal osseous dysplasia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0070081 schizophrenia 5 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. http://purl.obolibrary.org/obo/DOID_12465 secondary hyperparathyroidism of renal origin http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_0112150 X-linked spondyloepimetaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0070082 schizophrenia 6 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_2213 hemorrhagic disease http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease http://purl.obolibrary.org/obo/DOID_0112151 corpus callosum agenesis-abnormal genitalia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. http://purl.obolibrary.org/obo/DOID_0070083 schizophrenia 7 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_11446 sciatic neuropathy http://purl.obolibrary.org/obo/DOID_12528 lesion of sciatic nerve http://purl.obolibrary.org/obo/DOID_0112152 CHIME syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_0070084 schizophrenia 8 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p. http://purl.obolibrary.org/obo/DOID_1829 urethral stricture http://purl.obolibrary.org/obo/DOID_12577 urethral obstruction http://purl.obolibrary.org/obo/DOID_0080903 embryonal tumor with multilayered rosettes, C19MC-altered http://purl.obolibrary.org/obo/DOID_0081286 embryonal tumor with multilayered rosettes An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. http://purl.obolibrary.org/obo/DOID_0070085 schizophrenia 9 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. http://purl.obolibrary.org/obo/DOID_14099 acquired gastric outlet stenosis http://purl.obolibrary.org/obo/DOID_12639 pyloric stenosis http://purl.obolibrary.org/obo/DOID_0112308 central precocious puberty http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. http://purl.obolibrary.org/obo/DOID_0070086 schizophrenia 10 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_12641 displacement of cardia through esophageal hiatus http://purl.obolibrary.org/obo/DOID_12642 hiatus hernia http://purl.obolibrary.org/obo/DOID_0112309 central precocious puberty 2 http://purl.obolibrary.org/obo/DOID_0112308 central precocious puberty A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. http://purl.obolibrary.org/obo/DOID_0070087 schizophrenia 11 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. http://purl.obolibrary.org/obo/DOID_12668 abnormal retinal correspondence http://purl.obolibrary.org/obo/DOID_12667 binocular vision disease http://purl.obolibrary.org/obo/DOID_0112310 central precocious puberty 1 http://purl.obolibrary.org/obo/DOID_0112308 central precocious puberty A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070088 schizophrenia 12 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. http://purl.obolibrary.org/obo/DOID_1278 tolosa-hunt syndrome http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/DOID_0081063 DICER1 syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. http://purl.obolibrary.org/obo/DOID_0070089 schizophrenia 13 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. http://purl.obolibrary.org/obo/DOID_539 ophthalmoplegia http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/DOID_0081064 BN2 diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. http://purl.obolibrary.org/obo/DOID_0070090 schizophrenia 14 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. http://purl.obolibrary.org/obo/DOID_9650 pathologic nystagmus http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/DOID_0081065 EZB diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. http://purl.obolibrary.org/obo/DOID_0070091 schizophrenia 15 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. http://purl.obolibrary.org/obo/DOID_0070092 schizophrenia 16 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. http://purl.obolibrary.org/obo/DOID_13662 ulcer of anus and rectum http://purl.obolibrary.org/obo/DOID_1285 rectal disease http://purl.obolibrary.org/obo/DOID_0081066 MCD diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. http://purl.obolibrary.org/obo/DOID_0070093 schizophrenia 18 http://purl.obolibrary.org/obo/DOID_5419 schizophrenia A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. http://purl.obolibrary.org/obo/DOID_14483 chorea gravidarum http://purl.obolibrary.org/obo/DOID_12859 choreatic disease http://purl.obolibrary.org/obo/DOID_0081067 N1 diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. http://purl.obolibrary.org/obo/DOID_0070094 oculocutaneous albinism type IA http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. http://purl.obolibrary.org/obo/DOID_12707 myoclonic cerebellar dyssynergia http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease http://purl.obolibrary.org/obo/DOID_0081333 Wiedemann-Rautenstrauch syndrome http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0070095 oculocutaneous albinism type IB http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. http://purl.obolibrary.org/obo/DOID_13548 secondary Parkinson disease http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease http://purl.obolibrary.org/obo/DOID_0070369 restrictive dermopathy 1 http://purl.obolibrary.org/obo/DOID_0060762 restrictive dermopathy A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0070096 oculocutaneous albinism type II http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. http://purl.obolibrary.org/obo/DOID_12958 paralytic lagophthalmos http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/DOID_0070421 neurodevelopmental disorder with spasticity and poor growth http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_0070097 oculocutaneous albinism type III http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. http://purl.obolibrary.org/obo/DOID_13037 mechanical lagophthalmos http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/DOID_0070644 hereditary spastic paraplegia 92 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0070098 oculocutaneous albinism type IV http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. http://purl.obolibrary.org/obo/DOID_13038 cicatricial lagophthalmos http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/DOID_0061154 Mulvihill-Smith syndrome http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome A progeroid syndrome that is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and impaired intellectual development. http://purl.obolibrary.org/obo/DOID_0070099 oculocutaneous albinism type V http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_1227 neutropenia http://purl.obolibrary.org/obo/DOID_12987 agranulocytosis http://purl.obolibrary.org/obo/DOID_0051100 hydroxyprolinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by elevated hydroxyproline levels, caused by a deficiency of the hydroxyproline oxidase enzyme resulting in deficient degradation of hydroxyproline, and that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase-2 (PRODH2) gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070100 oculocutaneous albinism type VII http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. http://purl.obolibrary.org/obo/DOID_13139 crescentic glomerulonephritis http://purl.obolibrary.org/obo/DOID_13138 acute proliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_0051101 retinitis pigmentosa 108 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is characterized by onset of symptoms later in life (fourth to fifth decades) and that has_material_basis_in homozygous or compound heterozygous mutation in the SAXO6 gene on chromosome 12q15. Most affected individuals experience photophobia and reduced visual acuity, and funduscopy shows the typical changes of RP, with optic disc pallor, retinal vessel attenuation, and bone-spicule pigmentary changes in the midperiphery. http://purl.obolibrary.org/obo/DOID_0070111 Niemann-Pick disease type A http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. http://purl.obolibrary.org/obo/DOID_12732 intermediate uveitis http://purl.obolibrary.org/obo/DOID_13141 uveitis http://purl.obolibrary.org/obo/DOID_0051102 acrofrontofacionasal dysostosis http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis that is characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. http://purl.obolibrary.org/obo/DOID_0070112 Niemann-Pick disease type B http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. http://purl.obolibrary.org/obo/DOID_13239 internal pathological resorption http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/DOID_0051103 acrofrontofacionasal dysostosis 2 http://purl.obolibrary.org/obo/DOID_0051102 acrofrontofacionasal dysostosis An acrofrontofacionasal dysostosis with genitourinary anomalies. http://purl.obolibrary.org/obo/DOID_0070113 Niemann-Pick disease type C1 http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. http://purl.obolibrary.org/obo/DOID_14529 external pathological resorption http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/DOID_0051104 acrofrontofacionasal dysostosis 3 http://purl.obolibrary.org/obo/DOID_0051102 acrofrontofacionasal dysostosis An acrofrontofacionasal dysostosis that is characterized by multiple congenital anomalies and severely impaired psychomotor development and that has_material_basis_in mutation in the NBAS gene on chromosome 2p24. http://purl.obolibrary.org/obo/DOID_0070114 Niemann-Pick disease type C2 http://purl.obolibrary.org/obo/DOID_14504 Niemann-Pick disease A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_14550 root resorption http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/DOID_0070784 hormone receptor-positive breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by the presence of at least one of the estrogen or progesterone receptors. http://purl.obolibrary.org/obo/DOID_0070115 Meckel syndrome 1 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_13271 cutaneous porphyria http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/DOID_0070785 hormone receptor-negative breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by the absence of hormone receptors. http://purl.obolibrary.org/obo/DOID_0070116 Meckel syndrome 2 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. http://purl.obolibrary.org/obo/DOID_13909 red-green color blindness http://purl.obolibrary.org/obo/DOID_13399 color blindness http://purl.obolibrary.org/obo/DOID_0070783 idiopathic generalized epilepsy 20 http://purl.obolibrary.org/obo/DOID_1827 generalized epilepsy A generalized epilepsy characterized by partial epilepsy, with onset usually early in the first decade of life, that evolves to include complex partial seizures and secondary generalized tonic-clonic seizures associated with focal, and sometimes diffuse, EEG abnormalities that has_material_basis_in compound heterozygous mutation in the ZFHX3 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_0070117 Meckel syndrome 3 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_13910 red color blindness http://purl.obolibrary.org/obo/DOID_13399 color blindness http://purl.obolibrary.org/obo/DOID_0070786 triple positive breast cancer http://purl.obolibrary.org/obo/DOID_0070779 hormone receptor-positive/HER2-positive breast cancer A hormone receptor-positive/HER2-positive breast cancer characterized by excess HER2 (ERBB2) protein and the presence of both estrogen and progesterone receptors. http://purl.obolibrary.org/obo/DOID_0070118 Meckel syndrome 4 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. http://purl.obolibrary.org/obo/DOID_13912 acquired color blindness http://purl.obolibrary.org/obo/DOID_13399 color blindness http://purl.obolibrary.org/obo/DOID_0070787 Alsahan-Harris syndrome http://purl.obolibrary.org/obo/DOID_0060340 ciliopathy A ciliopathy characterized by severe brain defects, including holoprosencephaly and anencephaly, ocular defects including microphthalmia/anophthalmia and cyclopia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_0070119 Meckel syndrome 5 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. http://purl.obolibrary.org/obo/DOID_12055 sarcoid meningitis http://purl.obolibrary.org/obo/DOID_13403 neurosarcoidosis http://purl.obolibrary.org/obo/DOID_0070788 autosomal dominant adult-onset leukodystrophy without amyloid angiopathy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by adult onset of variable neurologic symptoms, including recurrent hemiplegic migraine associated with transient focal deficits, progressive motor abnormalities, and cognitive decline; brain imaging changes involving the deep cerebral white matter, posterior limb of the internal capsule, middle cerebellar peduncles, cerebral peduncles, and globus pallidus; micro- to macrocystic degeneration and cystatin C aggregates in the neuropil; and decreased cystatin C levels in serum and cerebrospinal fluid that has_material_basis_in heterozygous mutation in the CST3 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_0070120 Meckel syndrome 6 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. http://purl.obolibrary.org/obo/DOID_12550 hepatic coma http://purl.obolibrary.org/obo/DOID_13413 hepatic encephalopathy http://purl.obolibrary.org/obo/DOID_0070789 cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset lens cataract, generalized nonscarring alopecia, oral mucosal disorder, and severe psoriasiform skin lesions affecting the scalp, facial, inguinal region, buttocks and lower extremities that has_material_basis_in compound heterozygous mutation in the MBTPS1 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0070121 Meckel syndrome 7 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. http://purl.obolibrary.org/obo/DOID_13676 posterior scleritis http://purl.obolibrary.org/obo/DOID_13452 scleritis http://purl.obolibrary.org/obo/DOID_0070790 congenital nonprogressive movement disorder with ataxia and eye movement abnormalities http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by infantile hypotonia, delayed walking with an ataxic or unsteady gait, speech articulation difficulties, and ptosis, strabismus, or gaze palsies that has_material_basis_in heterozygous mutation in the ESRRG gene on chromosome 1q41. http://purl.obolibrary.org/obo/DOID_0070122 Meckel syndrome 8 http://purl.obolibrary.org/obo/DOID_0050778 Meckel syndrome A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_13794 anterior scleritis http://purl.obolibrary.org/obo/DOID_13452 scleritis http://purl.obolibrary.org/obo/DOID_0070791 craniofaciocardiohepatic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by orofacial clefting, congenital heart disease, tall stature with variable dysmorphic features, gastrointestinal involvement, and developmental delay that has_material_basis_in heterozygous mutation in the AMOTL1 gene on chromosome 11q21. http://purl.obolibrary.org/obo/DOID_0070123 congenital nongoitrous hypothyroidism 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_1358 maxillary sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_0070792 Dursun-Ozgul neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by varying degrees of developmental disability, epilepsy, and movement disorders that has_material_basis_in homozygous mutation in the ELFN1 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_0070124 congenital nongoitrous hypothyroidism 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_1361 frontal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_0070793 FICUS syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by dysmorphic facial features, impaired intellectual development, and multisystem features including cardiovascular, urogenital, skeletal, gastrointestinal, and ophthalmologic abnormalities that has_material_basis_in homozygous mutation in the LSM1 gene on chromosome 8p11. http://purl.obolibrary.org/obo/DOID_0070125 congenital nongoitrous hypothyroidism 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_1364 ethmoidal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_0070794 Guillouet-Gordon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by intellectual disability, speech delay, and/or motor delay of variable severity associated with variable combinations of craniofacial defects, anomalies of the extremities, and heart defects that has_material_basis_in homozygous or compound heterozygous mutation in the MED16 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070126 congenital nongoitrous hypothyroidism 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_12466 secondary hyperparathyroidism http://purl.obolibrary.org/obo/DOID_13543 hyperparathyroidism http://purl.obolibrary.org/obo/DOID_0070795 hyposulfatemia with skeletal dysplasia http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by reduced plasma sulfate levels, increased urinary sulfate excretion, and skeletal dysplasia, including proportionate short stature, epiphyseal abnormalities and metaphyseal flaring, and vertebral irregularities with kyphosis, lordosis, or scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A gene on chromosome 7q31. http://purl.obolibrary.org/obo/DOID_0070127 congenital nongoitrous hypothyroidism 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. http://purl.obolibrary.org/obo/DOID_13575 non-renal secondary hyperparathyroidism http://purl.obolibrary.org/obo/DOID_13543 hyperparathyroidism http://purl.obolibrary.org/obo/DOID_0070796 ICHAD syndrome http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease characterized by onset of immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay soon after birth or in early infancy that has_material_basis_in heterozygous gain-of-function mutation in the IKZF2 gene on chromosome 2q34. Affected individuals have recurrent, mainly respiratory, infections and may have autoimmune features. http://purl.obolibrary.org/obo/DOID_0070128 congenital nongoitrous hypothyroidism 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. http://purl.obolibrary.org/obo/DOID_14332 postencephalitic Parkinson disease http://purl.obolibrary.org/obo/DOID_13548 secondary Parkinson disease http://purl.obolibrary.org/obo/DOID_0070797 immunodysregulation with variable immunodeficiency and autoimmunity http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease characterized by variable manifestations ranging from immunodeficiency, including recurrent respiratory infections and chronic fungal or viral infections often associated with lymphopenia and hypogammaglobulinemia, to features of a primary immune regulatory disorder, including autoimmunity, autoinflammation, lymphoproliferation, systemic lupus erythematosus, and EBV-associated hemophagocytic lymphohistiocytosis, that has_material_basis_in putative loss-of-function mutation in the IKZF2 gene on chromosome 2q34. http://purl.obolibrary.org/obo/DOID_0070129 autosomal recessive cutis laxa type IID http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_13756 epiphora due to insufficient drainage http://purl.obolibrary.org/obo/DOID_13757 excessive tearing http://purl.obolibrary.org/obo/DOID_0081464 isolated glycolic aciduria http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is characterized by markedly elevated urinary and plasma glycolate without further metabolic disease consequences and that has_material_basis_in homozygous mutation in the HAO1 gene on chromosome 20p12. http://purl.obolibrary.org/obo/DOID_0070130 autosomal dominant cutis laxa 1 http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. http://purl.obolibrary.org/obo/DOID_14244 epiphora due to excess lacrimation http://purl.obolibrary.org/obo/DOID_13757 excessive tearing http://purl.obolibrary.org/obo/DOID_0081465 neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, failure to thrive with poor overall growth, delayed walking or inability to walk, and severe to profoundly impaired intellectual development with absent or poor speech, and that has_material_basis_in homozygous mutation in the EIPR1 gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_0070131 autosomal dominant cutis laxa 3 http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_2664 sweat gland benign neoplasm http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_0081466 neurodevelopmental disorder with intellectual, visual, and language impairment http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by these cardinal features as well as motor delay, seizures, microcephaly, and dysmorphic features and that has_material_basis_in heterozygous mutation in the PIP5K1C gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070132 autosomal recessive cutis laxa type IIIA http://purl.obolibrary.org/obo/DOID_0070143 autosomal recessive cutis laxa type III A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_1391 Norum disease http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia http://purl.obolibrary.org/obo/DOID_0081467 autosomal dominant intellectual developmental disorder 78 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by neurodevelopmental abnormalities including intellectual disability, language and motor delays, autism spectrum disorder, and epilepsy or seizures and that has_material_basis_in heterozygous mutation in the INTS6 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_0070133 autosomal recessive cutis laxa type IB http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_10593 idiopathic progressive polyneuropathy http://purl.obolibrary.org/obo/DOID_1389 polyneuropathy http://purl.obolibrary.org/obo/DOID_0081468 autosomal dominant intellectual developmental disorder 76 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, mildly to severely impaired intellectual development with speech and language deficits, and autism and that has_material_basis_in heterozygous mutation in the MARK2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0070134 autosomal recessive cutis laxa type IIA http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_13649 polyneuropathy in collagen vascular disease http://purl.obolibrary.org/obo/DOID_1389 polyneuropathy http://purl.obolibrary.org/obo/DOID_0081469 autosomal dominant intellectual developmental disorder 77 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay that leads to mild to moderate intellectual disability and that has_material_basis_in heterozygous mutation in the LRRC7 gene on chromosome 1q31.1. http://purl.obolibrary.org/obo/DOID_0070135 autosomal recessive cutis laxa type IA http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_11975 coloboma of optic nerve http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/DOID_0081470 spermatogenic failure 103 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from meiotic arrest and that has_material_basis_in homozygous or compound heterozygous mutation in the MEI1 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0070136 autosomal dominant cutis laxa 2 http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_13295 crater-like holes of optic disc http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/SYMP_0000005 ataxia http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by an inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders. http://purl.obolibrary.org/obo/DOID_0070137 autosomal recessive cutis laxa type IIB http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/TRANS_0000009 airborne transmission http://purl.obolibrary.org/obo/TRANS_0000002 indirect transmission Airborne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host while suspended in the air as dust. http://purl.obolibrary.org/obo/DOID_1392 pseudopapilledema http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/DOID_0070138 autosomal recessive cutis laxa type IIIB http://purl.obolibrary.org/obo/DOID_0070143 autosomal recessive cutis laxa type III An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/ExO_0000013 acid rain http://purl.obolibrary.org/obo/ExO_0000007 ecological perturbation An ecological perturbation that is acidic water, usually pH 2.5 to 4.5, which poisons the ecosystem and adversely affects plants, fishes, and mammals. It is caused by industrial pollutants, mainly sulfur oxides and nitrogen oxides, emitted into the atmosphere and returning to earth in the form of acidic rain water. http://purl.obolibrary.org/obo/DOID_5691 visual cortex disease http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/DOID_0070139 autosomal recessive cutis laxa type IC http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. http://purl.obolibrary.org/obo/SYMP_0000534 spontaneous ecchymoses http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by the spontaneous escape of blood into the tissues from ruptured blood vessels marked by a livid black-and-blue or purple spot or area. http://purl.obolibrary.org/obo/DOID_10499 orbital granuloma http://purl.obolibrary.org/obo/DOID_1397 chronic orbital inflammation http://purl.obolibrary.org/obo/DOID_0070140 autosomal recessive cutis laxa type IIC http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. http://purl.obolibrary.org/obo/SYMP_0000164 incoordination http://purl.obolibrary.org/obo/SYMP_0000079 coordination symptom A coordination symptom that is characterized by a loss of complicated body movements, which may be caused by disease, injury, or toxins. http://purl.obolibrary.org/obo/DOID_11134 prolapse of lacrimal gland http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_0070141 autosomal recessive cutis laxa type II classic type http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. http://purl.obolibrary.org/obo/DOID_2442 paranasal sinus squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma A paranasal sinus cancer that derives_from squamous epithelial cells. http://purl.obolibrary.org/obo/DOID_13651 eversion of lacrimal punctum http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_0070142 autosomal dominant cutis laxa http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. http://purl.obolibrary.org/obo/DOID_0060903 thrombosis http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. http://purl.obolibrary.org/obo/DOID_13653 stenosis of lacrimal punctum http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_0070143 autosomal recessive cutis laxa type III http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. http://purl.obolibrary.org/obo/DOID_0110926 congenital myopathy 4B http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_13654 stenosis of lacrimal passage http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_0070144 autosomal recessive cutis laxa type I http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. http://purl.obolibrary.org/obo/DOID_0110927 nemaline myopathy 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_13655 acquired tear duct stenosis http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_0070145 hereditary sensory and autonomic neuropathy type 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_0110928 nemaline myopathy 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. http://purl.obolibrary.org/obo/DOID_13757 excessive tearing http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_0070146 congenital insensitivity to pain with anhidrosis http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_0110929 nemaline myopathy 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_13929 lacrimal duct obstruction http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_0070147 hereditary sensory neuropathy type 2C http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0110930 nemaline myopathy 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_1399 primary lacrimal atrophy http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_0070148 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux. http://purl.obolibrary.org/obo/DOID_0110931 nemaline myopathy 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. http://purl.obolibrary.org/obo/DOID_950 dacryoadenitis http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_0070149 hereditary sensory and autonomic neuropathy type 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. http://purl.obolibrary.org/obo/DOID_0110932 congenital myopathy 23 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_1404 residual stage angle-closure glaucoma http://purl.obolibrary.org/obo/DOID_1405 primary angle-closure glaucoma http://purl.obolibrary.org/obo/DOID_0070150 hereditary sensory and autonomic neuropathy type 2B http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the RETREG1 gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_0110933 nemaline myopathy 11 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. http://purl.obolibrary.org/obo/DOID_9383 iridocyclitis http://purl.obolibrary.org/obo/DOID_1407 anterior uveitis http://purl.obolibrary.org/obo/DOID_0070151 hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous or compound heterozygous in the DST gene on chromosome 6p12. http://purl.obolibrary.org/obo/DOID_0110934 nemaline myopathy 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_14145 malignant anus melanoma http://purl.obolibrary.org/obo/DOID_1909 melanoma http://purl.obolibrary.org/obo/DOID_0070152 hereditary sensory and autonomic neuropathy type 1A http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_11406 choroiditis http://purl.obolibrary.org/obo/DOID_1417 choroid disease http://purl.obolibrary.org/obo/DOID_0070153 hereditary sensory and autonomic neuropathy type 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0110935 nemaline myopathy 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. http://purl.obolibrary.org/obo/DOID_12759 choroid cancer http://purl.obolibrary.org/obo/DOID_3479 uveal cancer http://purl.obolibrary.org/obo/DOID_0070154 hereditary sensory neuropathy type 1F http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment that appears during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0110936 nemaline myopathy 5A http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. http://purl.obolibrary.org/obo/DOID_1415 gyrate atrophy http://purl.obolibrary.org/obo/DOID_1417 choroid disease http://purl.obolibrary.org/obo/DOID_0070155 hereditary sensory and autonomic neuropathy type 2A http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0110937 autosomal dominant osteopetrosis 1 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_11885 ureteral benign neoplasm http://purl.obolibrary.org/obo/DOID_731 urinary system benign neoplasm http://purl.obolibrary.org/obo/DOID_0110938 autosomal dominant osteopetrosis 2 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0070156 hereditary sensory neuropathy type 1D http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. http://purl.obolibrary.org/obo/DOID_1425 pyoureter http://purl.obolibrary.org/obo/DOID_1426 ureteral disease http://purl.obolibrary.org/obo/DOID_0110939 autosomal recessive osteopetrosis 5 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_0070157 hereditary sensory and autonomic neuropathy type 1C http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_13656 gastrin secretion abnormality http://purl.obolibrary.org/obo/DOID_1428 endocrine pancreas disease http://purl.obolibrary.org/obo/DOID_0110940 autosomal recessive osteopetrosis 8 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. http://purl.obolibrary.org/obo/DOID_0070158 hereditary sensory neuropathy type 1E http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_14427 abnormality of glucagon secretion http://purl.obolibrary.org/obo/DOID_1428 endocrine pancreas disease http://purl.obolibrary.org/obo/DOID_0110941 autosomal recessive osteopetrosis 3 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_0070159 X-linked hereditary sensory neuropathy http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A hereditary sensory and autonomic neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life without autonomic dysfunction. http://purl.obolibrary.org/obo/DOID_10742 cerebral lipidosis http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration http://purl.obolibrary.org/obo/DOID_0110942 autosomal recessive osteopetrosis 1 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0070160 atypical hereditary sensory neuropathy http://purl.obolibrary.org/obo/DOID_0050548 hereditary sensory and autonomic neuropathy A hereditary sensory and autonomic neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. http://purl.obolibrary.org/obo/DOID_14524 senile degeneration of brain http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration http://purl.obolibrary.org/obo/DOID_0110943 autosomal recessive osteopetrosis 2 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_0070161 hereditary sensory and autonomic neuropathy type 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy characterized by progressive, primarily distal reduced sensation to pain, temperature, and touch with congenital to juvenile onset, autosomal recessive inheritance, and variable, limited autonomic and muscular dysfunction. Loss of sensation commonly results in Charcot joints, unnoticed lacerations, acral mutilations, and osteomyelitis. http://purl.obolibrary.org/obo/DOID_14111 median rhomboid glossitis http://purl.obolibrary.org/obo/DOID_1456 glossitis http://purl.obolibrary.org/obo/DOID_0110944 autosomal recessive osteopetrosis 4 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0070162 hereditary sensory and autonomic neuropathy type 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary sensory and autonomic neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_1453 atrophic glossitis http://purl.obolibrary.org/obo/DOID_1456 glossitis http://purl.obolibrary.org/obo/DOID_0110945 autosomal recessive osteopetrosis 6 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_0080202 adenoid cystic carcinoma http://purl.obolibrary.org/obo/DOID_8858 tonsil cancer An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. http://purl.obolibrary.org/obo/DOID_11633 thyroid hormone resistance syndrome http://purl.obolibrary.org/obo/DOID_1459 hypothyroidism http://purl.obolibrary.org/obo/DOID_0110946 autosomal recessive osteopetrosis 7 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0080204 renal hypoplasia http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. http://purl.obolibrary.org/obo/DOID_11634 myxedema http://purl.obolibrary.org/obo/DOID_1459 hypothyroidism http://purl.obolibrary.org/obo/DOID_0110947 Waardenburg syndrome type 2B http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract http://purl.obolibrary.org/obo/DOID_557 kidney disease A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. http://purl.obolibrary.org/obo/DOID_1458 postsurgical hypothyroidism http://purl.obolibrary.org/obo/DOID_1459 hypothyroidism http://purl.obolibrary.org/obo/DOID_0110948 Waardenburg syndrome type 1 http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness; pigmentation anomalies of eyes, hair, and skin; and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_0080206 congenital anomalies of the kidney and urinary tract 1 http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_14555 Foster-Kennedy syndrome http://purl.obolibrary.org/obo/DOID_146 papilledema http://purl.obolibrary.org/obo/DOID_0110949 Waardenburg syndrome type 3 http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_0080207 congenital anomalies of the kidney and urinary tract 2 http://purl.obolibrary.org/obo/DOID_0080205 congenital anomalies of the kidney and urinary tract A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_14121 blue toe syndrome http://purl.obolibrary.org/obo/DOID_1461 cholesterol embolism http://purl.obolibrary.org/obo/DOID_0110950 Waardenburg syndrome type 2A http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. http://purl.obolibrary.org/obo/DOID_0080208 metabolic dysfunction-associated steatotic liver disease http://purl.obolibrary.org/obo/DOID_9452 steatotic liver disease A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. http://purl.obolibrary.org/obo/DOID_0110951 Waardenburg syndrome type 2C http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. http://purl.obolibrary.org/obo/DOID_1460 atheroembolism of kidney http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_0111139 mitochondrial complex III deficiency http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. http://purl.obolibrary.org/obo/DOID_0110953 Waardenburg syndrome type 4A http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. http://purl.obolibrary.org/obo/DOID_13943 acute gonococcal prostatitis http://purl.obolibrary.org/obo/DOID_14654 prostatitis http://purl.obolibrary.org/obo/DOID_0111140 IGSF1 deficiency syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0110954 Waardenburg syndrome type 4B http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_1134 gingival recession http://purl.obolibrary.org/obo/DOID_1483 gingival disease http://purl.obolibrary.org/obo/DOID_0111141 delayed sleep phase syndrome http://purl.obolibrary.org/obo/DOID_535 sleep disorder A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. http://purl.obolibrary.org/obo/DOID_0110955 Waardenburg syndrome type 4C http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_3086 gingival overgrowth http://purl.obolibrary.org/obo/DOID_1483 gingival disease http://purl.obolibrary.org/obo/DOID_0111142 oligomeganephronia http://purl.obolibrary.org/obo/DOID_0080204 renal hypoplasia A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons. http://purl.obolibrary.org/obo/DOID_0110956 Waardenburg syndrome type 2E http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_3087 gingivitis http://purl.obolibrary.org/obo/DOID_1483 gingival disease http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. http://purl.obolibrary.org/obo/DOID_0110957 Gaucher's disease type I http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_1525 nodular nonsuppurative panniculitis http://purl.obolibrary.org/obo/DOID_1526 panniculitis http://purl.obolibrary.org/obo/DOID_0111144 preterm premature rupture of the membranes http://purl.obolibrary.org/obo/DOID_229 female reproductive system disease A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. http://purl.obolibrary.org/obo/DOID_0110958 Gaucher's disease type II http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_11615 penile cancer http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_0111145 ureteropelvic junction obstruction http://purl.obolibrary.org/obo/DOID_5200 urinary tract obstruction A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter. http://purl.obolibrary.org/obo/DOID_0110959 Gaucher's disease type III http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_13031 balanoposthitis http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/DOID_0111146 acquired von Willebrand syndrome http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. http://purl.obolibrary.org/obo/DOID_0110960 Gaucher's disease perinatal lethal http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_13033 balanitis http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/DOID_0111147 angioimmunoblastic T-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050749 peripheral T-cell lymphoma A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. http://purl.obolibrary.org/obo/DOID_0110961 atypical Gaucher's disease due to saposin c deficiency http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/DOID_12782 cicatricial ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/DOID_0111148 isolated ectopia lentis http://purl.obolibrary.org/obo/DOID_110 lens disease A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. http://purl.obolibrary.org/obo/DOID_0110962 brachydactyly-preaxial hallux varus syndrome http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. http://purl.obolibrary.org/obo/DOID_13356 senile ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/DOID_0111149 autosomal recessive isolated ectopia lentis 2 http://purl.obolibrary.org/obo/DOID_0111148 isolated ectopia lentis An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0110963 Ballard syndrome http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. http://purl.obolibrary.org/obo/DOID_1569 mechanical ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/DOID_0111150 autosomal dominant isolated ectopia lentis 1 http://purl.obolibrary.org/obo/DOID_0111148 isolated ectopia lentis An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. http://purl.obolibrary.org/obo/DOID_1571 spastic ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/DOID_0111151 Prinzmetal angina http://purl.obolibrary.org/obo/DOID_11840 coronary artery vasospasm A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. http://purl.obolibrary.org/obo/DOID_0110965 brachydactyly type A2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. http://purl.obolibrary.org/obo/DOID_11126 acquired thrombocytopenia http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia http://purl.obolibrary.org/obo/DOID_0111152 multicentric Castleman disease http://purl.obolibrary.org/obo/DOID_0111157 Castleman disease A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. http://purl.obolibrary.org/obo/DOID_0110966 brachydactyly type A3 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. http://purl.obolibrary.org/obo/DOID_1587 thrombocytopenia due to platelet alloimmunization http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. http://purl.obolibrary.org/obo/DOID_0110967 brachydactyly type A4 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. http://purl.obolibrary.org/obo/DOID_10782 mesenteric lymphadenitis http://purl.obolibrary.org/obo/DOID_1602 lymphadenitis http://purl.obolibrary.org/obo/DOID_0111154 postural orthostatic tachycardia syndrome http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. http://purl.obolibrary.org/obo/DOID_0110968 brachydactyly type A6 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. http://purl.obolibrary.org/obo/DOID_13072 acquired hyperkeratosis http://purl.obolibrary.org/obo/DOID_161 keratosis http://purl.obolibrary.org/obo/DOID_0111155 autosomal recessive spinocerebellar ataxia 21 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0110969 brachydactyly type B1 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_6498 seborrheic keratosis http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_0111156 spermatogenic failure 9 http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. http://purl.obolibrary.org/obo/DOID_0110970 brachydactyly type C http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_12355 prostatocystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/DOID_0111157 Castleman disease http://purl.obolibrary.org/obo/DOID_0060704 lymphoproliferative syndrome A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. http://purl.obolibrary.org/obo/DOID_0110971 brachydactyly type D http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/DOID_13507 trigonitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/DOID_0111158 SADDAN http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0110972 brachydactyly type E1 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by shortening of the fingers, mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_13949 interstitial cystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/DOID_0111159 partial trisomy distal 4q http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. http://purl.obolibrary.org/obo/DOID_0110973 Mononen-Karnes-Senac syndrome http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by short, abducted thumbs and great toes. http://purl.obolibrary.org/obo/DOID_1680 chronic cystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/DOID_0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0110974 brachydactyly type A1B http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. http://purl.obolibrary.org/obo/DOID_13832 patent ductus arteriosus http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease http://purl.obolibrary.org/obo/DOID_0111161 Crouzon syndrome-acanthosis nigricans syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0110975 brachydactyly type B2 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_1681 heart septal defect http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease http://purl.obolibrary.org/obo/DOID_0111162 epidermal nevus http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. http://purl.obolibrary.org/obo/DOID_0110976 brachydactyly type E2 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. http://purl.obolibrary.org/obo/DOID_1726 partial of retinal vein occlusion http://purl.obolibrary.org/obo/DOID_1727 retinal vein occlusion http://purl.obolibrary.org/obo/DOID_0111163 molybdenum cofactor deficiency type B http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. http://purl.obolibrary.org/obo/DOID_0110977 brachydactyly type A1C http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_13514 venous tributary occlusion of retina http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/DOID_0111164 molybdenum cofactor deficiency type A http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0110978 brachydactyly type A1D http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_1727 retinal vein occlusion http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. http://purl.obolibrary.org/obo/DOID_0110979 Sugarman brachydactyly http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. http://purl.obolibrary.org/obo/DOID_8483 retinal artery occlusion http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/DOID_0111166 molybdenum cofactor deficiency type C http://purl.obolibrary.org/obo/DOID_0111165 molybdenum cofactor deficiency A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0110980 Joubert syndrome 1 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_12239 anal margin squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_4284 anal margin carcinoma http://purl.obolibrary.org/obo/DOID_0111167 Dyggve-Melchior-Clausen disease http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0110981 Joubert syndrome 10 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_13538 cornea squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_6199 cornea cancer http://purl.obolibrary.org/obo/DOID_0111168 sepiapterin reductase deficiency http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. http://purl.obolibrary.org/obo/DOID_0110982 Joubert syndrome 13 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_13865 facial neuralgia http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease http://purl.obolibrary.org/obo/DOID_0111169 subcortical band heterotopia http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. http://purl.obolibrary.org/obo/DOID_0110983 Joubert syndrome 14 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_13934 facial paralysis http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease http://purl.obolibrary.org/obo/DOID_0111170 autosomal dominant sensory ataxia 1 http://purl.obolibrary.org/obo/DOID_0050951 hereditary ataxia A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. http://purl.obolibrary.org/obo/DOID_0110984 Joubert syndrome 15 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. http://purl.obolibrary.org/obo/DOID_14075 geniculate ganglionitis http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease http://purl.obolibrary.org/obo/DOID_60007 cerebrovascular benign neoplasm http://purl.obolibrary.org/obo/DOID_0060091 cardiovascular organ benign neoplasm A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system. http://purl.obolibrary.org/obo/DOID_0110985 Joubert syndrome 16 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. http://purl.obolibrary.org/obo/DOID_2462 retinal vascular disease http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_60008 parathyroid gland benign neoplasm http://purl.obolibrary.org/obo/DOID_11201 parathyroid gland disease An endocrine organ benign neoplasm that is located_in some parathyroid gland. http://purl.obolibrary.org/obo/DOID_0110986 Joubert syndrome 17 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. http://purl.obolibrary.org/obo/DOID_11481 constrictive pericarditis http://purl.obolibrary.org/obo/DOID_1787 pericarditis http://purl.obolibrary.org/obo/DOID_60009 pituitary gland benign neoplasm http://purl.obolibrary.org/obo/DOID_53 pituitary gland disease A benign neoplasm located in the pituitary gland. http://purl.obolibrary.org/obo/DOID_0110987 Joubert syndrome 18 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_1375 neonatal urinary tract infectious disease http://purl.obolibrary.org/obo/DOID_18 urinary system disease http://purl.obolibrary.org/obo/DOID_1439 pyuria http://purl.obolibrary.org/obo/DOID_18 urinary system disease http://purl.obolibrary.org/obo/DOID_0080937 wild-type amyloidosis http://purl.obolibrary.org/obo/DOID_9120 amyloidosis An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. http://purl.obolibrary.org/obo/DOID_0110988 Joubert syndrome 2 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. http://purl.obolibrary.org/obo/DOID_5200 urinary tract obstruction http://purl.obolibrary.org/obo/DOID_18 urinary system disease http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome http://purl.obolibrary.org/obo/DOID_2962 Cockayne syndrome A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. http://purl.obolibrary.org/obo/DOID_0110989 Joubert syndrome 20 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_11832 visual epilepsy http://purl.obolibrary.org/obo/DOID_1826 epilepsy http://purl.obolibrary.org/obo/CHEBI_5631 heavy metal http://purl.obolibrary.org/obo/CHEBI_64909 poison Any metal that is characterized by its rather high atomic mass and density. Although typically occurring in low concentrations, they can be found all throughout the Earth's crust (Commonly, a density of at least 5 g cm(3) is used to define a heavy metal and to differentiate it from other, ''light'' metals). http://purl.obolibrary.org/obo/DOID_0110990 Joubert syndrome 21 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. http://purl.obolibrary.org/obo/DOID_13658 infective urethral stricture http://purl.obolibrary.org/obo/DOID_1829 urethral stricture http://purl.obolibrary.org/obo/DOID_0081002 Cowden syndrome 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. http://purl.obolibrary.org/obo/DOID_0110991 Joubert syndrome 22 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_13620 patent foramen ovale http://purl.obolibrary.org/obo/DOID_1882 atrial heart septal defect http://purl.obolibrary.org/obo/SYMP_0019188 intracranial hemorrhage http://purl.obolibrary.org/obo/SYMP_0000041 hemorrhage A hemorrhage that is characterized by any bleeding occurring within the skull. http://purl.obolibrary.org/obo/DOID_0110992 Joubert syndrome 23 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_12010 anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease http://purl.obolibrary.org/obo/SYMP_0019189 intracerebral hemorrhage http://purl.obolibrary.org/obo/SYMP_0000041 hemorrhage A hemorrhage that is characterized by bleeding within the brain tissue itself. http://purl.obolibrary.org/obo/DOID_0110993 Joubert syndrome 24 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_13561 optic disk drusen http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease http://purl.obolibrary.org/obo/SYMP_0019190 subdural hemorrhage http://purl.obolibrary.org/obo/SYMP_0000041 hemorrhage A hemorrhage that is characterized by bleeding that occurs within the skull of head but outside the actual brain tissue. http://purl.obolibrary.org/obo/DOID_0110994 Joubert syndrome 25 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_146 papilledema http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease http://purl.obolibrary.org/obo/SYMP_0020008 barking croup cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a tight, low-pitched, and barky (like a barking seal) cough. http://purl.obolibrary.org/obo/DOID_0110995 Joubert syndrome 26 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_13160 scrotum melanoma http://purl.obolibrary.org/obo/DOID_518 scrotum neoplasm http://purl.obolibrary.org/obo/DOID_0081365 Paget disease of bone 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0110996 Joubert syndrome 27 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. http://purl.obolibrary.org/obo/DOID_14151 spinal cord melanoma http://purl.obolibrary.org/obo/DOID_5612 spinal cancer http://purl.obolibrary.org/obo/DOID_0110997 Joubert syndrome 28 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_4359 amelanotic melanoma http://purl.obolibrary.org/obo/DOID_1909 melanoma http://purl.obolibrary.org/obo/DOID_0110998 Joubert syndrome 3 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. http://purl.obolibrary.org/obo/DOID_0070365 nevoid basal cell carcinoma syndrome 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_11383 cryptorchidism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development http://purl.obolibrary.org/obo/DOID_0110999 Joubert syndrome 4 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_0081356 spinal muscular atrophy, Jokela type http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_11613 hyperandrogenism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development http://purl.obolibrary.org/obo/DOID_0111000 Joubert syndrome 5 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. http://purl.obolibrary.org/obo/DOID_0081357 isolated mitochondrial myopathy http://purl.obolibrary.org/obo/DOID_699 mitochondrial myopathy A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_3765 pseudohermaphroditism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development http://purl.obolibrary.org/obo/DOID_0111001 Joubert syndrome 6 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_0081361 spastic quadriplegic cerebral palsy 3 http://purl.obolibrary.org/obo/DOID_10970 spastic quadriplegic cerebral palsy A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_10587 Krabbe disease http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis http://purl.obolibrary.org/obo/DOID_0111002 Joubert syndrome 7 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. http://purl.obolibrary.org/obo/DOID_11864 peripheral focal chorioretinitis http://purl.obolibrary.org/obo/DOID_1979 focal chorioretinitis http://purl.obolibrary.org/obo/DOID_0111003 Joubert syndrome 8 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. http://purl.obolibrary.org/obo/DOID_0081369 Paget disease of bone 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_10873 Kuhnt-Junius degeneration http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/DOID_0111004 Joubert syndrome 9 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_0070526 PLACK syndrome http://purl.obolibrary.org/obo/DOID_37 skin disease An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. http://purl.obolibrary.org/obo/DOID_13214 hole retinal cyst http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/DOID_0111005 cone-rod dystrophy 2 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. http://purl.obolibrary.org/obo/DOID_14245 cystoid macular retinal degeneration http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/DOID_0111006 X-linked cone-rod dystrophy 2 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. http://purl.obolibrary.org/obo/DOID_0070531 foveal hypoplasia 2 http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen. http://purl.obolibrary.org/obo/DOID_2569 retinal drusen http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/DOID_0111007 X-linked cone-rod dystrophy 3 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_0070520 peeling skin syndrome 1 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_13088 periventricular leukomalacia http://purl.obolibrary.org/obo/DOID_2034 encephalomalacia http://purl.obolibrary.org/obo/DOID_0111008 X-linked cone-rod dystrophy 1 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_0070518 familial multiple lipomatosis http://purl.obolibrary.org/obo/DOID_3153 lipomatosis A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_13566 tibial collateral ligament bursitis http://purl.obolibrary.org/obo/DOID_204 enthesopathy http://purl.obolibrary.org/obo/DOID_0111009 cone-rod dystrophy 1 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. http://purl.obolibrary.org/obo/DOID_0081414 TFEB-rearranged renal cell carcinoma http://purl.obolibrary.org/obo/DOID_0081413 renal cell carcinoma with MiT translocations A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. http://purl.obolibrary.org/obo/DOID_12084 transient arthropathy http://purl.obolibrary.org/obo/DOID_2092 transient arthritis http://purl.obolibrary.org/obo/DOID_0111010 cone-rod dystrophy 5 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations http://purl.obolibrary.org/obo/DOID_3098 small cell sarcoma A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. http://purl.obolibrary.org/obo/DOID_12661 tooth ankylosis http://purl.obolibrary.org/obo/DOID_227 ankylosis http://purl.obolibrary.org/obo/DOID_0111011 cone-rod dystrophy 6 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0081417 poorly differentiated chordoma http://purl.obolibrary.org/obo/DOID_3302 chordoma A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. http://purl.obolibrary.org/obo/DOID_12733 hypercementosis http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/DOID_0111012 cone-rod dystrophy 7 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13. http://purl.obolibrary.org/obo/DOID_0060941 interstitial lung disease 1 http://purl.obolibrary.org/obo/DOID_3082 interstitial lung disease An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/DOID_0111013 cone-rod dystrophy 3 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. http://purl.obolibrary.org/obo/DOID_0060945 amelogenesis imperfecta type 1K http://purl.obolibrary.org/obo/DOID_2187 amelogenesis imperfecta An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_2498 tooth erosion http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/DOID_0111014 cone-rod dystrophy 8 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. http://purl.obolibrary.org/obo/DOID_0081448 cone-rod dystrophy 22 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_10461 dentin caries http://purl.obolibrary.org/obo/DOID_216 dental caries http://purl.obolibrary.org/obo/DOID_0111015 Newfoundland cone-rod dystrophy http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_0060991 congenital disorder of deglycosylation http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. http://purl.obolibrary.org/obo/DOID_11736 odontoclasia http://purl.obolibrary.org/obo/DOID_216 dental caries http://purl.obolibrary.org/obo/DOID_0111016 cone-rod dystrophy 13 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/DOID_0060984 digenic dyskeratosis congenita http://purl.obolibrary.org/obo/DOID_2729 dyskeratosis congenita A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_14089 root caries http://purl.obolibrary.org/obo/DOID_216 dental caries http://purl.obolibrary.org/obo/DOID_0111017 cone-rod dystrophy 10 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0070607 autosomal dominant nonsyndromic deafness 90 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12. http://purl.obolibrary.org/obo/DOID_14683 Binder syndrome http://purl.obolibrary.org/obo/DOID_2163 nasal cavity disease http://purl.obolibrary.org/obo/DOID_0111018 cone-rod dystrophy 11 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in the PLCG2 gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_12190 descending colon cancer http://purl.obolibrary.org/obo/DOID_219 colon cancer http://purl.obolibrary.org/obo/DOID_0111019 cone-rod dystrophy 12 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_0061003 pancreatic agenesis 1 http://purl.obolibrary.org/obo/DOID_0050877 pancreatic agenesis A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_12192 sigmoid colon cancer http://purl.obolibrary.org/obo/DOID_219 colon cancer http://purl.obolibrary.org/obo/DOID_0111020 cone-rod dystrophy 9 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. http://purl.obolibrary.org/obo/TRANS_0000027 arachnid borne transmission http://purl.obolibrary.org/obo/TRANS_0000019 arthropod borne transmission Arachnid borne transmission is an arthropod vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary arthropod vector such as a tick to another host. http://purl.obolibrary.org/obo/DOID_3326 purpura http://purl.obolibrary.org/obo/DOID_2213 hemorrhagic disease http://purl.obolibrary.org/obo/DOID_0111021 cone-rod dystrophy 15 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. http://purl.obolibrary.org/obo/SYMP_0000829 neck pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by an unpleasant sensation localized in the neck that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual. http://purl.obolibrary.org/obo/FOODON_00001579 alcoholic beverage http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar. http://purl.obolibrary.org/obo/DOID_11125 qualitative platelet defect http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease http://purl.obolibrary.org/obo/DOID_0111022 cone-rod dystrophy 16 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_12382 complex partial epilepsy http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy http://purl.obolibrary.org/obo/SYMP_0000895 anaphylactic shock http://purl.obolibrary.org/obo/SYMP_0019138 immune system symptom An acute allergic reaction to an antigen to which the body has become hypersensitive. http://purl.obolibrary.org/obo/DOID_0111023 cone-rod dystrophy 17 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. http://purl.obolibrary.org/obo/DOID_12351 alcoholic hepatitis http://purl.obolibrary.org/obo/DOID_0070658 alcohol-associated liver disease http://purl.obolibrary.org/obo/SYMP_0000896 exophthalmos http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom An abnormal protrusion or displacement of an eye or other body part. http://purl.obolibrary.org/obo/DOID_0111024 cone-rod dystrophy 18 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_13003 vertebrobasilar insufficiency http://purl.obolibrary.org/obo/DOID_224 transient cerebral ischemia http://purl.obolibrary.org/obo/SYMP_0000897 ventricular bradycardia http://purl.obolibrary.org/obo/SYMP_0000231 bradycardia A bradycardia associated with the generation of impules in the ventricles when impules from the atria fail to reach them, characterized by an electrocardiogram showing a heart rate below 50 BPM and a broad QRS complex. http://purl.obolibrary.org/obo/DOID_0111025 cone-rod dystrophy 19 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_13002 subclavian steal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome http://purl.obolibrary.org/obo/SYMP_0000898 cardiac fibrillation http://purl.obolibrary.org/obo/SYMP_0000287 arrhythmia An arrhythmia characterized by rapid, irregular, and unsynchronized contraction of muscle fibers within the heart. http://purl.obolibrary.org/obo/DOID_0111026 cone-rod dystrophy 20 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. http://purl.obolibrary.org/obo/DOID_14283 primary hypertrophic osteoarthropathy http://purl.obolibrary.org/obo/DOID_225 syndrome http://purl.obolibrary.org/obo/SYMP_0000899 ventricular fibrillation http://purl.obolibrary.org/obo/SYMP_0000898 cardiac fibrillation A cardiac fibrillation associated with quivering of the lower chambers of the heart, preventing blood from being pumped and causing cardiac arrest. http://purl.obolibrary.org/obo/DOID_0111027 hemochromatosis type 2A http://purl.obolibrary.org/obo/DOID_0111034 hemochromatosis type 2 A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_13097 intracranial arteriosclerosis http://purl.obolibrary.org/obo/DOID_2349 arteriosclerosis http://purl.obolibrary.org/obo/DOID_0080501 GM1 gangliosidosis type 2 http://purl.obolibrary.org/obo/DOID_3322 GM1 gangliosidosis A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. http://purl.obolibrary.org/obo/DOID_0111028 hemochromatosis type 4 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. http://purl.obolibrary.org/obo/DOID_10657 colonic lymphangioma http://purl.obolibrary.org/obo/DOID_235 colonic benign neoplasm http://purl.obolibrary.org/obo/DOID_0080502 GM1 gangliosidosis type 1 http://purl.obolibrary.org/obo/DOID_3322 GM1 gangliosidosis A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. http://purl.obolibrary.org/obo/DOID_0111029 hemochromatosis type 1 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. http://purl.obolibrary.org/obo/DOID_11518 abnormal pupillary function http://purl.obolibrary.org/obo/DOID_238 pupil disease http://purl.obolibrary.org/obo/DOID_0080503 multiple congenital anomalies-hypotonia-seizures syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. http://purl.obolibrary.org/obo/DOID_0111030 hemochromatosis type 3 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_11452 perinatal jaundice due to hepatocellular damage http://purl.obolibrary.org/obo/DOID_2383 neonatal jaundice http://purl.obolibrary.org/obo/DOID_0080531 dedifferentiated liposarcoma http://purl.obolibrary.org/obo/DOID_3382 liposarcoma A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. http://purl.obolibrary.org/obo/DOID_0111031 hemochromatosis type 5 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_12043 kernicterus due to isoimmunization http://purl.obolibrary.org/obo/DOID_2383 neonatal jaundice http://purl.obolibrary.org/obo/DOID_0080532 Smarca4-deficient sarcoma of thorax http://purl.obolibrary.org/obo/DOID_5093 thoracic cancer A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). http://purl.obolibrary.org/obo/DOID_0111032 hemochromatosis type 2B http://purl.obolibrary.org/obo/DOID_0111034 hemochromatosis type 2 A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_1406 iritis http://purl.obolibrary.org/obo/DOID_240 iris disease http://purl.obolibrary.org/obo/DOID_0080533 Carney-Stratakis syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. http://purl.obolibrary.org/obo/DOID_0111033 African iron overload http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. http://purl.obolibrary.org/obo/DOID_10772 thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/DOID_2452 thrombophilia http://purl.obolibrary.org/obo/DOID_0080534 myxofibrosarcoma http://purl.obolibrary.org/obo/DOID_1115 sarcoma A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. http://purl.obolibrary.org/obo/DOID_0111034 hemochromatosis type 2 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. http://purl.obolibrary.org/obo/DOID_11247 disseminated intravascular coagulation http://purl.obolibrary.org/obo/DOID_2452 thrombophilia http://purl.obolibrary.org/obo/DOID_0080535 hypermanganesemia with dystonia http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. http://purl.obolibrary.org/obo/DOID_0111035 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 http://purl.obolibrary.org/obo/DOID_13945 CADASIL A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13999 contact blepharoconjunctivitis http://purl.obolibrary.org/obo/DOID_2456 blepharoconjunctivitis http://purl.obolibrary.org/obo/DOID_0080536 hypermanganesemia with dystonia 1 http://purl.obolibrary.org/obo/DOID_0080535 hypermanganesemia with dystonia A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. http://purl.obolibrary.org/obo/DOID_0111036 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 http://purl.obolibrary.org/obo/DOID_13945 CADASIL A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_11295 retinal microaneurysm http://purl.obolibrary.org/obo/DOID_2462 retinal vascular disease http://purl.obolibrary.org/obo/DOID_0080537 hypermanganesemia with dystonia 2 http://purl.obolibrary.org/obo/DOID_0080535 hypermanganesemia with dystonia A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_0111037 glycine N-methyltransferase deficiency http://purl.obolibrary.org/obo/DOID_0050544 hypermethioninemia A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_8947 diabetic retinopathy http://purl.obolibrary.org/obo/DOID_2462 retinal vascular disease http://purl.obolibrary.org/obo/DOID_0080538 Sweeney-Cox syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. http://purl.obolibrary.org/obo/DOID_0111038 hypermethioninemia due to adenosine kinase deficiency http://purl.obolibrary.org/obo/DOID_0050544 hypermethioninemia A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_8646 substance-induced psychosis http://purl.obolibrary.org/obo/DOID_2468 psychotic disorder http://purl.obolibrary.org/obo/DOID_0080539 PEHO syndrome http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. http://purl.obolibrary.org/obo/DOID_0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase http://purl.obolibrary.org/obo/DOID_0050544 hypermethioninemia A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_13326 chronic follicular conjunctivitis http://purl.obolibrary.org/obo/DOID_2475 chronic conjunctivitis http://purl.obolibrary.org/obo/DOID_0080540 galactosialidosis http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0111040 glycogen storage disease IXd http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. http://purl.obolibrary.org/obo/DOID_13341 parasitic conjunctivitis http://purl.obolibrary.org/obo/DOID_2475 chronic conjunctivitis http://purl.obolibrary.org/obo/DOID_0080541 hyperprolinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amno acid metabolic disorder that is characterized by the excess of proline in the blood. http://purl.obolibrary.org/obo/DOID_0111041 glycogen storage disease IXb http://purl.obolibrary.org/obo/DOID_0050594 glycogen storage disease IX A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. http://purl.obolibrary.org/obo/DOID_10846 angiodysplasia of intestine http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_0080542 hyperprolinemia type 1 http://purl.obolibrary.org/obo/DOID_0080541 hyperprolinemia A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_0111042 glycogen storage disease IXa1 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_13629 dentine erosion http://purl.obolibrary.org/obo/DOID_2498 tooth erosion http://purl.obolibrary.org/obo/DOID_0080543 hyperprolinemia type 2 http://purl.obolibrary.org/obo/DOID_0080541 hyperprolinemia A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0111043 glycogen storage disease IXc http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_14140 pulp erosion http://purl.obolibrary.org/obo/DOID_2498 tooth erosion http://purl.obolibrary.org/obo/DOID_0111044 gray platelet syndrome http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0111265 Boucher-Neuhauser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. http://purl.obolibrary.org/obo/DOID_11994 atrophy of testis http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/DOID_0111045 platelet-type bleeding disorder 9 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/DOID_0111266 geroderma osteodysplasticum http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. http://purl.obolibrary.org/obo/DOID_11996 spermatic cord torsion http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/DOID_0111046 platelet-type bleeding disorder 10 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0111267 hyaline body myopathy http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. http://purl.obolibrary.org/obo/DOID_12332 hematocele of tunica vaginalis testis http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/DOID_0111047 platelet-type bleeding disorder 14 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0111268 autosomal recessive hyaline body myopathy http://purl.obolibrary.org/obo/DOID_0111267 hyaline body myopathy A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. http://purl.obolibrary.org/obo/DOID_11786 splenic sequestration http://purl.obolibrary.org/obo/DOID_2529 splenic disease http://purl.obolibrary.org/obo/DOID_0111048 platelet-type bleeding disorder 19 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_0111269 autosomal dominant hyaline body myopathy http://purl.obolibrary.org/obo/DOID_0111267 hyaline body myopathy A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. http://purl.obolibrary.org/obo/DOID_11787 chronic congestive splenomegaly http://purl.obolibrary.org/obo/DOID_2529 splenic disease http://purl.obolibrary.org/obo/DOID_0111049 platelet-type bleeding disorder 17 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0111270 isolated sulfite oxidase deficiency http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. http://purl.obolibrary.org/obo/DOID_14183 alcoholic neuropathy http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy http://purl.obolibrary.org/obo/DOID_0111050 Quebec platelet disorder http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0111271 Oliver-McFarlane syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. http://purl.obolibrary.org/obo/DOID_14184 polyneuropathy due to drug http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy http://purl.obolibrary.org/obo/DOID_0111051 platelet-type bleeding disorder 18 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0111272 occipital horn syndrome http://purl.obolibrary.org/obo/DOID_896 metal metabolism disorder A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. http://purl.obolibrary.org/obo/DOID_14402 critical illness polyneuropathy http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy http://purl.obolibrary.org/obo/DOID_0111052 Scott syndrome http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. http://purl.obolibrary.org/obo/DOID_0111273 NARP syndrome http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. http://purl.obolibrary.org/obo/DOID_13081 hemangioma of subcutaneous tissue http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_0111053 platelet-type bleeding disorder 15 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. http://purl.obolibrary.org/obo/DOID_0111274 CODAS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. http://purl.obolibrary.org/obo/DOID_14308 skin epithelioid hemangioma http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_0111054 von Willebrand's disease 3 http://purl.obolibrary.org/obo/DOID_12531 von Willebrand's disease A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0111275 speech-language disorder-1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. http://purl.obolibrary.org/obo/DOID_471 skin hemangioma http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_0111055 platelet-type bleeding disorder 20 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. http://purl.obolibrary.org/obo/DOID_474 histiocytoid hemangioma http://purl.obolibrary.org/obo/DOID_255 hemangioma http://purl.obolibrary.org/obo/DOID_0111056 platelet-type bleeding disorder 3 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0111277 mitochondrial trifunctional protein deficiency http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy. http://purl.obolibrary.org/obo/DOID_5241 hemangioblastoma http://purl.obolibrary.org/obo/DOID_255 hemangioma http://purl.obolibrary.org/obo/DOID_0111057 platelet-type bleeding disorder 11 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0111278 histiocytosis-lymphadenopathy plus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. http://purl.obolibrary.org/obo/DOID_11472 subglottis cancer http://purl.obolibrary.org/obo/DOID_2596 larynx cancer http://purl.obolibrary.org/obo/DOID_0111058 platelet-type bleeding disorder 12 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. http://purl.obolibrary.org/obo/DOID_0080642 Middle East respiratory syndrome http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli). http://purl.obolibrary.org/obo/DOID_13348 laryngeal cartilage cancer http://purl.obolibrary.org/obo/DOID_2596 larynx cancer http://purl.obolibrary.org/obo/DOID_0111059 Bernard-Soulier syndrome type A2 http://purl.obolibrary.org/obo/DOID_2217 Bernard-Soulier syndrome A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. http://purl.obolibrary.org/obo/DOID_0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. http://purl.obolibrary.org/obo/DOID_13476 supraglottis cancer http://purl.obolibrary.org/obo/DOID_2596 larynx cancer http://purl.obolibrary.org/obo/DOID_0111060 Ambras type hypertrichosis universalis congenita http://purl.obolibrary.org/obo/DOID_420 hypertrichosis A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. http://purl.obolibrary.org/obo/DOID_0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. http://purl.obolibrary.org/obo/DOID_10610 pancreatic steatorrhea http://purl.obolibrary.org/obo/DOID_26 pancreas disease http://purl.obolibrary.org/obo/DOID_0111061 familial hypobetalipoproteinemia 2 http://purl.obolibrary.org/obo/DOID_1390 hypobetalipoproteinemia A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. http://purl.obolibrary.org/obo/DOID_13313 pancreatic mucinous ductal ectasia http://purl.obolibrary.org/obo/DOID_26 pancreas disease http://purl.obolibrary.org/obo/DOID_0111062 familial hypobetalipoproteinemia 1 http://purl.obolibrary.org/obo/DOID_1390 hypobetalipoproteinemia A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. http://purl.obolibrary.org/obo/DOID_0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. http://purl.obolibrary.org/obo/DOID_0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. http://purl.obolibrary.org/obo/DOID_139 squamous cell papilloma http://purl.obolibrary.org/obo/DOID_2615 papilloma http://purl.obolibrary.org/obo/DOID_0111063 hyperphosphatemic familial tumoral calcinosis http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. http://purl.obolibrary.org/obo/DOID_0080648 B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). http://purl.obolibrary.org/obo/DOID_1627 intraductal papilloma http://purl.obolibrary.org/obo/DOID_3013 intraductal breast benign neoplasm http://purl.obolibrary.org/obo/DOID_0111064 autosomal recessive distal hereditary motor neuronopathy 1 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0080649 B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. http://purl.obolibrary.org/obo/DOID_173 eccrine sweat gland neoplasm http://purl.obolibrary.org/obo/DOID_2664 sweat gland benign neoplasm http://purl.obolibrary.org/obo/DOID_0111065 autosomal recessive distal hereditary motor neuronopathy 2 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion. http://purl.obolibrary.org/obo/DOID_13454 gonococcal synovitis http://purl.obolibrary.org/obo/DOID_2703 synovitis http://purl.obolibrary.org/obo/DOID_0111066 congenital bile acid synthesis defect 5 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. http://purl.obolibrary.org/obo/DOID_10762 portal hypertension http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease http://purl.obolibrary.org/obo/DOID_0111067 congenital bile acid synthesis defect 6 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. http://purl.obolibrary.org/obo/DOID_0080810 acute asthma http://purl.obolibrary.org/obo/DOID_2841 asthma An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment. http://purl.obolibrary.org/obo/DOID_13738 hepatic infarction http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease http://purl.obolibrary.org/obo/DOID_0111068 congenital bile acid synthesis defect 4 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. http://purl.obolibrary.org/obo/DOID_0080811 extrinsic asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. http://purl.obolibrary.org/obo/DOID_13739 nutmeg liver http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease http://purl.obolibrary.org/obo/DOID_0111069 congenital bile acid synthesis defect 2 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. http://purl.obolibrary.org/obo/DOID_0080781 benign exocrine pancreas neoplasm http://purl.obolibrary.org/obo/DOID_0060089 endocrine organ benign neoplasm An endocrine organ benign neoplasm arising from the exocrine pancreas. http://purl.obolibrary.org/obo/DOID_11330 erysipelas http://purl.obolibrary.org/obo/DOID_2723 dermatitis http://purl.obolibrary.org/obo/DOID_0111070 congenital bile acid synthesis defect 3 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. http://purl.obolibrary.org/obo/DOID_0080782 mucinous pancreas adenocarcinoma http://purl.obolibrary.org/obo/DOID_4074 pancreatic adenocarcinoma A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. http://purl.obolibrary.org/obo/DOID_11129 dislocation of ear ossicle http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/DOID_0111071 congenital bile acid synthesis defect 1 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. http://purl.obolibrary.org/obo/DOID_0080784 urinary tract infection http://purl.obolibrary.org/obo/DOID_18 urinary system disease An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra. http://purl.obolibrary.org/obo/DOID_11783 necrosis of ear ossicle http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/DOID_0111072 myostatin-related muscle hypertrophy http://purl.obolibrary.org/obo/DOID_66 muscle tissue disease A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/DOID_0080785 Brown-Vialetto-Van Laere syndrome 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_2889 retrocochlear disease http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. http://purl.obolibrary.org/obo/DOID_0080786 Brown-Vialetto-Van Laere syndrome 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_5100 middle ear disease http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/DOID_0111074 progressive familial heart block type IA http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0080787 proximal symphalangism 1 http://purl.obolibrary.org/obo/DOID_0050788 proximal symphalangism A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_11400 pyelonephritis http://purl.obolibrary.org/obo/DOID_2744 pyelitis http://purl.obolibrary.org/obo/DOID_0111075 progressive familial heart block type II http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. http://purl.obolibrary.org/obo/DOID_0080788 proximal symphalangism 2 http://purl.obolibrary.org/obo/DOID_0050788 proximal symphalangism A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_4205 cerebellum cancer http://purl.obolibrary.org/obo/DOID_4706 infratentorial cancer http://purl.obolibrary.org/obo/DOID_0111076 progressive familial heart block type IB http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0080789 Treacher Collins syndrome 1 http://purl.obolibrary.org/obo/DOID_2908 Treacher Collins syndrome A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_1352 paranasal sinus disease http://purl.obolibrary.org/obo/DOID_2825 nose disease http://purl.obolibrary.org/obo/DOID_0111077 congenital nonspherocytic hemolytic anemia 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0080790 Treacher Collins syndrome 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. http://purl.obolibrary.org/obo/DOID_2163 nasal cavity disease http://purl.obolibrary.org/obo/DOID_2825 nose disease http://purl.obolibrary.org/obo/DOID_0111078 tibial muscular dystrophy http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0080791 Treacher Collins syndrome 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_10783 methemoglobinemia http://purl.obolibrary.org/obo/DOID_2860 hemoglobinopathy http://purl.obolibrary.org/obo/DOID_12657 vestibulocochlear nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/DOID_0111079 birdshot chorioretinopathy http://purl.obolibrary.org/obo/DOID_12574 posterior uveitis A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. http://purl.obolibrary.org/obo/DOID_0111080 Fanconi anemia complementation group V http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0080792 Treacher Collins syndrome 4 http://purl.obolibrary.org/obo/DOID_2908 Treacher Collins syndrome A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. http://purl.obolibrary.org/obo/DOID_12756 lacrimal duct cancer http://purl.obolibrary.org/obo/DOID_292 lacrimal system cancer http://purl.obolibrary.org/obo/DOID_0111081 Fanconi anemia complementation group T http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0080794 childhood acute megakaryoblastic leukemia http://purl.obolibrary.org/obo/DOID_8761 acute megakaryocytic leukemia An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. http://purl.obolibrary.org/obo/DOID_10976 membranous glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/DOID_0111082 Fanconi anemia complementation group L http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. http://purl.obolibrary.org/obo/DOID_0080795 acute basophilic leukemia http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia that is characterized by primary differentiation to basophils. http://purl.obolibrary.org/obo/DOID_11036 chronic rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/DOID_0111083 Fanconi anemia complementation group D2 http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0080796 core binding factor acute myeloid leukemia http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. http://purl.obolibrary.org/obo/DOID_13138 acute proliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/DOID_0111084 Fanconi anemia complementation group E http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. http://purl.obolibrary.org/obo/DOID_0080797 nasal type extranodal NK/T-cell lymphoma http://purl.obolibrary.org/obo/DOID_10811 nasal cavity cancer A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. http://purl.obolibrary.org/obo/DOID_14064 acute poststreptococcal glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/DOID_0111085 Fanconi anemia complementation group U http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_0080798 myeloid leukemia associated with Down Syndrome http://purl.obolibrary.org/obo/DOID_8761 acute megakaryocytic leukemia An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. http://purl.obolibrary.org/obo/DOID_4781 diffuse glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/DOID_566 labyrinthine dysfunction http://purl.obolibrary.org/obo/DOID_2952 inner ear disease http://purl.obolibrary.org/obo/DOID_0111086 Fanconi anemia complementation group G http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_0080799 sinonasal undifferentiated carcinoma http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. http://purl.obolibrary.org/obo/DOID_12276 malignant tumor of undescended testis http://purl.obolibrary.org/obo/DOID_2998 testicular cancer http://purl.obolibrary.org/obo/DOID_0111087 Fanconi anemia complementation group C http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0111088 Fanconi anemia complementation group F http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0080800 salivary gland mucinous adenocarcinoma http://purl.obolibrary.org/obo/DOID_0050904 salivary gland carcinoma A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. http://purl.obolibrary.org/obo/DOID_12286 testicular leukemia http://purl.obolibrary.org/obo/DOID_2998 testicular cancer http://purl.obolibrary.org/obo/DOID_0080801 autosomal dominant craniometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080033 craniometaphyseal dysplasia A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_0111089 Fanconi anemia complementation group D1 http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. http://purl.obolibrary.org/obo/DOID_12342 retroperitoneum carcinoma http://purl.obolibrary.org/obo/DOID_5875 retroperitoneal cancer http://purl.obolibrary.org/obo/DOID_0080802 autosomal recessive craniometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080033 craniometaphyseal dysplasia A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_0080803 cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_0111090 Fanconi anemia complementation group R http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_3445 scrotal carcinoma http://purl.obolibrary.org/obo/DOID_518 scrotum neoplasm http://purl.obolibrary.org/obo/DOID_0080804 cranioectodermal dysplasia 2 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. http://purl.obolibrary.org/obo/DOID_0111091 Fanconi anemia complementation group I http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_3181 oligodendroglioma http://purl.obolibrary.org/obo/DOID_3070 high grade glioma http://purl.obolibrary.org/obo/DOID_0111092 Fanconi anemia complementation group P http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0080805 cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_13924 necrotizing ulcerative gingivitis http://purl.obolibrary.org/obo/DOID_3087 gingivitis http://purl.obolibrary.org/obo/DOID_0111093 Fanconi anemia complementation group Q http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0080806 cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/DOID_0050577 cranioectodermal dysplasia A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. http://purl.obolibrary.org/obo/DOID_171 neuroectodermal tumor http://purl.obolibrary.org/obo/DOID_3093 nervous system cancer http://purl.obolibrary.org/obo/DOID_0111094 Fanconi anemia complementation group N http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_0080807 autosomal dominant craniodiaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080032 craniodiaphyseal dysplasia A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_12298 intrahepatic gall duct cancer http://purl.obolibrary.org/obo/DOID_3121 gallbladder cancer http://purl.obolibrary.org/obo/DOID_0111095 Fanconi anemia complementation group A http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0080808 mammary analogue secretory carcinoma http://purl.obolibrary.org/obo/DOID_0050904 salivary gland carcinoma A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. http://purl.obolibrary.org/obo/DOID_12639 pyloric stenosis http://purl.obolibrary.org/obo/DOID_3122 gastric outlet obstruction http://purl.obolibrary.org/obo/DOID_0111096 Fanconi anemia complementation group O http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. http://purl.obolibrary.org/obo/DOID_0080812 intermittent asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. http://purl.obolibrary.org/obo/DOID_11014 anorectal stricture http://purl.obolibrary.org/obo/DOID_3128 anus disease http://purl.obolibrary.org/obo/DOID_0111097 Fanconi anemia complementation group J http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0080813 persistent mild asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. http://purl.obolibrary.org/obo/DOID_11374 anal spasm http://purl.obolibrary.org/obo/DOID_3128 anus disease http://purl.obolibrary.org/obo/DOID_0111098 Fanconi anemia complementation group B http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_0080814 persistent moderate asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. http://purl.obolibrary.org/obo/DOID_14498 lipoid proteinosis http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder http://purl.obolibrary.org/obo/DOID_0111099 maturity-onset diabetes of the young type 1 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. http://purl.obolibrary.org/obo/DOID_0080815 childhood-onset asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by first presentation in early childhood. http://purl.obolibrary.org/obo/DOID_14692 Smith-Lemli-Opitz syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder http://purl.obolibrary.org/obo/DOID_0111100 maturity-onset diabetes of the young type 2 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. http://purl.obolibrary.org/obo/DOID_0080816 adult-onset severe asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by first presentation in adulthood. http://purl.obolibrary.org/obo/DOID_14116 multiple symmetric lipomatosis http://purl.obolibrary.org/obo/DOID_3153 lipomatosis http://purl.obolibrary.org/obo/DOID_0111101 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0080817 T2-high asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. http://purl.obolibrary.org/obo/DOID_0080818 T2-low asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. http://purl.obolibrary.org/obo/DOID_172 clear cell acanthoma http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_0111102 maturity-onset diabetes of the young type 3 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0080819 environmentally induced asthma http://purl.obolibrary.org/obo/DOID_9360 intrinsic asthma An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter. http://purl.obolibrary.org/obo/DOID_174 acanthoma http://purl.obolibrary.org/obo/DOID_3168 squamous cell neoplasm http://purl.obolibrary.org/obo/DOID_0111103 maturity-onset diabetes of the young type 4 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. http://purl.obolibrary.org/obo/DOID_0080820 occupational asthma http://purl.obolibrary.org/obo/DOID_0080819 environmentally induced asthma An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace. http://purl.obolibrary.org/obo/DOID_1089 tethered spinal cord syndrome http://purl.obolibrary.org/obo/DOID_319 spinal cord disease http://purl.obolibrary.org/obo/DOID_0111104 maturity-onset diabetes of the young type 6 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0080821 exercise-induced bronchoconstriction http://purl.obolibrary.org/obo/DOID_9360 intrinsic asthma An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise. http://purl.obolibrary.org/obo/DOID_12689 acoustic neuroma http://purl.obolibrary.org/obo/DOID_3192 neurilemmoma http://purl.obolibrary.org/obo/DOID_0111105 maturity-onset diabetes of the young type 8 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. http://purl.obolibrary.org/obo/DOID_0080822 aspirin-induced respiratory disease http://purl.obolibrary.org/obo/DOID_9360 intrinsic asthma An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs. http://purl.obolibrary.org/obo/DOID_956 peripheral nerve schwannoma http://purl.obolibrary.org/obo/DOID_3192 neurilemmoma http://purl.obolibrary.org/obo/DOID_0111106 maturity-onset diabetes of the young type 7 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_0080823 near-fatal asthma http://purl.obolibrary.org/obo/DOID_0080810 acute asthma An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. http://purl.obolibrary.org/obo/DOID_14500 fucosidosis http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease http://purl.obolibrary.org/obo/DOID_0111107 maturity-onset diabetes of the young type 9 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. http://purl.obolibrary.org/obo/DOID_0080824 persistent severe asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. http://purl.obolibrary.org/obo/DOID_14022 algoneurodystrophy http://purl.obolibrary.org/obo/DOID_3223 complex regional pain syndrome http://purl.obolibrary.org/obo/DOID_0111108 maturity-onset diabetes of the young type 10 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_0080825 thunderstorm triggered asthma http://purl.obolibrary.org/obo/DOID_9415 allergic asthma An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen. http://purl.obolibrary.org/obo/DOID_14224 tracheal calcification http://purl.obolibrary.org/obo/DOID_3225 tracheal disease http://purl.obolibrary.org/obo/DOID_0080826 nocturnal asthma http://purl.obolibrary.org/obo/DOID_0080809 chronic asthma A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. http://purl.obolibrary.org/obo/DOID_0111109 maturity-onset diabetes of the young type 11 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. http://purl.obolibrary.org/obo/DOID_12835 quadriplegia http://purl.obolibrary.org/obo/DOID_331 central nervous system disease http://purl.obolibrary.org/obo/DOID_0111110 maturity-onset diabetes of the young type 13 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0112060 Raynaud-Claes syndrome http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_319 spinal cord disease http://purl.obolibrary.org/obo/DOID_331 central nervous system disease http://purl.obolibrary.org/obo/DOID_0111111 maturity-onset diabetes of the young type 14 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. http://purl.obolibrary.org/obo/DOID_0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. http://purl.obolibrary.org/obo/DOID_11840 coronary artery vasospasm http://purl.obolibrary.org/obo/DOID_3393 coronary artery disease http://purl.obolibrary.org/obo/DOID_0111112 nephronophthisis 1 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_11843 coronary artery anomaly http://purl.obolibrary.org/obo/DOID_3393 coronary artery disease http://purl.obolibrary.org/obo/DOID_0111113 nephronophthisis 2 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. http://purl.obolibrary.org/obo/DOID_0112063 X-Linked immunodeficiency 74 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_11847 coronary thrombosis http://purl.obolibrary.org/obo/DOID_0060903 thrombosis http://purl.obolibrary.org/obo/DOID_0111114 nephronophthisis 3 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. http://purl.obolibrary.org/obo/DOID_0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. http://purl.obolibrary.org/obo/DOID_13001 carotid stenosis http://purl.obolibrary.org/obo/DOID_3407 carotid artery disease http://purl.obolibrary.org/obo/DOID_0111115 nephronophthisis 4 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency http://purl.obolibrary.org/obo/DOID_0060536 mitochondrial complex I deficiency A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. http://purl.obolibrary.org/obo/DOID_1272 telangiectasis http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/DOID_0111116 nephronophthisis 7 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0112066 nuclear type mitochondrial complex I deficiency 6 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_12918 thromboangiitis obliterans http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/DOID_0111117 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_0112067 nuclear type mitochondrial complex I deficiency 25 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. http://purl.obolibrary.org/obo/DOID_13252 mesenteric vascular occlusion http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/DOID_0111118 nephronophthisis 11 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_0112068 nuclear type mitochondrial complex I deficiency 5 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/DOID_0111119 nephronophthisis 12 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_0112069 nuclear type mitochondrial complex I deficiency 22 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. http://purl.obolibrary.org/obo/DOID_12491 Vagus nerve disease http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease http://purl.obolibrary.org/obo/DOID_0111120 nephronophthisis 9 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_0112070 nuclear type mitochondrial complex I deficiency 18 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. http://purl.obolibrary.org/obo/DOID_13866 multiple cranial nerve palsy http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease http://purl.obolibrary.org/obo/DOID_0111121 nephronophthisis 13 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. http://purl.obolibrary.org/obo/DOID_0111122 nephronophthisis 14 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. http://purl.obolibrary.org/obo/DOID_0112071 nuclear type mitochondrial complex I deficiency 31 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. http://purl.obolibrary.org/obo/DOID_14423 glossopharyngeal neuralgia http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease http://purl.obolibrary.org/obo/DOID_0111123 nephronophthisis 15 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. http://purl.obolibrary.org/obo/DOID_0112072 nuclear type mitochondrial complex I deficiency 20 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. http://purl.obolibrary.org/obo/DOID_240 iris disease http://purl.obolibrary.org/obo/DOID_3480 uveal disease http://purl.obolibrary.org/obo/DOID_0111124 nephronophthisis 16 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0112073 nuclear type mitochondrial complex I deficiency 9 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/DOID_10941 intracranial aneurysm http://purl.obolibrary.org/obo/DOID_3527 cerebral arterial disease http://purl.obolibrary.org/obo/DOID_0111125 nephronophthisis 18 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. http://purl.obolibrary.org/obo/DOID_0112074 nuclear type mitochondrial complex I deficiency 1 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/DOID_0111126 nephronophthisis 19 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. http://purl.obolibrary.org/obo/DOID_14174 central neurocytoma http://purl.obolibrary.org/obo/DOID_3541 cerebral ventricle cancer http://purl.obolibrary.org/obo/DOID_0112075 nuclear type mitochondrial complex I deficiency 10 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. http://purl.obolibrary.org/obo/DOID_0111127 nephronophthisis 20 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_13687 chronic duodenal ileus http://purl.obolibrary.org/obo/DOID_3558 duodenal obstruction http://purl.obolibrary.org/obo/DOID_0111128 focal segmental glomerulosclerosis 1 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_0112076 nuclear type mitochondrial complex I deficiency 13 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. http://purl.obolibrary.org/obo/DOID_11316 histoplasmosis retinitis http://purl.obolibrary.org/obo/DOID_3612 retinitis http://purl.obolibrary.org/obo/DOID_0111129 focal segmental glomerulosclerosis 2 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1. http://purl.obolibrary.org/obo/DOID_0112077 nuclear type mitochondrial complex I deficiency 15 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1. http://purl.obolibrary.org/obo/DOID_1130 pituitary infarct http://purl.obolibrary.org/obo/DOID_3646 necrosis of pituitary http://purl.obolibrary.org/obo/DOID_0111130 focal segmental glomerulosclerosis 5 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33. http://purl.obolibrary.org/obo/DOID_0112078 nuclear type mitochondrial complex I deficiency 17 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_11355 bladder calculus http://purl.obolibrary.org/obo/DOID_9590 lower urinary tract calculus http://purl.obolibrary.org/obo/DOID_0111131 focal segmental glomerulosclerosis 6 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2. http://purl.obolibrary.org/obo/DOID_0112079 nuclear type mitochondrial complex I deficiency 24 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. http://purl.obolibrary.org/obo/DOID_12143 neurogenic bladder http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/DOID_0111132 focal segmental glomerulosclerosis 7 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/DOID_0112080 nuclear type mitochondrial complex I deficiency 32 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/DOID_12144 low compliance bladder http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/DOID_0111133 focal segmental glomerulosclerosis 8 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2. http://purl.obolibrary.org/obo/DOID_0112081 nuclear type mitochondrial complex I deficiency 8 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_12145 detrusor sphincter dyssynergia http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/DOID_0111134 focal segmental glomerulosclerosis 9 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_0112082 nuclear type mitochondrial complex I deficiency 4 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_13948 bladder neck obstruction http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/DOID_0111135 congenital generalized lipodystrophy type 1 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_0112083 nuclear type mitochondrial complex I deficiency 2 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_12309 urticaria pigmentosa http://purl.obolibrary.org/obo/DOID_3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/DOID_0111136 congenital generalized lipodystrophy type 2 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. http://purl.obolibrary.org/obo/DOID_0112084 nuclear type mitochondrial complex I deficiency 29 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_12016 frontal lobe neoplasm http://purl.obolibrary.org/obo/DOID_368 cerebrum cancer http://purl.obolibrary.org/obo/DOID_0111137 congenital generalized lipodystrophy type 3 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. http://purl.obolibrary.org/obo/DOID_0112085 nuclear type mitochondrial complex I deficiency 19 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2. http://purl.obolibrary.org/obo/DOID_3153 lipomatosis http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/DOID_0111138 congenital generalized lipodystrophy type 4 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_0112086 nuclear type mitochondrial complex I deficiency 26 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. http://purl.obolibrary.org/obo/DOID_10541 microinvasive gastric cancer http://purl.obolibrary.org/obo/DOID_3717 gastric adenocarcinoma http://purl.obolibrary.org/obo/DOID_0080193 superior semicircular canal dehiscence http://purl.obolibrary.org/obo/DOID_2952 inner ear disease An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. http://purl.obolibrary.org/obo/DOID_0112087 nuclear type mitochondrial complex I deficiency 23 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. http://purl.obolibrary.org/obo/DOID_12123 postinflammatory pulmonary fibrosis http://purl.obolibrary.org/obo/DOID_3770 pulmonary fibrosis http://purl.obolibrary.org/obo/DOID_0080194 Carey-Fineman-Ziter syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. http://purl.obolibrary.org/obo/DOID_0112088 nuclear type mitochondrial complex I deficiency 21 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_1123 spondyloarthropathy http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080195 Marinesco-Sjogren syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. http://purl.obolibrary.org/obo/DOID_0112089 nuclear type mitochondrial complex I deficiency 11 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1. http://purl.obolibrary.org/obo/DOID_12225 Plica syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080196 mandibulofacial dysostosis, Guion-Almeida type http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. http://purl.obolibrary.org/obo/DOID_0112090 nuclear type mitochondrial complex I deficiency 27 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. http://purl.obolibrary.org/obo/DOID_13781 hypermobility syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080197 congenital muscular dystrophy with cataracts and intellectual disability http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0112091 nuclear type mitochondrial complex I deficiency 34 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_14107 De Quervain disease http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080198 infantile histiocytoid cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. http://purl.obolibrary.org/obo/DOID_0112092 nuclear type mitochondrial complex I deficiency 7 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. http://purl.obolibrary.org/obo/DOID_14276 shoulder impingement syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0060904 legume allergy http://purl.obolibrary.org/obo/DOID_0060503 fruit allergy A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. http://purl.obolibrary.org/obo/DOID_0112093 nuclear type mitochondrial complex I deficiency 3 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_14284 patellofemoral pain syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080661 nonsyndromic aplasia cutis congenita http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. http://purl.obolibrary.org/obo/DOID_0112094 nuclear type mitochondrial complex I deficiency 14 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_14286 neurogenic arthropathy http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080662 atrial standstill 1 http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. http://purl.obolibrary.org/obo/DOID_0112095 nuclear type mitochondrial complex I deficiency 28 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_1670 Behcet's syndrome arthropathy http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080663 atrial standstill 2 http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0112096 nuclear type mitochondrial complex I deficiency 16 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. http://purl.obolibrary.org/obo/DOID_2092 transient arthritis http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. http://purl.obolibrary.org/obo/DOID_0112097 nuclear type mitochondrial complex I deficiency 33 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_13169 spermatic cord cancer http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_0080665 warfarin resistance http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin. http://purl.obolibrary.org/obo/DOID_0080666 warfarin sensitivity http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. http://purl.obolibrary.org/obo/DOID_0112098 nuclear type mitochondrial complex I deficiency 30 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_518 scrotum neoplasm http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_0111790 congenital nystagmus 1 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene (FERM domain-containing-7) on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0112099 nuclear type mitochondrial complex I deficiency 12 http://purl.obolibrary.org/obo/DOID_0112065 nuclear type mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_5639 rete testis neoplasm http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_0111791 congenital nystagmus 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1. http://purl.obolibrary.org/obo/DOID_0112100 mitochondrial type mitochondrial complex I deficiency http://purl.obolibrary.org/obo/DOID_0060536 mitochondrial complex I deficiency A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome. http://purl.obolibrary.org/obo/DOID_10880 iliac vein thrombophlebitis http://purl.obolibrary.org/obo/DOID_3875 thrombophlebitis http://purl.obolibrary.org/obo/DOID_0111792 congenital nystagmus 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. http://purl.obolibrary.org/obo/DOID_0112101 mitochondrial type mitochondrial complex I deficiency 1 http://purl.obolibrary.org/obo/DOID_0112100 mitochondrial type mitochondrial complex I deficiency A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome. http://purl.obolibrary.org/obo/DOID_12282 femoral vein thrombophlebitis http://purl.obolibrary.org/obo/DOID_3875 thrombophlebitis http://purl.obolibrary.org/obo/DOID_0111793 congenital nystagmus 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2. http://purl.obolibrary.org/obo/DOID_0070374 leukoencephalopathy with vanishing white matter 1 http://purl.obolibrary.org/obo/DOID_0060868 leukoencephalopathy with vanishing white matter A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_10778 fiedler's myocarditis http://purl.obolibrary.org/obo/DOID_3951 acute myocarditis http://purl.obolibrary.org/obo/DOID_0111795 congenital nystagmus 6 http://purl.obolibrary.org/obo/DOID_9649 congenital nystagmus A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_0081422 familial focal epilepsy with variable foci 2 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_10493 adrenal cortical hypofunction http://purl.obolibrary.org/obo/DOID_3952 adrenal cortex disease http://purl.obolibrary.org/obo/DOID_0081429 autosomal recessive distal hereditary motor neuronopathy 10 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0111796 congenital nystagmus 5 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_12932 endomyocardial fibrosis http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy http://purl.obolibrary.org/obo/DOID_0081403 BCOR ITD sarcoma http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. http://purl.obolibrary.org/obo/DOID_0111797 autosomal recessive congenital nystagmus http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital nystagmus characterized by autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_12935 alcoholic cardiomyopathy http://purl.obolibrary.org/obo/DOID_3978 extrinsic cardiomyopathy http://purl.obolibrary.org/obo/DOID_0081412 B-lymphoblastic leukemia with DUX4 rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. http://purl.obolibrary.org/obo/DOID_0111798 X-linked nephrolithiasis type I http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_5749 pulmonary valve disease http://purl.obolibrary.org/obo/DOID_4079 heart valve disease http://purl.obolibrary.org/obo/DOID_0081405 childhood sarcoma with BCOR genetic alterations http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations A sarcoma with BCOR genetic alterations that occurs during childhood. http://purl.obolibrary.org/obo/DOID_0111799 syndromic microphthalmia 1 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_61 mitral valve disease http://purl.obolibrary.org/obo/DOID_4079 heart valve disease http://purl.obolibrary.org/obo/DOID_0081410 round cell sarcoma with FUS-NFATC2 gene fusion http://purl.obolibrary.org/obo/DOID_0081406 round cell sarcoma with EWSR1-non-ETS fusion A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. http://purl.obolibrary.org/obo/DOID_0111800 syndromic microphthalmia 12 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. http://purl.obolibrary.org/obo/DOID_5082 liver cirrhosis http://purl.obolibrary.org/obo/DOID_409 liver disease http://purl.obolibrary.org/obo/DOID_0070604 autosomal dominant nonsyndromic deafness 84 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. http://purl.obolibrary.org/obo/DOID_0111801 syndromic microphthalmia 3 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. http://purl.obolibrary.org/obo/DOID_13168 prepuce cancer http://purl.obolibrary.org/obo/DOID_4159 skin cancer http://purl.obolibrary.org/obo/DOID_0060985 preaxial polydactyly type IV http://purl.obolibrary.org/obo/DOID_1148 polydactyly A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14. http://purl.obolibrary.org/obo/DOID_1577 limited scleroderma http://purl.obolibrary.org/obo/DOID_418 systemic scleroderma http://purl.obolibrary.org/obo/DOID_0111802 syndromic microphthalmia 14 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. http://purl.obolibrary.org/obo/DOID_0070609 autosomal dominant nonsyndromic deafness 83 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_1578 pulmonary systemic sclerosis http://purl.obolibrary.org/obo/DOID_850 lung disease http://purl.obolibrary.org/obo/DOID_0111803 syndromic microphthalmia 8 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. http://purl.obolibrary.org/obo/DOID_0061237 aggressive periodontitis 1 http://purl.obolibrary.org/obo/DOID_1474 aggressive periodontitis A periodontitis that has_material_basis_in homozygous mutation in the CTSC gene on chromosome 11q14. http://purl.obolibrary.org/obo/DOID_0061238 Stargardt disease 3 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by macular pigmentary changes and yellow flecks and macular retinal pigment epithelium defects and has_material_basis_in heterozygous mutation in the ELOVL4 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_1580 diffuse scleroderma http://purl.obolibrary.org/obo/DOID_418 systemic scleroderma http://purl.obolibrary.org/obo/DOID_0111804 syndromic microphthalmia 11 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. http://purl.obolibrary.org/obo/DOID_0061239 Stargardt disease 4 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina and has_material_basis_in heterozygous mutation in the prominin-1 gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_4195 hyperglycemia http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease http://purl.obolibrary.org/obo/DOID_0111805 syndromic microphthalmia 6 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. http://purl.obolibrary.org/obo/DOID_0061240 Stargardt disease 5 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by onset of macular dystrophy in the fifth decade of life, with mildly reduced visual acuity and normal amplitudes on electroretinography and has_material_basis_in homozygous mutation in the RDH8 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_10603 glucose intolerance http://purl.obolibrary.org/obo/DOID_4195 hyperglycemia http://purl.obolibrary.org/obo/DOID_0111806 syndromic microphthalmia 5 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. http://purl.obolibrary.org/obo/DOID_0061241 Stargardt disease 1 http://purl.obolibrary.org/obo/DOID_0050817 Stargardt disease A stargardt disease that is characterized by juvenile-onset macular dystrophy with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks, defined as lipofuscin deposits, around the macula and/or in the central and near-peripheral areas of the retina and has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. http://purl.obolibrary.org/obo/DOID_11669 hypertrichosis of eyelid http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/DOID_0111807 syndromic microphthalmia 9 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. http://purl.obolibrary.org/obo/DOID_0061242 glucocorticoid deficiency 2 http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the MRAP gene, encoding melanocortin-2 receptor accessory protein, on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_929 myopathy of extraocular muscle http://purl.obolibrary.org/obo/DOID_423 myopathy http://purl.obolibrary.org/obo/DOID_0111808 linear skin defects with multiple congenital anomalies 1 http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_0111809 syndromic microphthalmia 2 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_0061243 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NNT gene on chromosome 5p12. http://purl.obolibrary.org/obo/DOID_10989 conjunctival vascular disease http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/DOID_0111811 syndromic microphthalmia 13 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0061244 glucocorticoid deficiency 5 http://purl.obolibrary.org/obo/DOID_0080620 familial glucocorticoid deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the TXNRD2 gene on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_11653 conjunctival deposit http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/DOID_0111812 syndromic microphthalmia 10 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. http://purl.obolibrary.org/obo/DOID_0061245 periventricular nodular heterotopia 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development that has_material_basis_in heterozygous mutation in the ARF1 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_1248 ocular hyperemia http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/DOID_0080669 posterior polymorphous corneal dystrophy 4 http://purl.obolibrary.org/obo/DOID_0060457 posterior polymorphous corneal dystrophy A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. http://purl.obolibrary.org/obo/DOID_0061246 periventricular nodular heterotopia 9 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A periventricular nodular heterotopia characterized as a malformation of cortical development that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_14043 neonatal myasthenia gravis http://purl.obolibrary.org/obo/DOID_437 myasthenia gravis http://purl.obolibrary.org/obo/DOID_0080670 Meesmann corneal dystrophy 1 http://purl.obolibrary.org/obo/DOID_0060451 Meesmann corneal dystrophy A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0070668 Snijders Blok-Campeau syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with delayed speech acquisition, impaired intellectual development of variable severity, and hypotonia that has_material_basis_in heterozygous mutation in the CHD3 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/DOID_4448 macular degeneration http://purl.obolibrary.org/obo/DOID_0080671 Meesmann corneal dystrophy 2 http://purl.obolibrary.org/obo/DOID_0060451 Meesmann corneal dystrophy A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_4479 pseudohypoaldosteronism http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease http://purl.obolibrary.org/obo/SYMP_0000327 tetanic convulsion http://purl.obolibrary.org/obo/SYMP_0000596 convulsion A convulsion that is characterized by a tonic spasm (prolonged contraction of the muscles), without loss of consciousness and often associated with hypocalcemia. http://purl.obolibrary.org/obo/DOID_0080672 fibrochondrogenesis 1 http://purl.obolibrary.org/obo/DOID_0060465 fibrochondrogenesis A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_11671 hypotrichosis of eyelid http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/DOID_0080673 fibrochondrogenesis 2 http://purl.obolibrary.org/obo/DOID_0060465 fibrochondrogenesis A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. http://purl.obolibrary.org/obo/DOID_0060901 lymphoplasmacytic lymphoma http://purl.obolibrary.org/obo/DOID_707 B-cell lymphoma A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. http://purl.obolibrary.org/obo/DOID_11240 appendiceal neoplasm http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm http://purl.obolibrary.org/obo/DOID_0080674 luminal breast carcinoma B http://purl.obolibrary.org/obo/DOID_3459 breast carcinoma A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. http://purl.obolibrary.org/obo/DOID_0060902 Norman-Roberts syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_7505 small intestine benign neoplasm http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm http://purl.obolibrary.org/obo/DOID_0080675 Stickler syndrome 2 http://purl.obolibrary.org/obo/DOID_0080046 Stickler syndrome A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0080180 Zika virus congenital syndrome http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus (Orthoflavivirus zikaense) infection in utero. http://purl.obolibrary.org/obo/DOID_11382 corneal neovascularization http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/DOID_0080676 Stickler syndrome 1 http://purl.obolibrary.org/obo/DOID_0080046 Stickler syndrome A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0080181 PHARC syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. http://purl.obolibrary.org/obo/DOID_11871 macular keratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/DOID_0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. http://purl.obolibrary.org/obo/DOID_0080182 mixed fibrolamellar hepatocellular carcinoma http://purl.obolibrary.org/obo/DOID_5015 fibrolamellar carcinoma A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. http://purl.obolibrary.org/obo/DOID_12196 superficial keratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/DOID_0080678 mucolipidosis III gamma http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that has_material_basis_in Coronavirus. http://purl.obolibrary.org/obo/DOID_13626 photokeratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/DOID_0080679 neuronal intestinal dysplasia type A http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. http://purl.obolibrary.org/obo/DOID_0080602 benign teratoma http://purl.obolibrary.org/obo/DOID_0080601 germ cell benign neoplasm A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/DOID_0080680 neuronal intestinal dysplasia type B http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. http://purl.obolibrary.org/obo/NCIT_C163032 Botulinum Toxin http://purl.obolibrary.org/obo/CHEBI_27026 toxin A biological toxin that is botulinum toxin, caused by a toxin made by a bacterium called Clostridium botulinum. http://purl.obolibrary.org/obo/DOID_9858 deep keratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/DOID_0080681 X-linked chronic idiopathic intestinal pseudo-obstruction http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0070368 autosomal recessive chronic granulomatous disease 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_10661 mediastinum ganglioneuroblastoma http://purl.obolibrary.org/obo/DOID_4691 malignant mediastinal neurogenic neoplasm http://purl.obolibrary.org/obo/DOID_0080682 autosomal dominant familial visceral neuropathy http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. http://purl.obolibrary.org/obo/DOID_0081328 familial hyperinsulinemic hypoglycemia 8 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. http://purl.obolibrary.org/obo/DOID_12064 mediastinum neurofibroma http://purl.obolibrary.org/obo/DOID_962 neurofibroma http://purl.obolibrary.org/obo/DOID_0080683 nonsyndromic congenital nail disorder http://purl.obolibrary.org/obo/DOID_4123 nail disease A nail disease that is characterized by underdevelopment of nails. http://purl.obolibrary.org/obo/DOID_0081331 glycogen storage disease Ic http://purl.obolibrary.org/obo/DOID_0081329 glycogen storage disease I A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. http://purl.obolibrary.org/obo/DOID_11132 prostatic hypertrophy http://purl.obolibrary.org/obo/DOID_47 prostate disease http://purl.obolibrary.org/obo/DOID_0080684 diffuse midline glioma, H3 K27-altered http://purl.obolibrary.org/obo/DOID_3070 high grade glioma A histone mutated tumor that is characterized by loss of histone H3 p.K28me3 (K27me3) methylation and located throughout the midline structures of the central nervous system. Methylation loss may be due to p.K28M (K27M) mutation in one of the histone H3 isoforms (H3.1, H3.2, or H3.3), overexpression of EZHIP, or mutation of the EGFR gene. http://purl.obolibrary.org/obo/DOID_0081413 renal cell carcinoma with MiT translocations http://purl.obolibrary.org/obo/DOID_4450 renal cell carcinoma A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. http://purl.obolibrary.org/obo/DOID_13689 prostate calculus http://purl.obolibrary.org/obo/DOID_9590 lower urinary tract calculus http://purl.obolibrary.org/obo/DOID_0080685 aortic dissection http://purl.obolibrary.org/obo/DOID_520 aortic disease An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. http://purl.obolibrary.org/obo/DOID_0081399 autosomal dominant distal hereditary motor neuronopathy 10 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_14654 prostatitis http://purl.obolibrary.org/obo/DOID_47 prostate disease http://purl.obolibrary.org/obo/DOID_0080686 tubular aggregate myopathy 2 http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0081445 sickle cell disease http://purl.obolibrary.org/obo/DOID_620 blood protein disease A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). http://purl.obolibrary.org/obo/DOID_4203 brain stem cancer http://purl.obolibrary.org/obo/DOID_4706 infratentorial cancer http://purl.obolibrary.org/obo/DOID_0080687 reducing body myopathy 1B http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0081446 dimethylglycine dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH gene on chromosome 5q14. http://purl.obolibrary.org/obo/DOID_14066 acute diffuse nephritis http://purl.obolibrary.org/obo/DOID_4781 diffuse glomerulonephritis http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. http://purl.obolibrary.org/obo/DOID_0081447 cone-rod dystrophy 21 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_10835 chylocele of tunica vaginalis http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_0080689 mosaic variegated aneuploidy syndrome 3 http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. http://purl.obolibrary.org/obo/DOID_0070553 focal palmoplantar and gingival keratosis http://purl.obolibrary.org/obo/DOID_3390 palmoplantar keratosis A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva. http://purl.obolibrary.org/obo/DOID_11997 spermatocele http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_0080691 Noonan syndrome-like disorder with loose anagen hair http://purl.obolibrary.org/obo/DOID_0080690 RASopathy A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. http://purl.obolibrary.org/obo/DOID_0080692 Noonan syndrome-like disorder with loose anagen hair 1 http://purl.obolibrary.org/obo/DOID_0080691 Noonan syndrome-like disorder with loose anagen hair A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. http://purl.obolibrary.org/obo/DOID_0060975 polycystic liver disease 2 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. http://purl.obolibrary.org/obo/DOID_12333 male genital organ stricture http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_0080693 Noonan syndrome-like disorder with loose anagen hair 2 http://purl.obolibrary.org/obo/DOID_0080691 Noonan syndrome-like disorder with loose anagen hair A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_0060977 polycystic liver disease 4 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_12335 male genital organ vascular disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. http://purl.obolibrary.org/obo/DOID_0070548 primary pigmented nodular adrenocortical disease 3 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3. http://purl.obolibrary.org/obo/DOID_12336 male infertility http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_0080695 Burn-McKeown syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature. http://purl.obolibrary.org/obo/DOID_0070555 Nagashima-type palmoplantar keratosis http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33. http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. http://purl.obolibrary.org/obo/DOID_0081455 auto-brewery syndrome http://purl.obolibrary.org/obo/DOID_0060158 acquired metabolic disease An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. http://purl.obolibrary.org/obo/DOID_47 prostate disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_0111860 AMME complex http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. http://purl.obolibrary.org/obo/DOID_0081456 bladder fermentation syndrome http://purl.obolibrary.org/obo/DOID_0060158 acquired metabolic disease An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. http://purl.obolibrary.org/obo/DOID_9365 vesiculitis http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_13839 extrapyramidal and movement disease http://purl.obolibrary.org/obo/DOID_480 movement disease http://purl.obolibrary.org/obo/DOID_1713 benign shuddering attacks http://purl.obolibrary.org/obo/DOID_480 movement disease http://purl.obolibrary.org/obo/DOID_0111861 Meester-Loeys syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0081457 intrathyroid thymic carcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. http://purl.obolibrary.org/obo/DOID_14463 cavernous hemangioma of orbit http://purl.obolibrary.org/obo/DOID_483 cavernous hemangioma http://purl.obolibrary.org/obo/DOID_0111862 congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/DOID_12336 male infertility A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. http://purl.obolibrary.org/obo/DOID_0081458 thyroid gland cribriform morular carcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. http://purl.obolibrary.org/obo/DOID_14491 regional ureteric cancer http://purl.obolibrary.org/obo/DOID_4939 ureter carcinoma http://purl.obolibrary.org/obo/DOID_0111863 X-linked congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/DOID_0111862 congenital bilateral absence of vas deferens A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. http://purl.obolibrary.org/obo/DOID_0081461 thyroid gland spindle epithelial tumor with thymus-like elements http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. http://purl.obolibrary.org/obo/DOID_12424 thyrocalcitonin secretion disease http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease http://purl.obolibrary.org/obo/DOID_0111864 autosomal recessive congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/DOID_0111862 congenital bilateral absence of vas deferens A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. http://purl.obolibrary.org/obo/DOID_0060987 preaxial polydactyly I http://purl.obolibrary.org/obo/DOID_1148 polydactyly A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_12837 thyroid crisis http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease http://purl.obolibrary.org/obo/DOID_0111865 MEND syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0070601 autosomal dominant nonsyndromic deafness 37 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1. http://purl.obolibrary.org/obo/DOID_0060993 bent bone dysplasia syndrome 2 http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy http://purl.obolibrary.org/obo/DOID_0111866 trichothiodystrophy A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation. http://purl.obolibrary.org/obo/DOID_0070614 chromosome 11 partial duplication syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11. http://purl.obolibrary.org/obo/DOID_1660 malignant pineal area germ cell neoplasm http://purl.obolibrary.org/obo/DOID_5032 pineal gland cancer http://purl.obolibrary.org/obo/DOID_0111868 nonphotosensitive trichothiodystrophy 5 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_0051092 Damseh-Danson neurodevelopmental disorder http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disability that is characterized by global developmental delay apparent from infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the SNX27 gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_1108 esophagus melanoma http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer http://purl.obolibrary.org/obo/DOID_0111869 photosensitive trichothiodystrophy 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. http://purl.obolibrary.org/obo/DOID_0051093 retinitis pigmentosa 102 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and loss of peripheral vision in adolescence, and eventual reduction in visual acuity with progression of disease and that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_14018 alcoholic liver cirrhosis http://purl.obolibrary.org/obo/DOID_0070658 alcohol-associated liver disease http://purl.obolibrary.org/obo/DOID_0111870 nonphotosensitive trichothiodystrophy 7 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. http://purl.obolibrary.org/obo/DOID_0051094 retinitis pigmentosa 103 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-1 gene on chromosome 15q23. http://purl.obolibrary.org/obo/DOID_10964 cholesteatoma of middle ear http://purl.obolibrary.org/obo/DOID_869 cholesteatoma http://purl.obolibrary.org/obo/DOID_0111871 photosensitive trichothiodystrophy 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. http://purl.obolibrary.org/obo/DOID_0051095 retinitis pigmentosa 104 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_5100 middle ear disease http://purl.obolibrary.org/obo/DOID_0111872 nonphotosensitive trichothiodystrophy 6 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. http://purl.obolibrary.org/obo/DOID_0051096 retinitis pigmentosa 105 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-8 gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_14032 malignant parietal pleura tumor http://purl.obolibrary.org/obo/DOID_5158 pleural cancer http://purl.obolibrary.org/obo/DOID_0111873 photosensitive trichothiodystrophy 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/DOID_0051097 retinitis pigmentosa 106 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of night blindness and/or loss of peripheral vision in adolescence and that has_material_basis_in heterozygous mutation in the RNU6-9 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_14033 malignant visceral pleura tumor http://purl.obolibrary.org/obo/DOID_5158 pleural cancer http://purl.obolibrary.org/obo/DOID_0111874 Sabinas brittle hair syndrome http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. http://purl.obolibrary.org/obo/DOID_0051098 retinitis pigmentosa 107 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is charaterized by onset of RP ranging from the second decade to the sixth decade of life, with affected individuals experiencing night blindness, constriction of peripheral vision, and reduced visual acuity and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP20 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_14175 von Hippel-Lindau disease http://purl.obolibrary.org/obo/DOID_5241 hemangioblastoma http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. http://purl.obolibrary.org/obo/DOID_0051099 Paget disease of bone 7 http://purl.obolibrary.org/obo/DOID_5408 Paget disease of bone A Paget disease of bone that is characterized by persistent and long-lasting active bone resorption, resulting in severe skeletal deformities and high levels of serum alkaline phosphatase and bone turnover markers and that has_material_basis_in heterozygous mutation in the PFN1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_10486 intestinal atresia http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_0111876 linear skin defects with multiple congenital anomalies 3 http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0070758 primary ciliary dyskinesia 46 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia that has_material_basis_in homozygous mutation in the STK36 gene on chromosome 2q35. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/DOID_10607 tropical sprue http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_0111877 linear skin defects with multiple congenital anomalies 2 http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0070760 primary ciliary dyskinesia 47 and lissencephaly http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood and neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum, that has_material_basis_in homozygous mutation in the TP73 gene on chromosome 1p36. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/DOID_10611 protein-losing enteropathy http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_0111878 Diamond-Blackfan anemia 7 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. http://purl.obolibrary.org/obo/DOID_0070761 primary ciliary dyskinesia 48 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance, resulting from defects in the radial spokes and central pairs of microtubules in motile cilia that has_material_basis_in homozygous mutation in the NME5 gene on chromosome 5q31. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/DOID_1285 rectal disease http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_0111879 Diamond-Blackfan anemia 6 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. http://purl.obolibrary.org/obo/DOID_0070762 primary ciliary dyskinesia 49 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance and male infertility due to defective flagellar morphology and function that has_material_basis_in compound heterozygous mutation in the CFAP74 gene on chromosome 1p36. Situs abnormalities have not been reported. http://purl.obolibrary.org/obo/DOID_13248 mucocele of appendix http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_0111880 Diamond-Blackfan anemia 17 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/DOID_0070763 primary ciliary dyskinesia 50 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by chronic sinusitis, bronchitis, and male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella resulting from defects or loss of the inner dynein arms of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH7 gene on chromosome 2q32. http://purl.obolibrary.org/obo/DOID_13249 pneumatosis cystoides intestinalis http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_0111881 Diamond-Blackfan anemia 8 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. http://purl.obolibrary.org/obo/DOID_0070764 primary ciliary dyskinesia 51 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella, chronic rhinosinusitis and bronchitis, and recurrent upper and lower respiratory infections that has_material_basis_in homozygous or compound heterozygous mutation in the BRWD1 gene on chromosome 21q22. Situs abnormalities have been reported. http://purl.obolibrary.org/obo/DOID_13419 neurogenic bowel http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_0111882 Diamond-Blackfan anemia 12 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2. http://purl.obolibrary.org/obo/DOID_0070765 primary ciliary dyskinesia 52 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects that has_material_basis_in homozygous or compound heterozygous mutation in the DAW1 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_3646 necrosis of pituitary http://purl.obolibrary.org/obo/DOID_53 pituitary gland disease http://purl.obolibrary.org/obo/DOID_0111883 Diamond-Blackfan anemia 5 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_0111884 Diamond-Blackfan anemia 9 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. http://purl.obolibrary.org/obo/DOID_0070766 primary ciliary dyskinesia 53 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by randomization of the left-right body asymmetry and respiratory symptoms that has_material_basis_in homozygous mutation in the CLXN gene on chromosome 8q11. http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/DOID_0111885 Diamond-Blackfan anemia 2 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. http://purl.obolibrary.org/obo/DOID_0070767 primary ciliary dyskinesia 54 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by a mild respiratory phenotype including rhinitis, sinusitis, asthma, and bronchiectasis that has_material_basis_in compound heterozygous mutation in the CFAP54 gene on chromosome 12q23. Some abnormalities of spermatozoa have been reported, but their effect on male fertility is unclear. http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/DOID_0111886 Diamond-Blackfan anemia 19 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_0070768 peri-implant disease http://purl.obolibrary.org/obo/DOID_3388 periodontal disease A periodontal disease affecting the structures surrounding and supporting dental implants. http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/DOID_0111887 Diamond-blackfan anemia 3 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. http://purl.obolibrary.org/obo/DOID_12514 retinal perforation http://purl.obolibrary.org/obo/DOID_5327 retinal detachment http://purl.obolibrary.org/obo/DOID_0070769 peri-implant mucositis http://purl.obolibrary.org/obo/DOID_0070768 peri-implant disease A peri-implant disease characterised by clinical signs of inflammation without loss of supporting bone. http://purl.obolibrary.org/obo/DOID_0111888 Diamond-Blackfan anemia 10 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2. http://purl.obolibrary.org/obo/DOID_11189 pulp degeneration http://purl.obolibrary.org/obo/DOID_5330 dental pulp disease http://purl.obolibrary.org/obo/DOID_0070770 peri-implantitis http://purl.obolibrary.org/obo/DOID_0070768 peri-implant disease A peri-implant disease characterized by inflammation in the peri-implant mucosa and progressive loss of supporting bone. http://purl.obolibrary.org/obo/DOID_0111889 Diamond-Blackfan anemia 13 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. http://purl.obolibrary.org/obo/DOID_10655 lipoma of colon http://purl.obolibrary.org/obo/DOID_6460 large intestine lipoma http://purl.obolibrary.org/obo/DOID_0070771 gingival fibromatosis 1 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_0111890 Diamond-Blackfan anemia 4 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. http://purl.obolibrary.org/obo/DOID_10656 colon leiomyoma http://purl.obolibrary.org/obo/DOID_5353 colonic disease http://purl.obolibrary.org/obo/DOID_0070772 gingival fibromatosis 2 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in variation in a region on chromosome 5q13-q22. http://purl.obolibrary.org/obo/DOID_0111891 Diamond-Blackfan anemia 20 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. http://purl.obolibrary.org/obo/DOID_11371 functional diarrhea http://purl.obolibrary.org/obo/DOID_5353 colonic disease http://purl.obolibrary.org/obo/DOID_0070773 gingival fibromatosis 3 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis characterized by gingival overgrowth in early childhood at the time of tooth eruption that has_material_basis_in variation in a region on chromosome 2p23.3-p22.3. http://purl.obolibrary.org/obo/DOID_0111892 Diamond-Blackfan anemia 11 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_13135 exophthalmic ophthalmoplegia http://purl.obolibrary.org/obo/DOID_539 ophthalmoplegia http://purl.obolibrary.org/obo/DOID_0070774 gingival fibromatosis 4 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in variation in a region on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0111893 Diamond-Blackfan anemia 16 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_0070775 gingival fibromatosis 6 http://purl.obolibrary.org/obo/DOID_0060466 gingival fibromatosis A gingival fibromatosis that has_material_basis_in heterozygous mutation in the ZNF862 gene on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_1143 exotropia http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_0070776 impaired intellectual development and distinctive facial features with or without cardiac defects http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by mild-to-profound developmental delay, intellectual disability, speech delay, hypotonia, variable congenital heart defects, and distinctive dysmorphic facial features including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia that has_material_basis_in heterozygous mutation in the MED13L gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0111895 Diamond-Blackfan anemia 1 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_12445 conjugate gaze palsy http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_0070777 syndromic X-linked intellectual developmental disorder, Snijders Blok type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioral problems that has_material_basis_in heterozygous or hemizygous mutation in the DDX3X gene on Xp11. It occurs predominantly in females. http://purl.obolibrary.org/obo/DOID_0111896 Diamond-Blackfan anemia 18 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/DOID_12667 binocular vision disease http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_0070778 hormone receptor-negative/HER2-positive breast cancer http://purl.obolibrary.org/obo/DOID_0070785 hormone receptor-negative breast cancer A HER2 positive breast cancer characterized by excess HER2 (ERBB2) protein and the absence of both the estrogen and progesterone receptors. http://purl.obolibrary.org/obo/DOID_0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_9306 mechanical strabismus http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_0070779 hormone receptor-positive/HER2-positive breast cancer http://purl.obolibrary.org/obo/DOID_0070784 hormone receptor-positive breast cancer A HER2 positive breast cancer characterized by excess HER2 (ERBB2) protein and at least one of the estrogen or progesterone receptors. http://purl.obolibrary.org/obo/DOID_0080912 cerebrooculofacioskeletal syndrome 2 http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_12679 nephrocalcinosis http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_0070780 hormone receptor-positive/HER2-negative breast cancer http://purl.obolibrary.org/obo/DOID_0070784 hormone receptor-positive breast cancer A HER2 negative breast cancer characterized by at least one of the estrogen or progesterone receptors and the absence of HER2 (EBBR2) protein. http://purl.obolibrary.org/obo/DOID_0112281 spondyloepiphyseal dysplasia Stanescu type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. http://purl.obolibrary.org/obo/DOID_13068 renal osteodystrophy http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_0070781 HER2-low breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by low levels of HER2 (EBBR2) protein. http://purl.obolibrary.org/obo/DOID_0112254 hepatic venoocclusive disease with immunodeficiency http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. http://purl.obolibrary.org/obo/DOID_2744 pyelitis http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_0070782 HER2-ultralow breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by very low, but detectable, levels of HER2 (EBBR2) protein. http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is comprised of a shortage of a nutrient. http://purl.obolibrary.org/obo/DOID_3116 kidney benign neoplasm http://purl.obolibrary.org/obo/DOID_731 urinary system benign neoplasm http://purl.obolibrary.org/obo/SYMP_0000540 painful respiration http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a feeling of discomfort when breathing in or out. The pain may be the result of infection, musculoskeletal injury, and heart problems. http://purl.obolibrary.org/obo/DISDRIV_0000002 socioeconomic driver http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is related to or concerning the interaction of social and economic factors. http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/SYMP_0000833 visceral pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by originating from organ tissues of the thorax, abdomen, or pelvis. It characterizes as deep, vague, and difficult to locate pain, that radiates away from the affected organ. http://purl.obolibrary.org/obo/DISDRIV_0000003 biological driver http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is of biological origin. http://purl.obolibrary.org/obo/DOID_12098 trigeminal neuralgia http://purl.obolibrary.org/obo/DOID_561 trigeminal nerve disease http://purl.obolibrary.org/obo/SYMP_0000132 necrosis http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Necrosis is a general symptom where death of a portion of tissue differentially affected by local injury (as loss of blood supply, corrosion, burning, or the local lesion of a disease). http://purl.obolibrary.org/obo/DISDRIV_0000004 deficiency of biotin http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency A nutrient deficiency of vitamin B7 (biotin) foods like eggs, milk, and bananas. http://purl.obolibrary.org/obo/DOID_1140 spinal canal and spinal cord meningioma http://purl.obolibrary.org/obo/DOID_5612 spinal cancer http://purl.obolibrary.org/obo/SYMP_0000673 bradykinesia http://purl.obolibrary.org/obo/SYMP_0000858 hypokinesia Bradykinesia is a hypokinesia characterized by an extreme slowness in the execution of movements and reflexes. http://purl.obolibrary.org/obo/DISDRIV_0000005 deficiency of choline http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency A nutrient deficiency of choline. http://purl.obolibrary.org/obo/DOID_13742 neurofibroma of spinal cord http://purl.obolibrary.org/obo/DOID_962 neurofibroma http://purl.obolibrary.org/obo/SYMP_0000623 acute renal failure http://purl.obolibrary.org/obo/SYMP_0000731 renal failure A renal failure that is characterized by a severe and sudden onset of renal failure. http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is a chemical. http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/DOID_0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy. http://purl.obolibrary.org/obo/DISDRIV_0000007 deficiency of vitamin C http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency A nutrient deficiency of vitamin C. http://purl.obolibrary.org/obo/DOID_238 pupil disease http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_0070353 cataract 47 http://purl.obolibrary.org/obo/DOID_83 cataract A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. http://purl.obolibrary.org/obo/SYMP_0020045 balance symptom http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by any of the following: dizziness or vertigo (a spinning sensation); falling or feeling as if you are going to fall; staggering when walking; lightheadedness, faintness, or a floating sensation; and confusion or disorientation. http://purl.obolibrary.org/obo/DOID_790 ocular hypotension http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_0070354 cataract 48 http://purl.obolibrary.org/obo/DOID_83 cataract A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. http://purl.obolibrary.org/obo/DOID_0081334 Nestor-Guillermo progeria syndrome http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_0070356 visual impairment and progressive phthisis bulbi http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. http://purl.obolibrary.org/obo/DOID_0081362 Pierpont syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_8886 chorioretinitis http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_0070357 nephrotic syndrome type 20 http://purl.obolibrary.org/obo/DOID_2590 familial nephrotic syndrome A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. http://purl.obolibrary.org/obo/DOID_0081341 congenital myopathy 5 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_0080652 calcium oxalate nephrolithiasis http://purl.obolibrary.org/obo/DOID_585 nephrolithiasis A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0070523 peeling skin syndrome 4 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_0080653 urolithiasis http://purl.obolibrary.org/obo/DOID_18 urinary system disease A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract. http://purl.obolibrary.org/obo/DOID_0070530 foveal hypoplasia 1 http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. http://purl.obolibrary.org/obo/DOID_9835 refractive error http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_0080654 uric acid urolithiasis http://purl.obolibrary.org/obo/DOID_0080653 urolithiasis An urolithiasis in which the composition of the stones is predominantly urate. http://purl.obolibrary.org/obo/DOID_0070524 peeling skin syndrome 5 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. http://purl.obolibrary.org/obo/DOID_11550 oculomotor nerve paralysis http://purl.obolibrary.org/obo/DOID_562 third cranial nerve disease http://purl.obolibrary.org/obo/DOID_0080655 hypophosphatemic nephrolithiasis/osteoporosis http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease that is characterized by formation of renal calcium stones or bone demineralization. http://purl.obolibrary.org/obo/DOID_0081411 B-lymphoblastic leukemia with PAX5 p.P80R http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. http://purl.obolibrary.org/obo/DOID_13864 trochlear nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/DOID_0080656 45,X/46,XY mixed gonadal dysgenesis http://purl.obolibrary.org/obo/DOID_14449 mixed gonadal dysgenesis A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. http://purl.obolibrary.org/obo/DOID_0081453 Dent disease 1 http://purl.obolibrary.org/obo/DOID_0050699 Dent disease A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. http://purl.obolibrary.org/obo/DOID_561 trigeminal nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/DOID_0111742 cerebellar ataxia type 42 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_562 third cranial nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/DOID_0111743 cerebellar ataxia type 47 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. http://purl.obolibrary.org/obo/DOID_14165 bilateral hyperactive labyrinth http://purl.obolibrary.org/obo/DOID_566 labyrinthine dysfunction http://purl.obolibrary.org/obo/DOID_0081454 Dent disease 2 http://purl.obolibrary.org/obo/DOID_0050699 Dent disease A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0111744 cerebellar ataxia type 41 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. http://purl.obolibrary.org/obo/DOID_14413 labyrinthine bilateral reactive loss http://purl.obolibrary.org/obo/DOID_566 labyrinthine dysfunction http://purl.obolibrary.org/obo/DOID_0060948 Ullrich congenital muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. http://purl.obolibrary.org/obo/DOID_0111745 cerebellar ataxia type 43 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. http://purl.obolibrary.org/obo/DOID_11086 chorioretinal scar http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_0060953 ZTTK syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0111746 cerebellar ataxia type 48 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_11561 hypertensive retinopathy http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_0060958 orofaciodigital syndrome XIV http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0111747 cerebellar ataxia type 9 http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. http://purl.obolibrary.org/obo/DOID_13025 retinopathy of prematurity http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. http://purl.obolibrary.org/obo/DOID_0111748 mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. http://purl.obolibrary.org/obo/DOID_13401 angioid streaks http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common. http://purl.obolibrary.org/obo/DOID_0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. http://purl.obolibrary.org/obo/DOID_14000 rubeosis iridis http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_0070590 spermatogenic failure 91 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_0111750 adult-onset ataxia and polyneuropathy http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. http://purl.obolibrary.org/obo/DOID_3612 retinitis http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_0061002 congenital amegakaryocytic thrombocytopenia 2 http://purl.obolibrary.org/obo/DOID_0090118 congenital amegakaryocytic thrombocytopenia A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_0111751 mitochondrial nonsyndromic sensorineural deafness http://purl.obolibrary.org/obo/DOID_10003 sensorineural hearing loss A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. http://purl.obolibrary.org/obo/DOID_5327 retinal detachment http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/SYMP_0000537 cyanosis http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by a bluish or purplish discoloration (as of skin) due to deficient oxygenation of the blood. http://purl.obolibrary.org/obo/DOID_0111752 autosomal-mitochondrial sensorineural deafness http://purl.obolibrary.org/obo/DOID_10003 sensorineural hearing loss A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. http://purl.obolibrary.org/obo/DOID_11831 cortical blindness http://purl.obolibrary.org/obo/DOID_5691 visual cortex disease http://purl.obolibrary.org/obo/SYMP_0000219 receptive aphasia http://purl.obolibrary.org/obo/SYMP_0000215 inability to comprehend speech An inability to comprehend speech that is characterized by an inability to understand spoken, written, or tactile speech symbols that results from damage (as by a brain lesion) to an area of the brain (as Wernicke's area) concerned with language. http://purl.obolibrary.org/obo/DOID_0111753 infantile hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/DOID_11984 hypertrophic cardiomyopathy A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. http://purl.obolibrary.org/obo/DOID_12168 ulnar nerve lesion http://purl.obolibrary.org/obo/DOID_572 mononeuritis of upper limb and mononeuritis multiplex http://purl.obolibrary.org/obo/SYMP_0000682 altered mental status http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by a host of presentations that include changes in cognition, mood, behavior, and/or level of arousal. http://purl.obolibrary.org/obo/DOID_0111754 Leber plus disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. http://purl.obolibrary.org/obo/DOID_10627 primary optic atrophy http://purl.obolibrary.org/obo/DOID_5723 optic atrophy http://purl.obolibrary.org/obo/SYMP_0000823 sinus bradycardia http://purl.obolibrary.org/obo/SYMP_0000231 bradycardia Sinus bradycardia is a bradycardia where the sinus rhythm is abnormally slow bradycardia consisting of a sinus rhythm at a rate lower than 60 beats per minute. http://purl.obolibrary.org/obo/DOID_0111755 Leber hereditary optic neuropathy and dystonia http://purl.obolibrary.org/obo/DOID_0111754 Leber plus disease A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. http://purl.obolibrary.org/obo/DOID_10631 partial optic atrophy http://purl.obolibrary.org/obo/DOID_5723 optic atrophy http://purl.obolibrary.org/obo/SYMP_0000242 cough with bloody sputum http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by production and expectoration (bringing up) of sputum that is bright red or pink and frothy. http://purl.obolibrary.org/obo/DOID_0111756 Leber hereditary optic neuropathy with demyelinating disease of CNS http://purl.obolibrary.org/obo/DOID_0111754 Leber plus disease A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system. http://purl.obolibrary.org/obo/DOID_10973 acute salpingitis http://purl.obolibrary.org/obo/DOID_5733 salpingitis http://purl.obolibrary.org/obo/TRANS_0000010 vehicle-borne transmission http://purl.obolibrary.org/obo/TRANS_0000002 indirect transmission Vehicle-borne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by inanimate intermediary vehicle objects. http://purl.obolibrary.org/obo/DOID_0111757 Y-linked deafness http://purl.obolibrary.org/obo/DOID_0050738 Y-linked monogenic disease A nonsyndromic deafness characterized by a Y-lnked inheritance mode. http://purl.obolibrary.org/obo/DOID_5731 chronic salpingitis http://purl.obolibrary.org/obo/DOID_5733 salpingitis http://purl.obolibrary.org/obo/DOID_0081009 Bardet-Biedl syndrome 20 http://purl.obolibrary.org/obo/DOID_1935 Bardet-Biedl syndrome A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_0111758 Y-linked deafness 2 http://purl.obolibrary.org/obo/DOID_0111757 Y-linked deafness A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. http://purl.obolibrary.org/obo/DOID_13913 lumbosacral plexus lesion http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease http://purl.obolibrary.org/obo/DOID_0070336 arthrogryposis multiplex congenita-6 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. http://purl.obolibrary.org/obo/DOID_0111759 Y-linked deafness 1 http://purl.obolibrary.org/obo/DOID_0111757 Y-linked deafness A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. http://purl.obolibrary.org/obo/DOID_573 nerve compression syndrome http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease http://purl.obolibrary.org/obo/DOID_0081126 DeSanto-Shinawi syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. http://purl.obolibrary.org/obo/DOID_11217 chronic tympanitis http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_0081127 mandibuloacral dysplasia http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. http://purl.obolibrary.org/obo/DOID_0111761 46,XX sex reversal 1 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. http://purl.obolibrary.org/obo/DOID_1214 tympanosclerosis http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_0081128 mandibuloacral dysplasia type A lipodystrophy http://purl.obolibrary.org/obo/DOID_0081127 mandibuloacral dysplasia A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. http://purl.obolibrary.org/obo/DOID_0111762 46,XX sex reversal 3 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_12546 atrophic nonflaccid tympanic membrane http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_0081129 mandibuloacral dysplasia type B lipodystrophy http://purl.obolibrary.org/obo/DOID_0081127 mandibuloacral dysplasia A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. http://purl.obolibrary.org/obo/DOID_0111763 46,XX sex reversal 2 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. http://purl.obolibrary.org/obo/DOID_0111764 46,XX sex reversal 4 http://purl.obolibrary.org/obo/DOID_0111760 46,XX sex reversal A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_13790 acute tympanitis http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_0081130 BH4-deficient hyperphenylalaninemia C http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_0111765 X-linked cardiac valvular dysplasia http://purl.obolibrary.org/obo/DOID_4079 heart valve disease A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_2860 hemoglobinopathy http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia http://purl.obolibrary.org/obo/DOID_0081131 BH4-deficient hyperphenylalaninemia D http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0111766 X-linked VACTERL association http://purl.obolibrary.org/obo/DOID_14679 VACTERL association A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_14534 malignant cardiac peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/DOID_5940 malignant peripheral nerve sheath tumor http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. http://purl.obolibrary.org/obo/DOID_0111767 X-linked thrombocytopenia with beta-thalassemia http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_14172 rheumatic congestive heart failure http://purl.obolibrary.org/obo/DOID_6000 congestive heart failure http://purl.obolibrary.org/obo/DOID_0081133 3-methylglutaconic aciduria type 7a http://purl.obolibrary.org/obo/DOID_0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0111768 X-linked properdin deficiency http://purl.obolibrary.org/obo/DOID_626 complement deficiency A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_10485 esophageal atresia http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/DOID_0081134 3-methylglutaconic aciduria type 7b http://purl.obolibrary.org/obo/DOID_0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0111769 46,XY sex reversal 6 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/DOID_112 esophageal varix http://purl.obolibrary.org/obo/DOID_866 vein disease http://purl.obolibrary.org/obo/DOID_0081135 agammaglobulinemia 2 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. http://purl.obolibrary.org/obo/DOID_0111770 46,XY sex reversal 9 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1. http://purl.obolibrary.org/obo/DOID_11963 esophagitis http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/DOID_0081136 agammaglobulinemia 1 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0111771 46,XY sex reversal 4 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. http://purl.obolibrary.org/obo/DOID_13185 esophageal diverticulosis http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/DOID_0081137 agammaglobulinemia 3 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_0081138 agammaglobulinemia 6 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0111772 46,XY sex reversal 3 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_13186 megaesophagus http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/DOID_0081139 agammaglobulinemia 7 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_0111773 46,XY sex reversal 8 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. http://purl.obolibrary.org/obo/DOID_0111774 46,XY sex reversal 7 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. http://purl.obolibrary.org/obo/DOID_11502 mitral valve insufficiency http://purl.obolibrary.org/obo/DOID_61 mitral valve disease http://purl.obolibrary.org/obo/DOID_0081140 agammaglobulinemia 8A http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0111775 46,XY sex reversal 10 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. http://purl.obolibrary.org/obo/DOID_11184 acute conjunctivitis http://purl.obolibrary.org/obo/DOID_6195 conjunctivitis http://purl.obolibrary.org/obo/DOID_0081141 agammaglobulinemia 9 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0081142 agammaglobulinemia 10 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0111776 46,XY sex reversal 5 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_2475 chronic conjunctivitis http://purl.obolibrary.org/obo/DOID_6195 conjunctivitis http://purl.obolibrary.org/obo/DOID_0081143 agammaglobulinemia 8B http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0111777 46,XY sex reversal 2 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. http://purl.obolibrary.org/obo/DOID_12451 sulfhemoglobinemia http://purl.obolibrary.org/obo/DOID_620 blood protein disease http://purl.obolibrary.org/obo/DOID_0081144 common variable immunodeficiency 1 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_0111778 46,XY sex reversal 1 http://purl.obolibrary.org/obo/DOID_14448 46,XY complete gonadal dysgenesis A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/DOID_633 myositis http://purl.obolibrary.org/obo/DOID_0081145 common variable immunodeficiency 2 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_0111779 X-linked panhypopituitarism http://purl.obolibrary.org/obo/DOID_0050735 X-linked monogenic disease A combined pituitary hormone deficiency that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. http://purl.obolibrary.org/obo/DOID_13042 persistent fetal circulation syndrome http://purl.obolibrary.org/obo/DOID_6432 pulmonary hypertension http://purl.obolibrary.org/obo/DOID_0081146 common variable immunodeficiency 3 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0111780 TARP syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_11949 Creutzfeldt-Jakob disease http://purl.obolibrary.org/obo/DOID_649 prion disease http://purl.obolibrary.org/obo/DOID_0081147 common variable immunodeficiency 4 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0111781 Waisman syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_11685 inflamed seborrheic keratosis http://purl.obolibrary.org/obo/DOID_6498 seborrheic keratosis http://purl.obolibrary.org/obo/DOID_0081148 common variable immunodeficiency 5 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_12105 inflammatory spondylopathy http://purl.obolibrary.org/obo/DOID_6590 spondylitis http://purl.obolibrary.org/obo/DOID_0081149 common variable immunodeficiency 6 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. http://purl.obolibrary.org/obo/DOID_0111783 otopalatodigital syndrome type 1 http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_13127 gonococcal spondylitis http://purl.obolibrary.org/obo/DOID_6590 spondylitis http://purl.obolibrary.org/obo/DOID_0081150 common variable immunodeficiency 7 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0111784 otopalatodigital syndrome type 2 http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_10991 basal ganglia cerebrovascular disease http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_0081151 common variable immunodeficiency 8 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. http://purl.obolibrary.org/obo/DOID_0111785 frontometaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. http://purl.obolibrary.org/obo/DOID_11390 cerebral arteritis http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_0081152 common variable immunodeficiency 10 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_13089 intracranial arterial disease http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_0111786 frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/DOID_0111785 frontometaphyseal dysplasia A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0081153 common variable immunodeficiency 11 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. http://purl.obolibrary.org/obo/DOID_13100 intracranial vasospasm http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_0111787 frontometaphyseal dysplasia 2 http://purl.obolibrary.org/obo/DOID_0111785 frontometaphyseal dysplasia A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_0081154 common variable immunodeficiency 12 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_5976 occlusion precerebral artery http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_0111788 Melnick-Needles syndrome http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0081155 common variable immunodeficiency 13 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. http://purl.obolibrary.org/obo/DOID_0081156 common variable immunodeficiency 14 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_14350 suppurative thyroiditis http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/DOID_0111789 Frank-Ter Haar syndrome http://purl.obolibrary.org/obo/DOID_0111782 otopalatodigital syndrome spectrum disorder An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. http://purl.obolibrary.org/obo/DOID_0081157 dilated cardiomyopathy 1LL http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_14351 Riedel's fibrosing thyroiditis http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/DOID_070355 multisystem proteinopathy http://purl.obolibrary.org/obo/DOID_231 motor neuron disease A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. http://purl.obolibrary.org/obo/DOID_0080690 RASopathy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. http://purl.obolibrary.org/obo/DOID_0081158 dilated cardiomyopathy 1MM http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_14353 acute thyroiditis http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/DOID_0111866 trichothiodystrophy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. http://purl.obolibrary.org/obo/DOID_0081159 dilated cardiomyopathy 2C http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_12577 urethral obstruction http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/DOID_0080779 plasmablastic lymphoma http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. http://purl.obolibrary.org/obo/DOID_0081160 dilated cardiomyopathy 2D http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_1343 urethritis http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/DOID_0080780 acute erythroid leukemia http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia that is characterized by a predominant immature erythroid population. http://purl.obolibrary.org/obo/DOID_0081161 dilated cardiomyopathy 2E http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_13461 urethral intrinsic sphincter deficiency http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/DOID_0112014 congenital megabladder http://purl.obolibrary.org/obo/DOID_365 bladder disease A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. http://purl.obolibrary.org/obo/DOID_0081162 dilated cardiomyopathy 2F http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_13498 urethral syndrome http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/DOID_0112015 immunodeficiency 72 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. http://purl.obolibrary.org/obo/DOID_0081163 dilated cardiomyopathy 2G http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. http://purl.obolibrary.org/obo/DOID_620 blood protein disease http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease http://purl.obolibrary.org/obo/DOID_0112016 non-syndromic X-linked intellectual disability 2 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. http://purl.obolibrary.org/obo/DOID_0081168 HMG-CoA synthase 2 deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. http://purl.obolibrary.org/obo/DOID_11223 small intestine diverticulitis http://purl.obolibrary.org/obo/DOID_7475 diverticulitis http://purl.obolibrary.org/obo/DOID_0112017 non-syndromic X-linked intellectual disability 73 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_0081169 Leber congenital amaurosis 19 http://purl.obolibrary.org/obo/DOID_14791 Leber congenital amaurosis A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. http://purl.obolibrary.org/obo/DOID_2529 splenic disease http://purl.obolibrary.org/obo/DOID_75 lymphatic system disease http://purl.obolibrary.org/obo/DOID_0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_9942 lymph node disease http://purl.obolibrary.org/obo/DOID_75 lymphatic system disease http://purl.obolibrary.org/obo/DOID_0112018 non-syndromic X-linked intellectual disability 104 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_0081176 hypotonia, ataxia, and delayed development syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_10808 gastric ulcer http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/DOID_0112019 non-syndromic X-linked intellectual disability 19 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/DOID_0081177 autosomal recessive intellectual developmental disorder 1 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. http://purl.obolibrary.org/obo/DOID_10927 gastrojejunal ulcer http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/DOID_0112020 non-syndromic X-linked intellectual disability 103 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. http://purl.obolibrary.org/obo/DOID_0081178 autosomal recessive intellectual developmental disorder 2 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26. http://purl.obolibrary.org/obo/DOID_1724 duodenal ulcer http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/DOID_0112021 non-syndromic X-linked intellectual disability ARX-related http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. http://purl.obolibrary.org/obo/DOID_0081179 autosomal recessive intellectual developmental disorder 3 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_1159 functional gastric disease http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_0112022 non-syndromic X-linked intellectual disability 21 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. http://purl.obolibrary.org/obo/DOID_0112023 non-syndromic X-linked intellectual disability 20 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. http://purl.obolibrary.org/obo/DOID_0081180 autosomal recessive intellectual developmental disorder 12 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_12070 Dieulafoy lesion http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_0112024 non-syndromic X-linked intellectual disability 58 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_0081181 autosomal recessive intellectual developmental disorder 5 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_12072 pylorospasm http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_0112025 female-restricted syndromic X-linked intellectual disability 99 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_0081182 autosomal recessive intellectual developmental disorder 6 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16. http://purl.obolibrary.org/obo/DOID_12234 cascade stomach http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_0112026 non-syndromic X-linked intellectual disability 99 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_0081183 autosomal recessive intellectual developmental disorder 7 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22. http://purl.obolibrary.org/obo/DOID_12642 hiatus hernia http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_0112027 non-syndromic X-linked intellectual disability 14 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. http://purl.obolibrary.org/obo/DOID_0081184 autosomal recessive intellectual developmental disorder 9/26 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus. http://purl.obolibrary.org/obo/DOID_3122 gastric outlet obstruction http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_0112028 non-syndromic X-linked intellectual disability 45 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. http://purl.obolibrary.org/obo/DOID_0081185 autosomal recessive intellectual developmental disorder 10/20 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus. http://purl.obolibrary.org/obo/DOID_0081186 autosomal recessive intellectual developmental disorder 11 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149. http://purl.obolibrary.org/obo/DOID_371 extracranial neuroblastoma http://purl.obolibrary.org/obo/DOID_769 neuroblastoma http://purl.obolibrary.org/obo/DOID_0112029 non-syndromic X-linked intellectual disability 50 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. http://purl.obolibrary.org/obo/DOID_0112030 non-syndromic X-linked intellectual disability 84 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. http://purl.obolibrary.org/obo/DOID_0112031 non-syndromic X-linked intellectual disability 89 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0081187 autosomal recessive intellectual developmental disorder 4 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3. http://purl.obolibrary.org/obo/DOID_4163 ganglioneuroblastoma http://purl.obolibrary.org/obo/DOID_769 neuroblastoma http://purl.obolibrary.org/obo/DOID_0081188 autosomal recessive intellectual developmental disorder 14 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0112032 non-syndromic X-linked intellectual disability 92 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0081189 autosomal recessive intellectual developmental disorder 16 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16. http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease http://purl.obolibrary.org/obo/DOID_0081190 autosomal recessive intellectual developmental disorder 18 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_0112033 non-syndromic X-linked intellectual disability 81 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. http://purl.obolibrary.org/obo/DOID_11527 laryngostenosis http://purl.obolibrary.org/obo/DOID_786 laryngeal disease http://purl.obolibrary.org/obo/DOID_0081191 autosomal recessive intellectual developmental disorder 31 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838. http://purl.obolibrary.org/obo/DOID_0112034 non-syndromic X-linked intellectual disability 9 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_11766 blind hypotensive eye http://purl.obolibrary.org/obo/DOID_790 ocular hypotension http://purl.obolibrary.org/obo/DOID_0081192 autosomal recessive intellectual developmental disorder 29 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392. http://purl.obolibrary.org/obo/DOID_0112035 non-syndromic X-linked intellectual disability 96 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_12349 primary eye hypotony http://purl.obolibrary.org/obo/DOID_790 ocular hypotension http://purl.obolibrary.org/obo/DOID_0081193 autosomal recessive intellectual developmental disorder 27 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_0112036 non-syndromic X-linked intellectual disability 105 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0112037 chromosome Xp11.22 duplication syndrome http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. http://purl.obolibrary.org/obo/DOID_12573 neonatal thyrotoxicosis http://purl.obolibrary.org/obo/DOID_7997 thyrotoxicosis http://purl.obolibrary.org/obo/DOID_0081194 autosomal recessive intellectual developmental disorder 33 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925. http://purl.obolibrary.org/obo/DOID_0112038 non-syndromic X-linked intellectual disability 1 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_0112039 non-syndromic X-linked intellectual disability 77 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. http://purl.obolibrary.org/obo/DOID_10719 toxic diffuse goiter http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism http://purl.obolibrary.org/obo/DOID_0081195 autosomal recessive intellectual developmental disorder 30 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. http://purl.obolibrary.org/obo/DOID_0081196 autosomal recessive intellectual developmental disorder 23 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421. http://purl.obolibrary.org/obo/DOID_0112040 non-syndromic X-linked intellectual disability 100 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0081197 autosomal recessive intellectual developmental disorder 24 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. http://purl.obolibrary.org/obo/DOID_11277 Plummer's disease http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism http://purl.obolibrary.org/obo/DOID_11269 chronic apical periodontitis http://purl.obolibrary.org/obo/DOID_823 periapical periodontitis http://purl.obolibrary.org/obo/DOID_0081198 autosomal recessive intellectual developmental disorder 25 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033. http://purl.obolibrary.org/obo/DOID_0112041 non-syndromic X-linked intellectual disability 90 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_11693 acute apical periodontitis http://purl.obolibrary.org/obo/DOID_823 periapical periodontitis http://purl.obolibrary.org/obo/DOID_0081199 autosomal recessive intellectual developmental disorder 28 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609. http://purl.obolibrary.org/obo/DOID_823 periapical periodontitis http://purl.obolibrary.org/obo/DOID_824 periodontitis http://purl.obolibrary.org/obo/DOID_0112042 Tonne-Kalscheuer syndrome http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. http://purl.obolibrary.org/obo/DOID_0081200 autosomal recessive intellectual developmental disorder 34 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22. http://purl.obolibrary.org/obo/DOID_0081201 autosomal recessive intellectual developmental disorder 35 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258. http://purl.obolibrary.org/obo/DOID_0112043 non-syndromic X-linked intellectual disability 91 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. http://purl.obolibrary.org/obo/DOID_11242 plethora of newborn http://purl.obolibrary.org/obo/DOID_8432 polycythemia http://purl.obolibrary.org/obo/DOID_0081202 autosomal recessive intellectual developmental disorder 37 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21. http://purl.obolibrary.org/obo/DOID_14495 dumping syndrome http://purl.obolibrary.org/obo/DOID_8439 postgastrectomy syndrome http://purl.obolibrary.org/obo/DOID_0112044 non-syndromic X-linked intellectual disability 98 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. http://purl.obolibrary.org/obo/DOID_0081203 autosomal recessive intellectual developmental disorder 38 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13. http://purl.obolibrary.org/obo/DOID_0112045 non-syndromic X-linked intellectual disability 93 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_12108 bullous retinoschisis http://purl.obolibrary.org/obo/DOID_8465 retinoschisis http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration http://purl.obolibrary.org/obo/DOID_0081204 autosomal recessive intellectual developmental disorder 39 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12. http://purl.obolibrary.org/obo/DOID_0112046 non-syndromic X-linked intellectual disability 97 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_8465 retinoschisis http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration http://purl.obolibrary.org/obo/DOID_0081205 autosomal recessive intellectual developmental disorder 40 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_0112047 non-syndromic X-linked intellectual disability 53 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. http://purl.obolibrary.org/obo/DOID_13094 branch retinal artery occlusion http://purl.obolibrary.org/obo/DOID_8483 retinal artery occlusion http://purl.obolibrary.org/obo/DOID_0081206 autosomal recessive intellectual developmental disorder 41 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0112048 non-syndromic X-linked intellectual disability 101 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. http://purl.obolibrary.org/obo/DOID_14522 partial arterial retinal occlusion http://purl.obolibrary.org/obo/DOID_8483 retinal artery occlusion http://purl.obolibrary.org/obo/DOID_0081207 autosomal recessive intellectual developmental disorder 43 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays. http://purl.obolibrary.org/obo/DOID_0112049 non-syndromic X-linked intellectual disability 23 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24. http://purl.obolibrary.org/obo/DOID_11874 abnormal threshold of rods http://purl.obolibrary.org/obo/DOID_8499 night blindness http://purl.obolibrary.org/obo/DOID_0081208 autosomal recessive intellectual developmental disorder 44 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0112050 non-syndromic X-linked intellectual disability 63 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. http://purl.obolibrary.org/obo/DOID_13227 retinal dystrophies primarily involving Bruch's membrane http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/DOID_0081209 autosomal recessive intellectual developmental disorder 45 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0112051 non-syndromic X-linked intellectual disability 30 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. http://purl.obolibrary.org/obo/DOID_14251 vitreoretinal dystrophy http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/DOID_0081210 autosomal recessive intellectual developmental disorder 46 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. http://purl.obolibrary.org/obo/DOID_0112052 non-syndromic X-linked intellectual disability 82 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25. http://purl.obolibrary.org/obo/DOID_14252 dystrophies primarily involving the retinal pigment epithelium http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/DOID_0081211 autosomal recessive intellectual developmental disorder 47 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43. http://purl.obolibrary.org/obo/DOID_0112053 non-syndromic X-linked intellectual disability 88 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_14253 retinal dystrophy in systemic or cerebroretinal lipidoses http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/DOID_0081212 autosomal recessive intellectual developmental disorder 48 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_11907 ecthyma http://purl.obolibrary.org/obo/DOID_8504 impetigo http://purl.obolibrary.org/obo/DOID_0112054 non-syndromic X-linked intellectual disability 107 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_0081213 autosomal recessive intellectual developmental disorder 50 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24. http://purl.obolibrary.org/obo/DOID_0081214 autosomal recessive intellectual developmental disorder 51 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. http://purl.obolibrary.org/obo/DOID_12326 chronic pulmonary heart disease http://purl.obolibrary.org/obo/DOID_8515 Cor pulmonale http://purl.obolibrary.org/obo/DOID_0081215 autosomal recessive intellectual developmental disorder 52 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_0112055 non-syndromic X-linked intellectual disability 46 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. http://purl.obolibrary.org/obo/DOID_0112056 X-linked intellectual disability-short stature-overweight syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. http://purl.obolibrary.org/obo/DOID_1203 drug-induced mental disorder http://purl.obolibrary.org/obo/DOID_8646 substance-induced psychosis http://purl.obolibrary.org/obo/DOID_0081216 autosomal recessive intellectual developmental disorder 54 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_0112057 non-syndromic X-linked intellectual disability 42 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_1195 ischemic neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy http://purl.obolibrary.org/obo/DOID_0112058 non-syndromic X-linked intellectual disability 41 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0081217 autosomal recessive intellectual developmental disorder 56 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_9743 diabetic neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy http://purl.obolibrary.org/obo/DOID_0112059 non-syndromic X-linked intellectual disability 72 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0081218 autosomal recessive intellectual developmental disorder 74 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. http://purl.obolibrary.org/obo/DOID_12731 pars planitis http://purl.obolibrary.org/obo/DOID_8886 chorioretinitis http://purl.obolibrary.org/obo/DOID_0112245 focal segmental glomerulosclerosis 3 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3. http://purl.obolibrary.org/obo/DOID_0081219 autosomal recessive intellectual developmental disorder 57 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_1979 focal chorioretinitis http://purl.obolibrary.org/obo/DOID_8886 chorioretinitis http://purl.obolibrary.org/obo/DOID_0081028 glycogen-rich carcinoma http://purl.obolibrary.org/obo/DOID_3458 breast adenocarcinoma A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. http://purl.obolibrary.org/obo/DOID_0081220 autosomal recessive intellectual developmental disorder 58 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_13207 proliferative diabetic retinopathy http://purl.obolibrary.org/obo/DOID_8947 diabetic retinopathy http://purl.obolibrary.org/obo/SYMP_0020022 bone conduction hyperacusis http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom An ear symptom - need proper definition - placeholder for xref. http://purl.obolibrary.org/obo/SYMP_0020024 bronchospasm http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by constriction of the air passages of the lung (as in asthma) by spasmodic contraction of the bronchial muscles. http://purl.obolibrary.org/obo/DOID_0081221 autosomal recessive intellectual developmental disorder 59 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_13208 background diabetic retinopathy http://purl.obolibrary.org/obo/DOID_8947 diabetic retinopathy http://purl.obolibrary.org/obo/SYMP_0020025 caseation http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by necrosis of tissue with conversion of damaged tissue into a soft cheesy substance. http://purl.obolibrary.org/obo/DOID_0081222 autosomal recessive intellectual developmental disorder 60 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13. http://purl.obolibrary.org/obo/DOID_14548 steroid-induced glaucoma - borderline http://purl.obolibrary.org/obo/DOID_9283 borderline glaucoma http://purl.obolibrary.org/obo/SYMP_0020027 wet cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a production and expectoration (bringing up) of mucus (phlegm) or sputum. http://purl.obolibrary.org/obo/DOID_0081223 glycosylphosphatidylinositol biosynthesis defect 16 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_0081224 autosomal recessive intellectual developmental disorder 63 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_11175 enophthalmos http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/SYMP_0020029 concentration difficulty http://purl.obolibrary.org/obo/SYMP_0000482 alteration of consciousness An alteration of consciousness that is characterized by a decreased ability to focus one's thoughts on something. Concentration difficulties can be related to difficulty staying awake, impulsiveness, intrusive thoughts or concerns, overactivity, or inattention. They can be caused by medical, cognitive or psychological problems, or, may be related to sleep disorders, medications, alcohol, or drugs. http://purl.obolibrary.org/obo/DOID_0081225 autosomal recessive intellectual developmental disorder 64 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24. http://purl.obolibrary.org/obo/DOID_11230 acute orbital inflammation http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/SYMP_0020030 patches of hair loss with a black dot pattern http://purl.obolibrary.org/obo/SYMP_0000440 hair loss A hair symptom that is characterized by patchy hair loss and the presence of comedo-like cadaver hairs, which appear as black dots. http://purl.obolibrary.org/obo/DOID_0081226 autosomal recessive intellectual developmental disorder 65 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32. http://purl.obolibrary.org/obo/SYMP_0020031 chest discomfort http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by pain, pressure, tightness, or other discomfort originating in or radiating to the chest, which constitutes an important indicator of potentially serious cardiac or cardiovascular disorders. http://purl.obolibrary.org/obo/DOID_12359 endocrine exophthalmos http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_0081227 autosomal recessive intellectual developmental disorder 66 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. http://purl.obolibrary.org/obo/SYMP_0020032 chest tightness http://purl.obolibrary.org/obo/SYMP_0020031 chest discomfort A chest discomfort that is characterized by any type of pain or discomfort between your upper belly and lower neck. http://purl.obolibrary.org/obo/DOID_12360 lateral displacement of eye http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_0081228 autosomal recessive intellectual developmental disorder 67 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15. http://purl.obolibrary.org/obo/SYMP_0020033 paroxysmal cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a persistent cough with sudden onset due to difficulty expelling thick mucus from the tracheobronchial tree. This type of cough is associated with diseases such as Pertussis (Whooping Cough). http://purl.obolibrary.org/obo/DOID_12363 intermittent proptosis http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_0081229 autosomal recessive intellectual developmental disorder 68 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070358 primary biliary cholangitis 1 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. http://purl.obolibrary.org/obo/DOID_12364 pulsating exophthalmos http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_0081230 autosomal recessive intellectual developmental disorder 69 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12. http://purl.obolibrary.org/obo/DOID_0070359 primary biliary cholangitis 2 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. http://purl.obolibrary.org/obo/DOID_1397 chronic orbital inflammation http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_0070360 primary biliary cholangitis 3 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. http://purl.obolibrary.org/obo/DOID_0081231 autosomal recessive intellectual developmental disorder 70 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. http://purl.obolibrary.org/obo/DOID_14233 orbital cyst http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_0070361 primary biliary cholangitis 4 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. http://purl.obolibrary.org/obo/DOID_0081232 autosomal recessive intellectual developmental disorder 71 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22. http://purl.obolibrary.org/obo/DOID_0070362 primary biliary cholangitis 5 http://purl.obolibrary.org/obo/DOID_12236 primary biliary cholangitis A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. http://purl.obolibrary.org/obo/DOID_14459 hemangioma of orbit http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_0081233 autosomal recessive intellectual developmental disorder 73 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_0081100 spastic paraplegia with deafness http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. http://purl.obolibrary.org/obo/DOID_0081234 autosomal recessive intellectual developmental disorder 75 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0081101 nonautoimmune hyperthyroidism http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_11581 phlyctenulosis http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_0081235 autosomal recessive intellectual developmental disorder 76 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. http://purl.obolibrary.org/obo/DOID_0081102 familial gestational hyperthyroidism http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. http://purl.obolibrary.org/obo/DOID_12125 neurotrophic keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_0081104 hot water epilepsy http://purl.obolibrary.org/obo/DOID_2548 reflex epilepsy A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. http://purl.obolibrary.org/obo/DOID_0081236 autosomal recessive intellectual developmental disorder 77 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_12197 punctate epithelial keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata http://purl.obolibrary.org/obo/DOID_3390 palmoplantar keratosis A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. http://purl.obolibrary.org/obo/DOID_0081237 acromesomelic dysplasia 3 http://purl.obolibrary.org/obo/DOID_0080049 acromesomelic dysplasia An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_13014 shipyard eye http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_0081106 hot water epilepsy 1 http://purl.obolibrary.org/obo/DOID_0081104 hot water epilepsy A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3. http://purl.obolibrary.org/obo/DOID_0081238 acromesomelic dysplasia 4 http://purl.obolibrary.org/obo/DOID_0080049 acromesomelic dysplasia An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. http://purl.obolibrary.org/obo/DOID_0081239 injection anthrax http://purl.obolibrary.org/obo/DOID_7427 anthrax disease An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores. http://purl.obolibrary.org/obo/DOID_10443 hypopyon http://purl.obolibrary.org/obo/DOID_9383 iridocyclitis http://purl.obolibrary.org/obo/DOID_10802 acute gonococcal epididymo-orchitis http://purl.obolibrary.org/obo/DOID_9401 epididymo-orchitis http://purl.obolibrary.org/obo/DOID_10648 acute inferoposterior infarction http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/DOID_10649 acute inferolateral myocardial infarction http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/DOID_0081107 hot water epilepsy 2 http://purl.obolibrary.org/obo/DOID_0081104 hot water epilepsy A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28. http://purl.obolibrary.org/obo/DOID_0081329 glycogen storage disease I http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. http://purl.obolibrary.org/obo/DOID_10651 acute anterolateral myocardial infarction http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/DOID_0081108 keratosis palmoplantaris striata 1 http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0081368 Paget disease of bone 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. http://purl.obolibrary.org/obo/DOID_13823 parasitic eyelid infestation http://purl.obolibrary.org/obo/DOID_9423 blepharitis http://purl.obolibrary.org/obo/DOID_0081109 keratosis palmoplantaris striata 2 http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24. http://purl.obolibrary.org/obo/DOID_0070527 Borrelia miyamotoi disease http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. http://purl.obolibrary.org/obo/DOID_13825 squamous blepharitis http://purl.obolibrary.org/obo/DOID_9423 blepharitis http://purl.obolibrary.org/obo/DOID_0081110 keratosis palmoplantaris striata 3 http://purl.obolibrary.org/obo/DOID_0081105 keratosis palmoplantaris striata A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0081426 autosomal recessive distal hereditary motor neuronopathy 7 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_11459 pseudotumor cerebri http://purl.obolibrary.org/obo/DOID_9428 intracranial hypertension http://purl.obolibrary.org/obo/DOID_0081111 osteosclerotic metaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080019 metaphyseal dysplasia A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. http://purl.obolibrary.org/obo/DOID_0081427 autosomal recessive distal hereditary motor neuronopathy 8 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_14268 sclerosing cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/DOID_14269 suppurative cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/DOID_0081112 Baraitser-Winter syndrome 1 http://purl.obolibrary.org/obo/DOID_0060229 Baraitser-Winter syndrome A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. http://purl.obolibrary.org/obo/DOID_0060978 Fanconi anemia complementation group W http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23. http://purl.obolibrary.org/obo/DOID_14270 ascending cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/DOID_0081113 Baraitser-Winter syndrome 2 http://purl.obolibrary.org/obo/DOID_0060229 Baraitser-Winter syndrome A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0060979 Fanconi anemia complementation group S http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_14271 acute cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/DOID_0081114 benign familial infantile seizures 1 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q. http://purl.obolibrary.org/obo/DOID_0081115 benign familial infantile seizures 2 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11. http://purl.obolibrary.org/obo/DOID_0081116 benign familial infantile seizures 3 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_0081117 benign familial infantile seizures 4 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1. http://purl.obolibrary.org/obo/DOID_0081118 benign familial infantile seizures 5 http://purl.obolibrary.org/obo/DOID_0060169 benign familial infantile epilepsy A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0081120 Graves ophthalmopathy http://purl.obolibrary.org/obo/DOID_0060030 autoimmune disease of eyes, ear, nose and throat An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. http://purl.obolibrary.org/obo/DOID_0060980 polycystic liver disease 1 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_14272 pericholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/DOID_0081121 inclusion body myopathy and brain white matter abnormalities http://purl.obolibrary.org/obo/DOID_0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0060981 mosaic variegated aneuploidy syndrome 4 http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_14503 neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease http://purl.obolibrary.org/obo/DOID_0081122 Catel Manzke syndrome http://purl.obolibrary.org/obo/DOID_0080001 bone disease A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_14559 anaerobic meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis http://purl.obolibrary.org/obo/DOID_0081123 X-linked mental retardation Gustavson type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability that is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood that has_material_basis_in hemizygous mutation in the RBMX gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_0060983 sitosterolemia 2 http://purl.obolibrary.org/obo/DOID_0090019 sitosterolemia A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. http://purl.obolibrary.org/obo/DOID_12156 arachnoiditis http://purl.obolibrary.org/obo/DOID_9471 meningitis http://purl.obolibrary.org/obo/DOID_0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. http://purl.obolibrary.org/obo/DOID_0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/DOID_0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2. http://purl.obolibrary.org/obo/DOID_12524 plantar nerve lesion http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/DOID_0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 http://purl.obolibrary.org/obo/DOID_0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_12527 common peroneal nerve lesion http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/DOID_0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 http://purl.obolibrary.org/obo/DOID_0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3. http://purl.obolibrary.org/obo/DOID_0070558 autosomal recessive spinocerebellar ataxia 34 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. http://purl.obolibrary.org/obo/DOID_0070370 restrictive dermopathy 2 http://purl.obolibrary.org/obo/DOID_0060762 restrictive dermopathy A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_12528 lesion of sciatic nerve http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/DOID_0070452 xanthinuria type I http://purl.obolibrary.org/obo/DOID_0060236 xanthinuria A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. http://purl.obolibrary.org/obo/DOID_0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 http://purl.obolibrary.org/obo/DOID_0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13. http://purl.obolibrary.org/obo/DOID_12529 tibial nerve palsy http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/DOID_0070453 xanthinuria type II http://purl.obolibrary.org/obo/DOID_0060236 xanthinuria A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 gene on chromosome 1p34.2. http://purl.obolibrary.org/obo/DOID_12809 chronic lacrimal gland enlargement http://purl.obolibrary.org/obo/DOID_950 dacryoadenitis http://purl.obolibrary.org/obo/DOID_0070454 hereditary spastic paraplegia 70 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. http://purl.obolibrary.org/obo/DOID_0070561 glucose transporter type 1 deficiency syndrome 1 http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. http://purl.obolibrary.org/obo/DOID_12986 leukostasis http://purl.obolibrary.org/obo/DOID_9500 leukocyte disease http://purl.obolibrary.org/obo/DOID_0070455 hereditary spastic paraplegia 79A http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. http://purl.obolibrary.org/obo/DOID_12257 medulloadrenal hyperfunction http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease http://purl.obolibrary.org/obo/DOID_0070562 Fanconi-Bickel syndrome http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2. http://purl.obolibrary.org/obo/DOID_0070456 hereditary spastic paraplegia 87 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_3947 adrenal gland hyperfunction http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease http://purl.obolibrary.org/obo/DOID_0070563 glucose-galactose malabsorption http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3. http://purl.obolibrary.org/obo/DOID_13664 post-vaccinal encephalitis http://purl.obolibrary.org/obo/DOID_9588 encephalitis http://purl.obolibrary.org/obo/DOID_0070457 hereditary spastic paraplegia 88 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. http://purl.obolibrary.org/obo/DOID_0060996 poor metabolism of thiopurines 2 http://purl.obolibrary.org/obo/DOID_0080172 poor metabolism of thiopurines A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_11875 denture stomatitis http://purl.obolibrary.org/obo/DOID_9637 stomatitis http://purl.obolibrary.org/obo/DOID_0070458 hereditary spastic paraplegia 89 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. http://purl.obolibrary.org/obo/DOID_0070459 hereditary spastic paraplegia 90A http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. http://purl.obolibrary.org/obo/DOID_0070460 hereditary spastic paraplegia 90B http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. http://purl.obolibrary.org/obo/DOID_0070617 rhabdoid tumor predisposition syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children. http://purl.obolibrary.org/obo/DOID_0060998 striatal degeneration 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27. http://purl.obolibrary.org/obo/DOID_0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A http://purl.obolibrary.org/obo/DOID_0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_11771 spontaneous ocular nystagmus http://purl.obolibrary.org/obo/DOID_9650 pathologic nystagmus http://purl.obolibrary.org/obo/DOID_0051042 autosomal dominant distal hereditary motor neuronopathy 15 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B http://purl.obolibrary.org/obo/DOID_0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_13174 dissociated nystagmus http://purl.obolibrary.org/obo/DOID_9650 pathologic nystagmus http://purl.obolibrary.org/obo/DOID_0051043 Charcot-Marie-Tooth disease axonal type 2JJ http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/DOID_14192 bicipital tenosynovitis http://purl.obolibrary.org/obo/DOID_970 tenosynovitis http://purl.obolibrary.org/obo/DOID_0051044 infantile-onset myofibrillar myopathy 12 with cardiomyopathy http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 http://purl.obolibrary.org/obo/DOID_0111143 mitochondrial complex V (ATP synthase) deficiency A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. http://purl.obolibrary.org/obo/DOID_0070466 carpal tunnel syndrome 1 http://purl.obolibrary.org/obo/DOID_12169 carpal tunnel syndrome A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1. http://purl.obolibrary.org/obo/DOID_10471 patellar tendinitis http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/DOID_0051045 myofibrillar myopathy 13 with rimmed vacuoles http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0051046 spondyloepimetaphyseal dysplasia, Li-Shao-Li type http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_0070467 carpal tunnel syndrome 2 http://purl.obolibrary.org/obo/DOID_12169 carpal tunnel syndrome A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_10810 tibialis tendinitis http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/DOID_14181 calcific tendinitis http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/DOID_0051047 congenital disorder of glycosylation type IIbb http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_0081373 disabling pansclerotic morphea http://purl.obolibrary.org/obo/DOID_8472 localized scleroderma A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. http://purl.obolibrary.org/obo/DOID_11816 vitreous syneresis http://purl.obolibrary.org/obo/DOID_9720 vitreous disease http://purl.obolibrary.org/obo/DOID_0051048 congenital disorder of glycosylation type IIr http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_0081374 nemaline myopathy 5B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. http://purl.obolibrary.org/obo/DOID_10697 chronic endophthalmitis http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/DOID_0081375 nemaline myopathy 5C http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0051049 congenital disorder of glycosylation type IIt http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. http://purl.obolibrary.org/obo/DOID_11752 acute endophthalmitis http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy http://purl.obolibrary.org/obo/DOID_3762 cytochrome-c oxidase deficiency disease A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. http://purl.obolibrary.org/obo/DOID_0051050 congenital disorder of glycosylation type IIv http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_13732 panophthalmitis http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/DOID_0081428 autosomal recessive distal hereditary motor neuronopathy 9 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. http://purl.obolibrary.org/obo/DOID_0051051 congenital disorder of glycosylation type IIw http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_2825 nose disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/DOID_0070549 primary pigmented nodular adrenocortical disease 4 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene. http://purl.obolibrary.org/obo/DOID_0051052 congenital disorder of glycosylation type IIy http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_0060988 pancreatic agenesis 2 http://purl.obolibrary.org/obo/DOID_0050877 pancreatic agenesis A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12. http://purl.obolibrary.org/obo/DOID_3225 tracheal disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/DOID_0051053 congenital disorder of glycosylation type IIz http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. http://purl.obolibrary.org/obo/DOID_0070603 autosomal dominant nonsyndromic deafness 82 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/DOID_786 laryngeal disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/DOID_0051055 46,XY gonadal dysgenesis with minifascicular neuropathy http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). http://purl.obolibrary.org/obo/DOID_0061225 interleukin-1 receptor antagonist deficiency http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress that has_material_basis_in homozygous mutation in the IL1RN gene on chromosome 2q14. http://purl.obolibrary.org/obo/DOID_9561 nasopharyngeal disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/DOID_0061031 autosomal dominant intellectual developmental disorder 57 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0070665 lipofibromatosis http://purl.obolibrary.org/obo/DOID_0060123 connective tissue benign neoplasm A connective tissue benign neoplasm that is characterized by mature adipose tissue and bundles of cuboidal to spindled fibroblast-like cells. It occurs mainly in children, more often in males, preferentially involves the hands and feet, and may recur locally. http://purl.obolibrary.org/obo/DOID_13409 perforation of bile duct http://purl.obolibrary.org/obo/DOID_9741 biliary tract disease http://purl.obolibrary.org/obo/DOID_0061032 autosomal dominant intellectual developmental disorder 58 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0070666 infantile myofibromatosis 1 http://purl.obolibrary.org/obo/DOID_0080109 infantile myofibromatosis An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_12337 varicocele http://purl.obolibrary.org/obo/DOID_9742 pelvic varices http://purl.obolibrary.org/obo/DOID_12785 diabetic polyneuropathy http://purl.obolibrary.org/obo/DOID_9743 diabetic neuropathy http://purl.obolibrary.org/obo/DOID_0061033 autosomal dominant intellectual developmental disorder 59 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0070667 infantile myofibromatosis 2 http://purl.obolibrary.org/obo/DOID_0080109 infantile myofibromatosis An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_11772 leukocoria http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease http://purl.obolibrary.org/obo/DOID_0061034 autosomal dominant intellectual developmental disorder 61 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0070798 infection-induced acute-onset axonal neuropathy http://purl.obolibrary.org/obo/DOID_231 motor neuron disease A motor neuron disease characterized by acute onset of progressive muscle weakness and axonal sensorimotor neuropathy following an infection or febrile episode in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the RCC1 gene on chromosome 1p35. Affected individuals may have progressive cerebral and cerebellar atrophy and may have recurrent episodes resulting in loss of ambulation, long-term ventilatory support, or early death. http://purl.obolibrary.org/obo/DOID_11850 transient refractive change http://purl.obolibrary.org/obo/DOID_9835 refractive error http://purl.obolibrary.org/obo/DOID_0061035 autosomal dominant intellectual developmental disorder 62 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0070799 kyphomelic dysplasia, Itai-Ikegawa type http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by small thorax, bent long bones, short stature, and common facial dysmorphisms that has_material_basis_in heterozygous mutation in the KIF5B gene on chromosome 10p11. http://purl.obolibrary.org/obo/DOID_12273 anisometropia http://purl.obolibrary.org/obo/DOID_9835 refractive error http://purl.obolibrary.org/obo/DOID_0061036 autosomal dominant intellectual developmental disorder 63 with macrocephaly http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_0070800 leukodystrophy and cerebellar atrophy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by neurodevelopmental defects, leukodystrophy, and cerebellar atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the LSM7 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_13490 active cochleovestibular Meniere's disease http://purl.obolibrary.org/obo/DOID_9849 Meniere's disease http://purl.obolibrary.org/obo/DOID_0061037 autosomal dominant intellectual developmental disorder 64 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_0070801 Li-Takada-Miyake syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by prenatal-onset growth impairment, developmental delay, mild intellectual disability, speech impairment, progressive and disproportionate microcephaly or small head, facial asymmetry, congenital heart anomaly, and brain structure abnormalities that has_material_basis_in homozygous mutation in the GON4L gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_13491 active vestibular Meniere's disease http://purl.obolibrary.org/obo/DOID_9849 Meniere's disease http://purl.obolibrary.org/obo/DOID_0061038 autosomal dominant intellectual developmental disorder 65 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0070802 Gabriele-de Vries syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the YY1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_13492 active cochlear Meniere's disease http://purl.obolibrary.org/obo/DOID_9849 Meniere's disease http://purl.obolibrary.org/obo/DOID_0061039 autosomal dominant intellectual developmental disorder 66 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. http://purl.obolibrary.org/obo/DOID_0070803 Witteveen-Kolk syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging that has_material_basis_in heterozygous mutation in the SIN3A gene on chromosome 15q24. http://purl.obolibrary.org/obo/DOID_13353 diffuse interstitial keratitis http://purl.obolibrary.org/obo/DOID_9857 interstitial keratitis http://purl.obolibrary.org/obo/DOID_0061040 autosomal dominant intellectual developmental disorder 67 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33. http://purl.obolibrary.org/obo/DOID_0070804 lung-brain developmental disorder http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset respiratory distress, chronic hypoxemia, diffuse parenchymal lung abnormalities on chest imaging, and developmental delay, with speech and language development more severely affected, that has_material_basis_in homozygous or compound heterozygous mutations in the TMEM63B gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_11543 corneal abscess http://purl.obolibrary.org/obo/DOID_9858 deep keratitis http://purl.obolibrary.org/obo/DOID_0061041 autosomal dominant intellectual developmental disorder 68 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070805 Muggenthaler-Chowdhury-Chioza syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniofacial dysmorphism, most consistently hypertelorism and a broad flat nose, myopia, and variable additional features including congenital cardiac anomalies, orofacial clefting, and hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the HYAL2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_11719 oculopharyngeal muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy http://purl.obolibrary.org/obo/DOID_0061042 autosomal dominant intellectual developmental disorder 69 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_0070806 early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by onset in early childhood of progressive walking difficulties, progressive visual impairment and blindness due to retinitis pigmentosa, sensorineural hearing loss, demyelinating peripheral neuropathy, and severely impaired intellectual development with poor or absent speech that has_material_basis_in homozygous mutation in the KLC4 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy http://purl.obolibrary.org/obo/DOID_0061043 autosomal dominant intellectual developmental disorder 70 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0070807 neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by mild developmental delay/impaired intellectual development, variable achalasia, and peripheral motor polyneuropathy without endocrine abnormalities that has_material_basis_in homozygous mutation in the NDC1 gene (610115) on chromosome 1p32. http://purl.obolibrary.org/obo/DOID_12996 acute dacryocystitis http://purl.obolibrary.org/obo/DOID_9938 dacryocystitis http://purl.obolibrary.org/obo/DOID_0061044 autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0070808 neurodevelopmental disorder with ataxia and brain abnormalities http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy, and bulbar dysfunction with neonatal/infantile onset that has_material_basis_in homozygous mutation in the PTPMT1 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_12997 Phlegmonous dacryocystitis http://purl.obolibrary.org/obo/DOID_9938 dacryocystitis http://purl.obolibrary.org/obo/DOID_0061045 autosomal dominant intellectual developmental disorder 72 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0070809 neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by behavioral phenotypes and a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities, and facial dysmorphism that has_material_basis_in heterozygous mutation in the FEM1B gene on chromosome 15q23. http://purl.obolibrary.org/obo/DOID_13585 alveolar periostitis http://purl.obolibrary.org/obo/DOID_9957 periostitis http://purl.obolibrary.org/obo/DOID_0061046 autosomal dominant intellectual developmental disorder 73 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0070810 neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by microcephaly, impaired intellectual development, seizures, brain abnormalities seen on MRI, and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the GTF3C3 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_11981 morbid obesity http://purl.obolibrary.org/obo/DOID_9970 obesity http://purl.obolibrary.org/obo/DOID_0061047 autosomal dominant intellectual developmental disorder 74 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_0070811 neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay, delayed walking or inability to walk, moderate to profoundly impaired intellectual development with poor or absent speech, and poor overall growth, often with microcephaly that has_material_basis_in homozygous mutation in the INPP4A gene gene on chromosome 2q11. http://purl.obolibrary.org/obo/HP_0410008 Abnormality of the peripheral nervous system http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system http://purl.obolibrary.org/obo/DOID_0061048 autosomal dominant intellectual developmental disorder 75 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_0070812 neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early infantile onset of hypotonia, feeding difficulties, poor overall growth, dysmorphic facies, profound developmental delay, and recurrent upper and lower respiratory infections associated with agammaglobulinemia that has_material_basis_in homozygous mutation in the SEL1L gene on chromosome 14q31. http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/DOID_0061049 autosomal dominant intellectual developmental disorder type FRA12A http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0070813 progressive ataxia absent speech neurodevelopmental disorder with poor growth and dysmorphic facies http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by dysmorphic facies, delayed motor development with ataxic or spastic gait, impaired intellectual development with absent speech, and poor overall growth, including microcephaly and short stature, that has_material_basis_in homozygous mutation in the SEL1L gene on chromosome 14q31. http://purl.obolibrary.org/obo/HP_0001480 Freckling http://purl.obolibrary.org/obo/HP_0001000 Abnormal skin pigmentation http://purl.obolibrary.org/obo/DOID_0061050 autosomal dominant intellectual developmental disorder 60 with seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_0070814 neurodevelopmental disorder with poor growth, seizures, and brain abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by poor overall growth with short stature and microcephaly, motor and speech delay, and mild-to-severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the SPOUT1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/HP_0004326 Cachexia http://purl.obolibrary.org/obo/HP_0001824 Weight loss http://purl.obolibrary.org/obo/DOID_0061051 immunodeficiency 80 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13. http://purl.obolibrary.org/obo/DOID_0070815 neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay including delays in walking and speech development, with some having hypotonia and inability to walk unsupported and most being nonverbal, intellectual disability ranging from mild to severe, and behavioral features including aggression, hyperactivity, and autism that has_material_basis_in homozygous mutation in the NAV3 gene on chromosome 12q21. http://purl.obolibrary.org/obo/HP_0033100 Increased proteinogenic amino acid level in urine http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/DOID_0061052 immunodeficiency 81 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. http://purl.obolibrary.org/obo/DOID_0070816 neurodevelopmental disorder with progressive spasticity and brain abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with moderate to severely impaired intellectual development, poor or absent speech, hypotonia, and delayed walking or inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the EEFSEC gene on chromosome 3q21. http://purl.obolibrary.org/obo/NCBITaxon_11077 Kunjin virus http://purl.obolibrary.org/obo/NCBITaxon_11082 West Nile virus http://purl.obolibrary.org/obo/DOID_0061053 immunodeficiency 82 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0070817 neurodevelopmental disorder with seizures and joint laxity http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development, seizures, joint hypermobility, hypotonia, macrocephaly, and failure to thrive that has_material_basis_in heterozygous mutation in the RNU5B-1 gene on chromosome 15q22. http://purl.obolibrary.org/obo/NCBITaxon_121224 Pediculus humanus corporis http://purl.obolibrary.org/obo/NCBITaxon_121225 Pediculus humanus http://purl.obolibrary.org/obo/DOID_0061054 immunodeficiency 84 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. http://purl.obolibrary.org/obo/DOID_0070818 neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by severe intellectual disability, spastic tetraparesis, reduced vision, and epilepsy, associated with severe hydrocephalus, corpus callosum agenesis/hypoplasia, mild ventricular dilation, optic nerve hypoplasia, and white matter reduction that has_material_basis_in homozygous or compound heterozygous mutation in the FSD1L gene on chromosome 9q31. http://purl.obolibrary.org/obo/NCBITaxon_11053 dengue virus type 1 http://purl.obolibrary.org/obo/NCBITaxon_12637 Dengue virus http://purl.obolibrary.org/obo/DOID_0061055 immunodeficiency 85 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_0070819 neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by microcephaly, thinning of the corpus callosum, intellectual disability, hypotonia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the EEF1D gene on chromosome 8q24. http://purl.obolibrary.org/obo/NCBITaxon_47466 Borrelia miyamotoi http://purl.obolibrary.org/obo/NCBITaxon_138 Borrelia http://purl.obolibrary.org/obo/DOID_0061056 immunodeficiency 86 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0070820 neurodevelopmental disorder with white matter abnormalities and gait disturbance http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by macrocephaly, global developmental delay, impaired intellectual development, seizures, behavioral abnormalities, hypotonia, and gait disturbance that has_material_basis_in homozygous or compound heterozygous mutation in the FAM177A1 gene on chromosome 14q13. http://purl.obolibrary.org/obo/NCBITaxon_1639 Listeria monocytogenes http://purl.obolibrary.org/obo/NCBITaxon_1637 Listeria http://purl.obolibrary.org/obo/DOID_0061057 immunodeficiency 87 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. http://purl.obolibrary.org/obo/DOID_0070821 ocular pterygium-digital keloid dysplasia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by aggressive circumferential ingrowth of conjunctiva beginning in early childhood that is resistant to treatment, ultimately covering the cornea and resulting in loss of vision, and digital keloid formation after minor trauma that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32. http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/DOID_0061058 immunodeficiency 88 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0070822 oculovertebral syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable expressivity of uveal coloboma, often associated with other ocular abnormalities, and missing vertebrae in the thoracic and/or lumber spine that has_material_basis_in heterozygous mutation in the NR6A1 gene on chromosome 9q33. http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/DOID_0061059 immunodeficiency 89 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0070823 Paul-Chao neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, delayed walking, variably impaired intellectual development, and poor or absent speech that has_material_basis_in heterozygous mutation in the PPFIA3 gene on chromosome 19q13. http://purl.obolibrary.org/obo/NCBITaxon_172148 Alkhumra hemorrhagic fever virus http://purl.obolibrary.org/obo/NCBITaxon_33743 Kyasanur Forest disease virus http://purl.obolibrary.org/obo/DOID_0061060 immunodeficiency 90 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0070824 spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia characterized by short stature, a general delay in bone maturation and epiphyseal ossification, and features suggestive of ectodermal dysplasia, including conical teeth and/or early tooth decay and sparse hair, that has_material_basis_in homozygous or compound heterozygous mutation in the MIMS1 gene on chromosome 18p11. http://purl.obolibrary.org/obo/NCBITaxon_34620 Dermacentor andersoni http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/DOID_0061061 immunodeficiency 91 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0070825 spondyloepiphyseal dysplasia, Holling type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by disproportionate short stature and abnormalities of both the axial and appendicular skeleton with epiphyseal anomalies most prominent that has_material_basis_in homozygous mutation in the BNIP1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/NCBITaxon_34621 Dermacentor variabilis http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/NCBITaxon_49202 Dermacentor marginatus http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/DOID_0061062 immunodeficiency 92 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16. http://purl.obolibrary.org/obo/DOID_0070826 Tayoun-Maawali syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by growth restriction, neurodevelopmental delay, and craniofacial abnormalities that has_material_basis_in homozygous mutation in the FBXO22 gene on chromosome 15q24. http://purl.obolibrary.org/obo/NCBITaxon_112252 Fungi incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/DOID_0061063 immunodeficiency 93 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0070827 X-linked female-restricted neurodegenerative disorder with Parkinsonism and cognitive impairment http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A Parkinsonism that occurs in females characterized by progressive parkinsonism movement abnormalities associated with variable cognitive impairment and/or psychiatric abnormalities that has_material_basis_in heterozygous mutation in the SLC9A6 gene on chromosome Xq26. http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/DOID_0061064 immunodeficiency 94 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. http://purl.obolibrary.org/obo/DOID_0070828 X-linked retinal dystrophy, Gardner-Hardcastle type http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration A retinal degeneration characterized by early childhood onset of night blindness or light sensitivity, reduced visual acuity, and variable maculopathy with foveal hypoplasia that has_material_basis_in hemizygous interchromosomal insertion at chromosome Xq27. http://purl.obolibrary.org/obo/NCBITaxon_2036922 Cladosporium cf. cladosporoides http://purl.obolibrary.org/obo/NCBITaxon_5498 Cladosporium http://purl.obolibrary.org/obo/DOID_0061065 immunodeficiency 95 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_0070829 microcephaly, epilepsy, and diabetes syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by microcephaly, epilepsy, and infantile diabetes. http://purl.obolibrary.org/obo/NCBITaxon_523103 Trichophyton mentagrophytes http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/DOID_0061066 immunodeficiency 96 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070830 microcephaly, epilepsy, and diabetes syndrome 1 http://purl.obolibrary.org/obo/DOID_0070829 microcephaly, epilepsy, and diabetes syndrome A microcephaly, epilepsy, and diabetes syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. http://purl.obolibrary.org/obo/NCBITaxon_63417 Trichophyton verrucosum http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/DOID_0061067 immunodeficiency 97 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22. http://purl.obolibrary.org/obo/DOID_0070831 microcephaly, epilepsy, and diabetes syndrome 2 http://purl.obolibrary.org/obo/DOID_0070829 microcephaly, epilepsy, and diabetes syndrome A microcephaly, epilepsy, and diabetes syndrome that has_material_basis_in homozygous mutation in the YIPF5 gene on chromosome 5q31. http://purl.obolibrary.org/obo/NCBITaxon_63418 Trichophyton equinum http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/DOID_0061068 immunodeficiency 98 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_0070832 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by developmental delay, microcephaly, impaired speech and ambulation, epilepsy, and cortical malformations, with a relatively wide spectrum of severity ranging from early death to intellectual disability with mild motor impairment, that has_material_basis_in homozygous or compound heterozygous mutation in the TMX2 gene on chromosome 11q12. http://purl.obolibrary.org/obo/NCBITaxon_63419 Trichophyton concentricum http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/DOID_0061069 immunodeficiency 99 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. http://purl.obolibrary.org/obo/ENVO_00002003 fecal material http://purl.obolibrary.org/obo/CHEBI_50904 allergen An excreta material which is composed primarily of feces, an excreta consisting of waste products expelled from an animal's digestive tract through the anus (or cloaca) during defecation. http://purl.obolibrary.org/obo/NCBITaxon_5553 Trichosporon beigelii http://purl.obolibrary.org/obo/NCBITaxon_5552 Trichosporon http://purl.obolibrary.org/obo/DOID_0061070 immunodeficiency 100 http://purl.obolibrary.org/obo/DOID_850 lung disease A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/ENVO_2000004 algal bloom http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A feature that arises from a rapid increase or accumulation in the population of algae (typically microscopic) in an aquatic system. http://purl.obolibrary.org/obo/SYMP_0000838 breakthrough pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by occurring with movement and is not controlled by a scheduled pain medication regimen, such that the pain breaks through the current regimen. This is usually referred to in the context of a short and long acting opioid, the short acting opioid being used to treat the breakthrough pain. http://purl.obolibrary.org/obo/NCBITaxon_418103 Plasmodium http://purl.obolibrary.org/obo/NCBITaxon_5820 Plasmodium http://purl.obolibrary.org/obo/DOID_0061071 immunodeficiency 101 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11. http://purl.obolibrary.org/obo/SYMP_0000000 cellulitis http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom Cellulitis is a musculoskeletal system symptom characterized as a diffuse and especially subcutaneous inflammation of connective tissue. http://purl.obolibrary.org/obo/NCBITaxon_418107 Laverania http://purl.obolibrary.org/obo/NCBITaxon_5820 Plasmodium http://purl.obolibrary.org/obo/DOID_0061072 immunodeficiency 102 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26. http://purl.obolibrary.org/obo/NCIT_C689 Niacin http://purl.obolibrary.org/obo/CHEBI_33229 vitamin (role) A water-soluble vitamin belonging to the vitamin B family, which occurs in many animal and plant tissues, with antihyperlipidemic activity. Niacin is converted to its active form niacinamide, which is a component of the coenzymes nicotinamide adenine dinucleotide (NAD) and its phosphate form, NADP. These coenzymes play an important role in tissue respiration and in glycogen, lipid, amino acid, protein, and purine metabolism. Although the exact mechanism of action by which niacin lowers cholesterol is not fully understood, it may act by inhibiting the synthesis of very low density lipoproteins (VLDL), inhibiting the release of free fatty acids from adipose tissue, increasing lipoprotein lipase activity, and reducing the hepatic synthesis of VLDL-C and LDL-C. http://purl.obolibrary.org/obo/NCBITaxon_29930 Ixodes pacificus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/DOID_0061073 Perrault syndrome 7 http://purl.obolibrary.org/obo/DOID_0050857 Perrault syndrome A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22. http://purl.obolibrary.org/obo/NCIT_C809 Ricin http://purl.obolibrary.org/obo/CHEBI_27026 toxin A phytotoxin and lectin comprised of a homodimer of ricin toxin A and B chains derived from the seeds of Ricinus communis, the castor oil plant, with protein synthesis inhibitory activity and extremely high cytotoxicity. Following ingestion, inhalation or injection of ricin, the B chain binds to complex carbohydrates containing either terminal N-acetylgalactosamine or beta-1,4-linked galactose residues on the surface of cells. Subsequently, the ricin A/B heterodimer is internalized and undergoes retrograde transport to the endoplasmic reticulum (ER). In the ER, the A chain, which has enzymatic activity that is sterically hindered by the B chain, is proteolytically released from the heterodimer by protein disulfide isomerase. In the ER, the free A chain has N-glycosidase activity that cleaves 28S rRNA. This enzymatic cleavage disrupts the ribosome, halts protein synthesis, and can lead to cell death. The extreme cytotoxicity of ricin makes it an attractive candidate for artificial fusion with binding proteins to create cell-type-specific toxins. http://purl.obolibrary.org/obo/NCBITaxon_34613 Ixodes ricinus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/DOID_0061074 severe combined immunodeficiency 105 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31. http://purl.obolibrary.org/obo/NCBITaxon_65647 Ixodes holocyclus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/ENVO_01001297 cyclone http://purl.obolibrary.org/obo/ExO_0000007 ecological perturbation An atmospheric storm during which a large mass of atmospheric gas rotates around a centre of low atmospheric pressure, generating high winds which spiral towards that centre. http://purl.obolibrary.org/obo/DOID_0061075 immunodeficiency 106 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/NCBITaxon_6945 Ixodes scapularis http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/DOID_0040104 toluene 2,4-diisocyanate allergic asthma http://purl.obolibrary.org/obo/DOID_0040043 toluene meta-diisocyanate allergic asthma A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. http://purl.obolibrary.org/obo/DOID_0061076 immunodeficiency 107 http://purl.obolibrary.org/obo/DOID_850 lung disease A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15. http://purl.obolibrary.org/obo/NCBITaxon_34615 Ixodes persulcatus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/DOID_0070000 3-methylglutaconic aciduria type 8 http://purl.obolibrary.org/obo/DOID_0060336 3-methylglutaconic aciduria A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0061077 immunodeficiency 108 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11. http://purl.obolibrary.org/obo/NCBITaxon_53542 Finlaya http://purl.obolibrary.org/obo/NCBITaxon_7158 Aedes http://purl.obolibrary.org/obo/DOID_0070002 3-methylglutaconic aciduria type 9 http://purl.obolibrary.org/obo/DOID_0060336 3-methylglutaconic aciduria A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0061078 immunodeficiency 109 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. http://purl.obolibrary.org/obo/NCBITaxon_53541 Stegomyia http://purl.obolibrary.org/obo/NCBITaxon_7158 Aedes http://purl.obolibrary.org/obo/DOID_0070163 spermatogenic failure 21 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. http://purl.obolibrary.org/obo/DOID_0061079 immunodeficiency 112 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21. http://purl.obolibrary.org/obo/NCBITaxon_53527 Culex http://purl.obolibrary.org/obo/NCBITaxon_7174 Culex http://purl.obolibrary.org/obo/DOID_0070164 spermatogenic failure 2 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31. http://purl.obolibrary.org/obo/DOID_0061080 immunodeficiency 114 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/NCBITaxon_780 Rickettsia http://purl.obolibrary.org/obo/DOID_0070165 spermatogenic failure 18 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0061081 immunodeficiency 115 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. http://purl.obolibrary.org/obo/NCBITaxon_114292 typhus group http://purl.obolibrary.org/obo/NCBITaxon_780 Rickettsia http://purl.obolibrary.org/obo/DOID_0070166 spermatogenic failure 20 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_0061082 immunodeficiency 116 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12. http://purl.obolibrary.org/obo/NCBITaxon_226665 Rickettsia conorii subsp. heilongjiangensis http://purl.obolibrary.org/obo/NCBITaxon_781 Rickettsia conorii http://purl.obolibrary.org/obo/DOID_0070167 spermatogenic failure 6 http://purl.obolibrary.org/obo/DOID_0112312 male infertility due to globozoospermia A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_0061083 immunodeficiency 117 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. http://purl.obolibrary.org/obo/UBERON_0001085 skin of trunk http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/DOID_0070168 spermatogenic failure 3 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0061084 immunodeficiency 118 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. http://purl.obolibrary.org/obo/UBERON_0001415 skin of pelvis http://purl.obolibrary.org/obo/UBERON_0003836 abdominal segment skin http://purl.obolibrary.org/obo/DOID_0070169 spermatogenic failure 8 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. http://purl.obolibrary.org/obo/DOID_0061085 immunodeficiency 119 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. http://purl.obolibrary.org/obo/UBERON_0003836 abdominal segment skin http://purl.obolibrary.org/obo/UBERON_0001085 skin of trunk http://purl.obolibrary.org/obo/DOID_0070170 spermatogenic failure 19 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. http://purl.obolibrary.org/obo/DOID_0061086 immunodeficiency 120 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/UBERON_0015474 axilla skin http://purl.obolibrary.org/obo/UBERON_8480025 skin of clavicle region http://purl.obolibrary.org/obo/DOID_0070171 spermatogenic failure 12 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_0061087 immunodeficiency 121 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_0070172 spermatogenic failure 15 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. http://purl.obolibrary.org/obo/UBERON_8410021 inguinal region skin http://purl.obolibrary.org/obo/UBERON_0003836 abdominal segment skin http://purl.obolibrary.org/obo/DOID_0061088 immunodeficiency 122 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0070173 spermatogenic failure 7 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. http://purl.obolibrary.org/obo/UBERON_8480025 skin of clavicle region http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/DOID_0061089 immunodeficiency 123 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_0070174 spermatogenic failure 17 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. http://purl.obolibrary.org/obo/UBERON_8480029 skin of external genitalia http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0061090 severe combined immunodeficiency 124 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_0070176 spermatogenic failure 4 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0061091 immunodeficiency 125 http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070177 spermatogenic failure 22 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. http://purl.obolibrary.org/obo/UBERON_0000970 eye http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/DOID_0061092 immunodeficiency 127 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0070178 spermatogenic failure 10 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13. http://purl.obolibrary.org/obo/UBERON_0001723 tongue http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0061093 immunodeficiency 128 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_0070179 spermatogenic failure 14 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by male infertility due to azoospermia with sperm maturation arrest in the spermatid stage that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13. http://purl.obolibrary.org/obo/UBERON_0001690 ear http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_0061094 immunodeficiency 129 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14. http://purl.obolibrary.org/obo/DOID_0070180 spermatogenic failure 11 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. http://purl.obolibrary.org/obo/UBERON_0002268 olfactory organ http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/DOID_0061096 immunodeficiency 133 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0070181 spermatogenic failure 23 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. http://purl.obolibrary.org/obo/UBERON_0010230 eyeball of camera-type eye http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/DOID_0061097 immunodeficiency 132B http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0070182 spermatogenic failure 13 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/DOID_0061098 Carpenter syndrome 1 http://purl.obolibrary.org/obo/DOID_0060234 Carpenter syndrome A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11. http://purl.obolibrary.org/obo/DOID_0070183 spermatogenic failure 5 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. http://purl.obolibrary.org/obo/UBERON_0001004 respiratory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/DOID_0061099 Carpenter syndrome 2 http://purl.obolibrary.org/obo/DOID_0060234 Carpenter syndrome A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070184 spermatogenic failure 16 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/UBERON_0001016 nervous system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly http://purl.obolibrary.org/obo/DOID_0070297 primary microcephaly A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation. http://purl.obolibrary.org/obo/DOID_0070185 X-linked spermatogenic failure 2 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. http://purl.obolibrary.org/obo/UBERON_0001750 lacrimal apparatus http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/DOID_0061101 immunodeficiency 132A http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_0070186 Y-linked spermatogenic failure 1 http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. http://purl.obolibrary.org/obo/UBERON_0002204 musculoskeletal system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/DOID_0061102 hypertrophic cardiomyopathy 27 http://purl.obolibrary.org/obo/DOID_0080326 familial hypertrophic cardiomyopathy A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. http://purl.obolibrary.org/obo/DOID_0070187 Y-linked spermatogenic failure 2 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. http://purl.obolibrary.org/obo/UBERON_0002330 exocrine system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/DOID_0061169 autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome http://purl.obolibrary.org/obo/DOID_0061170 autoinflammation, panniculitis, and dermatosis syndrome An autoinflammation, panniculitis, and dermatosis syndrome characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing that has_material_basis_in heterozygous dominant-negative mutation in the OTULIN gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_0070188 spermatogenic failure 1 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. http://purl.obolibrary.org/obo/UBERON_0002416 integumental system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/TRANS_0000013 vehicle-borne medical transmission http://purl.obolibrary.org/obo/TRANS_0000010 vehicle-borne transmission Vehicle-borne medical transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by biological products including: blood, serum, plasma, tissue, or organs. http://purl.obolibrary.org/obo/DOID_0070189 X-linked spermatogenic failure 1 http://purl.obolibrary.org/obo/DOID_0050457 Sertoli cell-only syndrome A Sertoli cell-only syndrome characterized by X-linked inheritance. http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/SYMP_0000413 catatonia http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a marked psychomotor disturbance that may involve stupor or mutism, negativism, rigidity, purposeless excitement, echolalia, echopraxia, and inappropriate or bizarre posturing and is associated with various medical conditions (as schizophrenia and mood disorders). http://purl.obolibrary.org/obo/DOID_0070191 autosomal recessive chronic granulomatous disease 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. http://purl.obolibrary.org/obo/UBERON_0005409 alimentary part of gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/SYMP_0000606 nocturnal enuresis http://purl.obolibrary.org/obo/SYMP_0000492 urinary incontinence A urinary incontinence that is characterized by involuntary urination at night in children five years of age or older. http://purl.obolibrary.org/obo/DOID_0070192 autosomal recessive chronic granulomatous disease 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. http://purl.obolibrary.org/obo/UBERON_0004122 genitourinary system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/SYMP_0000508 aphasia http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by a loss or impairment of the power to use or comprehend words usually resulting from brain damage. http://purl.obolibrary.org/obo/DOID_0070193 autosomal recessive chronic granulomatous disease 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. http://purl.obolibrary.org/obo/UBERON_8450002 excretory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/SYMP_0000374 scrotal abscess http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by an abscess that is either superficial or intrascrotal. Superficial scrotal abscess may occur from an infected hair follicle, infection of a scrotal laceration, or minor scrotal surgery. Intrascrotal abscess most commonly arises from bacterial epididymitis, but may also be related to tuberculous infection of the epididymis, a testicular abscess that ruptures through the tunica albuginea, or drainage of appendicitis into scrotum through a patent processus vaginalis or as a result of extravasation of infected urine from the urethra in patients with a urethral stricture and neurogenic bladder using an external collection device. http://purl.obolibrary.org/obo/DOID_0070194 autosomal recessive chronic granulomatous disease 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/SYMP_0000423 pyrosis http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom From synonym: Heartburn is a pain characterized by a painful burning feeling in your chest or throat that happens when stomach acid backs up into your esophagus. http://purl.obolibrary.org/obo/DOID_0070195 X-linked chronic granulomatous disease http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. http://purl.obolibrary.org/obo/UBERON_0001829 major salivary gland http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/SYMP_0000214 anomia http://purl.obolibrary.org/obo/SYMP_0000508 aphasia An aphasia that is characterized by a severe problem with recalling words or names. http://purl.obolibrary.org/obo/DOID_0070196 infantile-onset distal myopathy http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. http://purl.obolibrary.org/obo/UBERON_0012102 buccal salivary gland http://purl.obolibrary.org/obo/UBERON_0001044 saliva-secreting gland http://purl.obolibrary.org/obo/SYMP_0000857 objective vertigo http://purl.obolibrary.org/obo/SYMP_0000399 vertigo A vertigo that is characterized by a sensation that the external world is revolving. http://purl.obolibrary.org/obo/DOID_0070197 distal myopathy 1 http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/UBERON_0001184 renal artery http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/DOID_0080173 bladder exstrophy-epispadias-cloacal exstrophy complex http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary artery http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/DOID_0110657 congenital myasthenic syndrome 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. http://purl.obolibrary.org/obo/DOID_0070199 Miyoshi muscular dystrophy 1 http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. http://purl.obolibrary.org/obo/UBERON_2005036 supraintestinal artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/DOID_0110658 congenital myasthenic syndrome 15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0070200 Miyoshi muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. http://purl.obolibrary.org/obo/UBERON_0035307 branch of vertebral artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/DOID_0110659 congenital myasthenic syndrome 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0070201 Miyoshi muscular dystrophy 3 http://purl.obolibrary.org/obo/DOID_0070198 Miyoshi muscular dystrophy A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. http://purl.obolibrary.org/obo/UBERON_0001194 splenic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/DOID_0110660 congenital myasthenic syndrome 12 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0070202 familial partial lipodystrophy type 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. http://purl.obolibrary.org/obo/UBERON_0001620 central retinal artery http://purl.obolibrary.org/obo/UBERON_0003501 retina blood vessel http://purl.obolibrary.org/obo/DOID_0110661 congenital myasthenic syndrome 20 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. http://purl.obolibrary.org/obo/DOID_0070203 familial partial lipodystrophy type 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. http://purl.obolibrary.org/obo/UBERON_0002458 spinal artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/DOID_0110662 congenital myasthenic syndrome 1B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. http://purl.obolibrary.org/obo/DOID_0070204 familial partial lipodystrophy type 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/DOID_0110663 congenital myasthenic syndrome 1A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. http://purl.obolibrary.org/obo/DOID_0070205 familial partial lipodystrophy type 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. http://purl.obolibrary.org/obo/UBERON_0004449 cerebral artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/DOID_0110664 congenital myasthenic syndrome 3C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0070206 familial partial lipodystrophy type 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/DOID_0110665 congenital myasthenic syndrome 3B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0070207 familial partial lipodystrophy type 1 http://purl.obolibrary.org/obo/DOID_0050440 familial partial lipodystrophy A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. http://purl.obolibrary.org/obo/UBERON_0005616 mesenteric artery http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/DOID_0110666 congenital myasthenic syndrome 3A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0070208 hereditary lymphedema IC http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/DOID_0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0070209 hereditary lymphedema ID http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. http://purl.obolibrary.org/obo/UBERON_0001724 sphenoidal sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/DOID_0110668 congenital myasthenic syndrome 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0070210 hereditary lymphedema IA http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. http://purl.obolibrary.org/obo/UBERON_0001760 frontal sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/DOID_0110669 congenital myasthenic syndrome 14 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0070211 hereditary lymphedema IB http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. http://purl.obolibrary.org/obo/UBERON_0001764 maxillary sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/DOID_0110670 congenital myasthenic syndrome 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. http://purl.obolibrary.org/obo/DOID_0070212 hereditary lymphedema I http://purl.obolibrary.org/obo/DOID_0050580 hereditary lymphedema A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. http://purl.obolibrary.org/obo/UBERON_0002453 ethmoid sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/DOID_0110671 congenital myasthenic syndrome 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. http://purl.obolibrary.org/obo/DOID_0070213 hereditary lymphedema II http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. http://purl.obolibrary.org/obo/UBERON_0002372 tonsil http://purl.obolibrary.org/obo/UBERON_0001962 gut-associated lymphoid tissue http://purl.obolibrary.org/obo/DOID_0110672 congenital myasthenic syndrome 21 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. http://purl.obolibrary.org/obo/DOID_0070214 familial hyperinsulinemic hypoglycemia 7 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. http://purl.obolibrary.org/obo/UBERON_0001962 gut-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001961 mucosa-associated lymphoid tissue http://purl.obolibrary.org/obo/DOID_0110673 congenital myasthenic syndrome 19 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0070215 familial hyperinsulinemic hypoglycemia 4 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. http://purl.obolibrary.org/obo/UBERON_0012330 nasal-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001962 gut-associated lymphoid tissue http://purl.obolibrary.org/obo/DOID_0110674 congenital myasthenic syndrome 17 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0070216 familial hyperinsulinemic hypoglycemia 3 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. http://purl.obolibrary.org/obo/UBERON_0000007 pituitary gland http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/DOID_0110675 congenital myasthenic syndrome 11 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0070217 familial hyperinsulinemic hypoglycemia 6 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. http://purl.obolibrary.org/obo/UBERON_0001132 parathyroid gland http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/DOID_0110676 congenital myasthenic syndrome 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_0070218 familial hyperinsulinemic hypoglycemia 2 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. http://purl.obolibrary.org/obo/UBERON_0002046 thyroid gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_0110677 congenital myasthenic syndrome 4B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0070219 familial hyperinsulinemic hypoglycemia 1 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. http://purl.obolibrary.org/obo/UBERON_0002370 thymus http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/DOID_0110678 congenital myasthenic syndrome 4A http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0070220 familial hyperinsulinemic hypoglycemia 5 http://purl.obolibrary.org/obo/DOID_13317 hyperinsulinemic hypoglycemia A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. http://purl.obolibrary.org/obo/UBERON_0006858 adrenal/interrenal gland http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/DOID_0110679 congenital myasthenic syndrome 4C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis http://purl.obolibrary.org/obo/DOID_1852 intrahepatic cholestasis An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0110680 congenital myasthenic syndrome 2C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0070222 progressive familial intrahepatic cholestasis 2 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/DOID_0110681 congenital myasthenic syndrome 2A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0070223 progressive familial intrahepatic cholestasis 3 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. http://purl.obolibrary.org/obo/UBERON_0000114 lung connective tissue http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/DOID_0110682 congenital myasthenic syndrome 16 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0070224 progressive familial intrahepatic cholestasis 4 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/DOID_0110683 developmental and epileptic encephalopathy 117 http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A developmental and epileptic encephalopathy that is characterized by global developmental delay, hypotonia, delayed walking or inability to walk, and variably impaired intellectual development with poor or absent speech and that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_0070225 progressive familial intrahepatic cholestasis 5 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. http://purl.obolibrary.org/obo/UBERON_0003570 respiratory system connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/DOID_0110698 hypotrichosis 1 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22. http://purl.obolibrary.org/obo/DOID_0070226 progressive familial intrahepatic cholestasis 1 http://purl.obolibrary.org/obo/DOID_0070221 progressive familial intrahepatic cholestasis A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. http://purl.obolibrary.org/obo/UBERON_0003580 lower respiratory tract connective tissue http://purl.obolibrary.org/obo/UBERON_0003570 respiratory system connective tissue http://purl.obolibrary.org/obo/DOID_0110699 hypotrichosis 2 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_0070227 intrahepatic cholestasis of pregnancy http://purl.obolibrary.org/obo/DOID_1852 intrahepatic cholestasis An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. http://purl.obolibrary.org/obo/UBERON_0003586 trunk connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/DOID_0110700 hypotrichosis 3 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0070228 intrahepatic cholestasis of pregnancy 1 http://purl.obolibrary.org/obo/DOID_0070227 intrahepatic cholestasis of pregnancy An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. http://purl.obolibrary.org/obo/UBERON_0003837 thoracic segment connective tissue http://purl.obolibrary.org/obo/UBERON_0003586 trunk connective tissue http://purl.obolibrary.org/obo/DOID_0110701 hypotrichosis 4 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. http://purl.obolibrary.org/obo/DOID_0070229 intrahepatic cholestasis of pregnancy 3 http://purl.obolibrary.org/obo/DOID_0070227 intrahepatic cholestasis of pregnancy An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/DOID_0110702 hypotrichosis 5 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. http://purl.obolibrary.org/obo/DOID_0070230 benign recurrent intrahepatic cholestasis http://purl.obolibrary.org/obo/DOID_1852 intrahepatic cholestasis An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/DOID_0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. http://purl.obolibrary.org/obo/DOID_0070231 benign recurrent intrahepatic cholestasis 1 http://purl.obolibrary.org/obo/DOID_0070230 benign recurrent intrahepatic cholestasis A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/DOID_0110704 hypotrichosis 7 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. http://purl.obolibrary.org/obo/DOID_0070232 benign recurrent intrahepatic cholestasis 2 http://purl.obolibrary.org/obo/DOID_0070230 benign recurrent intrahepatic cholestasis A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. http://purl.obolibrary.org/obo/UBERON_0019231 manual digit 1 or 5 http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/DOID_0110705 hypotrichosis 8 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2. http://purl.obolibrary.org/obo/DOID_0070233 Loeys-Dietz syndrome 4 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/DOID_0110706 hypotrichosis 9 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. http://purl.obolibrary.org/obo/DOID_0070234 Loeys-Dietz syndrome 2 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. http://purl.obolibrary.org/obo/UBERON_0004913 hepatopancreatic ampulla http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/DOID_0110707 hypotrichosis 10 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. http://purl.obolibrary.org/obo/DOID_0070235 Loeys-Dietz syndrome 1 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/DOID_0110708 hypotrichosis 11 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1. http://purl.obolibrary.org/obo/DOID_0070236 Loeys-Dietz syndrome 5 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. http://purl.obolibrary.org/obo/UBERON_0003135 male reproductive organ http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/DOID_0110709 hypotrichosis 12 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2. http://purl.obolibrary.org/obo/DOID_0070237 Loeys-Dietz syndrome 3 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. http://purl.obolibrary.org/obo/UBERON_0008811 intromittent organ http://purl.obolibrary.org/obo/UBERON_0003135 male reproductive organ http://purl.obolibrary.org/obo/DOID_0110710 hypotrichosis 13 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0070238 primary coenzyme Q10 deficiency 1 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. http://purl.obolibrary.org/obo/UBERON_0000029 lymph node http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0110711 congenital hypotrichosis with juvenile macular dystrophy http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0070239 primary coenzyme Q10 deficiency 2 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. http://purl.obolibrary.org/obo/UBERON_0002106 spleen http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/DOID_0110714 congenital stationary night blindness 1G http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0070240 primary coenzyme Q10 deficiency 3 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. http://purl.obolibrary.org/obo/UBERON_0001385 tibialis anterior http://purl.obolibrary.org/obo/UBERON_0008230 tibialis http://purl.obolibrary.org/obo/DOID_0110715 congenital stationary night blindness autosomal dominant 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0070241 primary coenzyme Q10 deficiency 4 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. http://purl.obolibrary.org/obo/UBERON_8440011 cortical visual area http://purl.obolibrary.org/obo/UBERON_0035014 functional part of brain http://purl.obolibrary.org/obo/DOID_0110862 congenital stationary night blindness autosomal dominant 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. http://purl.obolibrary.org/obo/DOID_0070242 primary coenzyme Q10 deficiency 5 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. http://purl.obolibrary.org/obo/UBERON_0001299 glans penis http://purl.obolibrary.org/obo/UBERON_0035651 glans http://purl.obolibrary.org/obo/DOID_0110863 congenital stationary night blindness autosomal dominant 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0070243 primary coenzyme Q10 deficiency 6 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/NCBITaxon_33278 Ancylostomatidae http://purl.obolibrary.org/obo/NCBITaxon_27829 Strongyloidea http://purl.obolibrary.org/obo/DOID_0110864 congenital stationary night blindness 1F http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. http://purl.obolibrary.org/obo/DOID_0070244 primary coenzyme Q10 deficiency 7 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. http://purl.obolibrary.org/obo/NCBITaxon_55271 Metastrongylidae http://purl.obolibrary.org/obo/NCBITaxon_27829 Strongyloidea http://purl.obolibrary.org/obo/DOID_0110865 congenital stationary night blindness 1B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0070245 primary coenzyme Q10 deficiency 8 http://purl.obolibrary.org/obo/DOID_0050730 coenzyme Q10 deficiency disease A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. http://purl.obolibrary.org/obo/NCBITaxon_119095 Capillaria http://purl.obolibrary.org/obo/NCBITaxon_455381 Capillariidae http://purl.obolibrary.org/obo/DOID_0110866 congenital stationary night blindness 1H http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0070246 X-linked Emery-Dreifuss muscular dystrophy 1 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. http://purl.obolibrary.org/obo/NCBITaxon_51031 Necator americanus http://purl.obolibrary.org/obo/NCBITaxon_51030 Necator http://purl.obolibrary.org/obo/DOID_0110867 congenital stationary night blindness 1C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. http://purl.obolibrary.org/obo/DOID_0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. http://purl.obolibrary.org/obo/NCBITaxon_6248 Strongyloides stercoralis http://purl.obolibrary.org/obo/NCBITaxon_6247 Strongyloides http://purl.obolibrary.org/obo/DOID_0110868 congenital stationary night blindness 1D http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22. http://purl.obolibrary.org/obo/DOID_0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0110869 congenital stationary night blindness 1E http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. http://purl.obolibrary.org/obo/NCBITaxon_1535325 Candida/Lodderomyces clade http://purl.obolibrary.org/obo/NCBITaxon_766764 Debaryomycetaceae http://purl.obolibrary.org/obo/DOID_0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. http://purl.obolibrary.org/obo/DOID_0110870 congenital stationary night blindness 1A http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_0110871 congenital stationary night blindness 2A http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0110872 holoprosencephaly 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. http://purl.obolibrary.org/obo/NCBITaxon_3981 Hevea brasiliensis http://purl.obolibrary.org/obo/NCBITaxon_3980 Hevea http://purl.obolibrary.org/obo/DOID_0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. http://purl.obolibrary.org/obo/DOID_0110873 holoprosencephaly 9 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. http://purl.obolibrary.org/obo/NCBITaxon_55194 Malassezia furfur http://purl.obolibrary.org/obo/NCBITaxon_55193 Malassezia http://purl.obolibrary.org/obo/DOID_0070251 X-linked Emery-Dreifuss muscular dystrophy 6 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. http://purl.obolibrary.org/obo/DOID_0110874 holoprosencephaly 6 http://purl.obolibrary.org/obo/DOID_4621 holoprosencephaly A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. http://purl.obolibrary.org/obo/NCBITaxon_6247 Strongyloides http://purl.obolibrary.org/obo/NCBITaxon_6246 Strongyloididae http://purl.obolibrary.org/obo/DOID_0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 http://purl.obolibrary.org/obo/DOID_11726 Emery-Dreifuss muscular dystrophy An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/DOID_0110875 holoprosencephaly 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. http://purl.obolibrary.org/obo/NCBITaxon_162474 Malasseziales http://purl.obolibrary.org/obo/NCBITaxon_1538075 Malasseziomycetes http://purl.obolibrary.org/obo/DOID_0070253 congenital disorder of glycosylation type IIa http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. http://purl.obolibrary.org/obo/DOID_0110876 holoprosencephaly 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/NCBITaxon_204428 Chlamydiota http://purl.obolibrary.org/obo/NCBITaxon_1783257 PVC group http://purl.obolibrary.org/obo/DOID_0070254 congenital disorder of glycosylation type IIb http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. http://purl.obolibrary.org/obo/DOID_0110877 holoprosencephaly 11 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. http://purl.obolibrary.org/obo/NCBITaxon_79922 Clonorchis http://purl.obolibrary.org/obo/NCBITaxon_6196 Opisthorchiidae http://purl.obolibrary.org/obo/DOID_0070255 congenital disorder of glycosylation type IIc http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. http://purl.obolibrary.org/obo/DOID_0110878 holoprosencephaly 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_0110879 holoprosencephaly 8 http://purl.obolibrary.org/obo/DOID_4621 holoprosencephaly A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. http://purl.obolibrary.org/obo/NCBITaxon_6264 Toxocara http://purl.obolibrary.org/obo/NCBITaxon_33259 Toxocaridae http://purl.obolibrary.org/obo/DOID_0070256 congenital disorder of glycosylation type IId http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. http://purl.obolibrary.org/obo/DOID_0110880 holoprosencephaly 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. http://purl.obolibrary.org/obo/NCBITaxon_53477 Bunostominae http://purl.obolibrary.org/obo/NCBITaxon_33278 Ancylostomatidae http://purl.obolibrary.org/obo/DOID_0070257 congenital disorder of glycosylation type IIe http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. http://purl.obolibrary.org/obo/DOID_0110881 holoprosencephaly 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. http://purl.obolibrary.org/obo/NCBITaxon_51030 Necator http://purl.obolibrary.org/obo/NCBITaxon_53477 Bunostominae http://purl.obolibrary.org/obo/DOID_0070258 congenital disorder of glycosylation type IIf http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_0110882 inflammatory bowel disease 7 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. http://purl.obolibrary.org/obo/HP_0031481 Abnormal mitral valve physiology http://purl.obolibrary.org/obo/HP_0031650 Abnormal atrioventricular valve physiology http://purl.obolibrary.org/obo/DOID_0070259 congenital disorder of glycosylation type IIg http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_0110883 inflammatory bowel disease 17 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. http://purl.obolibrary.org/obo/DOID_0110884 inflammatory bowel disease 23 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. http://purl.obolibrary.org/obo/HP_0031650 Abnormal atrioventricular valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/DOID_0070260 congenital disorder of glycosylation type IIh http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0110885 inflammatory bowel disease 10 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/DOID_0070261 congenital disorder of glycosylation type IIi http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. http://purl.obolibrary.org/obo/DOID_0110886 inflammatory bowel disease 9 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/NCBITaxon_2497574 Monjiviricetes http://purl.obolibrary.org/obo/DOID_0070262 congenital disorder of glycosylation type IIj http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0110887 inflammatory bowel disease 12 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3. http://purl.obolibrary.org/obo/NCBITaxon_11308 Orthomyxoviridae http://purl.obolibrary.org/obo/NCBITaxon_2499411 Articulavirales http://purl.obolibrary.org/obo/DOID_0070263 congenital disorder of glycosylation type IIk http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. http://purl.obolibrary.org/obo/DOID_0110888 inflammatory bowel disease 18 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. http://purl.obolibrary.org/obo/NCBITaxon_11229 Morbillivirus http://purl.obolibrary.org/obo/NCBITaxon_2560076 Orthoparamyxovirinae http://purl.obolibrary.org/obo/DOID_0070264 congenital disorder of glycosylation type IIl http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. http://purl.obolibrary.org/obo/DOID_0110889 inflammatory bowel disease 5 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. http://purl.obolibrary.org/obo/NCBITaxon_260964 Henipavirus http://purl.obolibrary.org/obo/NCBITaxon_2560076 Orthoparamyxovirinae http://purl.obolibrary.org/obo/DOID_0070265 congenital disorder of glycosylation type IIm http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0110890 inflammatory bowel disease 19 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. http://purl.obolibrary.org/obo/NCBITaxon_3433633 Betacoronavirus cameli http://purl.obolibrary.org/obo/NCBITaxon_2509494 Merbecovirus http://purl.obolibrary.org/obo/DOID_0070266 congenital disorder of glycosylation type IIn http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_0110891 inflammatory bowel disease 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. http://purl.obolibrary.org/obo/NCBITaxon_555406 Archamoebae http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/DOID_0070267 congenital disorder of glycosylation type IIo http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. http://purl.obolibrary.org/obo/DOID_0110892 inflammatory bowel disease 1 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. http://purl.obolibrary.org/obo/NCBITaxon_2497570 Haploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/DOID_0070268 congenital disorder of glycosylation type IIp http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. http://purl.obolibrary.org/obo/DOID_0110893 inflammatory bowel disease 13 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/DOID_0070269 congenital disorder of glycosylation type IIq http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. http://purl.obolibrary.org/obo/NCBITaxon_2497574 Monjiviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497570 Haploviricotina http://purl.obolibrary.org/obo/DOID_0110894 inflammatory bowel disease 11 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. http://purl.obolibrary.org/obo/DOID_0070270 hereditary nonpolyposis colorectal cancer type 8 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM. http://purl.obolibrary.org/obo/NCBITaxon_2497577 Insthoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/DOID_0110895 inflammatory bowel disease 14 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. http://purl.obolibrary.org/obo/DOID_0070271 Lynch syndrome 1 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. http://purl.obolibrary.org/obo/NCBITaxon_3151693 Bunyaviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/DOID_0110896 inflammatory bowel disease 16 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. http://purl.obolibrary.org/obo/DOID_0070272 hereditary nonpolyposis colorectal cancer type 5 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. http://purl.obolibrary.org/obo/NCBITaxon_2499411 Articulavirales http://purl.obolibrary.org/obo/NCBITaxon_2497577 Insthoviricetes http://purl.obolibrary.org/obo/DOID_0110897 inflammatory bowel disease 15 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. http://purl.obolibrary.org/obo/DOID_0070273 hereditary nonpolyposis colorectal cancer type 6 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22. http://purl.obolibrary.org/obo/NCBITaxon_3418604 Betacoronavirus pandemicum http://purl.obolibrary.org/obo/NCBITaxon_2509511 Sarbecovirus http://purl.obolibrary.org/obo/DOID_0110898 inflammatory bowel disease 20 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. http://purl.obolibrary.org/obo/DOID_0070274 hereditary nonpolyposis colorectal cancer type 2 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2. http://purl.obolibrary.org/obo/HP_0025745 Abnormal urine amino acid level http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level http://purl.obolibrary.org/obo/DOID_0110899 inflammatory bowel disease 28 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_0070275 hereditary nonpolyposis colorectal cancer type 4 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22. http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/NCBITaxon_3151693 Bunyaviricetes http://purl.obolibrary.org/obo/DOID_0110900 inflammatory bowel disease 2 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. http://purl.obolibrary.org/obo/DOID_0070276 hereditary nonpolyposis colorectal cancer type 7 http://purl.obolibrary.org/obo/DOID_3883 Lynch syndrome A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/CHEBI_83822 non-proteinogenic L-alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_83925 non-proteinogenic alpha-amino acid http://purl.obolibrary.org/obo/DOID_0110901 inflammatory bowel disease 26 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. http://purl.obolibrary.org/obo/DOID_0070277 primary autosomal recessive microcephaly 15 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. http://purl.obolibrary.org/obo/CHEBI_76224 aromatic ketone http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/DOID_0110902 inflammatory bowel disease 27 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3. http://purl.obolibrary.org/obo/DOID_0070278 primary autosomal recessive microcephaly 7 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33. http://purl.obolibrary.org/obo/CHEBI_102166 thiopental http://purl.obolibrary.org/obo/CHEBI_22693 barbiturates http://purl.obolibrary.org/obo/DOID_0110903 inflammatory bowel disease 4 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. http://purl.obolibrary.org/obo/DOID_0070279 primary autosomal recessive microcephaly 14 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. http://purl.obolibrary.org/obo/CHEBI_8069 phenobarbital http://purl.obolibrary.org/obo/CHEBI_22693 barbiturates http://purl.obolibrary.org/obo/DOID_0110904 inflammatory bowel disease 8 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. http://purl.obolibrary.org/obo/DOID_0070280 primary autosomal recessive microcephaly 5 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. http://purl.obolibrary.org/obo/CHEBI_22723 benzoic acids http://purl.obolibrary.org/obo/CHEBI_33859 aromatic carboxylic acid http://purl.obolibrary.org/obo/DOID_0110905 inflammatory bowel disease 22 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. http://purl.obolibrary.org/obo/DOID_0070281 primary autosomal recessive microcephaly 19 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. http://purl.obolibrary.org/obo/CHEBI_51683 methoxybenzenes http://purl.obolibrary.org/obo/CHEBI_35618 aromatic ether http://purl.obolibrary.org/obo/DOID_0110906 inflammatory bowel disease 21 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. http://purl.obolibrary.org/obo/DOID_0070282 primary autosomal recessive microcephaly 8 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. http://purl.obolibrary.org/obo/CHEBI_35871 oxo monocarboxylic acid http://purl.obolibrary.org/obo/CHEBI_25754 oxo carboxylic acid http://purl.obolibrary.org/obo/DOID_0110907 inflammatory bowel disease 6 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. http://purl.obolibrary.org/obo/DOID_0110908 inflammatory bowel disease 24 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0070283 primary autosomal recessive microcephaly 13 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. http://purl.obolibrary.org/obo/CHEBI_79020 alpha,beta-unsaturated monocarboxylic acid http://purl.obolibrary.org/obo/CHEBI_25384 monocarboxylic acid http://purl.obolibrary.org/obo/DOID_0110909 inflammatory bowel disease 25 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0070284 primary autosomal recessive microcephaly 12 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21. http://purl.obolibrary.org/obo/CHEBI_9334 sulfasalazine http://purl.obolibrary.org/obo/CHEBI_22682 azobenzenes http://purl.obolibrary.org/obo/DOID_0110913 adult hypophosphatasia http://purl.obolibrary.org/obo/DOID_14213 hypophosphatasia A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. http://purl.obolibrary.org/obo/CHEBI_37667 sesquiterpene lactone http://purl.obolibrary.org/obo/CHEBI_37668 terpene lactone http://purl.obolibrary.org/obo/DOID_0070285 primary autosomal recessive microcephaly 1 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. http://purl.obolibrary.org/obo/DOID_0110914 infantile hypophosphatasia http://purl.obolibrary.org/obo/DOID_14213 hypophosphatasia A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. http://purl.obolibrary.org/obo/CHEBI_36181 succinate ester http://purl.obolibrary.org/obo/CHEBI_33308 carboxylic ester http://purl.obolibrary.org/obo/DOID_0070286 primary autosomal recessive microcephaly 3 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. http://purl.obolibrary.org/obo/DOID_0110915 childhood hypophosphatasia http://purl.obolibrary.org/obo/DOID_14213 hypophosphatasia A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12. http://purl.obolibrary.org/obo/CHEBI_25384 monocarboxylic acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/DOID_0070287 primary autosomal recessive microcephaly 11 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. http://purl.obolibrary.org/obo/DOID_0110916 hereditary spherocytosis type 1 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/CHEBI_25754 oxo carboxylic acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/DOID_0070288 primary autosomal recessive microcephaly 17 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0110917 hereditary spherocytosis type 2 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. http://purl.obolibrary.org/obo/CHEBI_15705 L-alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/DOID_0070289 primary autosomal recessive microcephaly 16 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0110918 hereditary spherocytosis type 3 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. http://purl.obolibrary.org/obo/CHEBI_38179 monocyclic heteroarene http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/DOID_0070290 primary autosomal recessive microcephaly 6 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. http://purl.obolibrary.org/obo/CHEBI_22712 benzenes http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/CHEBI_26195 polyphenol http://purl.obolibrary.org/obo/CHEBI_33853 phenols http://purl.obolibrary.org/obo/CHEBI_34444 4-tert-butylphenol http://purl.obolibrary.org/obo/CHEBI_33853 phenols http://purl.obolibrary.org/obo/DOID_0110919 hereditary spherocytosis type 4 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_0110920 hereditary spherocytosis type 5 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. http://purl.obolibrary.org/obo/DOID_0070291 primary autosomal recessive microcephaly 4 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. http://purl.obolibrary.org/obo/CHEBI_22315 alkaloid http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/DOID_0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. http://purl.obolibrary.org/obo/DOID_0070292 primary autosomal recessive microcephaly 9 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/DOID_0110922 familial hemophagocytic lymphohistiocytosis 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/DOID_0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. http://purl.obolibrary.org/obo/CHEBI_83821 amino-acid derivative http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/DOID_0110923 familial hemophagocytic lymphohistiocytosis 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_0110924 familial hemophagocytic lymphohistiocytosis 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. http://purl.obolibrary.org/obo/DOID_0070294 primary autosomal recessive microcephaly 10 http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13. http://purl.obolibrary.org/obo/CHEBI_24436 guanidines http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/DOID_0110925 familial hemophagocytic lymphohistiocytosis 5 http://purl.obolibrary.org/obo/DOID_0050177 monogenic disease A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_0070295 primary autosomal dominant microcephaly 18 http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. http://purl.obolibrary.org/obo/CHEBI_87228 sulfonamide antibiotic http://purl.obolibrary.org/obo/CHEBI_35358 sulfonamide http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver Any compound that can disrupt the functions of the endocrine (hormone) system. http://purl.obolibrary.org/obo/DOID_0070296 autosomal recessive primary microcephaly http://purl.obolibrary.org/obo/DOID_0070297 primary microcephaly A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. http://purl.obolibrary.org/obo/CHEBI_9332 sulfamethoxazole http://purl.obolibrary.org/obo/CHEBI_87228 sulfonamide antibiotic http://purl.obolibrary.org/obo/NCIT_C391 Copper http://purl.obolibrary.org/obo/CHEBI_33284 nutrient An element with atomic symbol Cu, atomic number 29, and atomic weight 63. http://purl.obolibrary.org/obo/DOID_0070297 primary microcephaly http://purl.obolibrary.org/obo/DOID_10907 microcephaly A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/DOID_0080354 Phelan-McDermid syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. http://purl.obolibrary.org/obo/DOID_0070298 multiple epiphyseal dysplasia 2 http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0070299 multiple epiphyseal dysplasia 5 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. http://purl.obolibrary.org/obo/CHEBI_33308 carboxylic ester http://purl.obolibrary.org/obo/CHEBI_35701 ester http://purl.obolibrary.org/obo/DOID_0080355 hepatobiliary system cancer http://purl.obolibrary.org/obo/DOID_3119 gastrointestinal system cancer A gastrointestinal system cancer that is located_in the hepatobiliary system. http://purl.obolibrary.org/obo/DOID_0070300 multiple epiphyseal dysplasia 4 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/DOID_0080356 IgG4-related disease http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. http://purl.obolibrary.org/obo/DOID_0070301 multiple epiphyseal dysplasia 6 http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. http://purl.obolibrary.org/obo/CHEBI_17478 aldehyde http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/DOID_0080357 mitochondrial complex IV deficiency nuclear type 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0070302 multiple epiphyseal dysplasia 7 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. http://purl.obolibrary.org/obo/CHEBI_35873 carboxylic anhydride http://purl.obolibrary.org/obo/CHEBI_36606 acid anhydride http://purl.obolibrary.org/obo/DOID_0080358 mitochondrial complex IV deficiency nuclear type 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0070303 multiple epiphyseal dysplasia 1 http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. http://purl.obolibrary.org/obo/CHEBI_35701 ester http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/DOID_0080359 mitochondrial complex IV deficiency nuclear type 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_0070304 multiple epiphyseal dysplasia 3 http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/DOID_0080360 mitochondrial complex IV deficiency nuclear type 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly http://purl.obolibrary.org/obo/DOID_12721 multiple epiphyseal dysplasia A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). http://purl.obolibrary.org/obo/CHEBI_26596 salicylates http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/DOID_0080361 trimethylaminuria http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by the inability to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. http://purl.obolibrary.org/obo/DOID_0080362 X-linked spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_0070306 post-cardiac arrest syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies. http://purl.obolibrary.org/obo/CHEBI_29347 monocarboxylic acid amide http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/DOID_0080363 mitochondrial pyruvate carrier deficiency http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. http://purl.obolibrary.org/obo/DOID_0070307 craniolenticulosutural dysplasia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. http://purl.obolibrary.org/obo/CHEBI_38337 pyrimidone http://purl.obolibrary.org/obo/CHEBI_39447 pyrimidines http://purl.obolibrary.org/obo/DOID_0080365 endometrial hyperplasia http://purl.obolibrary.org/obo/DOID_0060095 uterine benign neoplasm An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. http://purl.obolibrary.org/obo/DOID_0070308 rippling muscle disease 1 http://purl.obolibrary.org/obo/DOID_66 muscle tissue disease A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. http://purl.obolibrary.org/obo/CHEBI_38418 1,3-thiazoles http://purl.obolibrary.org/obo/CHEBI_48901 thiazoles http://purl.obolibrary.org/obo/DOID_0080366 desmoid tumor http://purl.obolibrary.org/obo/DOID_0060123 connective tissue benign neoplasm A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. http://purl.obolibrary.org/obo/DOID_0070309 absence epilepsy http://purl.obolibrary.org/obo/DOID_0050701 electroclinical syndrome An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. http://purl.obolibrary.org/obo/CHEBI_78840 olefinic compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/DOID_0080367 chronic eosinophilic leukemia http://purl.obolibrary.org/obo/DOID_1036 chronic leukemia A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. http://purl.obolibrary.org/obo/DOID_0070310 drug-induced hearing loss http://purl.obolibrary.org/obo/DOID_0050563 nonsyndromic deafness A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity. http://purl.obolibrary.org/obo/CHEBI_72588 semisynthetic derivative http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/DOID_0080368 sex cord-stromal benign neoplasm http://purl.obolibrary.org/obo/DOID_0050622 reproductive organ benign neoplasm A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. http://purl.obolibrary.org/obo/DOID_0070311 oligoasthenoteratozoospermia http://purl.obolibrary.org/obo/DOID_12336 male infertility A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility. http://purl.obolibrary.org/obo/CHEBI_64709 organic acid http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/DOID_0080369 ovarian sex-cord stromal tumor http://purl.obolibrary.org/obo/DOID_192 sex cord-gonadal stromal tumor A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. http://purl.obolibrary.org/obo/DOID_0070314 obstructive nephropathy http://purl.obolibrary.org/obo/DOID_557 kidney disease A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. http://purl.obolibrary.org/obo/DOID_0070315 hypoplastic right heart syndrome http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. http://purl.obolibrary.org/obo/CHEBI_36606 acid anhydride http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/CHEBI_51069 organic halide salt http://purl.obolibrary.org/obo/CHEBI_24868 organic salt http://purl.obolibrary.org/obo/DOID_0080370 ovarian sex cord-stromal benign neoplasm http://purl.obolibrary.org/obo/DOID_0080368 sex cord-stromal benign neoplasm A sex cord-stromal benign neoplasm that arises from the ovary. http://purl.obolibrary.org/obo/DOID_0070316 Miura type epiphyseal chondrodysplasia http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. http://purl.obolibrary.org/obo/CHEBI_128458 disodium cromoglycate http://purl.obolibrary.org/obo/CHEBI_38700 organic sodium salt http://purl.obolibrary.org/obo/DOID_0080371 testicular sex cord-stromal benign neoplasm http://purl.obolibrary.org/obo/DOID_0080368 sex cord-stromal benign neoplasm A sex cord-stromal benign neoplasm that arises from the testis. http://purl.obolibrary.org/obo/DOID_0080320 peripheral nervous system benign neoplasm http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm the is located_in the peripheral nervous system. http://purl.obolibrary.org/obo/DOID_0080372 epithelioid inflammatory myofibroblastic sarcoma http://purl.obolibrary.org/obo/DOID_0050905 inflammatory myofibroblastic tumor An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. http://purl.obolibrary.org/obo/CHEBI_53767 chloramine T http://purl.obolibrary.org/obo/CHEBI_38700 organic sodium salt http://purl.obolibrary.org/obo/DOID_0080321 autonomic nervous system benign neoplasm http://purl.obolibrary.org/obo/DOID_0080320 peripheral nervous system benign neoplasm A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system. http://purl.obolibrary.org/obo/DOID_0080373 epididymis disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease A male reproductive system disease that is located_in the epididymis. http://purl.obolibrary.org/obo/CHEBI_24583 hexitol http://purl.obolibrary.org/obo/CHEBI_17522 alditol http://purl.obolibrary.org/obo/DOID_0080322 polycystic kidney disease http://purl.obolibrary.org/obo/DOID_2975 cystic kidney disease A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. http://purl.obolibrary.org/obo/CHEBI_47857 ureas http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/DOID_0080597 Kleefstra syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. http://purl.obolibrary.org/obo/CHEBI_48369 organic bromide salt http://purl.obolibrary.org/obo/CHEBI_51069 organic halide salt http://purl.obolibrary.org/obo/CHEBI_26822 sulfide http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/DOID_0080323 pancreatic squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma A squamous cell carcinoma located in the pancreas. http://purl.obolibrary.org/obo/DOID_0080598 Kleefstra syndrome 2 http://purl.obolibrary.org/obo/DOID_0080597 Kleefstra syndrome A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum. http://purl.obolibrary.org/obo/CHEBI_33424 sulfur oxoacid derivative http://purl.obolibrary.org/obo/CHEBI_33241 oxoacid derivative http://purl.obolibrary.org/obo/DOID_0080324 tuberous sclerosis 1 http://purl.obolibrary.org/obo/DOID_13515 tuberous sclerosis A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/CHEBI_25985 phenylalanine derivative http://purl.obolibrary.org/obo/CHEBI_83821 amino-acid derivative http://purl.obolibrary.org/obo/DOID_0080601 germ cell benign neoplasm http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A benign neoplasm that derives_from germ cells. http://purl.obolibrary.org/obo/DOID_0080325 tuberous sclerosis 2 http://purl.obolibrary.org/obo/DOID_13515 tuberous sclerosis A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0080326 familial hypertrophic cardiomyopathy http://purl.obolibrary.org/obo/DOID_11984 hypertrophic cardiomyopathy A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. http://purl.obolibrary.org/obo/DOID_60000 appendix disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease A gastrointestinal system disease that is located_in the appendix. http://purl.obolibrary.org/obo/DOID_0111593 distal arthrogryposis type 10 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. http://purl.obolibrary.org/obo/CHEBI_33363 palladium http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma http://purl.obolibrary.org/obo/DOID_0080638 B-cell acute lymphoblastic leukemia A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. http://purl.obolibrary.org/obo/DOID_0111594 distal arthrogryposis type 5D http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. http://purl.obolibrary.org/obo/CHEBI_3614 chlorhexidine http://purl.obolibrary.org/obo/CHEBI_83403 monochlorobenzenes http://purl.obolibrary.org/obo/DOID_0080994 autoimmune epilepsy http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. http://purl.obolibrary.org/obo/CHEBI_33350 chromium group element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/DOID_0111595 congenital contractural arachnodactyly http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. http://purl.obolibrary.org/obo/DOID_0070355 overactive bladder syndrome http://purl.obolibrary.org/obo/DOID_365 bladder disease A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies. http://purl.obolibrary.org/obo/DOID_0081267 graft-versus-host disease http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. http://purl.obolibrary.org/obo/CHEBI_33362 nickel group element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/DOID_0111597 distal arthrogryposis type 1A http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_0081268 pulmonary venoocclusive disease 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/DOID_0111598 distal arthrogryposis type 1B http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. http://purl.obolibrary.org/obo/DOID_0081269 pulmonary venoocclusive disease 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. http://purl.obolibrary.org/obo/DOID_0111600 distal arthrogryposis type 2B1 http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/DOID_0081270 Smith-McCort dysplasia 1 http://purl.obolibrary.org/obo/DOID_0060247 Smith-McCort dysplasia A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0111601 distal arthrogryposis type 2B2 http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/CHEBI_33597 homocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/DOID_0081271 Smith-McCort dysplasia 2 http://purl.obolibrary.org/obo/DOID_0060247 Smith-McCort dysplasia A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/DOID_0111602 distal arthrogryposis type 2B3 http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0081272 Sandestig-Stefanova syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/DOID_0081273 Siddiqi syndrome http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0081274 peroxisome biogenesis disorder 14B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0111603 distal arthrogryposis type 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/CHEBI_33661 monocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/DOID_0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. http://purl.obolibrary.org/obo/DOID_0111604 Freeman-Sheldon syndrome http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. http://purl.obolibrary.org/obo/CHEBI_36688 heterotricyclic compound http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/DOID_0081276 cerebellar atrophy, visual impairment, and psychomotor retardation http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0111605 distal arthrogryposis type 2A http://purl.obolibrary.org/obo/DOID_0111604 Freeman-Sheldon syndrome A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/CHEBI_37175 organic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/DOID_0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype http://purl.obolibrary.org/obo/DOID_3070 high grade glioma A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. http://purl.obolibrary.org/obo/DOID_0111606 autosomal recessive Whistling face syndrome http://purl.obolibrary.org/obo/DOID_0111604 Freeman-Sheldon syndrome A Freeman-Sheldon syndrome that has autosomal recessive inheritance. http://purl.obolibrary.org/obo/CHEBI_51403 1,4-phenylenediamine http://purl.obolibrary.org/obo/CHEBI_51402 phenylenediamine http://purl.obolibrary.org/obo/CHEBI_53555 toluene meta-diisocyanate http://purl.obolibrary.org/obo/CHEBI_53213 diisocyanate http://purl.obolibrary.org/obo/DOID_0081278 infant-type hemispheric glioma http://purl.obolibrary.org/obo/DOID_3069 malignant astrocytoma A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. http://purl.obolibrary.org/obo/DOID_0111607 distal arthrogryposis type 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. http://purl.obolibrary.org/obo/CHEBI_53578 hexamethylene diisocyanate http://purl.obolibrary.org/obo/CHEBI_53213 diisocyanate http://purl.obolibrary.org/obo/DOID_0081279 diffuse astrocytoma, MYB- or MYBL1-altered http://purl.obolibrary.org/obo/DOID_4857 diffuse astrocytoma A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. http://purl.obolibrary.org/obo/DOID_0111608 distal arthrogryposis type 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. http://purl.obolibrary.org/obo/HP_0011001 Increased bone mineral density http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/DOID_0081280 pituicytoma http://purl.obolibrary.org/obo/DOID_5048 posterior pituitary gland neoplasm A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. http://purl.obolibrary.org/obo/DOID_0111609 distal arthrogryposis type 6 http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. http://purl.obolibrary.org/obo/HP_0005339 Abnormality of complement system http://purl.obolibrary.org/obo/HP_0005368 Abnormality of humoral immunity http://purl.obolibrary.org/obo/DOID_0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 http://purl.obolibrary.org/obo/DOID_0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). http://purl.obolibrary.org/obo/DOID_0111610 distal arthrogryposis type 4 http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. http://purl.obolibrary.org/obo/HP_0009815 Aplasia/hypoplasia of the extremities http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/DOID_0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 http://purl.obolibrary.org/obo/DOID_0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. http://purl.obolibrary.org/obo/DOID_0111611 autosomal recessive spinocerebellar ataxia 4 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. http://purl.obolibrary.org/obo/HP_0010884 Acromelia http://purl.obolibrary.org/obo/HP_0009815 Aplasia/hypoplasia of the extremities http://purl.obolibrary.org/obo/DOID_0081283 papillary glioneuronal tumor http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. http://purl.obolibrary.org/obo/DOID_0111613 autosomal recessive spinocerebellar ataxia 23 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. http://purl.obolibrary.org/obo/HP_0010957 Congenital posterior urethral valve http://purl.obolibrary.org/obo/HP_0034378 Urethrovesical occlusion http://purl.obolibrary.org/obo/DOID_0081284 rosette-forming glioneuronal tumor http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. http://purl.obolibrary.org/obo/DOID_0111614 autosomal recessive spinocerebellar ataxia 22 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/HP_0000272 Malar flattening http://purl.obolibrary.org/obo/HP_0010668 Abnormal zygomatic bone morphology http://purl.obolibrary.org/obo/DOID_0081285 myxoid glioneuronal tumor http://purl.obolibrary.org/obo/DOID_0060090 central nervous system benign neoplasm A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. http://purl.obolibrary.org/obo/DOID_0111615 autosomal recessive spinocerebellar ataxia 24 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. http://purl.obolibrary.org/obo/HP_0004313 Decreased circulating immunoglobulin concentration http://purl.obolibrary.org/obo/HP_0010701 Abnormal circulating immunoglobulin concentration http://purl.obolibrary.org/obo/DOID_0111616 autosomal recessive spinocerebellar ataxia 27 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. http://purl.obolibrary.org/obo/DOID_0081286 embryonal tumor with multilayered rosettes http://purl.obolibrary.org/obo/DOID_0060103 central nervous system embryonal tumor A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. http://purl.obolibrary.org/obo/HP_0011129 Bilateral fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/DOID_0111617 autosomal recessive spinocerebellar ataxia 6 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. http://purl.obolibrary.org/obo/DOID_0081366 Paget disease of bone 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/DOID_0111618 autosomal recessive spinocerebellar ataxia 8 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. http://purl.obolibrary.org/obo/DOID_0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. http://purl.obolibrary.org/obo/HP_0100034 Motor tics http://purl.obolibrary.org/obo/HP_0100033 Tics http://purl.obolibrary.org/obo/DOID_0111619 combined D-2- and L-2-hydroxyglutaric aciduria http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_0081367 Paget disease of bone 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. http://purl.obolibrary.org/obo/HP_0100035 Phonic tics http://purl.obolibrary.org/obo/HP_4000074 Involuntary vocalization http://purl.obolibrary.org/obo/DOID_0111620 corneal dystrophy-perceptive deafness syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_0111621 Temtamy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. http://purl.obolibrary.org/obo/DOID_0060912 craniosynostosis 7 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. http://purl.obolibrary.org/obo/NCBITaxon_131567 cellular organisms http://purl.obolibrary.org/obo/NCBITaxon_1 ncbitaxon http://purl.obolibrary.org/obo/DOID_0111622 ACTH-independent macronodular adrenal hyperplasia http://purl.obolibrary.org/obo/DOID_446 primary hyperaldosteronism A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. http://purl.obolibrary.org/obo/DOID_0111623 ACTH-independent macronodular adrenal hyperplasia 1 http://purl.obolibrary.org/obo/DOID_0111622 ACTH-independent macronodular adrenal hyperplasia An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. http://purl.obolibrary.org/obo/DOID_0111624 ACTH-independent macronodular adrenal hyperplasia 2 http://purl.obolibrary.org/obo/DOID_0111622 ACTH-independent macronodular adrenal hyperplasia An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. http://purl.obolibrary.org/obo/NCBITaxon_2787823 unclassified entries http://purl.obolibrary.org/obo/NCBITaxon_1 ncbitaxon http://purl.obolibrary.org/obo/DOID_0111625 ventriculomegaly - cystic kidney disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_0060914 proteosome-associated autoinflammatory syndrome 2 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. http://purl.obolibrary.org/obo/NCBITaxon_3655 Cucumis http://purl.obolibrary.org/obo/NCBITaxon_1003877 Benincaseae http://purl.obolibrary.org/obo/DOID_0111626 D-glyceric aciduria http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. http://purl.obolibrary.org/obo/DOID_0060915 proteosome-associated autoinflammatory syndrome 4 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/DOID_0111627 DOORS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0060916 proteasome-associated autoinflammatory syndrome 3 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21. http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/DOID_0111628 high myopia-sensorineural deafness syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. http://purl.obolibrary.org/obo/DOID_0060917 facioscapulohumeral muscular dystrophy 3 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. http://purl.obolibrary.org/obo/NCBITaxon_10116 Rattus norvegicus http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/DOID_0111629 dihydropyrimidinase deficiency http://purl.obolibrary.org/obo/DOID_0050832 pyrimidine metabolic disorder A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3. http://purl.obolibrary.org/obo/DOID_0060918 facioscapulohumeral muscular dystrophy 4 http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. http://purl.obolibrary.org/obo/NCBITaxon_39030 Apodemus agrarius http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/DOID_0111630 familial erythrocytosis 8 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. http://purl.obolibrary.org/obo/DOID_0060919 proteosome-associated autoinflammatory syndrome 5 http://purl.obolibrary.org/obo/DOID_0060913 proteosome-associated autoinflammatory syndrome A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/DOID_0111631 familial erythrocytosis 7 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0070470 chromosome 1p36.33 duplication syndrome http://purl.obolibrary.org/obo/DOID_0060429 chromosomal duplication syndrome A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/NCBITaxon_10240 Poxviridae http://purl.obolibrary.org/obo/DOID_0111632 familial erythrocytosis 6 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. http://purl.obolibrary.org/obo/DOID_0070473 Zaki syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/DOID_0111633 congenital sucrase-isomaltase deficiency http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. http://purl.obolibrary.org/obo/DOID_0070474 childhood-onset neurodegeneration with brain atrophy http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/NCBITaxon_10257 Parapoxvirus http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/DOID_0111634 autosomal recessive nonsyndromic deafness 99 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_0070485 mitochondrial complex IV deficiency nuclear type 23 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. http://purl.obolibrary.org/obo/NCBITaxon_10278 Molluscipoxvirus http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/DOID_0111635 autosomal recessive nonsyndromic deafness 57 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/DOID_0070486 Parkinson's disease 25 http://purl.obolibrary.org/obo/DOID_0060894 early-onset Parkinson's disease An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. http://purl.obolibrary.org/obo/NCBITaxon_3431481 Orthopoxvirus cowpox http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/DOID_0111636 autosomal recessive nonsyndromic deafness 113 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070487 dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33. http://purl.obolibrary.org/obo/NCBITaxon_3431483 Orthopoxvirus monkeypox http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/DOID_0111637 autosomal recessive nonsyndromic deafness 112 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. http://purl.obolibrary.org/obo/DOID_0070488 atypical dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/DOID_0070487 dopamine transporter deficiency syndrome A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. http://purl.obolibrary.org/obo/NCBITaxon_3431487 Orthopoxvirus variola http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/DOID_0111638 autosomal recessive nonsyndromic deafness 100 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. http://purl.obolibrary.org/obo/DOID_0070489 classic dopamine transporter deficiency syndrome http://purl.obolibrary.org/obo/DOID_0070487 dopamine transporter deficiency syndrome A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. http://purl.obolibrary.org/obo/NCBITaxon_3431390 Parapoxvirus pseudocowpox http://purl.obolibrary.org/obo/NCBITaxon_10257 Parapoxvirus http://purl.obolibrary.org/obo/DOID_0111639 autosomal recessive nonsyndromic deafness 109 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_0070490 infantile parkinsonism-dystonia 2 http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. http://purl.obolibrary.org/obo/NCBITaxon_3431389 Parapoxvirus orf http://purl.obolibrary.org/obo/NCBITaxon_10257 Parapoxvirus http://purl.obolibrary.org/obo/DOID_0111640 autosomal recessive nonsyndromic deafness 111 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. http://purl.obolibrary.org/obo/DOID_0070492 mitochondrial complex IV deficiency nuclear type 3 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. http://purl.obolibrary.org/obo/NCBITaxon_3430922 Molluscipoxvirus molluscum http://purl.obolibrary.org/obo/NCBITaxon_10278 Molluscipoxvirus http://purl.obolibrary.org/obo/DOID_0111641 autosomal recessive nonsyndromic deafness 94 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_0070493 mitochondrial complex IV deficiency nuclear type 4 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/NCBITaxon_10294 Simplexvirus http://purl.obolibrary.org/obo/NCBITaxon_10293 Alphaherpesvirinae http://purl.obolibrary.org/obo/DOID_0111642 autosomal recessive nonsyndromic deafness 114 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_0070494 mitochondrial complex IV deficiency nuclear type 7 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. http://purl.obolibrary.org/obo/NCBITaxon_10319 Varicellovirus http://purl.obolibrary.org/obo/NCBITaxon_10293 Alphaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3050292 Simplexvirus humanalpha1 http://purl.obolibrary.org/obo/NCBITaxon_10294 Simplexvirus http://purl.obolibrary.org/obo/DOID_0111643 autosomal recessive nonsyndromic deafness 115 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0070495 mitochondrial complex IV deficiency nuclear type 8 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/NCBITaxon_3050293 Simplexvirus humanalpha2 http://purl.obolibrary.org/obo/NCBITaxon_10294 Simplexvirus http://purl.obolibrary.org/obo/DOID_0111644 autosomal recessive nonsyndromic deafness 110 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_0070496 mitochondrial complex IV deficiency nuclear type 10 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. http://purl.obolibrary.org/obo/NCBITaxon_3050294 Varicellovirus humanalpha3 http://purl.obolibrary.org/obo/NCBITaxon_10319 Varicellovirus http://purl.obolibrary.org/obo/DOID_0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0070497 mitochondrial complex IV deficiency nuclear type 11 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/NCBITaxon_10357 Betaherpesvirinae http://purl.obolibrary.org/obo/DOID_0111646 congenital lactase deficiency http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. http://purl.obolibrary.org/obo/DOID_0070498 mitochondrial complex IV deficiency nuclear type 12 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/NCBITaxon_10358 Cytomegalovirus http://purl.obolibrary.org/obo/NCBITaxon_10357 Betaherpesvirinae http://purl.obolibrary.org/obo/DOID_0111647 Schopf-Schulz-Passarge syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_0070499 mitochondrial complex IV deficiency nuclear type 14 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/NCBITaxon_10375 Lymphocryptovirus http://purl.obolibrary.org/obo/NCBITaxon_10374 Gammaherpesvirinae http://purl.obolibrary.org/obo/DOID_0111648 ectopia lentis with ectopia of pupil http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. http://purl.obolibrary.org/obo/DOID_0070500 mitochondrial complex IV deficiency nuclear type 15 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/NCBITaxon_10379 Rhadinovirus http://purl.obolibrary.org/obo/NCBITaxon_10374 Gammaherpesvirinae http://purl.obolibrary.org/obo/DOID_0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_0070501 mitochondrial complex IV deficiency nuclear type 16 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/NCBITaxon_3050299 Lymphocryptovirus humangamma4 http://purl.obolibrary.org/obo/NCBITaxon_10375 Lymphocryptovirus http://purl.obolibrary.org/obo/DOID_0111650 ectodermal dysplasia 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. http://purl.obolibrary.org/obo/DOID_0070502 mitochondrial complex IV deficiency nuclear type 17 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. http://purl.obolibrary.org/obo/NCBITaxon_3050300 Rhadinovirus humangamma8 http://purl.obolibrary.org/obo/NCBITaxon_10379 Rhadinovirus http://purl.obolibrary.org/obo/DOID_0111651 ectodermal dysplasia 15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/DOID_0070503 mitochondrial complex IV deficiency nuclear type 18 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/NCBITaxon_10404 Hepadnaviridae http://purl.obolibrary.org/obo/DOID_0111652 ectodermal dysplasia 12 http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11. http://purl.obolibrary.org/obo/DOID_0070504 mitochondrial complex IV deficiency nuclear type 19 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. http://purl.obolibrary.org/obo/NCBITaxon_3431302 Orthohepadnavirus hominoidei http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/DOID_0111653 ectodermal dysplasia 11A http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. http://purl.obolibrary.org/obo/DOID_0070505 mitochondrial complex IV deficiency nuclear type 20 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. http://purl.obolibrary.org/obo/NCBITaxon_10509 Mastadenovirus http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/DOID_0111654 ectodermal dysplasia 11B http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. http://purl.obolibrary.org/obo/DOID_0070506 mitochondrial complex IV deficiency nuclear type 21 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. http://purl.obolibrary.org/obo/NCBITaxon_3241406 Mastadenovirus blackbeardi http://purl.obolibrary.org/obo/NCBITaxon_10509 Mastadenovirus http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. http://purl.obolibrary.org/obo/DOID_0070507 mitochondrial complex IV deficiency nuclear type 22 http://purl.obolibrary.org/obo/DOID_0081377 COX deficiency, benign infantile mitochondrial myopathy A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. http://purl.obolibrary.org/obo/NCBITaxon_7158 Aedes http://purl.obolibrary.org/obo/NCBITaxon_1056966 Aedini http://purl.obolibrary.org/obo/DOID_0111656 ectodermal dysplasia 9 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0070508 metabolic dysfunction and alcohol associated liver disease http://purl.obolibrary.org/obo/DOID_9452 steatotic liver disease A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. http://purl.obolibrary.org/obo/NCBITaxon_190765 Ochlerotatus http://purl.obolibrary.org/obo/NCBITaxon_1056966 Aedini http://purl.obolibrary.org/obo/DOID_0111657 ectodermal dysplasia 5 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1. http://purl.obolibrary.org/obo/DOID_0081383 ataxia-oculomotor apraxia 4 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. http://purl.obolibrary.org/obo/NCBITaxon_945 Ehrlichia chaffeensis http://purl.obolibrary.org/obo/NCBITaxon_106178 canis group http://purl.obolibrary.org/obo/DOID_0111658 ectodermal dysplasia 4 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0081384 ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. http://purl.obolibrary.org/obo/NCBITaxon_951 Ehrlichia sennetsu http://purl.obolibrary.org/obo/NCBITaxon_106178 canis group http://purl.obolibrary.org/obo/DOID_0111659 ectodermal dysplasia 6 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2. http://purl.obolibrary.org/obo/DOID_0081385 ataxia-telangiectasia-like disorder 2 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. http://purl.obolibrary.org/obo/NCBITaxon_948 Anaplasma phagocytophilum http://purl.obolibrary.org/obo/NCBITaxon_106179 phagocytophilum group http://purl.obolibrary.org/obo/DOID_0111660 ectodermal dysplasia 7 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0081386 TANGO2-related metabolic encephalopathy and arrythmias http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. http://purl.obolibrary.org/obo/NCBITaxon_40119 Parvovirinae http://purl.obolibrary.org/obo/NCBITaxon_10780 Parvoviridae http://purl.obolibrary.org/obo/DOID_0111661 ectodermal dysplasia 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. http://purl.obolibrary.org/obo/DOID_0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. http://purl.obolibrary.org/obo/NCBITaxon_10519 Human adenovirus 7 http://purl.obolibrary.org/obo/NCBITaxon_108098 Human mastadenovirus B http://purl.obolibrary.org/obo/DOID_0111662 ectodermal dysplasia 14 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia http://purl.obolibrary.org/obo/DOID_9255 frontotemporal dementia A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. http://purl.obolibrary.org/obo/NCBITaxon_45659 Human adenovirus B3 http://purl.obolibrary.org/obo/NCBITaxon_108098 Human mastadenovirus B http://purl.obolibrary.org/obo/DOID_0111663 ectodermal dysplasia 10A http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_0111664 ectodermal dysplasia 1 http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_0081389 logopenic progressive aphasia http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. http://purl.obolibrary.org/obo/NCBITaxon_3428066 Coltivirus dermacentoris http://purl.obolibrary.org/obo/NCBITaxon_10911 Coltivirus http://purl.obolibrary.org/obo/DOID_0111665 ectodermal dysplasia 10B http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_0081390 progressive non-fluent aphasia http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/NCBITaxon_11018 Togaviridae http://purl.obolibrary.org/obo/DOID_0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_0081391 semantic dementia http://purl.obolibrary.org/obo/DOID_0081388 primary progressive aphasia A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. http://purl.obolibrary.org/obo/NCBITaxon_3426294 Alphavirus barmah http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/DOID_0111667 enterokinase deficiency http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. http://purl.obolibrary.org/obo/DOID_0081392 corticobasal degeneration syndrome http://purl.obolibrary.org/obo/DOID_9255 frontotemporal dementia A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. http://purl.obolibrary.org/obo/NCBITaxon_3426299 Alphavirus eastern http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/DOID_0111668 Kohlschutter-Tonz syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0081393 organophosphate-induced delayed polyneuropathy http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. http://purl.obolibrary.org/obo/NCBITaxon_3426314 Alphavirus rossriver http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/DOID_0111669 hyaline fibromatosis syndrome http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. http://purl.obolibrary.org/obo/DOID_0081394 Caroli syndrome http://purl.obolibrary.org/obo/DOID_866 vein disease A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. http://purl.obolibrary.org/obo/NCBITaxon_3426322 Alphavirus venezuelan http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/DOID_0080667 spinal muscular atrophy type 0 http://purl.obolibrary.org/obo/DOID_0060160 childhood spinal muscular atrophy A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. http://purl.obolibrary.org/obo/DOID_0081407 childhood round cell sarcoma with EWSR1-non-ETS fusion http://purl.obolibrary.org/obo/DOID_0081406 round cell sarcoma with EWSR1-non-ETS fusion A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. http://purl.obolibrary.org/obo/NCBITaxon_3426323 Alphavirus western http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/DOID_0111813 syndactyly type 8 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0081415 TFE3-rearranged renal cell carcinoma http://purl.obolibrary.org/obo/DOID_0081413 renal cell carcinoma with MiT translocations A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. http://purl.obolibrary.org/obo/NCBITaxon_3426312 Alphavirus onyong http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/DOID_0111814 methylmalonic acidemia and homocysteinemia cblX type http://purl.obolibrary.org/obo/DOID_14749 methylmalonic acidemia A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0081423 familial focal epilepsy with variable foci 3 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0070594 spermatogenic failure 95 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2. http://purl.obolibrary.org/obo/NCBITaxon_3426298 Alphavirus chikungunya http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/DOID_0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis http://purl.obolibrary.org/obo/DOID_0050699 Dent disease A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_0060995 autosomal dominant isolated macrothrombocytopenia 2 http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. http://purl.obolibrary.org/obo/NCBITaxon_2846071 Rubivirus rubellae http://purl.obolibrary.org/obo/NCBITaxon_11040 Rubivirus http://purl.obolibrary.org/obo/DOID_0111816 syndactyly type 1 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. http://purl.obolibrary.org/obo/DOID_0061005 congenital amegakaryocytic thrombocytopenia 1 http://purl.obolibrary.org/obo/DOID_0090118 congenital amegakaryocytic thrombocytopenia A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. http://purl.obolibrary.org/obo/NCBITaxon_11102 Orthohepacivirus http://purl.obolibrary.org/obo/NCBITaxon_11050 Flaviviridae http://purl.obolibrary.org/obo/DOID_0111817 syndactyly type 3 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. http://purl.obolibrary.org/obo/DOID_0061006 advanced sleep phase syndrome 4 http://purl.obolibrary.org/obo/DOID_0050628 advanced sleep phase syndrome An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0061007 sideroblastic anemia 5 http://purl.obolibrary.org/obo/DOID_8955 sideroblastic anemia A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12. http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_11050 Flaviviridae http://purl.obolibrary.org/obo/NCBITaxon_3052230 Orthohepacivirus hominis http://purl.obolibrary.org/obo/NCBITaxon_11102 Orthohepacivirus http://purl.obolibrary.org/obo/DOID_0111818 syndactyly type 4 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. http://purl.obolibrary.org/obo/DOID_0061008 craniosynostosis 6 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24. http://purl.obolibrary.org/obo/NCBITaxon_2501931 Orthocoronavirinae http://purl.obolibrary.org/obo/NCBITaxon_11118 Coronaviridae http://purl.obolibrary.org/obo/DOID_0111819 syndactyly type 5 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/DOID_0061009 craniosynostosis 2 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35. http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/NCBITaxon_1113537 Chlamydia/Chlamydophila group http://purl.obolibrary.org/obo/DOID_0111820 zygodactyly 1 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement. http://purl.obolibrary.org/obo/DOID_0061010 craniosynostosis 1 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. http://purl.obolibrary.org/obo/NCBITaxon_6685 Penaeidae http://purl.obolibrary.org/obo/NCBITaxon_111520 Penaeoidea http://purl.obolibrary.org/obo/DOID_0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/DOID_0061011 craniosynostosis 3 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21. http://purl.obolibrary.org/obo/NCBITaxon_13373 Burkholderia mallei http://purl.obolibrary.org/obo/NCBITaxon_111527 pseudomallei group http://purl.obolibrary.org/obo/DOID_0111822 CHILD syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0061012 craniosynostosis 4 http://purl.obolibrary.org/obo/DOID_2340 craniosynostosis A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13. http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/DOID_0111823 autosomal hemophilia A http://purl.obolibrary.org/obo/DOID_0061030 hemophilia A hemophilia characterized by autosomal inheritance of a Factor VIII deficiency. http://purl.obolibrary.org/obo/DOID_0061013 ovarian dysgenesis 9 http://purl.obolibrary.org/obo/DOID_14450 46 XX gonadal dysgenesis A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11. http://purl.obolibrary.org/obo/NCBITaxon_11244 Pneumoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/DOID_0111825 autosomal dominant Aarskog syndrome http://purl.obolibrary.org/obo/DOID_0111824 Aarskog syndrome An Aarskog syndrome characterized by autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0061014 ovarian dysgenesis 10 http://purl.obolibrary.org/obo/DOID_14450 46 XX gonadal dysgenesis A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. http://purl.obolibrary.org/obo/NCBITaxon_11266 Filoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/DOID_0111826 Abruzzo-Erickson syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_0070620 ring chromosome syndrome http://purl.obolibrary.org/obo/DOID_0080014 chromosomal disease A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable. http://purl.obolibrary.org/obo/NCBITaxon_11270 Rhabdoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/DOID_0111827 X-linked spinal muscular atrophy 2 http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_0070621 ring chromosome 14 syndrome http://purl.obolibrary.org/obo/DOID_0070620 ring chromosome syndrome A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure. http://purl.obolibrary.org/obo/NCBITaxon_178830 Bornaviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia http://purl.obolibrary.org/obo/DOID_0050953 X-linked hereditary ataxia A hereditary ataxia characterized by X-linked inheritance. http://purl.obolibrary.org/obo/DOID_0070622 ring chromosome 20 syndrome http://purl.obolibrary.org/obo/DOID_0070620 ring chromosome syndrome A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure. http://purl.obolibrary.org/obo/NCBITaxon_2560076 Orthoparamyxovirinae http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/DOID_0111829 X-linked spinocerebellar ataxia 1 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0111830 X-linked spinocerebellar ataxia 2 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. http://purl.obolibrary.org/obo/NCBITaxon_2560069 Avulavirinae http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/DOID_0070623 B-lymphoblastic leukemia with MEF2D rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement. http://purl.obolibrary.org/obo/DOID_0111831 X-linked spinocerebellar ataxia 3 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. http://purl.obolibrary.org/obo/NCBITaxon_2560080 Rubulavirinae http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/DOID_0070624 B-lymphoblastic leukemia with MYC rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement. http://purl.obolibrary.org/obo/DOID_0111832 X-linked spinocerebellar ataxia 4 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. http://purl.obolibrary.org/obo/NCBITaxon_3052345 Morbillivirus hominis http://purl.obolibrary.org/obo/NCBITaxon_11229 Morbillivirus http://purl.obolibrary.org/obo/DOID_0070625 B-lymphoblastic leukemia with NUTM1 rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement. http://purl.obolibrary.org/obo/DOID_0111833 X-linked spinocerebellar ataxia 5 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. http://purl.obolibrary.org/obo/NCBITaxon_1868215 Orthopneumovirus http://purl.obolibrary.org/obo/NCBITaxon_11244 Pneumoviridae http://purl.obolibrary.org/obo/DOID_0070626 B-lymphoblastic leukemia with PAX5alt http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions. http://purl.obolibrary.org/obo/DOID_0111834 X-linked reticulate pigmentary disorder http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. http://purl.obolibrary.org/obo/NCBITaxon_3044781 Orthoebolavirus http://purl.obolibrary.org/obo/NCBITaxon_11266 Filoviridae http://purl.obolibrary.org/obo/DOID_0070627 B-lymphoblastic leukemia with TCF3-HLF fusion http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement. http://purl.obolibrary.org/obo/DOID_0111835 congenital nongoitrous hypothyroidism 9 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. http://purl.obolibrary.org/obo/NCBITaxon_3044783 Orthomarburgvirus http://purl.obolibrary.org/obo/NCBITaxon_11266 Filoviridae http://purl.obolibrary.org/obo/DOID_0070628 B-lymphoblastic leukemia with ZNF384 rearrangement http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement. http://purl.obolibrary.org/obo/DOID_0111836 congenital nongoitrous hypothyroidism 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. http://purl.obolibrary.org/obo/NCBITaxon_2842407 Alpharhabdovirinae http://purl.obolibrary.org/obo/NCBITaxon_11270 Rhabdoviridae http://purl.obolibrary.org/obo/DOID_0070629 acute myeloid leukemia with CBFA2T3-GLIS2 fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene. http://purl.obolibrary.org/obo/DOID_0111837 congenital nongoitrous hypothyroidism 8 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. http://purl.obolibrary.org/obo/NCBITaxon_11292 Lyssavirus rabies http://purl.obolibrary.org/obo/NCBITaxon_11286 Lyssavirus http://purl.obolibrary.org/obo/DOID_0070630 acute myeloid leukemia with KAT6A-CREBBP fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion. http://purl.obolibrary.org/obo/DOID_0111838 Basilicata-Akhtar syndrome http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/NCBITaxon_34104 Streptobacillus http://purl.obolibrary.org/obo/NCBITaxon_1129771 Leptotrichiaceae http://purl.obolibrary.org/obo/DOID_0070631 acute myeloid leukemia with FUS-ERG fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with FUS-ERG gene fusion. http://purl.obolibrary.org/obo/DOID_0111839 congenital disorder of glycosylation Icc http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/NCBITaxon_35788 Rickettsia africae http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/DOID_0070632 acute myeloid leukemia with MNX1-ETV6 fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with MXN1-ETV6 gene fusion. http://purl.obolibrary.org/obo/DOID_0111840 Van Esch-O'Driscoll syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. http://purl.obolibrary.org/obo/NCBITaxon_35789 Rickettsia helvetica http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/DOID_0070633 acute myeloid leukemia with NPM1-MLF1 fusion http://purl.obolibrary.org/obo/DOID_9119 acute myeloid leukemia An acute myeloid leukemia associated with NPM1-MLF1 gene fusion. http://purl.obolibrary.org/obo/DOID_0111841 Shukla-Vernon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. http://purl.obolibrary.org/obo/NCBITaxon_35790 Rickettsia japonica http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/DOID_0061140 ragopathy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates. http://purl.obolibrary.org/obo/DOID_0111842 Keipert syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. http://purl.obolibrary.org/obo/NCBITaxon_35792 Rickettsia parkeri http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SYMP_0000539 jaundice http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by a yellowish pigmentation of the skin, tissues, and certain body fluids is caused by the deposition of bile pigments that follows interference with normal production and discharge of bile (as in certain liver diseases) or excessive breakdown of red blood cells (as after internal hemorrhage or in various hemolytic states). http://purl.obolibrary.org/obo/DOID_0111843 Paganini-Miozzo syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. http://purl.obolibrary.org/obo/NCBITaxon_37816 Rickettsia honei http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/ExO_0000014 climate change http://purl.obolibrary.org/obo/ExO_0000007 ecological perturbation An ecological pertubation that is any significant change in measures of climate (such as temperature, precipitation, or wind) lasting for an extended period (decades or longer). It may result from natural factors such as changes in the sun's intensity, natural processes within the climate system such as changes in ocean circulation, or human activities. http://purl.obolibrary.org/obo/DOID_0111844 X-linked intellectual developmental disorder 108 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/NCBITaxon_42862 Rickettsia felis http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SYMP_0000246 increased appetite http://purl.obolibrary.org/obo/SYMP_0000244 alteration of appetite An alteration of appetite that is characterized by an desire to eat, an excess desire for food. http://purl.obolibrary.org/obo/DOID_0111845 Mullegama-Klein-Martinez syndrome http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. http://purl.obolibrary.org/obo/NCBITaxon_781 Rickettsia conorii http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SYMP_0000600 apnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by transient cessation of respiration whether normal (as in hibernating animals) or abnormal (as that caused by certain drugs). http://purl.obolibrary.org/obo/DOID_0111846 X-linked congenital hemolytic anemia http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1. http://purl.obolibrary.org/obo/NCBITaxon_783 Rickettsia rickettsii http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SYMP_0000748 facial edema http://purl.obolibrary.org/obo/SYMP_0000538 edema An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the face. http://purl.obolibrary.org/obo/DOID_0111847 osteogenesis imperfecta type 19 http://purl.obolibrary.org/obo/DOID_12347 osteogenesis imperfecta An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. http://purl.obolibrary.org/obo/NCBITaxon_786 Rickettsia akari http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SYMP_0000421 hematochezia http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom hematochezia is a feces and droppings symptom characterized by the passage of fresh blood per anus, usually in or with stools. http://purl.obolibrary.org/obo/DOID_0111848 osteogenesis imperfecta type 18 http://purl.obolibrary.org/obo/DOID_12347 osteogenesis imperfecta An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. http://purl.obolibrary.org/obo/NCBITaxon_787 Rickettsia australis http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SYMP_0000844 face hyperemia http://purl.obolibrary.org/obo/SYMP_0000387 head symptom Hyperemia of the face is a head symptom consisting of an excess of blood in the tissues of the face as from an increased flow of blood due to vasodilation. http://purl.obolibrary.org/obo/DOID_0111849 osteogenesis imperfecta type 20 http://purl.obolibrary.org/obo/DOID_12347 osteogenesis imperfecta An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. http://purl.obolibrary.org/obo/NCBITaxon_266068 Rickettsia sibirica subgroup http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/NCIT_C14329 Microorganism http://purl.obolibrary.org/obo/DISDRIV_0000003 biological driver A biological agent that is a microorganism, including bacteria, viruses, or fungi. A microscopic organism. The term microorganism may refer to a prokaryote or eukaryote, and may be a unicellular or multicellular organism. All taxonomic kingdoms contain microorganisms. http://purl.obolibrary.org/obo/DOID_0111850 primary ciliary dyskinesia 36 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. http://purl.obolibrary.org/obo/DOID_0111851 primary ciliary dyskinesia 44 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. http://purl.obolibrary.org/obo/NCBITaxon_782 Rickettsia prowazekii http://purl.obolibrary.org/obo/NCBITaxon_114292 typhus group http://purl.obolibrary.org/obo/NCIT_C598 Iron http://purl.obolibrary.org/obo/CHEBI_33284 nutrient An important mineral the body needs to make hemoglobin, a substance in the blood that carries oxygen from the lungs to tissues throughout the body. Iron is also an important part of many other proteins and enzymes needed by the body for normal growth and development. It is found in red meat, fish, poultry, lentils, beans, and foods with iron added, such as cereal. http://purl.obolibrary.org/obo/DOID_0111852 primary ciliary dyskinesia 38 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. http://purl.obolibrary.org/obo/NCBITaxon_785 Rickettsia typhi http://purl.obolibrary.org/obo/NCBITaxon_114292 typhus group http://purl.obolibrary.org/obo/NCIT_C603 Isotretinoin http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A chemical driver that is accutane (retinoic acid), a medication primarily used to treat severe acne. http://purl.obolibrary.org/obo/DOID_0111853 primary ciliary dyskinesia 40 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. http://purl.obolibrary.org/obo/NCBITaxon_3052409 Orthobunyavirus lacrosseense http://purl.obolibrary.org/obo/NCBITaxon_11572 Orthobunyavirus http://purl.obolibrary.org/obo/NCIT_C943 Vitamin K http://purl.obolibrary.org/obo/CHEBI_33229 vitamin (role) The term "vitamin K" refers to a group of chemically similar fat-soluble compounds called naphthoquinones: vitamin K1 (phytonadione) is found in plants and is the primary source of vitamin K for humans through dietary consumption, vitamin K2 compounds (menaquinones) are made by bacteria in the human gut, and vitamin K3 (menadione) is a water-soluble preparation available for adults only. Vitamin K is necessary for the liver to produce the coagulation factors II, VII, IX, and X, as well as the clotting factors protein C, protein S, and protein Z; vitamin K deficiency can result in deficiencies of these coagulation factors and excess bleeding. An injection of vitamin K is routinely given to newborn infants to prevent vitamin K deficiency bleeding, also known as hemorrhagic disease of the newborn. Vitamin K deficiency is rare in adults but may result from chronic malnutrition or an inability to absorb dietary vitamins. http://purl.obolibrary.org/obo/NCBITaxon_3052429 Orthobunyavirus oropoucheense http://purl.obolibrary.org/obo/NCBITaxon_11572 Orthobunyavirus http://purl.obolibrary.org/obo/DOID_0111854 primary ciliary dyskinesia 39 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/NCBITaxon_3052676 Phlebovirus riftense http://purl.obolibrary.org/obo/NCBITaxon_11584 Phlebovirus http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/NCBITaxon_11617 Arenaviridae http://purl.obolibrary.org/obo/DOID_0080311 Billuart-type X-linked syndromic intellectual developmental disorder http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12. http://purl.obolibrary.org/obo/DOID_0111855 primary ciliary dyskinesia 42 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/DOID_0080312 neurodevelopmental disorder with midbrain and hindbrain malformations http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0111856 primary ciliary dyskinesia 43 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. http://purl.obolibrary.org/obo/NCBITaxon_3418650 Lentivirus humimdef1 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/DOID_0111857 primary ciliary dyskinesia 45 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. http://purl.obolibrary.org/obo/NCBITaxon_3418651 Lentivirus humimdef2 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/DOID_0080313 cleft palate-lateral synechia syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by fusion of maxilla and mandible. http://purl.obolibrary.org/obo/DOID_0111858 primary ciliary dyskinesia 41 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. http://purl.obolibrary.org/obo/NCBITaxon_116706 Heterotremata http://purl.obolibrary.org/obo/NCBITaxon_116704 Eubrachyura http://purl.obolibrary.org/obo/DOID_0080314 cone-rod dystrophy 14 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. http://purl.obolibrary.org/obo/DOID_0080709 NK cell deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that results from deficiency in the number or function of CD56+CD3− NK cell in peripheral blood. http://purl.obolibrary.org/obo/NCBITaxon_6774 Portunoidea http://purl.obolibrary.org/obo/NCBITaxon_116706 Heterotremata http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/DOID_0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0080711 multisystem inflammatory syndrome in children http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/DOID_0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. http://purl.obolibrary.org/obo/DOID_0080712 gene duplication disease http://purl.obolibrary.org/obo/DOID_0050177 monogenic disease A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/DOID_0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A http://purl.obolibrary.org/obo/DOID_0080315 megalencephalic leukoencephalopathy with subcortical cysts A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. http://purl.obolibrary.org/obo/DOID_0080714 hereditary alpha tryptasemia syndrome http://purl.obolibrary.org/obo/DOID_0080712 gene duplication disease A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems. http://purl.obolibrary.org/obo/NCBITaxon_2826938 Brucella/Ochrobactrum group http://purl.obolibrary.org/obo/NCBITaxon_118882 Brucellaceae http://purl.obolibrary.org/obo/NCBITaxon_776 Coxiella http://purl.obolibrary.org/obo/NCBITaxon_118968 Coxiellaceae http://purl.obolibrary.org/obo/DOID_0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). http://purl.obolibrary.org/obo/DOID_0080715 developmental and epileptic encephalopathy 82 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. http://purl.obolibrary.org/obo/NCBITaxon_118968 Coxiellaceae http://purl.obolibrary.org/obo/NCBITaxon_118969 Legionellales http://purl.obolibrary.org/obo/DOID_0080583 Wolfram syndrome, mitochondrial form http://purl.obolibrary.org/obo/DOID_10632 Wolfram syndrome A Wolfram syndrome that has_material_basis_in mutation in mtDNA. http://purl.obolibrary.org/obo/DOID_0080716 infantile liver failure syndrome http://purl.obolibrary.org/obo/DOID_409 liver disease A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. http://purl.obolibrary.org/obo/NCBITaxon_444 Legionellaceae http://purl.obolibrary.org/obo/NCBITaxon_118969 Legionellales http://purl.obolibrary.org/obo/DOID_0080584 autosomal dominant Wolfram syndrome http://purl.obolibrary.org/obo/DOID_10632 Wolfram syndrome A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_0080717 infantile liver failure syndrome 1 http://purl.obolibrary.org/obo/DOID_0080716 infantile liver failure syndrome An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32. http://purl.obolibrary.org/obo/NCBITaxon_32008 Burkholderia http://purl.obolibrary.org/obo/NCBITaxon_119060 Burkholderiaceae http://purl.obolibrary.org/obo/DOID_0080585 Van Maldergem syndrome 1 http://purl.obolibrary.org/obo/DOID_0060238 Van Maldergem syndrome A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0080718 GNE myopathy http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. http://purl.obolibrary.org/obo/NCBITaxon_1457286 Dorylaimia http://purl.obolibrary.org/obo/NCBITaxon_119088 Enoplea http://purl.obolibrary.org/obo/DOID_0080586 Van Maldergem syndrome 2 http://purl.obolibrary.org/obo/DOID_0060238 Van Maldergem syndrome A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. http://purl.obolibrary.org/obo/DOID_0080719 congenital myopathy 6 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0080720 autosomal dominant congenital deafness with onychodystrophy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. http://purl.obolibrary.org/obo/NCBITaxon_6236 Rhabditida http://purl.obolibrary.org/obo/NCBITaxon_119089 Chromadorea http://purl.obolibrary.org/obo/DOID_0080587 congenital myasthenic syndrome 22 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. http://purl.obolibrary.org/obo/DOID_0080721 calvarial doughnut lesions with bone fragility http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. http://purl.obolibrary.org/obo/DOID_0080722 Kenny-Caffey syndrome type 1 http://purl.obolibrary.org/obo/DOID_0080724 Kenny-Caffey syndrome A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_0111279 psoriasis 7 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R. http://purl.obolibrary.org/obo/NCBITaxon_36086 Trichuris http://purl.obolibrary.org/obo/NCBITaxon_119093 Trichuridae http://purl.obolibrary.org/obo/NCBITaxon_7162 Ochlerotatus triseriatus http://purl.obolibrary.org/obo/NCBITaxon_119225 Protomacleaya http://purl.obolibrary.org/obo/DOID_0080723 Kenny-Caffey syndrome type 2 http://purl.obolibrary.org/obo/DOID_0080724 Kenny-Caffey syndrome A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_0111280 psoriasis 4 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 1q21. http://purl.obolibrary.org/obo/NCBITaxon_90010 unclassified Enterovirus http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/DOID_0080724 Kenny-Caffey syndrome http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. http://purl.obolibrary.org/obo/DOID_0111281 psoriasis 15 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1. http://purl.obolibrary.org/obo/NCBITaxon_3428500 Enterovirus alphacoxsackie http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/DOID_0080725 BASAN syndrome http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. http://purl.obolibrary.org/obo/DOID_0080726 Ehlers-Danlos syndrome classic type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. http://purl.obolibrary.org/obo/DOID_0080727 Ehlers-Danlos syndrome arthrochalasia type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0080728 Ehlers-Danlos syndrome arthrochalasia type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0111282 psoriasis 5 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 3q21. http://purl.obolibrary.org/obo/NCBITaxon_3428502 Enterovirus betacoxsackie http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/NCBITaxon_3428505 Enterovirus coxsackiepol http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/DOID_0080729 brittle cornea syndrome 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. http://purl.obolibrary.org/obo/DOID_0111283 psoriasis 3 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 4q. http://purl.obolibrary.org/obo/DOID_0111284 psoriasis 9 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34. http://purl.obolibrary.org/obo/DOID_0111285 psoriasis 11 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B. http://purl.obolibrary.org/obo/NCBITaxon_3428506 Enterovirus deconjuncti http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/DOID_0080730 Ehlers-Danlos syndrome cardiac valvular type http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_0111286 psoriasis 1 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in the HLA-C gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/DOID_0080731 Ehlers-Danlos syndrome classic-like 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_0111287 psoriasis 13 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21. http://purl.obolibrary.org/obo/NCBITaxon_88770 Panarthropoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/DOID_0111288 psoriasis 8 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease. http://purl.obolibrary.org/obo/DOID_0080732 Ehlers-Danlos syndrome classic-like 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_6447 Mollusca http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/DOID_0080733 Ehlers-Danlos syndrome dermatosparaxis type http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0111289 psoriasis 10 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23. http://purl.obolibrary.org/obo/NCBITaxon_2750822 unclassified Mycobacterium avium complex (MAC) http://purl.obolibrary.org/obo/NCBITaxon_120793 Mycobacterium avium complex (MAC) http://purl.obolibrary.org/obo/DOID_0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0111290 psoriasis 6 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG. http://purl.obolibrary.org/obo/NCBITaxon_3429217 Hepatovirus fejalco http://purl.obolibrary.org/obo/NCBITaxon_12091 Hepatovirus http://purl.obolibrary.org/obo/NCBITaxon_121222 Pediculus http://purl.obolibrary.org/obo/NCBITaxon_121221 Pediculidae http://purl.obolibrary.org/obo/DOID_0111291 psoriasis 12 http://purl.obolibrary.org/obo/DOID_8893 psoriasis A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114. http://purl.obolibrary.org/obo/DOID_0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. http://purl.obolibrary.org/obo/DOID_0111293 generalized epilepsy with febrile seizures plus 4 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24. http://purl.obolibrary.org/obo/NCBITaxon_121225 Pediculus humanus http://purl.obolibrary.org/obo/NCBITaxon_121222 Pediculus http://purl.obolibrary.org/obo/NCBITaxon_121752 Lacazia loboi http://purl.obolibrary.org/obo/NCBITaxon_121739 Lacazia http://purl.obolibrary.org/obo/DOID_0080736 Ehlers-Danlos syndrome musculocontractural type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_0111294 generalized epilepsy with febrile seizures plus 2 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3. http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/DOID_0080737 Ehlers-Danlos syndrome musculocontractural type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_0111295 generalized epilepsy with febrile seizures plus 7 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. http://purl.obolibrary.org/obo/NCBITaxon_28211 Alphaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/DOID_0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0111296 generalized epilepsy with febrile seizures plus 10 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. http://purl.obolibrary.org/obo/NCBITaxon_28216 Betaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/DOID_0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance. http://purl.obolibrary.org/obo/NCBITaxon_123366 Eurypterygia http://purl.obolibrary.org/obo/NCBITaxon_123365 Neoteleostei http://purl.obolibrary.org/obo/DOID_0080740 Libman-Sacks endocarditis http://purl.obolibrary.org/obo/DOID_0060068 nonbacterial thrombotic endocarditis A nonbacterial thrombotic endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. http://purl.obolibrary.org/obo/DOID_0111298 familial febrile seizures 8 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. http://purl.obolibrary.org/obo/NCBITaxon_123367 Ctenosquamata http://purl.obolibrary.org/obo/NCBITaxon_123366 Eurypterygia http://purl.obolibrary.org/obo/DOID_0080741 limbic encephalitis http://purl.obolibrary.org/obo/DOID_9588 encephalitis An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. http://purl.obolibrary.org/obo/DOID_0111299 generalized epilepsy with febrile seizures plus 8 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31. http://purl.obolibrary.org/obo/NCBITaxon_123368 Acanthomorphata http://purl.obolibrary.org/obo/NCBITaxon_123367 Ctenosquamata http://purl.obolibrary.org/obo/DOID_0080742 autoimmune cholangitis http://purl.obolibrary.org/obo/DOID_2048 autoimmune hepatitis An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. http://purl.obolibrary.org/obo/DOID_0111300 generalized epilepsy with febrile seizures plus 6 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21. http://purl.obolibrary.org/obo/DOID_0111301 generalized epilepsy with febrile seizures plus 9 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. http://purl.obolibrary.org/obo/NCBITaxon_1489838 Paracanthopterygii http://purl.obolibrary.org/obo/NCBITaxon_123368 Acanthomorphata http://purl.obolibrary.org/obo/DOID_0080743 transverse myelitis http://purl.obolibrary.org/obo/DOID_322 myelitis A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. http://purl.obolibrary.org/obo/DOID_0111302 generalized epilepsy with febrile seizures plus 1 http://purl.obolibrary.org/obo/DOID_0060170 generalized epilepsy with febrile seizures plus A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11. http://purl.obolibrary.org/obo/NCBITaxon_118969 Legionellales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/DOID_0080744 antisynthetase syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. http://purl.obolibrary.org/obo/DOID_0111303 familial febrile seizures 9 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23. http://purl.obolibrary.org/obo/NCBITaxon_135625 Pasteurellales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/DOID_0080745 polymyositis http://purl.obolibrary.org/obo/DOID_633 myositis A myositis that is characterized by muscle weakness affecting both sides of your body. http://purl.obolibrary.org/obo/DOID_0080746 Sweet syndrome http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. http://purl.obolibrary.org/obo/DOID_0111304 familial febrile seizures 10 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33. http://purl.obolibrary.org/obo/NCBITaxon_72273 Thiotrichales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/DOID_0080747 chronic urticaria http://purl.obolibrary.org/obo/DOID_1555 urticaria An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. http://purl.obolibrary.org/obo/DOID_0111305 familial febrile seizures 4 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. http://purl.obolibrary.org/obo/NCBITaxon_91347 Enterobacterales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_135623 Vibrionales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/DOID_0080748 chronic inducible urticaria http://purl.obolibrary.org/obo/DOID_0080747 chronic urticaria A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. http://purl.obolibrary.org/obo/DOID_0111306 familial febrile seizures 5 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. http://purl.obolibrary.org/obo/DOID_0080749 chronic spontaneous urticaria http://purl.obolibrary.org/obo/DOID_0080747 chronic urticaria A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. http://purl.obolibrary.org/obo/NCBITaxon_186801 Clostridia http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/DOID_0111307 familial febrile seizures 1 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21. http://purl.obolibrary.org/obo/DOID_0080750 erythema nodosum http://purl.obolibrary.org/obo/DOID_1526 panniculitis A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. http://purl.obolibrary.org/obo/NCBITaxon_526524 Erysipelotrichia http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/DOID_0111308 familial febrile seizures 11 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2. http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans http://purl.obolibrary.org/obo/DOID_1697 ichthyosis An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. http://purl.obolibrary.org/obo/DOID_0111309 familial febrile seizures 6 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. http://purl.obolibrary.org/obo/DOID_0111310 familial febrile seizures 2 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3. http://purl.obolibrary.org/obo/NCBITaxon_91061 Bacilli http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/DOID_0080752 keratosis pilaris atrophicans faciei http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area. http://purl.obolibrary.org/obo/DOID_0111311 familial febrile seizures 7 http://purl.obolibrary.org/obo/DOID_0111297 familial febrile seizures A familial febrile seizures that has_material_basis_in heterozygous mutation. http://purl.obolibrary.org/obo/NCBITaxon_7205 Tabanidae http://purl.obolibrary.org/obo/NCBITaxon_1262365 Tabanoidea http://purl.obolibrary.org/obo/DOID_0080753 keratosis follicularis spinulosa decalvans http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. http://purl.obolibrary.org/obo/DOID_0111324 juvenile absence epilepsy 1 http://purl.obolibrary.org/obo/DOID_0060172 juvenile absence epilepsy A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2. http://purl.obolibrary.org/obo/NCBITaxon_1280 Staphylococcus aureus http://purl.obolibrary.org/obo/NCBITaxon_1279 Staphylococcus http://purl.obolibrary.org/obo/DOID_0080754 X-linked keratosis follicularis spinulosa decalvans http://purl.obolibrary.org/obo/DOID_0080753 keratosis follicularis spinulosa decalvans A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. http://purl.obolibrary.org/obo/DOID_0111325 juvenile myoclonic epilepsy 10 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1. http://purl.obolibrary.org/obo/NCBITaxon_5796 Coccidia http://purl.obolibrary.org/obo/NCBITaxon_1280412 Conoidasida http://purl.obolibrary.org/obo/DOID_0080755 autosomal dominant keratosis follicularis spinulosa decalvans http://purl.obolibrary.org/obo/DOID_0080753 keratosis follicularis spinulosa decalvans A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0111326 juvenile myoclonic epilepsy 3 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21. http://purl.obolibrary.org/obo/NCBITaxon_1647 Erysipelothrix http://purl.obolibrary.org/obo/NCBITaxon_128827 Erysipelotrichaceae http://purl.obolibrary.org/obo/DOID_0080756 atrophoderma vermiculata http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. http://purl.obolibrary.org/obo/NCBITaxon_7511 Pulicidae http://purl.obolibrary.org/obo/NCBITaxon_129369 Pulicoidea http://purl.obolibrary.org/obo/DOID_0111327 juvenile myoclonic epilepsy 4 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14. http://purl.obolibrary.org/obo/NCBITaxon_1301 Streptococcus http://purl.obolibrary.org/obo/NCBITaxon_1300 Streptococcaceae http://purl.obolibrary.org/obo/DOID_0080757 Fanconi renotubular syndrome 1 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_0080758 Fanconi renotubular syndrome 2 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_0111328 juvenile myoclonic epilepsy 9 http://purl.obolibrary.org/obo/DOID_4890 juvenile myoclonic epilepsy A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36. http://purl.obolibrary.org/obo/NCBITaxon_1314 Streptococcus pyogenes http://purl.obolibrary.org/obo/NCBITaxon_1301 Streptococcus http://purl.obolibrary.org/obo/DOID_0080759 Fanconi renotubular syndrome 3 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_0111329 pyridoxamine 5'-phosphate oxidase deficiency http://purl.obolibrary.org/obo/DOID_0050718 vitamin metabolic disorder A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. http://purl.obolibrary.org/obo/DOID_0080760 Fanconi renotubular syndrome 4 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0111330 combined saposin deficiency http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1. http://purl.obolibrary.org/obo/DOID_0080761 Fanconi renotubular syndrome 5 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. http://purl.obolibrary.org/obo/NCBITaxon_1313 Streptococcus pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_1301 Streptococcus http://purl.obolibrary.org/obo/DOID_0080588 agammaglobulinemia 5 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z http://purl.obolibrary.org/obo/DOID_0110274 autosomal recessive limb-girdle muscular dystrophy An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/DOID_0080763 diffuse gastric cancer http://purl.obolibrary.org/obo/DOID_10534 stomach cancer A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. http://purl.obolibrary.org/obo/DOID_0111332 Pitt-Hopkins-like syndrome 2 http://purl.obolibrary.org/obo/DOID_0050888 syndromic intellectual disability A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/NCBITaxon_131567 cellular organisms http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/NCBITaxon_131567 cellular organisms http://purl.obolibrary.org/obo/DOID_0080764 hereditary diffuse gastric cancer http://purl.obolibrary.org/obo/DOID_0080763 diffuse gastric cancer A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. http://purl.obolibrary.org/obo/DOID_0111333 congenital myopathy 10A http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. http://purl.obolibrary.org/obo/DOID_0111334 congenital leptin deficiency http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. http://purl.obolibrary.org/obo/NCBITaxon_44556 Phlebotomus http://purl.obolibrary.org/obo/NCBITaxon_13203 Phlebotomus http://purl.obolibrary.org/obo/DOID_0080765 autosomal recessive intellectual developmental disorder 72 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0111335 myopathy with extrapyramidal signs http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/DOID_0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0111336 craniofacial-deafness-hand syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. http://purl.obolibrary.org/obo/NCBITaxon_63673 Turbo cornutus http://purl.obolibrary.org/obo/NCBITaxon_133423 Batillus http://purl.obolibrary.org/obo/DOID_0111932 severe congenital encephalopathy due to MECP2 mutation http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/DOID_0111337 Jackson-Weiss syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. http://purl.obolibrary.org/obo/DOID_0111933 phosphoglycerate kinase 1 deficiency http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/NCBITaxon_29960 Penaeus indicus http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/DOID_0111338 isolated elevated serum creatine phosphokinase levels http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. http://purl.obolibrary.org/obo/DOID_0111934 immunodeficiency 38 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/NCBITaxon_6687 Penaeus monodon http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/DOID_0111339 Vohwinkel syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. http://purl.obolibrary.org/obo/DOID_0111935 immunodeficiency 16 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/NCBITaxon_6689 Penaeus vannamei http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/NCBITaxon_6690 Penaeus aztecus http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/NCBITaxon_147571 Piedraiaceae http://purl.obolibrary.org/obo/NCBITaxon_134362 Capnodiales http://purl.obolibrary.org/obo/DOID_0111340 dominant optic atrophy plus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_0111936 immunodeficiency 14 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/NCBITaxon_135625 Pasteurellales http://purl.obolibrary.org/obo/DOID_0111341 primary failure of tooth eruption http://purl.obolibrary.org/obo/DOID_1091 tooth disease A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. http://purl.obolibrary.org/obo/DOID_0111937 immunodeficiency 22 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. http://purl.obolibrary.org/obo/NCBITaxon_1643685 Borreliaceae http://purl.obolibrary.org/obo/NCBITaxon_136 Spirochaetales http://purl.obolibrary.org/obo/DOID_0111342 dermatopathia pigmentosa reticularis http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_0111938 immunodeficiency 24 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. http://purl.obolibrary.org/obo/NCBITaxon_2845253 Treponemataceae http://purl.obolibrary.org/obo/NCBITaxon_136 Spirochaetales http://purl.obolibrary.org/obo/DOID_0111343 lateral meningocele syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12. http://purl.obolibrary.org/obo/DOID_0111344 myeloproliferative disorder with eosinophilia http://purl.obolibrary.org/obo/DOID_2226 myeloproliferative neoplasm A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. http://purl.obolibrary.org/obo/DOID_0111939 immunodeficiency 37 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. http://purl.obolibrary.org/obo/NCBITaxon_186817 Bacillaceae http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/DOID_0111345 transient bullous dermolysis of the newborn http://purl.obolibrary.org/obo/DOID_4959 epidermolysis bullosa dystrophica An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. http://purl.obolibrary.org/obo/DOID_0111940 immunodeficiency 42 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/NCBITaxon_186820 Listeriaceae http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/DOID_0111346 epidermolysis bullosa simplex 2F with mottled pigmentation http://purl.obolibrary.org/obo/DOID_4644 epidermolysis bullosa simplex An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in the keratin-5 gene (KRT5) on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_0111941 immunodeficiency 20 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. http://purl.obolibrary.org/obo/NCBITaxon_90964 Staphylococcaceae http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/DOID_0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails http://purl.obolibrary.org/obo/DOID_0080224 autosomal dominant dystrophic epidermolysis bullosa An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. http://purl.obolibrary.org/obo/DOID_0111942 immunodeficiency 25 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. http://purl.obolibrary.org/obo/DOID_0111943 immunodeficiency 48 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/NCBITaxon_86661 Bacillus cereus group http://purl.obolibrary.org/obo/NCBITaxon_1386 Bacillus http://purl.obolibrary.org/obo/DOID_0111348 multiple epiphyseal dysplasia with myopia and deafness http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. http://purl.obolibrary.org/obo/DOID_0111944 immunodeficiency 31B http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/NCBITaxon_31704 Coxsackievirus A16 http://purl.obolibrary.org/obo/NCBITaxon_138948 Enterovirus A http://purl.obolibrary.org/obo/DOID_0111349 hereditary desmoid disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. http://purl.obolibrary.org/obo/DOID_0111945 immunodeficiency 31A http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/DOID_0111350 Laurin-Sandrow syndrome http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. http://purl.obolibrary.org/obo/NCBITaxon_39054 Enterovirus A71 http://purl.obolibrary.org/obo/NCBITaxon_138948 Enterovirus A http://purl.obolibrary.org/obo/DOID_0111946 immunodeficiency 31C http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/DOID_0111351 D-2-hydroxyglutaric aciduria 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. http://purl.obolibrary.org/obo/NCBITaxon_12080 Poliovirus 1 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/NCBITaxon_12083 Poliovirus 2 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/DOID_0111947 immunodeficiency 21 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. http://purl.obolibrary.org/obo/DOID_0111352 D-2-hydroxyglutaric aciduria 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. http://purl.obolibrary.org/obo/NCBITaxon_12086 Poliovirus 3 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/NCBITaxon_12089 Coxsackievirus A24 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/DOID_0111948 immunodeficiency 46 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. http://purl.obolibrary.org/obo/DOID_0111353 arthrogryposis, renal dysfunction, and cholestasis 1 http://purl.obolibrary.org/obo/DOID_0050763 ARC syndrome An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. http://purl.obolibrary.org/obo/NCBITaxon_12090 enterovirus D70 http://purl.obolibrary.org/obo/NCBITaxon_138951 Enterovirus D http://purl.obolibrary.org/obo/DOID_0111949 immunodeficiency 36 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. http://purl.obolibrary.org/obo/DOID_0111354 arthrogryposis, renal dysfunction, and cholestasis 2 http://purl.obolibrary.org/obo/DOID_0050763 ARC syndrome An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. http://purl.obolibrary.org/obo/NCBITaxon_129369 Pulicoidea http://purl.obolibrary.org/obo/NCBITaxon_140693 Pulicomorpha http://purl.obolibrary.org/obo/DOID_0111950 immunodeficiency 29 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. http://purl.obolibrary.org/obo/DOID_0111355 hydrolethalus syndrome 1 http://purl.obolibrary.org/obo/DOID_0050779 hydrolethalus syndrome A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. http://purl.obolibrary.org/obo/NCBITaxon_314145 Laurasiatheria http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/DOID_0111951 immunodeficiency 40 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. http://purl.obolibrary.org/obo/DOID_0111356 hydrolethalus syndrome 2 http://purl.obolibrary.org/obo/DOID_0050779 hydrolethalus syndrome A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/DOID_0111952 immunodeficiency 57 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. http://purl.obolibrary.org/obo/DOID_0080696 Winchester syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. http://purl.obolibrary.org/obo/DOID_0080697 Opitz GBBB syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. http://purl.obolibrary.org/obo/NCBITaxon_4447 Liliopsida http://purl.obolibrary.org/obo/NCBITaxon_1437183 Mesangiospermae http://purl.obolibrary.org/obo/NCBITaxon_71240 eudicotyledons http://purl.obolibrary.org/obo/NCBITaxon_1437183 Mesangiospermae http://purl.obolibrary.org/obo/DOID_0111953 immunodeficiency 23 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. http://purl.obolibrary.org/obo/DOID_0111954 immunodeficiency 60 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_0080698 Teebi hypertelorism syndrome 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. http://purl.obolibrary.org/obo/NCBITaxon_4734 commelinids http://purl.obolibrary.org/obo/NCBITaxon_1437197 Petrosaviidae http://purl.obolibrary.org/obo/DOID_0111955 immunodeficiency 27A http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. http://purl.obolibrary.org/obo/DOID_0080699 glutathione synthetase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by the lack of glutathione production. http://purl.obolibrary.org/obo/NCBITaxon_71274 asterids http://purl.obolibrary.org/obo/NCBITaxon_1437201 Pentapetalae http://purl.obolibrary.org/obo/DOID_0080700 caudal regression syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized by impairment of the development of the lower half of the body. http://purl.obolibrary.org/obo/DOID_0111956 immunodeficiency 27B http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. http://purl.obolibrary.org/obo/DOID_0080702 medulloblastoma WNT activated http://purl.obolibrary.org/obo/DOID_0050902 medulloblastoma A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. http://purl.obolibrary.org/obo/DOID_0080703 medulloblastoma SHH activated http://purl.obolibrary.org/obo/DOID_0050902 medulloblastoma A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. http://purl.obolibrary.org/obo/NCBITaxon_71275 rosids http://purl.obolibrary.org/obo/NCBITaxon_1437201 Pentapetalae http://purl.obolibrary.org/obo/DOID_0111957 immunodeficiency 11A http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. http://purl.obolibrary.org/obo/DOID_0080704 medulloblastoma SHH activated and TP53 mutant http://purl.obolibrary.org/obo/DOID_0080703 medulloblastoma SHH activated A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/NCBITaxon_1457286 Dorylaimia http://purl.obolibrary.org/obo/DOID_0111958 immunodeficiency 11B http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. http://purl.obolibrary.org/obo/DOID_0080705 medulloblastoma SHH activated and TP53 wild-type http://purl.obolibrary.org/obo/DOID_0080703 medulloblastoma SHH activated A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. http://purl.obolibrary.org/obo/NCBITaxon_1648037 Poodae http://purl.obolibrary.org/obo/NCBITaxon_147368 Pooideae http://purl.obolibrary.org/obo/NCBITaxon_1652081 Poeae Chloroplast Group 2 (Poeae type) http://purl.obolibrary.org/obo/NCBITaxon_147387 Poeae http://purl.obolibrary.org/obo/DOID_0111959 immunodeficiency 15B http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_0080706 medulloblastoma non-WNT/non-SHH http://purl.obolibrary.org/obo/DOID_0050902 medulloblastoma A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. http://purl.obolibrary.org/obo/NCBITaxon_3239874 Pichiomycetes http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/NCBITaxon_147538 Pezizomycotina http://purl.obolibrary.org/obo/DOID_0111960 immunodeficiency 15A http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_0080707 medulloblastoma non-WNT/non-SHH group 3 http://purl.obolibrary.org/obo/DOID_0080706 medulloblastoma non-WNT/non-SHH A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147541 Dothideomycetes http://purl.obolibrary.org/obo/NCBITaxon_451868 Pleosporomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147541 Dothideomycetes http://purl.obolibrary.org/obo/DOID_0111961 immunodeficiency 26 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. http://purl.obolibrary.org/obo/DOID_0080708 medulloblastoma non-WNT/non-SHH group 4 http://purl.obolibrary.org/obo/DOID_0080706 medulloblastoma non-WNT/non-SHH A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 gene mutations, while chromosome 17 abnormalities may be present. http://purl.obolibrary.org/obo/DOID_0111963 dendritic cell deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells. http://purl.obolibrary.org/obo/NCBITaxon_451870 Chaetothyriomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147545 Eurotiomycetes http://purl.obolibrary.org/obo/DOID_0111898 CK syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0111964 B cell and dendritic cell deficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. http://purl.obolibrary.org/obo/NCBITaxon_451871 Eurotiomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147545 Eurotiomycetes http://purl.obolibrary.org/obo/DOID_0111899 X-linked thrombophilia due to factor IX defect http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells. http://purl.obolibrary.org/obo/DOID_0111966 monocyte, dendritic cell, and NK cell deficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells. http://purl.obolibrary.org/obo/NCBITaxon_222543 Hypocreomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147550 Sordariomycetes http://purl.obolibrary.org/obo/DOID_0111900 autosomal dominant thrombophilia due to protein S deficiency http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. http://purl.obolibrary.org/obo/DOID_0111967 immunodeficiency 54 http://purl.obolibrary.org/obo/DOID_0080709 NK cell deficiency A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. http://purl.obolibrary.org/obo/NCBITaxon_222544 Sordariomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147550 Sordariomycetes http://purl.obolibrary.org/obo/DOID_0111901 heparin cofactor II deficiency http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_0111968 immunodeficiency 41 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. http://purl.obolibrary.org/obo/NCBITaxon_37987 Pneumocystales http://purl.obolibrary.org/obo/NCBITaxon_147553 Pneumocystomycetes http://purl.obolibrary.org/obo/DOID_0111902 thrombophilia due to activated protein C resistance http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. http://purl.obolibrary.org/obo/DOID_0111969 immunodeficiency 39 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/NCBITaxon_1513 Clostridium tetani http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/DOID_0111903 thrombophilia due to HRG deficiency http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. http://purl.obolibrary.org/obo/DOID_0111970 immunodeficiency 10 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. http://purl.obolibrary.org/obo/NCBITaxon_3691983 Clostridium botulinum group http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/DOID_0111904 autosomal recessive thrombophilia due to protein C deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. http://purl.obolibrary.org/obo/DOID_0111971 immunodeficiency 18 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/NCBITaxon_186625 Clupeocephala http://purl.obolibrary.org/obo/NCBITaxon_1489341 Osteoglossocephalai http://purl.obolibrary.org/obo/DOID_0111905 autosomal recessive thrombophilia due to protein S deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. http://purl.obolibrary.org/obo/DOID_0111972 immunodeficiency 19 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/NCBITaxon_123365 Neoteleostei http://purl.obolibrary.org/obo/NCBITaxon_1489388 Euteleosteomorpha http://purl.obolibrary.org/obo/DOID_0111906 thrombophilia due to decreased release of PLAT http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls. http://purl.obolibrary.org/obo/DOID_0111973 immunodeficiency 17 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/NCBITaxon_41705 Protacanthopterygii http://purl.obolibrary.org/obo/NCBITaxon_1489388 Euteleosteomorpha http://purl.obolibrary.org/obo/DOID_0111974 immunodeficiency 59 http://purl.obolibrary.org/obo/DOID_0111964 B cell and dendritic cell deficiency A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_0111907 thrombophilia due to thrombin defect http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. http://purl.obolibrary.org/obo/NCBITaxon_1489841 Zeiogadaria http://purl.obolibrary.org/obo/NCBITaxon_1489838 Paracanthopterygii http://purl.obolibrary.org/obo/DOID_0111975 immunodeficiency 44 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. http://purl.obolibrary.org/obo/DOID_0111908 thrombophilia due to thrombomodulin defect http://purl.obolibrary.org/obo/DOID_2452 thrombophilia A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. http://purl.obolibrary.org/obo/NCBITaxon_1489843 Gadariae http://purl.obolibrary.org/obo/NCBITaxon_1489841 Zeiogadaria http://purl.obolibrary.org/obo/DOID_0111976 immunodeficiency 9 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0111909 autosomal dominant thrombophilia due to protein C deficiency http://purl.obolibrary.org/obo/DOID_3756 protein C deficiency A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. http://purl.obolibrary.org/obo/NCBITaxon_8043 Gadiformes http://purl.obolibrary.org/obo/NCBITaxon_1489843 Gadariae http://purl.obolibrary.org/obo/DOID_0111977 immunodeficiency 7 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure http://purl.obolibrary.org/obo/DOID_12336 male infertility A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa. http://purl.obolibrary.org/obo/NCBITaxon_8045 Gadidae http://purl.obolibrary.org/obo/NCBITaxon_1489845 Gadoidei http://purl.obolibrary.org/obo/DOID_0111978 immunodeficiency 65 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_0111911 spermatogenic failure 34 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1. http://purl.obolibrary.org/obo/NCBITaxon_36826 Clostridium botulinum A http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/DOID_0111979 immunodeficiency 49 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. http://purl.obolibrary.org/obo/DOID_0111912 spermatogenic failure 41 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2. http://purl.obolibrary.org/obo/NCBITaxon_36827 Clostridium botulinum B http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/DOID_0111980 immunodeficiency 64 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_0111913 spermatogenic failure 30 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33. http://purl.obolibrary.org/obo/DOID_0111981 immunodeficiency 43 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. http://purl.obolibrary.org/obo/NCBITaxon_36830 Clostridium botulinum E http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/DOID_0111914 spermatogenic failure 35 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_0111982 immunodeficiency 56 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. http://purl.obolibrary.org/obo/NCBITaxon_36831 Clostridium botulinum F http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/DOID_0111915 spermatogenic failure 33 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0111983 immunodeficiency 52 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. http://purl.obolibrary.org/obo/NCBITaxon_333774 unclassified Papillomaviridae http://purl.obolibrary.org/obo/NCBITaxon_151340 Papillomaviridae http://purl.obolibrary.org/obo/DOID_0111916 spermatogenic failure 28 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2. http://purl.obolibrary.org/obo/DOID_0111984 immunodeficiency 58 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/NCBITaxon_2169595 Firstpapillomavirinae http://purl.obolibrary.org/obo/NCBITaxon_151340 Papillomaviridae http://purl.obolibrary.org/obo/DOID_0111917 spermatogenic failure 43 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. http://purl.obolibrary.org/obo/DOID_0111985 immunodeficiency 32B http://purl.obolibrary.org/obo/DOID_0111966 monocyte, dendritic cell, and NK cell deficiency A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/NCBITaxon_693762 Schizaeales http://purl.obolibrary.org/obo/NCBITaxon_1521262 Polypodiidae http://purl.obolibrary.org/obo/DOID_0111918 spermatogenic failure 40 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_0111986 immunodeficiency 32A http://purl.obolibrary.org/obo/DOID_0111963 dendritic cell deficiency A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/DOID_0111919 spermatogenic failure 38 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21. http://purl.obolibrary.org/obo/NCBITaxon_3428212 Deltaretrovirus priTlym1 http://purl.obolibrary.org/obo/NCBITaxon_153136 Deltaretrovirus http://purl.obolibrary.org/obo/DOID_0111987 immunodeficiency 13 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. http://purl.obolibrary.org/obo/DOID_0111920 spermatogenic failure 25 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12. http://purl.obolibrary.org/obo/NCBITaxon_8976 Galliformes http://purl.obolibrary.org/obo/NCBITaxon_1549675 Galloanserae http://purl.obolibrary.org/obo/NCBITaxon_1851469 Trichosporonales http://purl.obolibrary.org/obo/NCBITaxon_155616 Tremellomycetes http://purl.obolibrary.org/obo/DOID_0111988 immunodeficiency 12 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. http://purl.obolibrary.org/obo/DOID_0111921 spermatogenic failure 36 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2. http://purl.obolibrary.org/obo/NCBITaxon_5579 Aureobasidium http://purl.obolibrary.org/obo/NCBITaxon_1570301 Saccotheciaceae http://purl.obolibrary.org/obo/DOID_0111989 immunodeficiency 35 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/NCBITaxon_157541 Zygodontomys brevicauda http://purl.obolibrary.org/obo/NCBITaxon_157540 Zygodontomys http://purl.obolibrary.org/obo/DOID_0111922 spermatogenic failure 31 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. http://purl.obolibrary.org/obo/DOID_0111990 immunodeficiency 30 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/NCBITaxon_15957 Phleum pratense http://purl.obolibrary.org/obo/NCBITaxon_15956 Phleum http://purl.obolibrary.org/obo/DOID_0111991 immunodeficiency 62 http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_0111923 spermatogenic failure 42 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22. http://purl.obolibrary.org/obo/NCBITaxon_163159 Xenopsylla cheopis http://purl.obolibrary.org/obo/NCBITaxon_163158 Xenopsylla http://purl.obolibrary.org/obo/DOID_0111992 immunodeficiency 53 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/DOID_0111924 spermatogenic failure 26 http://purl.obolibrary.org/obo/DOID_0112311 male infertility due to acephalic spermatozoa A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/NCBITaxon_5820 Plasmodium http://purl.obolibrary.org/obo/NCBITaxon_1639119 Plasmodiidae http://purl.obolibrary.org/obo/DOID_0111993 immunodeficiency 55 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. http://purl.obolibrary.org/obo/DOID_0111925 spermatogenic failure 32 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/NCBITaxon_138 Borrelia http://purl.obolibrary.org/obo/NCBITaxon_1643685 Borreliaceae http://purl.obolibrary.org/obo/DOID_0111994 immunodeficiency 45 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. http://purl.obolibrary.org/obo/DOID_0111926 spermatogenic failure 39 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/DOID_0111927 spermatogenic failure 37 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2. http://purl.obolibrary.org/obo/NCBITaxon_64895 Borreliella http://purl.obolibrary.org/obo/NCBITaxon_1643685 Borreliaceae http://purl.obolibrary.org/obo/DOID_0111995 immunodeficiency 28 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. http://purl.obolibrary.org/obo/DOID_0111928 spermatogenic failure 27 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. http://purl.obolibrary.org/obo/DOID_0111996 immunodeficiency 51 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. http://purl.obolibrary.org/obo/NCBITaxon_170 Leptospiraceae http://purl.obolibrary.org/obo/NCBITaxon_1643688 Leptospirales http://purl.obolibrary.org/obo/DOID_0111929 spermatogenic failure 24 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13. http://purl.obolibrary.org/obo/DOID_0111997 immunodeficiency 63 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. http://purl.obolibrary.org/obo/NCBITaxon_1648 Erysipelothrix rhusiopathiae http://purl.obolibrary.org/obo/NCBITaxon_1647 Erysipelothrix http://purl.obolibrary.org/obo/DOID_0111930 spermatogenic failure 29 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12. http://purl.obolibrary.org/obo/DOID_0111998 immunodeficiency 66 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. http://purl.obolibrary.org/obo/NCBITaxon_147387 Poeae http://purl.obolibrary.org/obo/NCBITaxon_1648037 Poodae http://purl.obolibrary.org/obo/DOID_0081001 Cowden syndrome 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. http://purl.obolibrary.org/obo/DOID_0111999 immunodeficiency 61 http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/NCBITaxon_3052303 Mammarenavirus choriomeningitidis http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/DOID_0081004 high-grade B-cell lymphoma double-hit/triple-hit http://purl.obolibrary.org/obo/DOID_0081452 large B-cell lymphoma A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. http://purl.obolibrary.org/obo/DOID_0112000 immunodeficiency 34 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. http://purl.obolibrary.org/obo/NCBITaxon_3052310 Mammarenavirus lassaense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/DOID_0081360 spastic quadriplegic cerebral palsy 2 http://purl.obolibrary.org/obo/DOID_10970 spastic quadriplegic cerebral palsy A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. http://purl.obolibrary.org/obo/DOID_0112001 immunodeficiency 50 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. http://purl.obolibrary.org/obo/NCBITaxon_2169991 Mammarenavirus juninense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/DOID_0060920 otosclerosis 1 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. http://purl.obolibrary.org/obo/DOID_0112002 immunodeficiency 47 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/NCBITaxon_3052302 Mammarenavirus chapareense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/DOID_0060921 otosclerosis 2 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. http://purl.obolibrary.org/obo/DOID_0112003 immunodeficiency 33 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. http://purl.obolibrary.org/obo/NCBITaxon_3052307 Mammarenavirus guanaritoense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/DOID_0060922 otosclerosis 3 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. http://purl.obolibrary.org/obo/DOID_0112004 immunodeficiency 71 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. http://purl.obolibrary.org/obo/NCBITaxon_3052314 Mammarenavirus lujoense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/DOID_0060923 otosclerosis 4 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. http://purl.obolibrary.org/obo/DOID_0112005 immunodeficiency 70 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/NCBITaxon_3052317 Mammarenavirus machupoense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/DOID_0060924 otosclerosis 5 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. http://purl.obolibrary.org/obo/NCBITaxon_3052331 Mammarenavirus whitewaterense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/DOID_0112006 immunodeficiency 69 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. http://purl.obolibrary.org/obo/DOID_0060925 otosclerosis 7 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. http://purl.obolibrary.org/obo/NCBITaxon_169449 Coelopinae http://purl.obolibrary.org/obo/NCBITaxon_169440 Coelopidae http://purl.obolibrary.org/obo/DOID_0112007 growth hormone secreting pituitary adenoma 2 http://purl.obolibrary.org/obo/DOID_6255 growth hormone secreting pituitary adenoma A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. http://purl.obolibrary.org/obo/DOID_0060926 otosclerosis 8 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. http://purl.obolibrary.org/obo/NCBITaxon_169455 Coelopellini http://purl.obolibrary.org/obo/NCBITaxon_169449 Coelopinae http://purl.obolibrary.org/obo/DOID_0112008 pituitary adenoma 5 http://purl.obolibrary.org/obo/DOID_3829 pituitary adenoma A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/DOID_0060927 otosclerosis 10 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. http://purl.obolibrary.org/obo/NCBITaxon_169495 This http://purl.obolibrary.org/obo/NCBITaxon_169455 Coelopellini http://purl.obolibrary.org/obo/DOID_0112009 pituitary adenoma 1 http://purl.obolibrary.org/obo/DOID_3829 pituitary adenoma A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0060928 otosclerosis 11 http://purl.obolibrary.org/obo/DOID_12185 otosclerosis An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. http://purl.obolibrary.org/obo/NCBITaxon_721805 Amygdaleae http://purl.obolibrary.org/obo/NCBITaxon_171637 Amygdaloideae http://purl.obolibrary.org/obo/DOID_0112010 pituitary adenoma 3 http://purl.obolibrary.org/obo/DOID_3829 pituitary adenoma A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. http://purl.obolibrary.org/obo/DOID_0060929 non-syndromic X-linked intellectual developmental disorder 111 http://purl.obolibrary.org/obo/DOID_0050776 non-syndromic X-linked intellectual disability A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. http://purl.obolibrary.org/obo/NCBITaxon_721813 Maleae http://purl.obolibrary.org/obo/NCBITaxon_171637 Amygdaloideae http://purl.obolibrary.org/obo/DOID_0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques http://purl.obolibrary.org/obo/DOID_161 keratosis A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. http://purl.obolibrary.org/obo/DOID_0070509 Schinzel Giedion syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. http://purl.obolibrary.org/obo/NCBITaxon_2706 Citrus http://purl.obolibrary.org/obo/NCBITaxon_1728959 Aurantioideae http://purl.obolibrary.org/obo/DOID_0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques http://purl.obolibrary.org/obo/DOID_0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/DOID_0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. http://purl.obolibrary.org/obo/NCBITaxon_2037 Actinomycetales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/DOID_0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques http://purl.obolibrary.org/obo/DOID_0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3. http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/DOID_0080766 erythrokeratodermia variabilis et progressiva 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0070512 neurodevelopmental disorder with hypotonia and speech delay http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. http://purl.obolibrary.org/obo/NCBITaxon_85009 Propionibacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/DOID_0080767 autoimmune myocarditis http://purl.obolibrary.org/obo/DOID_0060051 autoimmune disease of cardiovascular system An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/DOID_0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0080768 pyridoxine-dependent epilepsy http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. http://purl.obolibrary.org/obo/DOID_0080769 early-onset vitamin B6-dependent epilepsy 1 http://purl.obolibrary.org/obo/DOID_0080768 pyridoxine-dependent epilepsy A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. http://purl.obolibrary.org/obo/NCBITaxon_1769 Mycobacterium leprae http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/DOID_0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. http://purl.obolibrary.org/obo/DOID_0070515 chromosome 16p11.2 deletion syndrome, 593-kb http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). http://purl.obolibrary.org/obo/DOID_0070516 Mitchell syndrome http://purl.obolibrary.org/obo/DOID_906 peroxisomal disease A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_0081395 Harel-Yoon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/NCBITaxon_120793 Mycobacterium avium complex (MAC) http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/DOID_0080770 autosomal dominant beta thalassemia http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. http://purl.obolibrary.org/obo/DOID_0081397 Vissers-Bodmer syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_0081398 holoprosencephaly 12 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. http://purl.obolibrary.org/obo/NCBITaxon_186458 Orthobornavirus http://purl.obolibrary.org/obo/NCBITaxon_178830 Bornaviridae http://purl.obolibrary.org/obo/DOID_0080771 beta-thalassemia major http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. http://purl.obolibrary.org/obo/DOID_0070522 peeling skin syndrome 3 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13. http://purl.obolibrary.org/obo/DOID_0060933 developmental delay, dysmorphic facies, and brain anomalies http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. http://purl.obolibrary.org/obo/NCBITaxon_1714619 Orthobornavirus bornaense http://purl.obolibrary.org/obo/NCBITaxon_186458 Orthobornavirus http://purl.obolibrary.org/obo/DOID_0080772 beta-thalassemia intermedia http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. http://purl.obolibrary.org/obo/DOID_0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/DOID_0080773 delta beta-thalassemia http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. http://purl.obolibrary.org/obo/NCBITaxon_1489388 Euteleosteomorpha http://purl.obolibrary.org/obo/NCBITaxon_186625 Clupeocephala http://purl.obolibrary.org/obo/DOID_0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. http://purl.obolibrary.org/obo/DOID_0060936 dystonia 28, childhood-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0080774 thalassemia minor http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia. http://purl.obolibrary.org/obo/NCBITaxon_186634 Otomorpha http://purl.obolibrary.org/obo/NCBITaxon_186625 Clupeocephala http://purl.obolibrary.org/obo/DOID_0060937 dystonia 30 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_0080775 complete androgen insensitivity syndrome http://purl.obolibrary.org/obo/DOID_4674 androgen insensitivity syndrome An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. http://purl.obolibrary.org/obo/NCBITaxon_186627 Cypriniphysae http://purl.obolibrary.org/obo/NCBITaxon_186626 Otophysi http://purl.obolibrary.org/obo/DOID_0060938 dystonia 31 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0080776 partial androgen insensitivity syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. http://purl.obolibrary.org/obo/DOID_0060939 dystonia 32 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. http://purl.obolibrary.org/obo/NCBITaxon_7952 Cypriniformes http://purl.obolibrary.org/obo/NCBITaxon_186627 Cypriniphysae http://purl.obolibrary.org/obo/NCBITaxon_32519 Ostariophysi http://purl.obolibrary.org/obo/NCBITaxon_186634 Otomorpha http://purl.obolibrary.org/obo/DOID_0080777 lung sarcomatoid carcinoma http://purl.obolibrary.org/obo/DOID_3905 lung carcinoma A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. http://purl.obolibrary.org/obo/DOID_0060940 dystonia 33 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. http://purl.obolibrary.org/obo/NCBITaxon_186802 Eubacteriales http://purl.obolibrary.org/obo/NCBITaxon_186801 Clostridia http://purl.obolibrary.org/obo/DOID_0080778 transient infantile liver failure http://purl.obolibrary.org/obo/DOID_409 liver disease A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0060944 episodic kinesigenic dyskinesia 3 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. http://purl.obolibrary.org/obo/NCBITaxon_31979 Clostridiaceae http://purl.obolibrary.org/obo/NCBITaxon_186802 Eubacteriales http://purl.obolibrary.org/obo/SYMP_0020013 abnormal weight loss http://purl.obolibrary.org/obo/SYMP_0000178 weight loss A weight loss that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying. http://purl.obolibrary.org/obo/DOID_0060955 dystonia 35, childhood-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. http://purl.obolibrary.org/obo/DOID_0060956 dystonia 37, early-onset with striatal lesions http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. http://purl.obolibrary.org/obo/NCBITaxon_1386 Bacillus http://purl.obolibrary.org/obo/NCBITaxon_186817 Bacillaceae http://purl.obolibrary.org/obo/SYMP_0020014 chronic weight loss http://purl.obolibrary.org/obo/SYMP_0000178 weight loss A weight loss that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both. http://purl.obolibrary.org/obo/DOID_0060957 myoclonic dystonia 34 http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. http://purl.obolibrary.org/obo/NCBITaxon_1637 Listeria http://purl.obolibrary.org/obo/NCBITaxon_186820 Listeriaceae http://purl.obolibrary.org/obo/SYMP_0020016 acute weight gain http://purl.obolibrary.org/obo/SYMP_0000403 weight gain A weight gain that is characterized by a severe and sudden onset. http://purl.obolibrary.org/obo/SYMP_0020017 chronic weight gain http://purl.obolibrary.org/obo/SYMP_0000403 weight gain A weight gain that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both. http://purl.obolibrary.org/obo/SYMP_0020018 overweight http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by being too heavy for one’s height. Excess body weight can come from fat, muscle, bone, and/or water retention. Being overweight does not always mean being obese. http://purl.obolibrary.org/obo/SYMP_0020019 postnasal drainage http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom A nose symptom that is characterized by an an excessive secretion of mucous down the back of the throat. http://purl.obolibrary.org/obo/DOID_0070568 spermatogenic failure 69 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_0060966 dystonia 22, juvenile-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. http://purl.obolibrary.org/obo/NCBITaxon_1300 Streptococcaceae http://purl.obolibrary.org/obo/NCBITaxon_186826 Lactobacillales http://purl.obolibrary.org/obo/DOID_0060992 bent bone dysplasia syndrome 1 http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. http://purl.obolibrary.org/obo/NCBITaxon_119225 Protomacleaya http://purl.obolibrary.org/obo/NCBITaxon_190765 Ochlerotatus http://purl.obolibrary.org/obo/DOID_0060967 dystonia 22, adult-onset http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. http://purl.obolibrary.org/obo/NCBITaxon_197 Campylobacter jejuni http://purl.obolibrary.org/obo/NCBITaxon_194 Campylobacter http://purl.obolibrary.org/obo/NCBITaxon_11908 Human T-cell leukemia virus type I http://purl.obolibrary.org/obo/NCBITaxon_194440 Primate T-lymphotropic virus 1 http://purl.obolibrary.org/obo/DOID_0070533 long QT syndrome 16 http://purl.obolibrary.org/obo/DOID_2843 long QT syndrome A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common. http://purl.obolibrary.org/obo/DOID_0061023 nonphotosensitive trichothiodystrophy 8 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. http://purl.obolibrary.org/obo/NCBITaxon_3701028 Altocrustacea http://purl.obolibrary.org/obo/NCBITaxon_197562 Pancrustacea http://purl.obolibrary.org/obo/DOID_0070534 arrhythmogenic left ventricular cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. http://purl.obolibrary.org/obo/DOID_0070635 cardiovascular-kidney-metabolic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity. http://purl.obolibrary.org/obo/NCBITaxon_197562 Pancrustacea http://purl.obolibrary.org/obo/NCBITaxon_197563 Mandibulata http://purl.obolibrary.org/obo/DOID_0070535 arrhythmogenic biventricular cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. http://purl.obolibrary.org/obo/SYMP_0000007 bleeding http://purl.obolibrary.org/obo/SYMP_0000567 general symptom A general symptom that is characterized as an act, instance, or result of being bled or the process by which something is bled: as a the escape of blood from vessels. http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinomycetota http://purl.obolibrary.org/obo/DOID_0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. http://purl.obolibrary.org/obo/SYMP_0000009 blister http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by a fluid-filled elevation of the epidermis. http://purl.obolibrary.org/obo/NCBITaxon_69034 Rotaliidae http://purl.obolibrary.org/obo/NCBITaxon_203397 Rotaliacea http://purl.obolibrary.org/obo/NCBITaxon_203491 Fusobacteriales http://purl.obolibrary.org/obo/NCBITaxon_203490 Fusobacteriia http://purl.obolibrary.org/obo/DOID_0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. http://purl.obolibrary.org/obo/SYMP_0000022 depression http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a chronic feeling of emptiness, sadness, or inability to feel pleasure that may appear to happen for no clear reason. Additionally one may experience feelings of hopelessness, pessimism, irritability, frustration, or restlessness, guilt, worthlessness and thoughts of death or suicide. http://purl.obolibrary.org/obo/NCBITaxon_1129771 Leptotrichiaceae http://purl.obolibrary.org/obo/NCBITaxon_203491 Fusobacteriales http://purl.obolibrary.org/obo/DOID_0070538 syndromic X-linked intellectual developmental disorder bain type http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. http://purl.obolibrary.org/obo/SYMP_0000025 dry cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a lack of accompanied phlegm production. http://purl.obolibrary.org/obo/NCBITaxon_203692 Spirochaetia http://purl.obolibrary.org/obo/NCBITaxon_203691 Spirochaetota http://purl.obolibrary.org/obo/DOID_0070539 Halperin-Birk syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. http://purl.obolibrary.org/obo/SYMP_0000040 hematuria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the presence of blood or blood cells in the urine. http://purl.obolibrary.org/obo/NCBITaxon_3118682 Leptospiria http://purl.obolibrary.org/obo/NCBITaxon_203691 Spirochaetota http://purl.obolibrary.org/obo/DOID_0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_0081431 microcephaly, short stature, and limb abnormalities http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. http://purl.obolibrary.org/obo/NCBITaxon_136 Spirochaetales http://purl.obolibrary.org/obo/NCBITaxon_203692 Spirochaetia http://purl.obolibrary.org/obo/SYMP_0000056 hyperpigmentation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an excess pigmentation in a bodily part or tissue, as the skin. http://purl.obolibrary.org/obo/SYMP_0000061 inflammation http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Inflammation is a general symptom where there is a local response to cellular injury that is marked by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling, and often loss of function and that serves as a mechanism initiating the elimination of noxious agents and of damaged tissue. http://purl.obolibrary.org/obo/SYMP_0000064 joint pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a pain situated, or occurring, in or around a joint. http://purl.obolibrary.org/obo/DOID_0081432 microcephaly-micromelia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. http://purl.obolibrary.org/obo/NCBITaxon_2049 Actinomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_2037 Actinomycetales http://purl.obolibrary.org/obo/SYMP_0000075 lethargy http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by abnormal drowsiness. http://purl.obolibrary.org/obo/NCBITaxon_204429 Chlamydiia http://purl.obolibrary.org/obo/NCBITaxon_204428 Chlamydiota http://purl.obolibrary.org/obo/DOID_0081433 peroxisome biogenesis disorder 4B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000892 sensation perception A sensation perception that is characterized by an unpleasant sensation that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual, confined to one area or spread over the entire body. http://purl.obolibrary.org/obo/NCBITaxon_51291 Chlamydiales http://purl.obolibrary.org/obo/NCBITaxon_204429 Chlamydiia http://purl.obolibrary.org/obo/NCBITaxon_1654 Actinomyces http://purl.obolibrary.org/obo/NCBITaxon_2049 Actinomycetaceae http://purl.obolibrary.org/obo/DOID_0081434 peroxisome biogenesis disorder 5B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_0081435 peroxisome biogenesis disorder 6B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36. http://purl.obolibrary.org/obo/SYMP_0000116 prostration http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Prostration is a general symptom characterized by complete physical or mental exhaustion. http://purl.obolibrary.org/obo/NCBITaxon_2529408 Schaalia http://purl.obolibrary.org/obo/NCBITaxon_2049 Actinomycetaceae http://purl.obolibrary.org/obo/DOID_0081436 peroxisome biogenesis disorder 7B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/SYMP_0000131 severe joint pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around a joint that is intense (severe). http://purl.obolibrary.org/obo/NCBITaxon_481 Neisseriaceae http://purl.obolibrary.org/obo/NCBITaxon_206351 Neisseriales http://purl.obolibrary.org/obo/DOID_0081437 peroxisome biogenesis disorder 8B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. http://purl.obolibrary.org/obo/SYMP_0000136 skin ulcer http://purl.obolibrary.org/obo/SYMP_0000092 skin lesion A skin lesion that is characterized by a break in skin with loss of surface tissue, disintegration and necrosis of epithelial tissue, and often pus. http://purl.obolibrary.org/obo/NCBITaxon_72294 Campylobacteraceae http://purl.obolibrary.org/obo/NCBITaxon_213849 Campylobacterales http://purl.obolibrary.org/obo/DOID_0081438 peroxisome biogenesis disorder 9B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23. http://purl.obolibrary.org/obo/SYMP_0000139 sneezing http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a sudden violent spasmodic audible expiration of breath through the nose and mouth especially as a reflex act following irritation of the nasal mucous membrane. http://purl.obolibrary.org/obo/NCBITaxon_63671 Turbinidae http://purl.obolibrary.org/obo/NCBITaxon_216285 Trochoidea http://purl.obolibrary.org/obo/DOID_0081439 peroxisome biogenesis disorder 11B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. http://purl.obolibrary.org/obo/SYMP_0000178 weight loss http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by a reduction of the total body mass, by a mean loss of fluid, body fat (adipose tissue), or lean mass (namely bone mineral deposits, muscle, tendon, and other connective tissue). Weight loss can either occur unintentionally because of malnourishment or an underlying disease. http://purl.obolibrary.org/obo/NCBITaxon_5592 Microascales http://purl.obolibrary.org/obo/NCBITaxon_222543 Hypocreomycetidae http://purl.obolibrary.org/obo/DOID_0081440 peroxisome biogenesis disorder 10B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24. http://purl.obolibrary.org/obo/SYMP_0000185 weariness http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by a feeling of exhaustion in strength, endurance, and vigor. http://purl.obolibrary.org/obo/NCBITaxon_5151 Ophiostomatales http://purl.obolibrary.org/obo/NCBITaxon_222544 Sordariomycetidae http://purl.obolibrary.org/obo/DOID_0081441 Nicolaides-Baraitser syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. http://purl.obolibrary.org/obo/SYMP_0000186 exhaustion http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by a feeling of weariness (bodily or mental) or feeling of weakness. Exhaustion is a shorter-lived form of fatigue that can be experienced emotionally, mentally, and physically. http://purl.obolibrary.org/obo/DOID_0081442 blepharophimosis-impaired intellectual development syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/NCBITaxon_234 Brucella http://purl.obolibrary.org/obo/NCBITaxon_1728959 Aurantioideae http://purl.obolibrary.org/obo/NCBITaxon_23513 Rutaceae http://purl.obolibrary.org/obo/SYMP_0000187 tiredness http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by a feeling of a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a sense of weariness and fatigue. http://purl.obolibrary.org/obo/DOID_0081443 Stolerman neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. http://purl.obolibrary.org/obo/NCBITaxon_1521262 Polypodiidae http://purl.obolibrary.org/obo/NCBITaxon_241806 Polypodiopsida http://purl.obolibrary.org/obo/SYMP_0000197 abortion http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by the expulsion of a fetus at any time before completion of pregnancy and is often due to infection. http://purl.obolibrary.org/obo/DOID_0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. http://purl.obolibrary.org/obo/NCBITaxon_35793 Rickettsia sibirica http://purl.obolibrary.org/obo/NCBITaxon_266068 Rickettsia sibirica subgroup http://purl.obolibrary.org/obo/SYMP_0000198 miscarriage http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by the spontaneous expulsion of a human fetus before it is viable and especially between the 12th and 28th weeks of gestation. http://purl.obolibrary.org/obo/DOID_0070546 primary pigmented nodular adrenocortical disease 1 http://purl.obolibrary.org/obo/DOID_0060280 primary pigmented nodular adrenocortical disease A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2. http://purl.obolibrary.org/obo/NCBITaxon_2711 Citrus sinensis http://purl.obolibrary.org/obo/NCBITaxon_2706 Citrus http://purl.obolibrary.org/obo/SYMP_0000199 spontaneous abortion http://purl.obolibrary.org/obo/SYMP_0000197 abortion An abortion that is characterized by the natural occurring expulsion of a nonviable fetus. http://purl.obolibrary.org/obo/DOID_0070552 epidermolytic palmoplantar keratoderma 1 http://purl.obolibrary.org/obo/DOID_0080223 epidermolytic palmoplantar keratoderma An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/SYMP_0000207 afebrile http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by the state of being free from fever. http://purl.obolibrary.org/obo/DOID_0070587 spermatogenic failure 88 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/SYMP_0000235 colic http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by the condition marked by recurrent episodes of prolonged and uncontrollable crying and irritability in an otherwise healthy infant that is of unknown cause and usually subsides after three to four months of age. http://purl.obolibrary.org/obo/DOID_0070618 rhabdoid tumor predisposition syndrome 1 http://purl.obolibrary.org/obo/DOID_0070617 rhabdoid tumor predisposition syndrome A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11. http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/SYMP_0000237 congestion http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an excessive accumulation especially of blood or mucus. http://purl.obolibrary.org/obo/DOID_0061001 glycine encephalopathy 2 http://purl.obolibrary.org/obo/DOID_9268 glycine encephalopathy A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/NCBITaxon_9903 Bos http://purl.obolibrary.org/obo/NCBITaxon_27592 Bovinae http://purl.obolibrary.org/obo/SYMP_0000243 cyclic fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by occurring during periodic episodes. http://purl.obolibrary.org/obo/DOID_0051001 congenital dyserythropoietic anemia type IIIb http://purl.obolibrary.org/obo/DOID_1338 congenital dyserythropoietic anemia A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/NCBITaxon_299467 Leptotrombidium deliense http://purl.obolibrary.org/obo/NCBITaxon_279271 Leptotrombidium http://purl.obolibrary.org/obo/NCBITaxon_356 Hyphomicrobiales http://purl.obolibrary.org/obo/NCBITaxon_28211 Alphaproteobacteria http://purl.obolibrary.org/obo/SYMP_0000263 epididymitis http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by an inflammation of the epididymis. http://purl.obolibrary.org/obo/DOID_0051083 developmental and epileptic encephalopathy 111 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in homozygous mutation in the DEPDC5 gene on chromosome 22q12. http://purl.obolibrary.org/obo/NCBITaxon_766 Rickettsiales http://purl.obolibrary.org/obo/NCBITaxon_28211 Alphaproteobacteria http://purl.obolibrary.org/obo/SYMP_0000264 epididymorchitis http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by inflammation of the epididymis and/or testicle (testis). http://purl.obolibrary.org/obo/SYMP_0000279 extreme exhaustion http://purl.obolibrary.org/obo/SYMP_0000186 exhaustion An exhaustion that is characterized by exceeding the ordinary, usual, or expected. http://purl.obolibrary.org/obo/DOID_0051084 developmental and epileptic encephalopathy 112 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23. http://purl.obolibrary.org/obo/NCBITaxon_206351 Neisseriales http://purl.obolibrary.org/obo/NCBITaxon_28216 Betaproteobacteria http://purl.obolibrary.org/obo/SYMP_0000280 extreme fatigue http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by exceeding the ordinary, usual, or expected. http://purl.obolibrary.org/obo/DOID_0051085 developmental and epileptic encephalopathy 113 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam and that has_material_basis_in homozygous mutation in the SV2A gene on chromosome 1q21. http://purl.obolibrary.org/obo/NCBITaxon_80840 Burkholderiales http://purl.obolibrary.org/obo/NCBITaxon_28216 Betaproteobacteria http://purl.obolibrary.org/obo/SYMP_0000324 bronchitis http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an acute or chronic inflammation of the bronchial tubes. http://purl.obolibrary.org/obo/DOID_0051086 developmental and epileptic encephalopathy 114 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11. http://purl.obolibrary.org/obo/NCBITaxon_5598 Alternaria http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/SYMP_0000358 premature labor http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by labor occurring before 37 full weeks of pregnancy. http://purl.obolibrary.org/obo/DOID_0051087 developmental and epileptic encephalopathy 115 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_material_basis_in homozygous or compound heterozygous mutation in the SNF8 gene on chromosome 17q21. http://purl.obolibrary.org/obo/NCBITaxon_91493 Exserohilum http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/SYMP_0000372 rhinorrhea http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom A nose symptom that is characterized by an excessive secretion of mucous through the nose. http://purl.obolibrary.org/obo/DOID_0051088 developmental and epileptic encephalopathy 119 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by global developmental delay, impaired intellectual development, microcephaly, autistic behavior, and seizures and that has_material_basis_in heterozygous mutation in the RNU2-2 gene on chromosome 11q12. http://purl.obolibrary.org/obo/NCBITaxon_5502 Curvularia http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/SYMP_0000398 vaginal discharge http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by fluid made by glands inside the vagina and cervix carrying away dead cells and bacteria. While it is normal for odor and color to vary, vaginal itching or burning may be indicative of an infection. http://purl.obolibrary.org/obo/DOID_0051089 developmental and epileptic encephalopathy 120 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by severe infantile epilepsy, developmental delay, and intellectual disability and that has_material_basis_in heterozygous mutation in the BAIAP2 gene on chromosome 17q25. http://purl.obolibrary.org/obo/NCBITaxon_5094 Talaromyces http://purl.obolibrary.org/obo/NCBITaxon_28568 Trichocomaceae http://purl.obolibrary.org/obo/SYMP_0000403 weight gain http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by an increase in body weight. This can involve an increase in muscle mass, fat deposits, excess fluids such as water or other factors. http://purl.obolibrary.org/obo/DOID_0051090 developmental and epileptic encephalopathy 121 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by neonatal- or infantile-onset epilepsy, global developmental delay or intellectual disability, and death in infancy, childhood, or early adulthood and that has_material_basis_in homozygous mutation in the LGI1 gene on chromosome 10q23. http://purl.obolibrary.org/obo/NCBITaxon_56210 Calomys callosus http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/SYMP_0000405 vaginismus http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by a painful spasmodic contraction of the vagina. http://purl.obolibrary.org/obo/DOID_0051091 developmental and epileptic encephalopathy 122 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that has_material_basis_in homozygous mutation in the MDGA2 gene on chromosome 14q21. http://purl.obolibrary.org/obo/NCBITaxon_56211 Calomys laucha http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/SYMP_0000406 bruise http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an injury transmitted through unbroken skin to underlying tissue causing rupture of small blood vessels and escape of blood into the tissue with resulting discoloration. http://purl.obolibrary.org/obo/DOID_0070704 dentin dysplasia type IA http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A dentin dysplasia characterized by oligodontia, microdontia with very globular and malformed teeth and incisal notches, taurodontism of the molar teeth, and short roots that has_material_basis_in homozygous mutation in the SMOC2 gene on chromosome 6q27. http://purl.obolibrary.org/obo/NCBITaxon_56212 Calomys musculinus http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/SYMP_0000407 syncope http://purl.obolibrary.org/obo/SYMP_0000482 alteration of consciousness An alteration of consciousness that is characterized by a loss of consciousness resulting from insufficient blood flow to the brain. http://purl.obolibrary.org/obo/DOID_0070705 dentin dysplasia type IB http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dentin dysplasia characterized by teeth with crowns that have normal morphology and roots that are short, blunt, and malformed, resulting in tooth hypermobility and subsequent exfoliation of permanent dentition starting in the second decade that has_material_basis_in heterozygous mutation in the VPS4B gene on chromosome 18q21. http://purl.obolibrary.org/obo/NCBITaxon_137207 Oligoryzomys longicaudatus http://purl.obolibrary.org/obo/NCBITaxon_29120 Oligoryzomys http://purl.obolibrary.org/obo/SYMP_0000409 hyperthermia http://purl.obolibrary.org/obo/SYMP_0000882 high fever A high fever that is characterized by an exceptionally high fever especially when induced artificially for therapeutic purposes. http://purl.obolibrary.org/obo/DOID_0070706 dentin dysplasia type IC http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dentin dysplasia characterized by tooth crowns that are normal in morphology, form, and color and roots that are short, blunt, and malformed, resulting in severe tooth hypermobility starting in late childhood followed by spontaneous tooth loss around 20 years of age, that has_material_basis_in heterozygous mutation in the SSUH2 gene on chromosome 3p25. http://purl.obolibrary.org/obo/NCBITaxon_37020 Oryzomys palustris http://purl.obolibrary.org/obo/NCBITaxon_29122 Oryzomys http://purl.obolibrary.org/obo/SYMP_0000412 anxiety http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill. http://purl.obolibrary.org/obo/DOID_0070707 dentin dysplasia type II http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A dentin dysplasia characterized by primary teeth with discoloration and obliteration of the pulp chamber, and secondary teeth with normal coloration, pulps shaped like thistles or tubes, and ovoid pulp stones that has_material_basis_in heterozygous mutation in the DSPP gene on chromosome 4q22. http://purl.obolibrary.org/obo/NCBITaxon_29185 Rotaliida http://purl.obolibrary.org/obo/NCBITaxon_29178 Foraminifera http://purl.obolibrary.org/obo/SYMP_0000422 dyspepsia http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom Dyspepsia is a digestive system symptom referred to as indigestion resulting from an impairment to digestion caused by ulcer, gall bladder disease or inflamed colon. Related symptoms include weakness, loss of appetite, and depression. http://purl.obolibrary.org/obo/DOID_0070708 dentin dysplasia with sclerotic bones http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by osteosclerosis of all long bones with heavy cortical bone and narrowed or occluded marrow spaces, and apparently pulpless teeth with radiolucent chevrons; short, blunted roots; and radiolucent apical area that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/NCBITaxon_203397 Rotaliacea http://purl.obolibrary.org/obo/NCBITaxon_29185 Rotaliida http://purl.obolibrary.org/obo/SYMP_0000434 urticaria http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by raised red skin wheals (welts) commonly caused by an allergic reaction with wheals that may vary in size from about 5 mm (0.2 inches) in diameter to the size of a dinner plate that are described as severely itchy a stingnig or burning sensation, and having a pale border. http://purl.obolibrary.org/obo/DOID_0070709 Popov-Chang syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development with poor or absent speech that has_material_basis_in heterozygous mutation in the YWHAZ gene on chromosome 8q22. http://purl.obolibrary.org/obo/NCBITaxon_3031852 Epsilonproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_29547 Campylobacterota http://purl.obolibrary.org/obo/SYMP_0000436 abnormal vaginal bleeding http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by bleeding from the uterus that is longer than usual or that occurs at an irregular time. Bleeding may be heavier or lighter than usual and occur often or randomly. http://purl.obolibrary.org/obo/DOID_0070710 neurodevelopmental disorder with speech delay and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed motor, speech, and/or cognitive development beginning in infancy or early childhood and behavioral abnormalities that has_material_basis_in heterozygous mutation in the UBR5 gene on chromosome 8q22. http://purl.obolibrary.org/obo/NCBITaxon_6936 Argasidae http://purl.obolibrary.org/obo/NCBITaxon_297308 Ixodoidea http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/NCBITaxon_297308 Ixodoidea http://purl.obolibrary.org/obo/SYMP_0000440 hair loss http://purl.obolibrary.org/obo/SYMP_0020040 hair symptom A hair symptom that is characterized by the stopping of hair growth (regeneration), which may be a result of hereditary hair loss, immune system overreacts, drugs and treatments, harsh hair-care products, and other factors. http://purl.obolibrary.org/obo/DOID_0070711 Harel-Tora neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking, variably impaired intellectual development with speech delay, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the ATXN7L3 gene on chromosome 17q21. http://purl.obolibrary.org/obo/NCBITaxon_29908 Sporothrix schenckii http://purl.obolibrary.org/obo/NCBITaxon_29907 Sporothrix http://purl.obolibrary.org/obo/SYMP_0000441 elbow pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the elbow. http://purl.obolibrary.org/obo/DOID_0070712 developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by congenital anomalies that mainly affect the cardiac and/or renal systems, dysmorphic craniofacial features apparent from birth, and mild to moderate neurodevelopmental delay, usually with hypotonia, delayed walking, impaired intellectual development, and poor speech acquisition, that has_material_basis_in homozygous mutation in the PAN2 gene on chromosome 12q13. http://purl.obolibrary.org/obo/NCBITaxon_38946 Paracoccidioides http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/SYMP_0000442 knee pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the knee. http://purl.obolibrary.org/obo/DOID_0070713 neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development, febrile seizures or epilepsy, facial dysmorphism, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KLHL20 gene on chromosome 1q25. http://purl.obolibrary.org/obo/NCBITaxon_1955773 Emergomyces http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/SYMP_0000443 shoulder pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the shoulder. http://purl.obolibrary.org/obo/DOID_0070714 neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality characterized by ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size, and abnormal craniofacial and skeletal defects including bilateral clubfeet that has_material_basis_in homozygous mutation in the SNAPIN gene on chromosome 1q21. http://purl.obolibrary.org/obo/NCBITaxon_229219 Blastomyces http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/SYMP_0000448 epistaxis http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom A nose symptom that involves a is loss of blood from the tissue lining the nose. http://purl.obolibrary.org/obo/DOID_0070715 Ramond-Elliott neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking or inability to walk, impaired intellectual development that is usually severe, and poor or absent speech that has_material_basis_in heterozygous mutation in the TRA2B gene on chromosome 3q27. http://purl.obolibrary.org/obo/NCBITaxon_121221 Pediculidae http://purl.obolibrary.org/obo/NCBITaxon_30005 Anoplura http://purl.obolibrary.org/obo/SYMP_0000455 abnormal weight gain http://purl.obolibrary.org/obo/SYMP_0000403 weight gain A weight gain that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying. http://purl.obolibrary.org/obo/DOID_0070716 progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality A congenital nervous system abnormality characterized by severe to profound global developmental delay with inability to sit or walk independently, almost no cognitive development, poor visual fixation, and absent speech; progressive, severe microcephaly; and notable structural brain abnormalities apparent on brain imaging, including simplified gyral pattern, lissencephaly, partial or complete agenesis of the corpus callosum, enlarged ventricles, and cerebellar hypoplasia, that has_material_basis_in heterozygous mutation in the CRNKL1 gene on chromosome 20p11. http://purl.obolibrary.org/obo/NCBITaxon_7953 Cyprinidae http://purl.obolibrary.org/obo/NCBITaxon_30727 Cyprinoidei http://purl.obolibrary.org/obo/DOID_0070717 developmental delay with sleep apnea http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, central and/or obstructive sleep apnea, and feeding difficulties that has_material_basis_in heterozygous mutation in the KCNK3 gene on chromosome 2p23. http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by occurring in the abdomen, i.e. between the chest and groin. http://purl.obolibrary.org/obo/NCBITaxon_2743709 Danionidae http://purl.obolibrary.org/obo/NCBITaxon_30727 Cyprinoidei http://purl.obolibrary.org/obo/DOID_0070718 neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia characterized by mild global developmental delay apparent from infancy, with mildly delayed walking and speech acquisition, mildly impaired intellectual development, behavioral abnormalities, and age-dependent, slowly progressive spastic paraplegia late in the first decade, resulting in gait abnormalities but not loss of ambulation, that has_material_basis_in homozygous mutation in the TBCB gene on chromosome 19q13. http://purl.obolibrary.org/obo/SYMP_0000458 nausea http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom Nausea is a digestive system symptom characterized by an uneasy or unsettled feeling in the stomach together with an urge to vomit. http://purl.obolibrary.org/obo/NCBITaxon_3051624 Amdoparvovirus carnivoran1 http://purl.obolibrary.org/obo/NCBITaxon_310911 Amdoparvovirus http://purl.obolibrary.org/obo/DOID_0070719 neurocardiorenal malformation syndrome http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder characterized by severe developmental delay associated with microcephaly, distinctive facial features, and multiorgan involvement including cardiac and renal malformations that has_material_basis_in homozygous or compound heterozygous mutation in the TM2D3 gene on chromosome 15q26. http://purl.obolibrary.org/obo/SYMP_0000475 underweight http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by weighing less than the normal amount for one's age, height, and build. http://purl.obolibrary.org/obo/DOID_0070720 immune dysregulation, neurodevelopmental defects, and colitis http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder characterized by eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental issues that has_material_basis_in homozygous or compound heterozygous mutation in the ITGAV gene on chromosome 2q32. http://purl.obolibrary.org/obo/NCBITaxon_91561 Artiodactyla http://purl.obolibrary.org/obo/NCBITaxon_314145 Laurasiatheria http://purl.obolibrary.org/obo/SYMP_0000485 dysuria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the difficult, or painful, discharge of urine. http://purl.obolibrary.org/obo/DOID_0070721 Valence-Farazi cerebellar ataxia syndrome http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by hypotonia, delayed motor development with mildly delayed walking, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging that has_material_basis_in homozygous mutation in the SKOR2 gene on chromosome 18q21. http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/SYMP_0000487 rash http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an eruption on the body typically with little or no elevation above the surface. http://purl.obolibrary.org/obo/DOID_0070722 adult-onset leukoencephalopathy without lacunae http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by a diffuse vascular leukoencephalopathy without lacunar infarct and a hippocampal type of memory defect with onset in the sixth to seventh decade that has_material_basis_in heterozygous mutation in the LAMB1 gene on chromosome 7q31. http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/DOID_0070723 dyschromatosis, ichthyosis, deafness, and atopic disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by generalized hyperpigmentation with hypopigmented spots, ichthyosis, sensorineural hearing loss, atopic dermatitis, asthma, and allergic rhinitis that has_material_basis_in compound heterozygous mutation in the OSBPL2 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0070724 dental radicular dysplasia http://purl.obolibrary.org/obo/DOID_403 mouth disease A mouth disease characterized by taurodontism, unseparated roots, long roots, tooth agenesis, torus palatinus, and torus mandibularis that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11. http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom A skin and integumentary tissue symptom that is characterized by the outer layer of the skin starting to replace itself. Often, this happens when skin is damaged, either by disease or injury. http://purl.obolibrary.org/obo/SYMP_0000492 urinary incontinence http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the an inability of the body to control the evacuative functions. http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/DOID_0070725 spermatogenic failure 96 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to nonobstructive azoospermia with reduced numbers of spermatocytes and no spermatids seen in testicular tissue, resulting from apparent arrest of spermatogenesis at the zygotene stage, that has_material_basis_in homozygous mutation in the SPATA22 gene on chromosome 17p13. http://purl.obolibrary.org/obo/SYMP_0000494 renal colic http://purl.obolibrary.org/obo/SYMP_0000235 colic A colic that is characterized by a severe pain produced by the passage of a calculus from the kidney through the ureter. http://purl.obolibrary.org/obo/NCBITaxon_2801844 Arachnia http://purl.obolibrary.org/obo/NCBITaxon_31957 Propionibacteriaceae http://purl.obolibrary.org/obo/DOID_0070726 spermatogenic failure 97 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella, and a reduced concentration of sperm that has_material_basis_in homozygous mutation in the NUP210L gene on chromosome 1p21. http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a pain in the head. http://purl.obolibrary.org/obo/SYMP_0000517 hemoptysis http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an expectoration of blood from some part of the respiratory tract. http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_31979 Clostridiaceae http://purl.obolibrary.org/obo/DOID_0070727 spermatogenic failure 98 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP54 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0070728 spermatogenic failure 99 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced sperm progressive motility, sperm with a thin midpiece, absence of the annulus, and disorganization of the mitochondrial sheath that has_material_basis_in homozygous mutation in the SEPTIN4 gene (603696) on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0070729 spermatogenic failure 100 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia resulting from multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH12 gene on chromosome 3p14. http://purl.obolibrary.org/obo/NCBITaxon_111527 pseudomallei group http://purl.obolibrary.org/obo/NCBITaxon_32008 Burkholderia http://purl.obolibrary.org/obo/SYMP_0000518 generalized abdominal pain http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain An abdominal pain that is characterized by being diffuse or widespread and affecting or involving all of the abdomen. http://purl.obolibrary.org/obo/DOID_0070730 spermatogenic failure 101 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ATG4D gene on chromosome 19p13. http://purl.obolibrary.org/obo/NCBITaxon_203490 Fusobacteriia http://purl.obolibrary.org/obo/NCBITaxon_32066 Fusobacteriota http://purl.obolibrary.org/obo/SYMP_0000530 palpitation http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom Palpitation is a cardiovascykar system symptom characterized by an abnormal awareness of the beating of the heart,whether it is too slow, too fast, irregular, or at its normal frequency when excited by violent exertion, strong emotion, or disease. http://purl.obolibrary.org/obo/DOID_0070731 spermatogenic failure 102 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia with sperm in reduced concentration that are immotile due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella that has_material_basis_in homozygous mutation in the CFAP206 gene on chromosome 6q15. http://purl.obolibrary.org/obo/NCBITaxon_1489341 Osteoglossocephalai http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_186626 Otophysi http://purl.obolibrary.org/obo/NCBITaxon_32519 Ostariophysi http://purl.obolibrary.org/obo/SYMP_0000542 epigastric abdominal pain http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain An abdominal pain that is characterized by occurring in the epigastrium, i.e. the upper part of the abdomen below the rib cage. http://purl.obolibrary.org/obo/DOID_0070732 familial juvenile hyperuricemic nephropathy 3 http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease An autosomal dominant tubulointerstitial kidney disease characterized by high serum uric acid and chronic renal failure with autosomal dominant inheritance that has_material_basis_in linkage to a 5.5 Mb region on chromosome 2p22.1-p21 between SNPs rs372139 and rs896986. http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/SYMP_0000543 memory loss http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by an unusual forgetfulness. One may not be able to remember new events, recall one or more memories of the past, or both. Memory loss may be for a short time and then resolve (transient), or it may not go away and get worse over time. http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom Diarrhea is a feces and droppng symptom involving the abnormally frequent intestinal evacuations with more or less fluid stools. http://purl.obolibrary.org/obo/SYMP_0000587 abnormal chest sound http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a sound of breathing that is not similar to that of the sound of moving air and may include: rhonchi (a low-pitched breath sound), crackles (a high-pitched breath sound), wheezing (a high-pitched whistling sound caused by narrowing of the bronchial tubes), and stridor (a harsh, vibratory sound caused by narrowing of the upper airway). http://purl.obolibrary.org/obo/DOID_0070733 multiple mitochondrial dysfunctions syndrome 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems that has_material_basis_in homozygous or compound heterozygous mutation in the GCSH gene on chromosome 16q23. http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/SYMP_0000596 convulsion http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by an abnormal violent and involuntary contraction or series of contractions of the muscles. http://purl.obolibrary.org/obo/DOID_0070734 episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by childhood onset of progressive muscle weakness and exercise intolerance, with episodic exacerbation, that has_material_basis_in homozygous mutation in the FDX2 gene on chromosome 19p13. Additional more variable features include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/SYMP_0000602 orthopnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by a difficulty in breathing that occurs when lying down and is relieved upon changing to an upright position (as in congestive heart failure). http://purl.obolibrary.org/obo/DOID_0070735 auditory neuropathy and optic atrophy http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease A multiple mitochondrial dysfunctions syndrome characterized by bilateral auditory neuropathy and optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25. http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/SYMP_0000604 wheezing http://purl.obolibrary.org/obo/SYMP_0000587 abnormal chest sound An abnormal chest sound that is characterized by breathing with difficulty usually with a whistling sound. http://purl.obolibrary.org/obo/SYMP_0000613 fever http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a rise of body temperature above the normal, whether as a natural response (as to infection) or artificially induced for therapeutic reasons. http://purl.obolibrary.org/obo/DOID_0070736 multiple mitochondrial dysfunctions syndrome 9B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25. http://purl.obolibrary.org/obo/NCBITaxon_72171 Ziziphus http://purl.obolibrary.org/obo/NCBITaxon_325284 Paliureae http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/SYMP_0000614 cough http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance. http://purl.obolibrary.org/obo/SYMP_0000632 hip pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the hip. http://purl.obolibrary.org/obo/DOID_0070737 multiple mitochondrial dysfunctions syndrome 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A multiple mitochondrial dysfunctions syndrome characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, respiratory insufficiency and central nervous symptoms, including learning difficulties and neurobehavioral comorbidities, that has_material_basis_in compound heterozygous mutation in the CIAO1 gene on chromosome 2q11. http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_153136 Deltaretrovirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/SYMP_0000675 acute diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea Acute diarrhea is a diarrhea with either or both a rapid onset or a short course. http://purl.obolibrary.org/obo/DOID_0070738 Al Kaissi syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability that has_material_basis_in homozygous mutation in the CDK10 gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0070739 autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by severely delayed psychomotor development, severely impaired intellectual development, and involuntary movements, including stereotypic movements, spasticity, and dystonia that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/SYMP_0000679 acute dyspnea http://purl.obolibrary.org/obo/SYMP_0019153 dyspnea A dyspnea that is characterized by a severe and sudden onset. http://purl.obolibrary.org/obo/DOID_0070740 cerebellar atrophy, developmental delay, and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy, seizures, and severe developmental delay, including the inability to walk and speech limited to a few words only, that has_material_basis_in homozygous mutation in the KCNMA1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/SYMP_0000680 acute weight loss http://purl.obolibrary.org/obo/SYMP_0000178 weight loss A weight loss that is characterized by a severe and sudden onset. http://purl.obolibrary.org/obo/DOID_0070741 cerebellar atrophy with seizures and variable developmental delay http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging, seizures, and variable developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_0070742 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A vitamin metabolic disorder characterized by combined immunodeficiency, megaloblastic anemia, and variable additional phenotypes including hyperhomocysteinemia, hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mildly impaired intellectual development, lymphopenia involving all subsets, and low T-cell receptor excision circles that has_material_basis_in compound heterozygous mutation in the MTHFD1 gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0070743 congenital facial palsy with ptosis and velopharyngeal dysfunction http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable congenital nonprogressive bilateral facial palsy, velopharyngeal dysfunction, and ptosis, without limitation of ocular abduction, limb abnormalities, or impaired cognition that has_material_basis_in heterozygous mutation in the TUBB6 gene on chromosome 18p11. http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/SYMP_0000686 chronic cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance marked by long duration, by frequent recurrence over a long time, and often by slowly progressing seriousness. http://purl.obolibrary.org/obo/DOID_0070744 early childhood-onset progressive leukodystrophy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development progressing to complete lack of communication and purposeful movement that has_material_basis_in homozygous mutation in the ACER3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/SYMP_0000712 infertility http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized the biological inability of a man or a woman to contribute to conception; or, the state of a woman who is unable to carry a pregnancy to full term. http://purl.obolibrary.org/obo/SYMP_0000742 gum bleeding http://purl.obolibrary.org/obo/SYMP_0000655 mouth bleeding Gum bleeding is a mouth symptom characterized by a copious discharge of blood from the blood vessels of the mucosal tissue that lies over the alveolar bone. http://purl.obolibrary.org/obo/SYMP_0000756 menorrhagia http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized an abnormally profuse menstrual flow. http://purl.obolibrary.org/obo/DOID_0070745 early-onset progressive encephalopathy with brain atrophy and spasticity http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by microcephaly, global developmental delay, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus that has_material_basis_in homozygous or compound heterozygous mutation in the TRAPPC12 gene on chromosome 2p25. http://purl.obolibrary.org/obo/NCBITaxon_1593277 Onygenales incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/SYMP_0000828 sore eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom Sore eyes is a eye symptom characterized by an inflammation of the thin covering of the eyeball and the inner eyelid brought about by a viral infection which may be highly contagious. http://purl.obolibrary.org/obo/DOID_0070746 HELIX syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia that has_material_basis_in homozygous mutation in the CLDN10 gene on chromosome 13q32. http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/SYMP_0000849 stillbirth http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by the birth of a dead fetus; in which a fetus that has died in the uterus, or during labor, or delivery, exits a woman's body. http://purl.obolibrary.org/obo/DOID_0070747 immunodeficiency, developmental delay, and hypohomocysteinemia http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia that has_material_basis_in heterozygous mutation in the NFE2L2 gene on chromosome 2q31. http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/SYMP_0000854 hypermenorrhea http://purl.obolibrary.org/obo/SYMP_0000756 menorrhagia A menorrhagia that is characterized by an abnormally profuse or prolonged menstrual flow. http://purl.obolibrary.org/obo/DOID_0070748 joint laxity, short stature, and myopia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by joint laxity, short stature, and severe myopia with prominent eyes that has_material_basis_in homozygous mutation in the GZF1 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_0070749 Mendez-Johnson immunoneurologic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by failure to thrive with poor overall growth and additional highly variable features including immune dysregulation and neurologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the RNU6ATAC gene on chromosome 9q34. http://purl.obolibrary.org/obo/NCBITaxon_33259 Toxocaridae http://purl.obolibrary.org/obo/NCBITaxon_33256 Ascaridoidea http://purl.obolibrary.org/obo/SYMP_0000855 metrorrhagia http://purl.obolibrary.org/obo/SYMP_0000756 menorrhagia A menorrhagia that is characterized by an irregular uterine bleeding, especially between menstrual periods. http://purl.obolibrary.org/obo/SYMP_0000868 breathing problems http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by a shortness of breath, a hard or uncomfortable intake of air, or the feeling that you're not getting enough air. http://purl.obolibrary.org/obo/SYMP_0000869 nasal congestion http://purl.obolibrary.org/obo/SYMP_0000237 congestion A congestion that is characterized by a blockage of the nasal passages, usually due to the membranes lining the nose becoming swollen from inflamed blood vessels. http://purl.obolibrary.org/obo/DOID_0070750 mitochondrial myopathy and ataxia http://purl.obolibrary.org/obo/DOID_699 mitochondrial myopathy A mitochondrial DNA depletion syndrome characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MSTO1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0070751 mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the WARS2 gene on chromosome 1p12. http://purl.obolibrary.org/obo/DOID_0070752 neonatal severe encephalopathy with lactic acidosis and brain abnormalities http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease characterized by onset at birth of progressive encephalopathy with little or no psychomotor development and brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities, associated with increased serum lactate that has_material_basis_in compound heterozygous mutation in the LIPT2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0070753 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by severely delayed psychomotor development apparent from infancy including delayed and difficulty walking, intellectual disability, and absent speech; decreased cortical white matter often with other brain anomalies; and variable additional features including hip dysplasia, tapering fingers, and seizures that has_material_basis_in heterozygous mutation in the RAB11B gene on chromosome 19p13. http://purl.obolibrary.org/obo/NCBITaxon_6267 Anisakidae http://purl.obolibrary.org/obo/NCBITaxon_33256 Ascaridoidea http://purl.obolibrary.org/obo/SYMP_0000870 icteric eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom Icteric eyes is a eye symptom characterized by yellowed eyes due to bile or bilirubin accumulation. http://purl.obolibrary.org/obo/DOID_0070754 neurodevelopmental disorder with microcephaly, ataxia, and seizures http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SARS1 gene on chromosome 1p13. http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/SYMP_0000873 otitis http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom Otitis is a ear symptom characterized as a general term for inflammation or infection of the ear, in both humans and other animals. http://purl.obolibrary.org/obo/DOID_0070755 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth; postnatal progressive microcephaly; and early-onset, frequent, and often intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the VARS1 gene on chromosome 6p21. http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/SYMP_0000878 transient fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by a rise of body temperature above the normal that is sustained for only a short period of time. http://purl.obolibrary.org/obo/DOID_0070756 neurodevelopmental disorder with variable motor and speech impairment http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DHX30 gene on chromosome 3p21. http://purl.obolibrary.org/obo/NCBITaxon_3701061 Eumetabola http://purl.obolibrary.org/obo/NCBITaxon_33340 Neoptera http://purl.obolibrary.org/obo/SYMP_0000879 low-grade fever http://purl.obolibrary.org/obo/SYMP_0000881 mild fever A mild fever that is characterized by a fever that does not exceed 38.5 degrees Celsius (101.3 degrees Fahrenheit). http://purl.obolibrary.org/obo/DOID_0070757 Pilarowski-Bjornsson syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed development, impaired intellectual development, speech apraxia, and mild dysmorphic features that has_material_basis_in heterozygous mutation in the CHD1 gene on chromosome 5q. http://purl.obolibrary.org/obo/NCBITaxon_1930602 Psocodea http://purl.obolibrary.org/obo/NCBITaxon_33342 Paraneoptera http://purl.obolibrary.org/obo/SYMP_0000880 prolonged fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by as persisting over a prolonged period of time. http://purl.obolibrary.org/obo/DOID_0070759 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6 http://purl.obolibrary.org/obo/DOID_12558 chronic progressive external ophthalmoplegia A chronic progressive external ophthalmoplegia characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle that has_material_basis_in homozygous mutation in the RRM1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/NCBITaxon_173087 Human papillomavirus types http://purl.obolibrary.org/obo/NCBITaxon_333774 unclassified Papillomaviridae http://purl.obolibrary.org/obo/SYMP_0000881 mild fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by being mild in form. http://purl.obolibrary.org/obo/DOID_0081463 recurrent respiratory papillomatosis http://purl.obolibrary.org/obo/DOID_2615 papilloma A respiratory system benign neoplasm that is characterized by recurrent wart-like growths on the surface of the larynx, trachea, or lungs, commonly caused by human papillomavirus types 6 and 11. http://purl.obolibrary.org/obo/NCBITaxon_3701062 Aparaglossata http://purl.obolibrary.org/obo/NCBITaxon_33392 Endopterygota http://purl.obolibrary.org/obo/SYMP_0000882 high fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by an elevated temperature. http://purl.obolibrary.org/obo/TRANS_0000025 copepod borne transmission http://purl.obolibrary.org/obo/TRANS_0000005 vector-borne transmission Copepod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary copepod vector to another host. http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/SYMP_0000883 very high fever http://purl.obolibrary.org/obo/SYMP_0000882 high fever A high fever that is characterized by extremely high temperatures. http://purl.obolibrary.org/obo/SYMP_0000886 hyperpyrexia http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by an extreme elevation of body temperature greater than, or equal to, 41.5 degrees Celsius (106.7 degrees Fahrenheit). http://purl.obolibrary.org/obo/SYMP_0000429 bradypnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by abnormally slow breathing. http://purl.obolibrary.org/obo/NCBITaxon_5794 Apicomplexa http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_5653 Kinetoplastea http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/SYMP_0000887 Pel-Epstein fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by association with Hodgkin's lymphoma, where the fever alternates weekly from high to low. http://purl.obolibrary.org/obo/SYMP_0000646 synovitis http://purl.obolibrary.org/obo/SYMP_0000313 joint inflammation Synovitis is a joint inflammation characterized by an inflammation of a synovial membrane usually with pain and swelling of the joint. http://purl.obolibrary.org/obo/NCBITaxon_337963 Neotominae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/SYMP_0000888 continuous fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by a temperature remaining above normal throughout the day and which does not fluctuate more than 1 degree Celsius in 24 hours. http://purl.obolibrary.org/obo/DOID_0080184 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma http://purl.obolibrary.org/obo/DOID_4926 bronchiolo-alveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/SYMP_0000889 remittent fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by a fever where the temperature remains above normal throughout the day and fluctuates more than 1 degree Celsius in 24 hours. http://purl.obolibrary.org/obo/DOID_0080185 mucinous bronchioloalveolar adenocarcinoma http://purl.obolibrary.org/obo/DOID_4926 bronchiolo-alveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/SYMP_0000890 relapsing fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by body temperature periodically rising and falling. http://purl.obolibrary.org/obo/DOID_0080186 nonmucinous bronchioloalveolar adenocarcinoma http://purl.obolibrary.org/obo/DOID_4926 bronchiolo-alveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/SYMP_0000892 sensation perception http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by interpretation of the information perceived by sensory receptors. http://purl.obolibrary.org/obo/DOID_0080187 chronic neutrophilic leukemia http://purl.obolibrary.org/obo/DOID_1036 chronic leukemia A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/SYMP_0019145 vomiting http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom Vomiting is a digestive system symptom characterized by throwing up the stomach contents. http://purl.obolibrary.org/obo/DOID_0080188 chronic myelomonocytic leukemia http://purl.obolibrary.org/obo/DOID_1036 chronic leukemia A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. http://purl.obolibrary.org/obo/NCBITaxon_42407 Neotoma http://purl.obolibrary.org/obo/NCBITaxon_337963 Neotominae http://purl.obolibrary.org/obo/SYMP_0019153 dyspnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by difficult or labored respiration. http://purl.obolibrary.org/obo/NCBITaxon_1437183 Mesangiospermae http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/DOID_0080189 malignant hemangioma http://purl.obolibrary.org/obo/DOID_175 vascular cancer A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen. http://purl.obolibrary.org/obo/SYMP_0019161 muscle pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a pain in one or more muscles. http://purl.obolibrary.org/obo/NCBITaxon_780 Rickettsia http://purl.obolibrary.org/obo/NCBITaxon_33988 Rickettsieae http://purl.obolibrary.org/obo/DOID_0080190 malignant epithelioid hemangioendothelioma http://purl.obolibrary.org/obo/DOID_0080189 malignant hemangioma A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. http://purl.obolibrary.org/obo/SYMP_0019177 fatigue http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a weariness or exhaustion from labor, exertion, or stress. http://purl.obolibrary.org/obo/NCBITaxon_69474 Orientia http://purl.obolibrary.org/obo/NCBITaxon_33988 Rickettsieae http://purl.obolibrary.org/obo/DOID_0080192 relapsed/refractory diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. http://purl.obolibrary.org/obo/SYMP_0019180 constipation http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom Constipation is a feces and droppings symptom involving the abnormally delayed or infrequent passage of dry hardened feces. Constipation may be categorized into three subtypes: normal-transit, slow-transit, and pelvic floor dysfunction. http://purl.obolibrary.org/obo/NCBITaxon_262 Francisella http://purl.obolibrary.org/obo/NCBITaxon_34064 Francisellaceae http://purl.obolibrary.org/obo/DOID_0080199 colorectal carcinoma http://purl.obolibrary.org/obo/DOID_9256 colorectal cancer A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. http://purl.obolibrary.org/obo/SYMP_0000023 disorientation http://purl.obolibrary.org/obo/SYMP_0000016 confusion A confusion that is characterized by an usually transient state of confusion especially as to time, place, or identity; often as a result of disease or drugs. http://purl.obolibrary.org/obo/NCBITaxon_34105 Streptobacillus moniliformis http://purl.obolibrary.org/obo/NCBITaxon_34104 Streptobacillus http://purl.obolibrary.org/obo/DOID_0080200 bilateral renal aplasia http://purl.obolibrary.org/obo/DOID_14766 renal agenesis A renal agenesis that is characterized by the absence of both kidneys at birth. http://purl.obolibrary.org/obo/NCIT_C44357 Chromium Hexavalent Compound http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A highly corrosive, inorganic substance that contains the metallic element chromium in its positive-6 valence state. Chromium hexavalent compounds are used in stainless steel production, in chrome plating, in the manufacture of dyes and pigments, in leather tanning, in wood preservation and are used as corrosion inhibitors. Inhalation exposure of these compounds mainly affects the respiratory tract causing shortness of breath, nasal itching, asthma, coughing, bronchitis and pneumonia, but can also affect the liver, kidneys, gastrointestinal tract and the immune system. Chromium hexavalent compounds are carcinogenic in humans and are associated with an increased risk of developing lung cancer and cancer of the sinonasal cavity. http://purl.obolibrary.org/obo/NCBITaxon_43987 Geotrichum http://purl.obolibrary.org/obo/NCBITaxon_34353 Dipodascaceae http://purl.obolibrary.org/obo/DOID_0080201 Peters plus syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. http://purl.obolibrary.org/obo/DOID_0080525 differentiated high-grade thyroid carcinoma http://purl.obolibrary.org/obo/DOID_0080524 thyroid gland adenocarcinoma A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. http://purl.obolibrary.org/obo/NCBITaxon_34390 Epidermophyton http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/DOID_0080352 X-linked chondrodysplasia punctata 2 http://purl.obolibrary.org/obo/DOID_2581 chondrodysplasia punctata A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that involves multiple components of the immune system. http://purl.obolibrary.org/obo/DOID_0080353 X-linked recessive hypophosphatemic rickets http://purl.obolibrary.org/obo/DOID_10609 rickets A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/NCBITaxon_1915381 Nannizzia http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/DOID_0080827 human cytomegalovirus infection http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5). http://purl.obolibrary.org/obo/ECO_0007636 curator inference from database http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from authoritative resource based on information located in a queryable database and is optimized for computers. http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/NCBITaxon_34395 Chaetothyriales http://purl.obolibrary.org/obo/DOID_0080828 VEXAS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work where the reference is to an entry in a compendium that provides summarized information on a subject. http://purl.obolibrary.org/obo/NCBITaxon_181088 Haemaphysalis flava http://purl.obolibrary.org/obo/NCBITaxon_34622 Haemaphysalis http://purl.obolibrary.org/obo/DOID_0080829 low grade glioma http://purl.obolibrary.org/obo/DOID_936 brain disease A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). http://purl.obolibrary.org/obo/ECO_0007638 curator inference from Wikipedia http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia A type of curator inference from encyclopedia where the reference is to a Wikipedia article. http://purl.obolibrary.org/obo/NCBITaxon_523089 Haemaphysalis concinna http://purl.obolibrary.org/obo/NCBITaxon_34622 Haemaphysalis http://purl.obolibrary.org/obo/DOID_0080830 childhood low-grade glioma http://purl.obolibrary.org/obo/DOID_0080829 low grade glioma A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. http://purl.obolibrary.org/obo/NCBITaxon_426455 Rhipicephalus http://purl.obolibrary.org/obo/NCBITaxon_34630 Rhipicephalus http://purl.obolibrary.org/obo/ECO_0007639 curator inference from Britannica http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia A type of curator inference from encyclopedia where the reference is to an Encyclopedia Britannica article. http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/DOID_0080932 primary localized cutaneous amyloidosis 3 http://purl.obolibrary.org/obo/DOID_0050639 primary cutaneous amyloidosis A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. http://purl.obolibrary.org/obo/ECO_0007640 curator inference from MedlinePlus encyclopedia http://purl.obolibrary.org/obo/ECO_0007637 curator inference from encyclopedia A type of curator inference from encyclopedia in which the reference is to an article in the National Library of Medicine's MedLinePlus encyclopedia. http://purl.obolibrary.org/obo/NCBITaxon_9895 Bovidae http://purl.obolibrary.org/obo/NCBITaxon_35500 Pecora http://purl.obolibrary.org/obo/DOID_0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work in which the entry comes from a collection of words with definitions, usages, pronounciations, and more. http://purl.obolibrary.org/obo/NCBITaxon_118882 Brucellaceae http://purl.obolibrary.org/obo/NCBITaxon_356 Hyphomicrobiales http://purl.obolibrary.org/obo/DOID_0112367 Coffin-Siris syndrome 8 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0112368 Coffin-Siris syndrome 5 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/ECO_0007642 curator inference from Oxford Dictionary http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary A type of curator inference from dictionary in which the reference is to an entry in the Oxford Dictionaries. http://purl.obolibrary.org/obo/NCBITaxon_772 Bartonellaceae http://purl.obolibrary.org/obo/NCBITaxon_356 Hyphomicrobiales http://purl.obolibrary.org/obo/DOID_0112369 Coffin-Siris syndrome 7 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/ECO_0007643 curator inference from Merriam-Webster Dictionary http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary A type of curator inference from dictionary in which the reference is to an entry in the Merriam-Webster Dictionary. http://purl.obolibrary.org/obo/NCBITaxon_147368 Pooideae http://purl.obolibrary.org/obo/NCBITaxon_359160 BOP clade http://purl.obolibrary.org/obo/DOID_0112370 Coffin-Siris syndrome 12 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/ECO_0007644 curator inference from MedlinePlus dictionary http://purl.obolibrary.org/obo/ECO_0007641 curator inference from dictionary A type of curator inference from dictionary in which the reference is to an entry in the National Library of Medicine's MedLinePlus dictionary. http://purl.obolibrary.org/obo/NCBITaxon_325284 Paliureae http://purl.obolibrary.org/obo/NCBITaxon_3608 Rhamnaceae http://purl.obolibrary.org/obo/DOID_0112371 Coffin-Siris syndrome 10 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. http://purl.obolibrary.org/obo/ECO_0007645 curator inference from journal publication http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work reporting on research findings. http://purl.obolibrary.org/obo/NCBITaxon_36087 Trichuris trichiura http://purl.obolibrary.org/obo/NCBITaxon_36086 Trichuris http://purl.obolibrary.org/obo/DOID_0112372 Coffin-Siris syndrome 11 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. http://purl.obolibrary.org/obo/ECO_0007646 curator inference from book http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source A type of curator inference from published work based on a book, which may be a reference to a URL (for ebooks) or a DOI. http://purl.obolibrary.org/obo/NCBITaxon_1003877 Benincaseae http://purl.obolibrary.org/obo/NCBITaxon_3650 Cucurbitaceae http://purl.obolibrary.org/obo/NCBITaxon_3656 Cucumis melo http://purl.obolibrary.org/obo/NCBITaxon_3655 Cucumis http://purl.obolibrary.org/obo/DOID_0112373 autosomal dominant auditory neuropathy 3 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/ECO_0007647 curator inference from authoritative source http://purl.obolibrary.org/obo/ECO_0000000 evidence A type of curator inference that is from what is generally considered an authoritative source on the topic, including model organism databases, newspaper articles, books, journal publications, etc. http://purl.obolibrary.org/obo/NCBITaxon_6033 Encephalitozoon http://purl.obolibrary.org/obo/NCBITaxon_36734 Unikaryonidae http://purl.obolibrary.org/obo/DOID_0112376 muscular dystrophy-dystroglycanopathy type B15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset http://purl.obolibrary.org/obo/HP_0003674 onset Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. http://purl.obolibrary.org/obo/NCBITaxon_3608 Rhamnaceae http://purl.obolibrary.org/obo/NCBITaxon_3744 Rosales http://purl.obolibrary.org/obo/DOID_0112377 muscular dystrophy-dystroglycanopathy type B14 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31. http://purl.obolibrary.org/obo/DOID_0080614 oculocutaneous albinism type VI http://purl.obolibrary.org/obo/DOID_0050632 oculocutaneous albinism An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. http://purl.obolibrary.org/obo/NCBITaxon_3745 Rosaceae http://purl.obolibrary.org/obo/NCBITaxon_3744 Rosales http://purl.obolibrary.org/obo/DOID_0112378 muscular dystrophy-dystroglycanopathy type B3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1. http://purl.obolibrary.org/obo/DOID_0112102 Sotos syndrome 2 http://purl.obolibrary.org/obo/DOID_14748 Sotos syndrome A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13. http://purl.obolibrary.org/obo/NCBITaxon_171637 Amygdaloideae http://purl.obolibrary.org/obo/NCBITaxon_3745 Rosaceae http://purl.obolibrary.org/obo/DOID_0112379 muscular dystrophy-dystroglycanopathy type B4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. http://purl.obolibrary.org/obo/DOID_0112103 Sotos syndrome 1 http://purl.obolibrary.org/obo/DOID_14748 Sotos syndrome A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. http://purl.obolibrary.org/obo/NCBITaxon_3750 Malus domestica http://purl.obolibrary.org/obo/NCBITaxon_3749 Malus http://purl.obolibrary.org/obo/DOID_0112380 muscular dystrophy-dystroglycanopathy type B2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_0112104 Sotos syndrome 3 http://purl.obolibrary.org/obo/DOID_14748 Sotos syndrome A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. http://purl.obolibrary.org/obo/NCBITaxon_36596 Prunus armeniaca http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/DOID_0112381 muscular dystrophy-dystroglycanopathy type C12 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_0112105 X-linked parkinsonism-spasticity syndrome http://purl.obolibrary.org/obo/DOID_480 movement disease A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/NCBITaxon_3758 Prunus domestica http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/DOID_0112382 muscular dystrophy-dystroglycanopathy type C8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. http://purl.obolibrary.org/obo/DOID_0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia http://purl.obolibrary.org/obo/DOID_0080352 X-linked chondrodysplasia punctata 2 A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/NCBITaxon_3760 Prunus persica http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/DOID_0112383 KINSSHIP syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/DOID_0112107 McLeod syndrome http://purl.obolibrary.org/obo/DOID_0050765 neuroacanthocytosis A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. http://purl.obolibrary.org/obo/NCBITaxon_42229 Prunus avium http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/SYMP_0020053 mammary gland inflammation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an inflammation of the mammary gland or udder and usually caused by infection. http://purl.obolibrary.org/obo/DOID_0112108 myofibrillar myopathy 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. http://purl.obolibrary.org/obo/NCBITaxon_44281 Pneumocystaceae http://purl.obolibrary.org/obo/NCBITaxon_37987 Pneumocystales http://purl.obolibrary.org/obo/SYMP_0020054 severe mammary gland inflammation http://purl.obolibrary.org/obo/SYMP_0020053 mammary gland inflammation A mammary gland inflammation that is characterized by an increased intensity or severity of the condition. http://purl.obolibrary.org/obo/DOID_0112109 spermatogenic failure 44 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1. http://purl.obolibrary.org/obo/NCBITaxon_4479 Poaceae http://purl.obolibrary.org/obo/NCBITaxon_38820 Poales http://purl.obolibrary.org/obo/SYMP_0020056 cerebrovascular accident http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by a loss of blood flow to part of the brain, which damages brain tissue. Cerebrovascular accidents are caused by blood clots and broken blood vessels in the brain. http://purl.obolibrary.org/obo/DOID_0112110 combined oxidative phosphorylation deficiency 49 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/NCBITaxon_121759 Paracoccidioides brasiliensis http://purl.obolibrary.org/obo/NCBITaxon_38946 Paracoccidioides http://purl.obolibrary.org/obo/SYMP_0020057 bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by acute inflammation of the bronchi, accompanied by inflamed patches in the nearby lobules of the lungs. http://purl.obolibrary.org/obo/DOID_0112111 combined oxidative phosphorylation deficiency 50 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/DOID_0081335 Becker disease http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0112112 combined oxidative phosphorylation deficiency 48 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/DOID_0081424 familial focal epilepsy with variable foci 4 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_0112113 combined oxidative phosphorylation deficiency 45 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/DOID_0070532 aniridia 1 http://purl.obolibrary.org/obo/DOID_12271 aniridia An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. http://purl.obolibrary.org/obo/DOID_0112114 combined oxidative phosphorylation deficiency 47 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_54292 Apodemus flavicollis http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_310911 Amdoparvovirus http://purl.obolibrary.org/obo/NCBITaxon_40119 Parvovirinae http://purl.obolibrary.org/obo/NCBITaxon_40121 Erythroparvovirus http://purl.obolibrary.org/obo/NCBITaxon_40119 Parvovirinae http://purl.obolibrary.org/obo/DOID_0070519 early-onset vitamin B6-dependent epilepsy 4 http://purl.obolibrary.org/obo/DOID_0080768 pyridoxine-dependent epilepsy A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. http://purl.obolibrary.org/obo/DOID_0112115 combined oxidative phosphorylation deficiency 46 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. http://purl.obolibrary.org/obo/NCBITaxon_157540 Zygodontomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/DOID_0081404 BCOR-CCNB3 sarcoma http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. http://purl.obolibrary.org/obo/DOID_0112116 combined oxidative phosphorylation deficiency 43 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/DOID_0060930 developmental dysplasia of the hip http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. http://purl.obolibrary.org/obo/DOID_0112117 combined oxidative phosphorylation deficiency 40 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. http://purl.obolibrary.org/obo/NCBITaxon_29120 Oligoryzomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/DOID_0112118 combined oxidative phosphorylation deficiency 42 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0060949 3-hydroxyisobutryl-CoA hydrolase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. http://purl.obolibrary.org/obo/NCBITaxon_29122 Oryzomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/DOID_0112119 combined oxidative phosphorylation deficiency 41 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. http://purl.obolibrary.org/obo/NCBITaxon_42414 Sigmodon http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/DOID_0060952 polycystic kidney disease 7 http://purl.obolibrary.org/obo/DOID_898 autosomal dominant polycystic kidney disease A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. http://purl.obolibrary.org/obo/DOID_0112120 SHOX-related short stature http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. http://purl.obolibrary.org/obo/NCBITaxon_431037 unclassified Roseolovirus http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/NCBITaxon_3050298 Roseolovirus humanbeta7 http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/DOID_0060954 Holoprosencephaly 13, X-linked http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. http://purl.obolibrary.org/obo/DOID_0112121 nephrogenic syndrome of inappropriate antidiuresis http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. http://purl.obolibrary.org/obo/NCBITaxon_3050297 Roseolovirus humanbeta6b http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/DOID_0060964 Loeys-Dietz syndrome 6 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0112122 X-linked epilepsy with variable learning disabilities and behavior disorders http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/DOID_0060965 episodic ataxia type 9 http://purl.obolibrary.org/obo/DOID_963 episodic ataxia An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. http://purl.obolibrary.org/obo/DOID_0112123 deafness, dystonia, and cerebral hypomyelination http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0112124 X-linked retinitis pigmentosa and sinorespiratory infections http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/NCBITaxon_4070 Solanaceae http://purl.obolibrary.org/obo/NCBITaxon_4069 Solanales http://purl.obolibrary.org/obo/NCBITaxon_424551 Solanoideae http://purl.obolibrary.org/obo/NCBITaxon_4070 Solanaceae http://purl.obolibrary.org/obo/DOID_0060969 galactosemia 4 http://purl.obolibrary.org/obo/DOID_9870 galactosemia A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. http://purl.obolibrary.org/obo/DOID_0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. http://purl.obolibrary.org/obo/DOID_0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060879 primary hypomagnesemia A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_0112125 alpha-thalassemia myelodysplasia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/NCBITaxon_49274 Solanum subgen. Lycopersicon http://purl.obolibrary.org/obo/NCBITaxon_4107 Solanum http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/DOID_0070576 spermatogenic failure 77 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23. http://purl.obolibrary.org/obo/DOID_0112126 Stocco Dos Santos type X-linked intellectual disability http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_0112127 HRPT-related hyperuricemia http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. http://purl.obolibrary.org/obo/DOID_0112128 X-linked severe congenital neutropenia http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. http://purl.obolibrary.org/obo/DOID_0112129 severe congenital neutropenia 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. http://purl.obolibrary.org/obo/DOID_0112130 autosomal dominant severe congenital neutropenia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. http://purl.obolibrary.org/obo/NCBITaxon_5597 Scedosporium boydii http://purl.obolibrary.org/obo/NCBITaxon_41687 Scedosporium http://purl.obolibrary.org/obo/DOID_0070613 familial renal glucosuria http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0112131 severe congenital neutropenia 2 http://purl.obolibrary.org/obo/DOID_0112130 autosomal dominant severe congenital neutropenia An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. http://purl.obolibrary.org/obo/NCBITaxon_8006 Salmoniformes http://purl.obolibrary.org/obo/NCBITaxon_41705 Protacanthopterygii http://purl.obolibrary.org/obo/DOID_0070606 autosomal dominant nonsyndromic deafness 87 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_0112132 severe congenital neutropenia 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. http://purl.obolibrary.org/obo/NCBITaxon_36330 Plasmodium ovale http://purl.obolibrary.org/obo/NCBITaxon_418103 Plasmodium http://purl.obolibrary.org/obo/DOID_0051004 congenital nonspherocytic hemolytic anemia 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0112133 severe congenital neutropenia 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/NCBITaxon_5855 Plasmodium vivax http://purl.obolibrary.org/obo/NCBITaxon_418103 Plasmodium http://purl.obolibrary.org/obo/DOID_0051054 coarctation of the aorta http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure. http://purl.obolibrary.org/obo/DOID_0112134 severe congenital neutropenia 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. http://purl.obolibrary.org/obo/NCBITaxon_5833 Plasmodium falciparum http://purl.obolibrary.org/obo/NCBITaxon_418107 Laverania http://purl.obolibrary.org/obo/DOID_0051056 immunodeficiency 113 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_0051057 avoidant/restrictive food intake disorder http://purl.obolibrary.org/obo/DOID_8670 eating disorder An eating disorder that is characterized by a persistent pattern of avoidant or selective eating that fails to meet nutritional needs and results in significant nutritional deficiency or weight loss. http://purl.obolibrary.org/obo/DOID_0112135 severe congenital neutropenia 8 http://purl.obolibrary.org/obo/DOID_0112130 autosomal dominant severe congenital neutropenia An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. http://purl.obolibrary.org/obo/NCBITaxon_43801 Ceratopogoninae http://purl.obolibrary.org/obo/NCBITaxon_41819 Ceratopogonidae http://purl.obolibrary.org/obo/NCBITaxon_7157 Culicidae http://purl.obolibrary.org/obo/NCBITaxon_41827 Culicoidea http://purl.obolibrary.org/obo/NCBITaxon_41819 Ceratopogonidae http://purl.obolibrary.org/obo/NCBITaxon_41828 Chironomoidea http://purl.obolibrary.org/obo/NCBITaxon_7197 Psychodidae http://purl.obolibrary.org/obo/NCBITaxon_41831 Psychodoidea http://purl.obolibrary.org/obo/DOID_0051058 acute calcific periarthritis http://purl.obolibrary.org/obo/DOID_2964 periarthritis A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation. http://purl.obolibrary.org/obo/DOID_0112136 severe congenital neutropenia 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/NCBITaxon_23513 Rutaceae http://purl.obolibrary.org/obo/NCBITaxon_41937 Sapindales http://purl.obolibrary.org/obo/NCBITaxon_5819 Haemosporida http://purl.obolibrary.org/obo/NCBITaxon_422676 Aconoidasida http://purl.obolibrary.org/obo/DOID_0051059 autosomal recessive Segawa syndrome http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_0112137 combined oxidative phosphorylation deficiency 51 http://purl.obolibrary.org/obo/DOID_0060286 combined oxidative phosphorylation deficiency A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. http://purl.obolibrary.org/obo/NCBITaxon_5863 Piroplasmida http://purl.obolibrary.org/obo/NCBITaxon_422676 Aconoidasida http://purl.obolibrary.org/obo/DOID_0051060 frontotemporal dementia 1 http://purl.obolibrary.org/obo/DOID_9255 frontotemporal dementia A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0112138 primary coenzyme Q10 deficiency 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_0112139 nuclear type mitochondrial complex I deficiency 35 http://purl.obolibrary.org/obo/DOID_0060536 mitochondrial complex I deficiency A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_0112140 retinitis pigmentosa 83 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. http://purl.obolibrary.org/obo/DOID_0112141 retinitis pigmentosa 84 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. http://purl.obolibrary.org/obo/NCBITaxon_5809 Sarcocystidae http://purl.obolibrary.org/obo/NCBITaxon_423054 Eimeriorina http://purl.obolibrary.org/obo/DOID_0051061 stroke http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen. http://purl.obolibrary.org/obo/DOID_0112142 retinitis pigmentosa 85 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. http://purl.obolibrary.org/obo/NCBITaxon_35082 Cryptosporidiidae http://purl.obolibrary.org/obo/NCBITaxon_423054 Eimeriorina http://purl.obolibrary.org/obo/NCBITaxon_42408 Neotoma albigula http://purl.obolibrary.org/obo/NCBITaxon_42407 Neotoma http://purl.obolibrary.org/obo/DOID_0051062 ischemic stroke http://purl.obolibrary.org/obo/DOID_0051061 stroke A stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain. http://purl.obolibrary.org/obo/DOID_0112143 retinitis pigmentosa 86 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34. http://purl.obolibrary.org/obo/NCBITaxon_134742 Sigmodon alstoni http://purl.obolibrary.org/obo/NCBITaxon_42414 Sigmodon http://purl.obolibrary.org/obo/DOID_0051063 hemorrhagic stroke http://purl.obolibrary.org/obo/DOID_0051061 stroke A stroke that is characterized by sudden bleeding in the brain. http://purl.obolibrary.org/obo/DOID_0112144 retinitis pigmentosa 87 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. http://purl.obolibrary.org/obo/NCBITaxon_42415 Sigmodon hispidus http://purl.obolibrary.org/obo/NCBITaxon_42414 Sigmodon http://purl.obolibrary.org/obo/DOID_0112145 retinitis pigmentosa 88 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. http://purl.obolibrary.org/obo/DOID_0112146 retinitis pigmentosa 89 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. http://purl.obolibrary.org/obo/DOID_0112147 retinitis pigmentosa 90 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. http://purl.obolibrary.org/obo/DOID_0051064 left ventricular failure http://purl.obolibrary.org/obo/DOID_6000 congestive heart failure A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs. http://purl.obolibrary.org/obo/NCBITaxon_424574 Solaneae http://purl.obolibrary.org/obo/NCBITaxon_424551 Solanoideae http://purl.obolibrary.org/obo/DOID_0112148 Uruguay faciocardiomusculoskeletal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. http://purl.obolibrary.org/obo/DOID_0051065 chronic pancreatitis http://purl.obolibrary.org/obo/DOID_4989 pancreatitis A pancreatitis that is characterized by long-term inflamation of the pancreas. http://purl.obolibrary.org/obo/NCBITaxon_4107 Solanum http://purl.obolibrary.org/obo/NCBITaxon_424574 Solaneae http://purl.obolibrary.org/obo/NCBITaxon_34625 Hyalomma http://purl.obolibrary.org/obo/NCBITaxon_426438 Hyalomminae http://purl.obolibrary.org/obo/DOID_0112149 terminal osseous dysplasia http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0051066 arterionephrosclerosis http://purl.obolibrary.org/obo/DOID_784 chronic kidney disease A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss. http://purl.obolibrary.org/obo/NCBITaxon_34622 Haemaphysalis http://purl.obolibrary.org/obo/NCBITaxon_426439 Haemaphysalinae http://purl.obolibrary.org/obo/DOID_0112150 X-linked spondyloepimetaphyseal dysplasia http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_0061135 infantile hypercalcemia 2 http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/NCBITaxon_426441 Amblyomminae http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/NCBITaxon_426442 Ixodinae http://purl.obolibrary.org/obo/DOID_0112151 corpus callosum agenesis-abnormal genitalia syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. http://purl.obolibrary.org/obo/DOID_0061136 infantile hypercalcemia 1 http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0112152 CHIME syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_0080903 embryonal tumor with multilayered rosettes, C19MC-altered http://purl.obolibrary.org/obo/DOID_0081286 embryonal tumor with multilayered rosettes An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. http://purl.obolibrary.org/obo/DOID_0112308 central precocious puberty http://purl.obolibrary.org/obo/DOID_28 endocrine system disease An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. http://purl.obolibrary.org/obo/DOID_0112309 central precocious puberty 2 http://purl.obolibrary.org/obo/DOID_0112308 central precocious puberty A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. http://purl.obolibrary.org/obo/DOID_0112310 central precocious puberty 1 http://purl.obolibrary.org/obo/DOID_0112308 central precocious puberty A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13. http://purl.obolibrary.org/obo/NCBITaxon_127007 Rhipicephalus pumilio http://purl.obolibrary.org/obo/NCBITaxon_426455 Rhipicephalus http://purl.obolibrary.org/obo/DOID_0081063 DICER1 syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. http://purl.obolibrary.org/obo/DOID_0061137 spinocerebellar ataxia 27B http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33. http://purl.obolibrary.org/obo/DOID_0061139 coronary atherosclerosis http://purl.obolibrary.org/obo/DOID_1936 atherosclerosis An atherosclerosis of the coronary vasculature. http://purl.obolibrary.org/obo/NCBITaxon_578835 Rhipicephalus sanguineus group http://purl.obolibrary.org/obo/NCBITaxon_426455 Rhipicephalus http://purl.obolibrary.org/obo/NCBITaxon_10368 Human betaherpesvirus 6 http://purl.obolibrary.org/obo/NCBITaxon_431037 unclassified Roseolovirus http://purl.obolibrary.org/obo/DOID_0081064 BN2 diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. http://purl.obolibrary.org/obo/DOID_0061141 complex cortical dysplasia with other brain malformations 12 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/NCBITaxon_5600 Phialophora http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_0081065 EZB diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. http://purl.obolibrary.org/obo/NCBITaxon_66225 Phaeoannellomyces http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_0061142 complex cortical dysplasia with other brain malformations 11 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32. http://purl.obolibrary.org/obo/NCBITaxon_5583 Exophiala http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_0081066 MCD diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. http://purl.obolibrary.org/obo/DOID_0061143 complex cortical dysplasia with other brain malformations 10 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/NCBITaxon_5587 Rhinocladiella http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_0081067 N1 diffuse large B-cell lymphoma http://purl.obolibrary.org/obo/DOID_0050745 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. http://purl.obolibrary.org/obo/DOID_0061144 complex cortical dysplasia with other brain malformations 13 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/NCBITaxon_82105 Cladophialophora http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_0081333 Wiedemann-Rautenstrauch syndrome http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_0061145 monilethrix 1 http://purl.obolibrary.org/obo/DOID_0050472 monilethrix A hair disease that is characterized by beading of the hair shaft caused by periodic constrictions and that has_material_basis_in heterozygous mutation in the hair cortex keratin gene KRT86 on chromosome 12q13. http://purl.obolibrary.org/obo/NCBITaxon_40354 Fonsecaea http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_0070369 restrictive dermopathy 1 http://purl.obolibrary.org/obo/DOID_0060762 restrictive dermopathy A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. http://purl.obolibrary.org/obo/DOID_0061147 neurodevelopmental disorder with or without autism or seizures http://purl.obolibrary.org/obo/DOID_225 syndrome An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36. http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/DOID_0070421 neurodevelopmental disorder with spasticity and poor growth http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. http://purl.obolibrary.org/obo/DOID_0061148 hereditary congenital ptosis 2 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A hereditary congenital ptosis that has_material_basis_in linkage to the X chromosome. http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/DOID_0070644 hereditary spastic paraplegia 92 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_0061149 hereditary congenital ptosis 1 http://purl.obolibrary.org/obo/DOID_0060261 congenital ptosis A hereditary congenital ptosis that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_480118 Eremoneura http://purl.obolibrary.org/obo/NCBITaxon_43733 Muscomorpha http://purl.obolibrary.org/obo/NCBITaxon_1262365 Tabanoidea http://purl.obolibrary.org/obo/NCBITaxon_43735 Tabanomorpha http://purl.obolibrary.org/obo/NCBITaxon_43741 Acalyptratae http://purl.obolibrary.org/obo/NCBITaxon_43738 Schizophora http://purl.obolibrary.org/obo/DOID_0061154 Mulvihill-Smith syndrome http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome A progeroid syndrome that is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and impaired intellectual development. http://purl.obolibrary.org/obo/DOID_0051100 hydroxyprolinemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized by elevated hydroxyproline levels, caused by a deficiency of the hydroxyproline oxidase enzyme resulting in deficient degradation of hydroxyproline, and that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase-2 (PRODH2) gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0051101 retinitis pigmentosa 108 http://purl.obolibrary.org/obo/DOID_10584 retinitis pigmentosa A retinitis pigmentosa that is characterized by onset of symptoms later in life (fourth to fifth decades) and that has_material_basis_in homozygous or compound heterozygous mutation in the SAXO6 gene on chromosome 12q15. Most affected individuals experience photophobia and reduced visual acuity, and funduscopy shows the typical changes of RP, with optic disc pallor, retinal vessel attenuation, and bone-spicule pigmentary changes in the midperiphery. http://purl.obolibrary.org/obo/DOID_0061150 familial isolated hypoparathyroidism 1 http://purl.obolibrary.org/obo/DOID_0111387 familial isolated hypoparathyroidism A familial isolated hypoparathyroidism that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15. http://purl.obolibrary.org/obo/NCBITaxon_43750 Sciomyzoidea http://purl.obolibrary.org/obo/NCBITaxon_43741 Acalyptratae http://purl.obolibrary.org/obo/DOID_0051102 acrofrontofacionasal dysostosis http://purl.obolibrary.org/obo/DOID_1934 dysostosis A dysostosis that is characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. http://purl.obolibrary.org/obo/DOID_0061151 familial isolated hypoparathyroidism 2 http://purl.obolibrary.org/obo/DOID_0111387 familial isolated hypoparathyroidism A familial isolated hypoparathyroidism that has_material_basis_in homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24. Some patients have been reported with heterozygous mutations in the GCM2 gene. http://purl.obolibrary.org/obo/NCBITaxon_169440 Coelopidae http://purl.obolibrary.org/obo/NCBITaxon_43750 Sciomyzoidea http://purl.obolibrary.org/obo/DOID_0061152 monilethrix 2 http://purl.obolibrary.org/obo/DOID_0050472 monilethrix A hair disease that is characterized by a 'beaded' appearance of affected hairs on microscopy, caused by elliptical nodes of normal thickness alternating with narrow, dystrophic constrictions and that has_material_basis_in heterozygous mutation in the KRT81 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0051103 acrofrontofacionasal dysostosis 2 http://purl.obolibrary.org/obo/DOID_0051102 acrofrontofacionasal dysostosis An acrofrontofacionasal dysostosis with genitourinary anomalies. http://purl.obolibrary.org/obo/NCBITaxon_41827 Culicoidea http://purl.obolibrary.org/obo/NCBITaxon_43786 Culicomorpha http://purl.obolibrary.org/obo/DOID_0061155 kyphomelic dysplasia http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_0051104 acrofrontofacionasal dysostosis 3 http://purl.obolibrary.org/obo/DOID_0051102 acrofrontofacionasal dysostosis An acrofrontofacionasal dysostosis that is characterized by multiple congenital anomalies and severely impaired psychomotor development and that has_material_basis_in mutation in the NBAS gene on chromosome 2p24. http://purl.obolibrary.org/obo/NCBITaxon_41828 Chironomoidea http://purl.obolibrary.org/obo/NCBITaxon_43786 Culicomorpha http://purl.obolibrary.org/obo/DOID_0061156 CASGID syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32. http://purl.obolibrary.org/obo/DOID_0070784 hormone receptor-positive breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by the presence of at least one of the estrogen or progesterone receptors. http://purl.obolibrary.org/obo/NCBITaxon_41831 Psychodoidea http://purl.obolibrary.org/obo/NCBITaxon_43787 Psychodomorpha http://purl.obolibrary.org/obo/DOID_0061157 retinopathy sensory neuropathy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inhomozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_0070785 hormone receptor-negative breast cancer http://purl.obolibrary.org/obo/DOID_1612 breast cancer A breast cancer characterized by the absence of hormone receptors. http://purl.obolibrary.org/obo/NCBITaxon_58262 Culicoidini http://purl.obolibrary.org/obo/NCBITaxon_43801 Ceratopogoninae http://purl.obolibrary.org/obo/DOID_0061158 Kariminejad neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with delayed walking by a few years, speech delay, and impaired intellectual development that has_material_basis_in homozygous mutation in the RBSN gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_0070783 idiopathic generalized epilepsy 20 http://purl.obolibrary.org/obo/DOID_1827 generalized epilepsy A generalized epilepsy characterized by partial epilepsy, with onset usually early in the first decade of life, that evolves to include complex partial seizures and secondary generalized tonic-clonic seizures associated with focal, and sometimes diffuse, EEG abnormalities that has_material_basis_in compound heterozygous mutation in the ZFHX3 gene on chromosome 16q22. http://purl.obolibrary.org/obo/NCBITaxon_1056966 Aedini http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease characterized by systemic autoimmune manifestations with infantile onset. http://purl.obolibrary.org/obo/DOID_0070786 triple positive breast cancer http://purl.obolibrary.org/obo/DOID_0070779 hormone receptor-positive/HER2-positive breast cancer A hormone receptor-positive/HER2-positive breast cancer characterized by excess HER2 (ERBB2) protein and the presence of both estrogen and progesterone receptors. http://purl.obolibrary.org/obo/NCBITaxon_53549 Sabethini http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/DOID_0061160 infantile onset multisystem autoimmune disease 1 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs that has_material_basis_in heterozygous gain of function mutation in the STAT3 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_0070787 Alsahan-Harris syndrome http://purl.obolibrary.org/obo/DOID_0060340 ciliopathy A ciliopathy characterized by severe brain defects, including holoprosencephaly and anencephaly, ocular defects including microphthalmia/anophthalmia and cyclopia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22. http://purl.obolibrary.org/obo/NCBITaxon_53550 Culicini http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/DOID_0061161 infantile onset multisystem autoimmune disease 2 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease that has_material_basis_in compound heterozygous mutation in the ZAP70 gene on chromosome 2q12. http://purl.obolibrary.org/obo/DOID_0070788 autosomal dominant adult-onset leukodystrophy without amyloid angiopathy http://purl.obolibrary.org/obo/DOID_10579 leukodystrophy A leukodystrophy characterized by adult onset of variable neurologic symptoms, including recurrent hemiplegic migraine associated with transient focal deficits, progressive motor abnormalities, and cognitive decline; brain imaging changes involving the deep cerebral white matter, posterior limb of the internal capsule, middle cerebellar peduncles, cerebral peduncles, and globus pallidus; micro- to macrocystic degeneration and cystatin C aggregates in the neuropil; and decreased cystatin C levels in serum and cerebrospinal fluid that has_material_basis_in heterozygous mutation in the CST3 gene on chromosome 20p11. http://purl.obolibrary.org/obo/NCBITaxon_59848 Chrysopsini http://purl.obolibrary.org/obo/NCBITaxon_43920 Chrysopsinae http://purl.obolibrary.org/obo/NCBITaxon_4753 Pneumocystis http://purl.obolibrary.org/obo/NCBITaxon_44281 Pneumocystaceae http://purl.obolibrary.org/obo/DOID_0061162 infantile onset multisystem autoimmune disease 3 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized by the onset of various systemic autoimmune manifestations in the first months or years of life that has_material_basis_in homozygous mutation in the CBLB gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_0070789 cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset lens cataract, generalized nonscarring alopecia, oral mucosal disorder, and severe psoriasiform skin lesions affecting the scalp, facial, inguinal region, buttocks and lower extremities that has_material_basis_in compound heterozygous mutation in the MBTPS1 gene on chromosome 1p21. http://purl.obolibrary.org/obo/NCBITaxon_445 Legionella http://purl.obolibrary.org/obo/NCBITaxon_444 Legionellaceae http://purl.obolibrary.org/obo/DOID_0061163 infantile onset multisystem autoimmune disease 4 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0070790 congenital nonprogressive movement disorder with ataxia and eye movement abnormalities http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by infantile hypotonia, delayed walking with an ataxic or unsteady gait, speech articulation difficulties, and ptosis, strabismus, or gaze palsies that has_material_basis_in heterozygous mutation in the ESRRG gene on chromosome 1q41. http://purl.obolibrary.org/obo/NCBITaxon_1437197 Petrosaviidae http://purl.obolibrary.org/obo/NCBITaxon_4447 Liliopsida http://purl.obolibrary.org/obo/DOID_0070791 craniofaciocardiohepatic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by orofacial clefting, congenital heart disease, tall stature with variable dysmorphic features, gastrointestinal involvement, and developmental delay that has_material_basis_in heterozygous mutation in the AMOTL1 gene on chromosome 11q21. http://purl.obolibrary.org/obo/NCBITaxon_446 Legionella pneumophila http://purl.obolibrary.org/obo/NCBITaxon_445 Legionella http://purl.obolibrary.org/obo/DOID_0061164 infantile onset multisystem autoimmune disease 5 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that has_material_basis_in homozygous mutation in the PDL1 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_0070792 Dursun-Ozgul neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by varying degrees of developmental disability, epilepsy, and movement disorders that has_material_basis_in homozygous mutation in the ELFN1 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_0070793 FICUS syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by dysmorphic facial features, impaired intellectual development, and multisystem features including cardiovascular, urogenital, skeletal, gastrointestinal, and ophthalmologic abnormalities that has_material_basis_in homozygous mutation in the LSM1 gene on chromosome 8p11. http://purl.obolibrary.org/obo/NCBITaxon_44537 Pyretophorus http://purl.obolibrary.org/obo/NCBITaxon_44534 Cellia http://purl.obolibrary.org/obo/DOID_0061165 proximal renal tubular acidosis http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular transport disease characterized by an inability of the distal tubule to generate a sufficiently large hydrogen ion gradient between blood and tubular fluid. http://purl.obolibrary.org/obo/DOID_0061166 autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron that has_material_basis_in homozygous mutation in the ATP6N1B gene on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0070794 Guillouet-Gordon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by intellectual disability, speech delay, and/or motor delay of variable severity associated with variable combinations of craniofacial defects, anomalies of the extremities, and heart defects that has_material_basis_in homozygous or compound heterozygous mutation in the MED16 gene on chromosome 19p13. http://purl.obolibrary.org/obo/NCBITaxon_59140 Myzomyia http://purl.obolibrary.org/obo/NCBITaxon_44534 Cellia http://purl.obolibrary.org/obo/DOID_0061167 autosomal recessive proximal renal tubular acidosis http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular transport disease characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. http://purl.obolibrary.org/obo/DOID_0070795 hyposulfatemia with skeletal dysplasia http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by reduced plasma sulfate levels, increased urinary sulfate excretion, and skeletal dysplasia, including proportionate short stature, epiphyseal abnormalities and metaphyseal flaring, and vertebral irregularities with kyphosis, lordosis, or scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A gene on chromosome 7q31. http://purl.obolibrary.org/obo/NCBITaxon_44542 gambiae species complex http://purl.obolibrary.org/obo/NCBITaxon_44537 Pyretophorus http://purl.obolibrary.org/obo/DOID_0061168 mitochondrial axonal Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/DOID_10595 Charcot-Marie-Tooth disease A Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur that has_material_basis_in mutation in the MTTV gene, which is encoded by the mitochondrial genome. http://purl.obolibrary.org/obo/DOID_0070796 ICHAD syndrome http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease characterized by onset of immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay soon after birth or in early infancy that has_material_basis_in heterozygous gain-of-function mutation in the IKZF2 gene on chromosome 2q34. Affected individuals have recurrent, mainly respiratory, infections and may have autoimmune features. http://purl.obolibrary.org/obo/NCBITaxon_7165 Anopheles gambiae http://purl.obolibrary.org/obo/NCBITaxon_44542 gambiae species complex http://purl.obolibrary.org/obo/NCBITaxon_29031 Phlebotomus papatasi http://purl.obolibrary.org/obo/NCBITaxon_44556 Phlebotomus http://purl.obolibrary.org/obo/DOID_0061171 immunodeficiency 130 with HPV-related verrucosis http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A primary immunodeficiency disease that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_0070797 immunodysregulation with variable immunodeficiency and autoimmunity http://purl.obolibrary.org/obo/DOID_2914 immune system disease An immune system disease characterized by variable manifestations ranging from immunodeficiency, including recurrent respiratory infections and chronic fungal or viral infections often associated with lymphopenia and hypogammaglobulinemia, to features of a primary immune regulatory disorder, including autoimmunity, autoinflammation, lymphoproliferation, systemic lupus erythematosus, and EBV-associated hemophagocytic lymphohistiocytosis, that has_material_basis_in putative loss-of-function mutation in the IKZF2 gene on chromosome 2q34. http://purl.obolibrary.org/obo/DOID_0061172 transient neonatal diabetes mellitus 3 http://purl.obolibrary.org/obo/DOID_0060334 transient neonatal diabetes mellitus A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. http://purl.obolibrary.org/obo/NCBITaxon_447135 Myodes glareolus http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/DOID_0081464 isolated glycolic aciduria http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder that is characterized by markedly elevated urinary and plasma glycolate without further metabolic disease consequences and that has_material_basis_in homozygous mutation in the HAO1 gene on chromosome 20p12. http://purl.obolibrary.org/obo/DOID_0061173 transient neonatal diabetes mellitus 1 http://purl.obolibrary.org/obo/DOID_0060334 transient neonatal diabetes mellitus A transient neonatal diabetes mellitus that has_material_basis_in overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 and HYMAI. http://purl.obolibrary.org/obo/NCBITaxon_359160 BOP clade http://purl.obolibrary.org/obo/NCBITaxon_4479 Poaceae http://purl.obolibrary.org/obo/DOID_0081465 neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, failure to thrive with poor overall growth, delayed walking or inability to walk, and severe to profoundly impaired intellectual development with absent or poor speech, and that has_material_basis_in homozygous mutation in the EIPR1 gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_0061174 transient neonatal diabetes mellitus 2 http://purl.obolibrary.org/obo/DOID_0060334 transient neonatal diabetes mellitus A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the ABCC8 gene on chromosome 11p15. http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/DOID_0081466 neurodevelopmental disorder with intellectual, visual, and language impairment http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by these cardinal features as well as motor delay, seizures, microcephaly, and dysmorphic features and that has_material_basis_in heterozygous mutation in the PIP5K1C gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0061175 Gollop-Wolfgang complex http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder characterized by bifurcation of the femur with ipsilateral tibial aplasia and split hand and monodactyly of the feet, resulting in severe and complex limb deformities. http://purl.obolibrary.org/obo/NCBITaxon_5204 Basidiomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/DOID_0061176 developmental and epileptic encephalopathy 118 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21. http://purl.obolibrary.org/obo/NCBITaxon_147553 Pneumocystomycetes http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/DOID_0081467 autosomal dominant intellectual developmental disorder 78 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by neurodevelopmental abnormalities including intellectual disability, language and motor delays, autism spectrum disorder, and epilepsy or seizures and that has_material_basis_in heterozygous mutation in the INTS6 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_0061177 X-linked spermatogenic failure 9 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that has_material_basis_in hemizygous mutation in the RBBP7 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_0081468 autosomal dominant intellectual developmental disorder 76 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, mildly to severely impaired intellectual development with speech and language deficits, and autism and that has_material_basis_in heterozygous mutation in the MARK2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/NCBITaxon_134362 Capnodiales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/DOID_0061178 autosomal recessive congenital nystagmus 8 http://purl.obolibrary.org/obo/DOID_0111797 autosomal recessive congenital nystagmus A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. http://purl.obolibrary.org/obo/DOID_0061179 Adams-Oliver syndrome 3 http://purl.obolibrary.org/obo/DOID_0060227 Adams-Oliver syndrome An Adams-Oliver syndrome that has_material_basis_in heterozygous mutation in the RBPJ gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_0081469 autosomal dominant intellectual developmental disorder 77 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay that leads to mild to moderate intellectual disability and that has_material_basis_in heterozygous mutation in the LRRC7 gene on chromosome 1q31.1. http://purl.obolibrary.org/obo/NCBITaxon_5014 Dothideales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/DOID_0081470 spermatogenic failure 103 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from meiotic arrest and that has_material_basis_in homozygous or compound heterozygous mutation in the MEI1 gene on chromosome 22q13. http://purl.obolibrary.org/obo/NCBITaxon_2726946 Cladosporiales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/DOID_0061180 familial hypercholanemia 3 http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder A steroid inherited metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the BAAT gene on chromosome 9q31. http://purl.obolibrary.org/obo/DOID_0061181 familial hypercholanemia 1 http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_0061182 familial hypercholanemia 2 http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_0061183 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A muscular disease characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported that has_material_basis_in homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12. http://purl.obolibrary.org/obo/NCBITaxon_2726947 Mycosphaerellales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/SYMP_0000005 ataxia http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by an inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders. http://purl.obolibrary.org/obo/TRANS_0000009 airborne transmission http://purl.obolibrary.org/obo/TRANS_0000002 indirect transmission Airborne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host while suspended in the air as dust. http://purl.obolibrary.org/obo/DOID_0061184 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A muscular disease characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life that has_material_basis_in heterozygous mutation in the DTNA gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_0061185 autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. http://purl.obolibrary.org/obo/NCBITaxon_92860 Pleosporales http://purl.obolibrary.org/obo/NCBITaxon_451868 Pleosporomycetidae http://purl.obolibrary.org/obo/ExO_0000013 acid rain http://purl.obolibrary.org/obo/ExO_0000007 ecological perturbation An ecological perturbation that is acidic water, usually pH 2.5 to 4.5, which poisons the ecosystem and adversely affects plants, fishes, and mammals. It is caused by industrial pollutants, mainly sulfur oxides and nitrogen oxides, emitted into the atmosphere and returning to earth in the form of acidic rain water. http://purl.obolibrary.org/obo/SYMP_0000534 spontaneous ecchymoses http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by the spontaneous escape of blood into the tissues from ruptured blood vessels marked by a livid black-and-blue or purple spot or area. http://purl.obolibrary.org/obo/DOID_0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death that has_material_basis_in homozygous or compound heterozygous mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase. The effect of the mutation on enzyme activity results solely from a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase. http://purl.obolibrary.org/obo/NCBITaxon_34395 Chaetothyriales http://purl.obolibrary.org/obo/NCBITaxon_451870 Chaetothyriomycetidae http://purl.obolibrary.org/obo/SYMP_0000164 incoordination http://purl.obolibrary.org/obo/SYMP_0000079 coordination symptom A coordination symptom that is characterized by a loss of complicated body movements, which may be caused by disease, injury, or toxins. http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/NCBITaxon_451871 Eurotiomycetidae http://purl.obolibrary.org/obo/DOID_0061187 multiple familial trichoepithelioma 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A facial dermatosis that has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. http://purl.obolibrary.org/obo/NCBITaxon_5042 Eurotiales http://purl.obolibrary.org/obo/NCBITaxon_451871 Eurotiomycetidae http://purl.obolibrary.org/obo/DOID_2442 paranasal sinus squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma A paranasal sinus cancer that derives_from squamous epithelial cells. http://purl.obolibrary.org/obo/NCBITaxon_5498 Cladosporium http://purl.obolibrary.org/obo/NCBITaxon_452563 Cladosporiaceae http://purl.obolibrary.org/obo/DOID_0061188 autosomal recessive sensory neuropathy with spastic paraplegia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy that has_material_basis_in homozygous mutation in the CCT5 gene on chromosome 5p15.2. http://purl.obolibrary.org/obo/DOID_0060903 thrombosis http://purl.obolibrary.org/obo/DOID_178 vascular disease A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. http://purl.obolibrary.org/obo/NCBITaxon_12058 Picornaviridae http://purl.obolibrary.org/obo/NCBITaxon_464095 Picornavirales http://purl.obolibrary.org/obo/DOID_0061189 neuronal ceroid lipofuscinosis 15 http://purl.obolibrary.org/obo/DOID_14503 neuronal ceroid lipofuscinosis A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_0110926 congenital myopathy 4B http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chromosome 1q21. http://purl.obolibrary.org/obo/NCBITaxon_38820 Poales http://purl.obolibrary.org/obo/NCBITaxon_4734 commelinids http://purl.obolibrary.org/obo/DOID_0061190 ReNU syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0110927 nemaline myopathy 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. http://purl.obolibrary.org/obo/NCBITaxon_42068 Pneumocystis jirovecii http://purl.obolibrary.org/obo/NCBITaxon_4753 Pneumocystis http://purl.obolibrary.org/obo/DOID_0061191 neonatal nephrocutaneous inflammatory syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11. http://purl.obolibrary.org/obo/DOID_0110928 nemaline myopathy 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. http://purl.obolibrary.org/obo/NCBITaxon_163158 Xenopsylla http://purl.obolibrary.org/obo/NCBITaxon_476427 Xenopsyllinae http://purl.obolibrary.org/obo/DOID_0061192 neonatal inflammatory skin and bowel disease 1 http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease that has_material_basis_in homozygous mutation in the ADAM17 gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_0110929 nemaline myopathy 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. http://purl.obolibrary.org/obo/NCBITaxon_43738 Schizophora http://purl.obolibrary.org/obo/NCBITaxon_480117 Cyclorrhapha http://purl.obolibrary.org/obo/DOID_0061193 nephrotic syndrome type 26 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of proteinuria in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0110930 nemaline myopathy 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. http://purl.obolibrary.org/obo/NCBITaxon_480117 Cyclorrhapha http://purl.obolibrary.org/obo/NCBITaxon_480118 Eremoneura http://purl.obolibrary.org/obo/DOID_0110931 nemaline myopathy 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. http://purl.obolibrary.org/obo/DOID_0061194 nephrotic syndrome type 24 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. that has_material_basis_in homozygous or compound heterozygous mutation in the DAAM2 gene on chromosome 6p21. http://purl.obolibrary.org/obo/NCBITaxon_482 Neisseria http://purl.obolibrary.org/obo/NCBITaxon_481 Neisseriaceae http://purl.obolibrary.org/obo/DOID_0110932 congenital myopathy 23 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. http://purl.obolibrary.org/obo/DOID_0110933 nemaline myopathy 11 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. http://purl.obolibrary.org/obo/DOID_0061195 proximal renal tubular acidosis-ocular anomaly syndrome http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular acidosis characterized by a decreased renal HCO3- threshold that has_material_basis_in homozygous mutation in the SLC4A4 gene on chromosome 4q13. http://purl.obolibrary.org/obo/NCBITaxon_4081 Solanum lycopersicum http://purl.obolibrary.org/obo/NCBITaxon_49274 Solanum subgen. Lycopersicon http://purl.obolibrary.org/obo/DOID_0110934 nemaline myopathy 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_0061196 Mietens syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. http://purl.obolibrary.org/obo/DOID_0061197 BCARD syndrome http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22. http://purl.obolibrary.org/obo/NCBITaxon_1570301 Saccotheciaceae http://purl.obolibrary.org/obo/NCBITaxon_5014 Dothideales http://purl.obolibrary.org/obo/DOID_0061198 Bethlem myopathy 1A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Bethlem myopathy that has_material_basis_in heterozygous mutation in the COL6A1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_0110935 nemaline myopathy 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. http://purl.obolibrary.org/obo/DOID_0061199 Bethlem myopathy 1B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A2 gene on chromosome 21q22. http://purl.obolibrary.org/obo/NCBITaxon_28568 Trichocomaceae http://purl.obolibrary.org/obo/NCBITaxon_5042 Eurotiales http://purl.obolibrary.org/obo/DOID_0110936 nemaline myopathy 5A http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. http://purl.obolibrary.org/obo/DOID_0061200 Bethlem myopathy 1C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37. http://purl.obolibrary.org/obo/NCBITaxon_1131492 Aspergillaceae http://purl.obolibrary.org/obo/NCBITaxon_5042 Eurotiales http://purl.obolibrary.org/obo/NCBITaxon_8016 Oncorhynchus http://purl.obolibrary.org/obo/NCBITaxon_504568 Salmoninae http://purl.obolibrary.org/obo/NCBITaxon_8028 Salmo http://purl.obolibrary.org/obo/NCBITaxon_504568 Salmoninae http://purl.obolibrary.org/obo/DOID_0110937 autosomal dominant osteopetrosis 1 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0061201 Bethlem myopathy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q. http://purl.obolibrary.org/obo/NCBITaxon_85512 Dicondylia http://purl.obolibrary.org/obo/NCBITaxon_50557 Insecta http://purl.obolibrary.org/obo/DOID_0110938 autosomal dominant osteopetrosis 2 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. http://purl.obolibrary.org/obo/NCBITaxon_517 Bordetella http://purl.obolibrary.org/obo/NCBITaxon_506 Alcaligenaceae http://purl.obolibrary.org/obo/DOID_0061202 congenital muscular dystrophy with rapid progression http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital muscular dystrophy characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the BET1 gene on chromosome 7q21. http://purl.obolibrary.org/obo/NCBITaxon_2752537 Talaromyces sect. Talaromyces http://purl.obolibrary.org/obo/NCBITaxon_5094 Talaromyces http://purl.obolibrary.org/obo/DOID_0061203 maple syrup urine disease type IA http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0061204 dihydrolipoamide dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31. http://purl.obolibrary.org/obo/DOID_0110939 autosomal recessive osteopetrosis 5 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. http://purl.obolibrary.org/obo/NCBITaxon_809 Chlamydiaceae http://purl.obolibrary.org/obo/NCBITaxon_51291 Chlamydiales http://purl.obolibrary.org/obo/DOID_0061205 mild variant of maple syrup urine disease http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that has_material_basis_in homozygous mutation in the PPM1K gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_0061206 maple syrup urine disease type IB http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_0110940 autosomal recessive osteopetrosis 8 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. http://purl.obolibrary.org/obo/NCBITaxon_5152 Ophiostomataceae http://purl.obolibrary.org/obo/NCBITaxon_5151 Ophiostomatales http://purl.obolibrary.org/obo/DOID_0061207 maple syrup urine disease type II http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease that has_material_basis_in homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 1p21. http://purl.obolibrary.org/obo/DOID_0110941 autosomal recessive osteopetrosis 3 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. http://purl.obolibrary.org/obo/NCBITaxon_29907 Sporothrix http://purl.obolibrary.org/obo/NCBITaxon_5152 Ophiostomataceae http://purl.obolibrary.org/obo/DOID_0110942 autosomal recessive osteopetrosis 1 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0061208 epidermolytic hyperkeratosis 2B http://purl.obolibrary.org/obo/DOID_0081359 epidermolytic hyperkeratosis 2 An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases that has_material_basis_in homozygous mutation in the KRT10 geneon chromosome 17q21. http://purl.obolibrary.org/obo/NCBITaxon_519 Bordetella parapertussis http://purl.obolibrary.org/obo/NCBITaxon_517 Bordetella http://purl.obolibrary.org/obo/DOID_0110943 autosomal recessive osteopetrosis 2 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_0061209 branchiootic syndrome 1 http://purl.obolibrary.org/obo/DOID_0060232 branchiootic syndrome A branchiootic syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13. http://purl.obolibrary.org/obo/NCBITaxon_520 Bordetella pertussis http://purl.obolibrary.org/obo/NCBITaxon_517 Bordetella http://purl.obolibrary.org/obo/DOID_0110944 autosomal recessive osteopetrosis 4 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_0061210 branchiootic syndrome 3 http://purl.obolibrary.org/obo/DOID_0060232 branchiootic syndrome A branchiootic syndrome that has_material_basis_in heterozygous mutation in the SIX1 gene on chromosome 14q23. http://purl.obolibrary.org/obo/NCBITaxon_5302 Agaricomycotina http://purl.obolibrary.org/obo/NCBITaxon_5204 Basidiomycota http://purl.obolibrary.org/obo/DOID_0110945 autosomal recessive osteopetrosis 6 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_0061211 Lafora disease 2 http://purl.obolibrary.org/obo/DOID_3534 Lafora disease A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22. http://purl.obolibrary.org/obo/NCBITaxon_452284 Ustilaginomycotina http://purl.obolibrary.org/obo/NCBITaxon_5204 Basidiomycota http://purl.obolibrary.org/obo/DOID_0110946 autosomal recessive osteopetrosis 7 http://purl.obolibrary.org/obo/DOID_13533 osteopetrosis An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. http://purl.obolibrary.org/obo/DOID_0061212 hypocholesteremia http://purl.obolibrary.org/obo/DOID_0014667 disease of metabolism A disease of metabolism characterized by resence of abnormally low (hypo-) levels of cholesterol in the blood (-emia). http://purl.obolibrary.org/obo/NCBITaxon_526525 Erysipelotrichales http://purl.obolibrary.org/obo/NCBITaxon_526524 Erysipelotrichia http://purl.obolibrary.org/obo/DOID_0110947 Waardenburg syndrome type 2B http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. http://purl.obolibrary.org/obo/DOID_0061213 telomere biology disorder http://purl.obolibrary.org/obo/DOID_630 genetic disease A genetic disease that is characterized by telomeres that are longer or shorter than usual. http://purl.obolibrary.org/obo/DOID_0061214 biliary obstruction http://purl.obolibrary.org/obo/DOID_4138 bile duct disease A bile duct disease characterized by an impairment of bile flow from the liver to the small intestine due to blockage of the biliary duct system. http://purl.obolibrary.org/obo/NCBITaxon_128827 Erysipelotrichaceae http://purl.obolibrary.org/obo/NCBITaxon_526525 Erysipelotrichales http://purl.obolibrary.org/obo/NCBITaxon_155616 Tremellomycetes http://purl.obolibrary.org/obo/NCBITaxon_5302 Agaricomycotina http://purl.obolibrary.org/obo/DOID_0110948 Waardenburg syndrome type 1 http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness; pigmentation anomalies of eyes, hair, and skin; and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_0061215 hepatic fibrosis http://purl.obolibrary.org/obo/DOID_409 liver disease A liver disease that is characterized by an excessive accumulation of extracellular matrix proteins that results in the development of scar tissue due to chronic inflammation or damage. http://purl.obolibrary.org/obo/NCBITaxon_162997 Culex annulirostris http://purl.obolibrary.org/obo/NCBITaxon_53527 Culex http://purl.obolibrary.org/obo/DOID_0110949 Waardenburg syndrome type 3 http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_0061216 pheochromocytoma/paraganglioma syndrome 1 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHD gene. http://purl.obolibrary.org/obo/NCBITaxon_7178 Culex tritaeniorhynchus http://purl.obolibrary.org/obo/NCBITaxon_53527 Culex http://purl.obolibrary.org/obo/DOID_0110950 Waardenburg syndrome type 2A http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. http://purl.obolibrary.org/obo/DOID_0061217 pheochromocytoma/paraganglioma syndrome 2 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHAF2 gene. http://purl.obolibrary.org/obo/NCBITaxon_7174 Culex http://purl.obolibrary.org/obo/NCBITaxon_53550 Culicini http://purl.obolibrary.org/obo/NCBITaxon_570 Klebsiella http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/DOID_0110951 Waardenburg syndrome type 2C http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. http://purl.obolibrary.org/obo/DOID_0061218 pheochromocytoma/paraganglioma syndrome 3 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHC gene. http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_590 Salmonella http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/DOID_0110953 Waardenburg syndrome type 4A http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. http://purl.obolibrary.org/obo/DOID_0061219 pheochromocytoma/paraganglioma syndrome 4 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHB gene, which encodes the iron sulfur subunit of succinate dehydrogenase, on chromosome 1p36. http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/NCBITaxon_548681 Herpesvirales http://purl.obolibrary.org/obo/DOID_0110954 Waardenburg syndrome type 4B http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_0061220 pheochromocytoma/paraganglioma syndrome 5 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHA gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_0061221 pheochromocytoma/paraganglioma syndrome 6 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the SLC25A11 gene on chromosome 17p13. http://purl.obolibrary.org/obo/NCBITaxon_5501 Coccidioides immitis http://purl.obolibrary.org/obo/NCBITaxon_5500 Coccidioides http://purl.obolibrary.org/obo/NCBITaxon_5970 Exophiala dermatitidis http://purl.obolibrary.org/obo/NCBITaxon_5583 Exophiala http://purl.obolibrary.org/obo/DOID_0110955 Waardenburg syndrome type 4C http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0061222 pheochromocytoma/paraganglioma syndrome 7 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the DLST gene on chromosome 14q24. http://purl.obolibrary.org/obo/NCBITaxon_86056 Rhinocladiella mackenziei http://purl.obolibrary.org/obo/NCBITaxon_5587 Rhinocladiella http://purl.obolibrary.org/obo/DOID_0110956 Waardenburg syndrome type 2E http://purl.obolibrary.org/obo/DOID_9258 Waardenburg syndrome A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0061223 epidermolytic hyperkeratosis 2A http://purl.obolibrary.org/obo/DOID_0081359 epidermolytic hyperkeratosis 2 An epidermolytic hyperkeratosis that is characterized by blistering, keratoderma, and erythroderma that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene on chromosome 17q21. http://purl.obolibrary.org/obo/NCBITaxon_5593 Microascaceae http://purl.obolibrary.org/obo/NCBITaxon_5592 Microascales http://purl.obolibrary.org/obo/DOID_0110957 Gaucher's disease type I http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0061224 Majeed syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia that has_material_basis_in homozygous mutation in the LPIN2 gene on chromosome 18p11. http://purl.obolibrary.org/obo/NCBITaxon_41687 Scedosporium http://purl.obolibrary.org/obo/NCBITaxon_5593 Microascaceae http://purl.obolibrary.org/obo/DOID_0110958 Gaucher's disease type II http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/NCBITaxon_2704647 Metakinetoplastina http://purl.obolibrary.org/obo/NCBITaxon_5653 Kinetoplastea http://purl.obolibrary.org/obo/NCBITaxon_1286322 Leishmaniinae http://purl.obolibrary.org/obo/NCBITaxon_5654 Trypanosomatidae http://purl.obolibrary.org/obo/NCBITaxon_3390273 Klebsiella pneumoniae complex http://purl.obolibrary.org/obo/NCBITaxon_570 Klebsiella http://purl.obolibrary.org/obo/DOID_0070636 mirror movements 1 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder characterized by mirror movements and/or agenesis of the corpus callosum that has_material_basis_in heterozygous mutation in the DCC gene on chromosome 18q21, with incomplete penetrance. http://purl.obolibrary.org/obo/DOID_0110959 Gaucher's disease type III http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/NCBITaxon_34632 Rhipicephalus sanguineus http://purl.obolibrary.org/obo/NCBITaxon_578835 Rhipicephalus sanguineus group http://purl.obolibrary.org/obo/DOID_0070637 mirror movements 2 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. http://purl.obolibrary.org/obo/NCBITaxon_1280412 Conoidasida http://purl.obolibrary.org/obo/NCBITaxon_5794 Apicomplexa http://purl.obolibrary.org/obo/DOID_0070638 mirror movements 4 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the NTN1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0110960 Gaucher's disease perinatal lethal http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/NCBITaxon_422676 Aconoidasida http://purl.obolibrary.org/obo/NCBITaxon_5794 Apicomplexa http://purl.obolibrary.org/obo/DOID_0070639 mirror movements 3 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder that has_material_basis_in homozygous mutation in the DNAL4 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0110961 atypical Gaucher's disease due to saposin c deficiency http://purl.obolibrary.org/obo/DOID_1926 Gaucher's disease A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/NCBITaxon_75739 Eucoccidiorida http://purl.obolibrary.org/obo/NCBITaxon_5796 Coccidia http://purl.obolibrary.org/obo/DOID_0070640 hereditary spastic paraplegia 18A http://purl.obolibrary.org/obo/DOID_0110771 hereditary spastic paraplegia 18 A hereditary spastic paraplegia 18 that has_material_basis_in heterozygous mutation in the ERLIN2 gene on chromosome 8p11. http://purl.obolibrary.org/obo/DOID_0070641 hereditary spastic paraplegia 18B http://purl.obolibrary.org/obo/DOID_0110771 hereditary spastic paraplegia 18 A hereditary spastic paraplegia 18 that has_material_basis_in homozygous mutation in the ERLIN2 gene on chromosome 8p11. http://purl.obolibrary.org/obo/DOID_0110962 brachydactyly-preaxial hallux varus syndrome http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/DOID_0070642 hereditary spastic paraplegia 72B http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in compound heterozygous mutation in the REEP2 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_0070643 hereditary spastic paraplegia 91 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0110963 Ballard syndrome http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_5810 Toxoplasma http://purl.obolibrary.org/obo/NCBITaxon_5809 Sarcocystidae http://purl.obolibrary.org/obo/DOID_0070645 hereditary spastic paraplegia 93 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. http://purl.obolibrary.org/obo/DOID_0110965 brachydactyly type A2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. http://purl.obolibrary.org/obo/NCBITaxon_1639119 Plasmodiidae http://purl.obolibrary.org/obo/NCBITaxon_5819 Haemosporida http://purl.obolibrary.org/obo/DOID_0070646 hereditary spastic paraplegia 30B http://purl.obolibrary.org/obo/DOID_0110781 hereditary spastic paraplegia 30 A hereditary spastic paraplegia 30 that has_material_basis_in homozygous mutation in the KIF1A gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0110966 brachydactyly type A3 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. http://purl.obolibrary.org/obo/NCBITaxon_41820 Culicoides http://purl.obolibrary.org/obo/NCBITaxon_58262 Culicoidini http://purl.obolibrary.org/obo/DOID_0070647 hereditary spastic paraplegia 30A http://purl.obolibrary.org/obo/DOID_0110781 hereditary spastic paraplegia 30 A hereditary spastic paraplegia 30 that has_material_basis_in heterozygous mutation in the KIF1A gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_0110967 brachydactyly type A4 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. http://purl.obolibrary.org/obo/NCBITaxon_59142 funestus group http://purl.obolibrary.org/obo/NCBITaxon_59140 Myzomyia http://purl.obolibrary.org/obo/NCBITaxon_62324 Anopheles funestus http://purl.obolibrary.org/obo/NCBITaxon_59142 funestus group http://purl.obolibrary.org/obo/NCBITaxon_36734 Unikaryonidae http://purl.obolibrary.org/obo/NCBITaxon_6032 Apansporoblastina http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/DOID_0070648 cherubism http://purl.obolibrary.org/obo/DOID_0080011 bone resorption disease A bone resorption disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling. http://purl.obolibrary.org/obo/DOID_0110968 brachydactyly type A6 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. http://purl.obolibrary.org/obo/NCBITaxon_147100 Rhabditophora http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/DOID_0070649 cherubism 2 http://purl.obolibrary.org/obo/DOID_0070648 cherubism A cherubism that has_material_basis_in homozygous mutation in the OGFRL1 gene on chromosome 6q13. http://purl.obolibrary.org/obo/DOID_0110969 brachydactyly type B1 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. http://purl.obolibrary.org/obo/NCBITaxon_6200 Eucestoda http://purl.obolibrary.org/obo/NCBITaxon_6199 Cestoda http://purl.obolibrary.org/obo/DOID_0070650 Ramon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth. http://purl.obolibrary.org/obo/DOID_0110970 brachydactyly type C http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/NCBITaxon_621 Shigella boydii http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/DOID_0070651 neurodevelopmental disorder with seizures and gingival overgrowth http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D2B gene on chromosome 15q24. Other more variable features include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, hypotonia, delayed development or developmental regression, cerebellar or cerebral atrophy, and enlarged brain ventricles. http://purl.obolibrary.org/obo/DOID_0110971 brachydactyly type D http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/NCBITaxon_622 Shigella dysenteriae http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/DOID_0070652 Nil-Deshwar neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0110972 brachydactyly type E1 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by shortening of the fingers, mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. http://purl.obolibrary.org/obo/NCBITaxon_623 Shigella flexneri http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/DOID_0070654 desmosterolosis http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32. http://purl.obolibrary.org/obo/DOID_0110973 Mononen-Karnes-Senac syndrome http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by short, abducted thumbs and great toes. http://purl.obolibrary.org/obo/NCBITaxon_624 Shigella sonnei http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/DOID_0070655 Usher syndrome type 1B http://purl.obolibrary.org/obo/DOID_0110826 Usher syndrome type 1 An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_0110974 brachydactyly type A1B http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. http://purl.obolibrary.org/obo/NCBITaxon_6201 Cyclophyllidea http://purl.obolibrary.org/obo/NCBITaxon_6200 Eucestoda http://purl.obolibrary.org/obo/DOID_0070656 hamartoma syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by the presence of multiple benign growths called hamartomas and an increased risk of cancer. http://purl.obolibrary.org/obo/NCBITaxon_1224679 Diphyllobothriidea http://purl.obolibrary.org/obo/NCBITaxon_6200 Eucestoda http://purl.obolibrary.org/obo/NCBITaxon_6208 Taeniidae http://purl.obolibrary.org/obo/NCBITaxon_6201 Cyclophyllidea http://purl.obolibrary.org/obo/NCBITaxon_6204 Taenia solium http://purl.obolibrary.org/obo/NCBITaxon_6202 Taenia http://purl.obolibrary.org/obo/DOID_0110975 brachydactyly type B2 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. http://purl.obolibrary.org/obo/DOID_0110976 brachydactyly type E2 http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. http://purl.obolibrary.org/obo/DOID_0070657 congenital variant of Rett syndrome http://purl.obolibrary.org/obo/DOID_936 brain disease A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1. http://purl.obolibrary.org/obo/NCBITaxon_6206 Taenia saginata http://purl.obolibrary.org/obo/NCBITaxon_6202 Taenia http://purl.obolibrary.org/obo/DOID_0110977 brachydactyly type A1C http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_0110978 brachydactyly type A1D http://purl.obolibrary.org/obo/DOID_0110964 brachydactyly type A1 A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. http://purl.obolibrary.org/obo/DOID_0070658 alcohol-associated liver disease http://purl.obolibrary.org/obo/DOID_409 liver disease A liver disease resulting from excessive alcohol intake. http://purl.obolibrary.org/obo/NCBITaxon_6202 Taenia http://purl.obolibrary.org/obo/NCBITaxon_6208 Taeniidae http://purl.obolibrary.org/obo/NCBITaxon_6209 Echinococcus http://purl.obolibrary.org/obo/NCBITaxon_6208 Taeniidae http://purl.obolibrary.org/obo/DOID_0070659 alpha-gal syndrome http://purl.obolibrary.org/obo/DOID_1205 allergic disease An allergic disease that is triggered by galactose-alpha-1,3-galactose (alpha-gal). Sensitization usually results from a tick bite. Symptoms most often appear 2-6 hours after eating mammalian meat but may also be triggered by mamalian-derived products. http://purl.obolibrary.org/obo/DOID_0110979 Sugarman brachydactyly http://purl.obolibrary.org/obo/DOID_0050581 brachydactyly A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. http://purl.obolibrary.org/obo/NCBITaxon_119088 Enoplea http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/DOID_0110980 Joubert syndrome 1 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0070660 Lafora disease 1 http://purl.obolibrary.org/obo/DOID_3534 Lafora disease A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24. http://purl.obolibrary.org/obo/NCBITaxon_119089 Chromadorea http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/DOID_0110981 Joubert syndrome 10 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_0070661 muscle dysmorphic disorder http://purl.obolibrary.org/obo/DOID_0060163 body dysmorphic disorder A body dysmorphic disorder characterized by a persistent belief that one’s physique is insufficiently muscular or lean, even when having a normal-to-very muscular build. http://purl.obolibrary.org/obo/NCBITaxon_33256 Ascaridoidea http://purl.obolibrary.org/obo/NCBITaxon_6249 Ascaridomorpha http://purl.obolibrary.org/obo/DOID_0110982 Joubert syndrome 13 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0070662 subcutaneous panniculitis-like T-cell lymphoma http://purl.obolibrary.org/obo/DOID_0060061 primary cutaneous T-cell non-Hodgkin lymphoma A primary cutaneous T-cell non-Hodgkin lymphoma characterized by infiltration of subcutaneous tissue by neoplastic alpha-beta cytotoxic T cells mimicking panniculitis. Homozygous or compound heterozygous mutation in the HAVCR2 gene may contribute to development of this disease, with some evidence of incomplete penetrance. http://purl.obolibrary.org/obo/NCBITaxon_6268 Anisakis http://purl.obolibrary.org/obo/NCBITaxon_6267 Anisakidae http://purl.obolibrary.org/obo/DOID_0110983 Joubert syndrome 14 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_0070663 soft tissue sarcoma http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm and starts in the soft tissues of the body (e.g. fat, muscle, nerves, blood vessels). http://purl.obolibrary.org/obo/NCBITaxon_6270 Pseudoterranova http://purl.obolibrary.org/obo/NCBITaxon_6267 Anisakidae http://purl.obolibrary.org/obo/DOID_0110984 Joubert syndrome 15 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. http://purl.obolibrary.org/obo/DOID_0110985 Joubert syndrome 16 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. http://purl.obolibrary.org/obo/DOID_0070664 oropharyngeal squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma An oropharynx cancer that derives_from squamous epithelial cells. http://purl.obolibrary.org/obo/NCBITaxon_644710 Anisakis simplex complex http://purl.obolibrary.org/obo/NCBITaxon_6268 Anisakis http://purl.obolibrary.org/obo/DOID_3972 poorly differentiated thyroid carcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma characterized by intermediate follicular cell differentiation and either high mitotic activity or tumor necrosis. http://purl.obolibrary.org/obo/DOID_0110986 Joubert syndrome 17 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. http://purl.obolibrary.org/obo/NCBITaxon_1649845 Yersinia pseudotuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_629 Yersinia http://purl.obolibrary.org/obo/DOID_60004 malignant cystadenoma http://purl.obolibrary.org/obo/DOID_0080364 malignant adenoma http://purl.obolibrary.org/obo/DOID_0110987 Joubert syndrome 18 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. http://purl.obolibrary.org/obo/NCBITaxon_455381 Capillariidae http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/SYMP_0000128 conjunctivitis http://purl.obolibrary.org/obo/SYMP_0020034 conjunctiva symptom http://purl.obolibrary.org/obo/DOID_0110988 Joubert syndrome 2 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. http://purl.obolibrary.org/obo/NCBITaxon_119093 Trichuridae http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_3151837 Elliovirales http://purl.obolibrary.org/obo/DOID_0110989 Joubert syndrome 20 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. http://purl.obolibrary.org/obo/NCBITaxon_6332 Trichinellidae http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_3151837 Elliovirales http://purl.obolibrary.org/obo/DOID_0110990 Joubert syndrome 21 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. http://purl.obolibrary.org/obo/NCBITaxon_63672 Turbo http://purl.obolibrary.org/obo/NCBITaxon_63671 Turbinidae http://purl.obolibrary.org/obo/NCBITaxon_32066 Fusobacteriota http://purl.obolibrary.org/obo/NCBITaxon_3384189 Fusobacteriati http://purl.obolibrary.org/obo/DOID_0110991 Joubert syndrome 22 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. http://purl.obolibrary.org/obo/NCBITaxon_133423 Batillus http://purl.obolibrary.org/obo/NCBITaxon_63672 Turbo http://purl.obolibrary.org/obo/CHEBI_204928 cefotaxime http://purl.obolibrary.org/obo/CHEBI_38418 1,3-thiazoles http://purl.obolibrary.org/obo/CHEBI_355510 cefotiam http://purl.obolibrary.org/obo/CHEBI_72588 semisynthetic derivative http://purl.obolibrary.org/obo/DOID_0110992 Joubert syndrome 23 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. http://purl.obolibrary.org/obo/NCBITaxon_6448 Gastropoda http://purl.obolibrary.org/obo/NCBITaxon_6447 Mollusca http://purl.obolibrary.org/obo/CHEBI_3478 cefaclor http://purl.obolibrary.org/obo/CHEBI_23066 cephalosporin http://purl.obolibrary.org/obo/DOID_0110993 Joubert syndrome 24 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/NCBITaxon_216275 Vetigastropoda http://purl.obolibrary.org/obo/NCBITaxon_6448 Gastropoda http://purl.obolibrary.org/obo/CHEBI_3508 ceftazidime http://purl.obolibrary.org/obo/CHEBI_36816 oxime O-ether http://purl.obolibrary.org/obo/DOID_0110994 Joubert syndrome 25 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. http://purl.obolibrary.org/obo/NCBITaxon_139 Borreliella burgdorferi http://purl.obolibrary.org/obo/NCBITaxon_64895 Borreliella http://purl.obolibrary.org/obo/CHEBI_472657 cefixime http://purl.obolibrary.org/obo/CHEBI_23066 cephalosporin http://purl.obolibrary.org/obo/DOID_0110995 Joubert syndrome 26 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. http://purl.obolibrary.org/obo/NCBITaxon_197563 Mandibulata http://purl.obolibrary.org/obo/NCBITaxon_6656 Arthropoda http://purl.obolibrary.org/obo/CHEBI_474859 maleic anhydride http://purl.obolibrary.org/obo/CHEBI_36609 cyclic dicarboxylic anhydride http://purl.obolibrary.org/obo/DOID_0110996 Joubert syndrome 27 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. http://purl.obolibrary.org/obo/NCBITaxon_6843 Chelicerata http://purl.obolibrary.org/obo/NCBITaxon_6656 Arthropoda http://purl.obolibrary.org/obo/DOID_0110997 Joubert syndrome 28 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. http://purl.obolibrary.org/obo/NCBITaxon_72041 Eumalacostraca http://purl.obolibrary.org/obo/NCBITaxon_6681 Malacostraca http://purl.obolibrary.org/obo/CHEBI_3515 cefuroxime http://purl.obolibrary.org/obo/CHEBI_28084 3-(carbamoyloxymethyl)cephalosporin http://purl.obolibrary.org/obo/DOID_0110998 Joubert syndrome 3 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. http://purl.obolibrary.org/obo/NCBITaxon_6684 Dendrobranchiata http://purl.obolibrary.org/obo/NCBITaxon_6683 Decapoda http://purl.obolibrary.org/obo/CHEBI_8107 phenytoin http://purl.obolibrary.org/obo/CHEBI_24628 imidazolidine-2,4-dione http://purl.obolibrary.org/obo/CHEBI_37668 terpene lactone http://purl.obolibrary.org/obo/CHEBI_26873 terpenoid http://purl.obolibrary.org/obo/DOID_0110999 Joubert syndrome 4 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. http://purl.obolibrary.org/obo/NCBITaxon_6692 Pleocyemata http://purl.obolibrary.org/obo/NCBITaxon_6683 Decapoda http://purl.obolibrary.org/obo/CHEBI_35618 aromatic ether http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/DOID_0111000 Joubert syndrome 5 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. http://purl.obolibrary.org/obo/NCBITaxon_111520 Penaeoidea http://purl.obolibrary.org/obo/NCBITaxon_6684 Dendrobranchiata http://purl.obolibrary.org/obo/CHEBI_17522 alditol http://purl.obolibrary.org/obo/CHEBI_16646 carbohydrate http://purl.obolibrary.org/obo/DOID_0111001 Joubert syndrome 6 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/NCBITaxon_6685 Penaeidae http://purl.obolibrary.org/obo/CHEBI_36709 aminoquinoline http://purl.obolibrary.org/obo/CHEBI_33860 aromatic amine http://purl.obolibrary.org/obo/DOID_0111002 Joubert syndrome 7 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. http://purl.obolibrary.org/obo/DOID_0111003 Joubert syndrome 8 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. http://purl.obolibrary.org/obo/NCBITaxon_6752 Brachyura http://purl.obolibrary.org/obo/NCBITaxon_6692 Pleocyemata http://purl.obolibrary.org/obo/CHEBI_167099 benzo[d]isothiazol-3-one http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compound http://purl.obolibrary.org/obo/DOID_0111004 Joubert syndrome 9 http://purl.obolibrary.org/obo/DOID_0050777 Joubert syndrome A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. http://purl.obolibrary.org/obo/NCBITaxon_116704 Eubrachyura http://purl.obolibrary.org/obo/NCBITaxon_6752 Brachyura http://purl.obolibrary.org/obo/CHEBI_35875 imidazopyrimidine http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/DOID_0111005 cone-rod dystrophy 2 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. http://purl.obolibrary.org/obo/NCBITaxon_85552 Scylla paramamosain http://purl.obolibrary.org/obo/NCBITaxon_6760 Scylla http://purl.obolibrary.org/obo/CHEBI_35358 sulfonamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/CHEBI_50492 thiocarbonyl compound http://purl.obolibrary.org/obo/CHEBI_33261 organosulfur compound http://purl.obolibrary.org/obo/CHEBI_16385 organic sulfide http://purl.obolibrary.org/obo/CHEBI_26822 sulfide http://purl.obolibrary.org/obo/NCBITaxon_6757 Portunidae http://purl.obolibrary.org/obo/NCBITaxon_6774 Portunoidea http://purl.obolibrary.org/obo/NCBITaxon_6854 Arachnida http://purl.obolibrary.org/obo/NCBITaxon_6843 Chelicerata http://purl.obolibrary.org/obo/CHEBI_33853 phenols http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/DOID_0111006 X-linked cone-rod dystrophy 2 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. http://purl.obolibrary.org/obo/NCBITaxon_6933 Acari http://purl.obolibrary.org/obo/NCBITaxon_6854 Arachnida http://purl.obolibrary.org/obo/DOID_0111007 X-linked cone-rod dystrophy 3 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. http://purl.obolibrary.org/obo/NCBITaxon_29189 Ammonia http://purl.obolibrary.org/obo/NCBITaxon_69034 Rotaliidae http://purl.obolibrary.org/obo/CHEBI_38831 2-benzofurans http://purl.obolibrary.org/obo/CHEBI_35259 benzofurans http://purl.obolibrary.org/obo/DOID_0111008 X-linked cone-rod dystrophy 1 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. http://purl.obolibrary.org/obo/NCBITaxon_6934 Parasitiformes http://purl.obolibrary.org/obo/NCBITaxon_6933 Acari http://purl.obolibrary.org/obo/CHEBI_34718 1-chloro-2,4-dinitrobenzene http://purl.obolibrary.org/obo/CHEBI_83403 monochlorobenzenes http://purl.obolibrary.org/obo/DOID_0111009 cone-rod dystrophy 1 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. http://purl.obolibrary.org/obo/NCBITaxon_6946 Acariformes http://purl.obolibrary.org/obo/NCBITaxon_6933 Acari http://purl.obolibrary.org/obo/NCBITaxon_6935 Ixodida http://purl.obolibrary.org/obo/NCBITaxon_6934 Parasitiformes http://purl.obolibrary.org/obo/CHEBI_53050 trimellitic anhydride http://purl.obolibrary.org/obo/CHEBI_38831 2-benzofurans http://purl.obolibrary.org/obo/CHEBI_36605 phthalic anhydride http://purl.obolibrary.org/obo/CHEBI_38831 2-benzofurans http://purl.obolibrary.org/obo/DOID_0111010 cone-rod dystrophy 5 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. http://purl.obolibrary.org/obo/NCBITaxon_297308 Ixodoidea http://purl.obolibrary.org/obo/NCBITaxon_6935 Ixodida http://purl.obolibrary.org/obo/CHEBI_24995 lactam http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/DOID_0111011 cone-rod dystrophy 6 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/NCBITaxon_140564 Ornithodoros parkeri http://purl.obolibrary.org/obo/NCBITaxon_6937 Ornithodoros http://purl.obolibrary.org/obo/DOID_0111012 cone-rod dystrophy 7 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13. http://purl.obolibrary.org/obo/CHEBI_26151 piperidines http://purl.obolibrary.org/obo/CHEBI_25693 organic heteromonocyclic compound http://purl.obolibrary.org/obo/NCBITaxon_69826 Ornithodoros savignyi http://purl.obolibrary.org/obo/NCBITaxon_6937 Ornithodoros http://purl.obolibrary.org/obo/CHEBI_26421 pyridines http://purl.obolibrary.org/obo/CHEBI_25693 organic heteromonocyclic compound http://purl.obolibrary.org/obo/DOID_0111013 cone-rod dystrophy 3 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. http://purl.obolibrary.org/obo/NCBITaxon_693766 Anemiaceae http://purl.obolibrary.org/obo/NCBITaxon_693762 Schizaeales http://purl.obolibrary.org/obo/DOID_0111014 cone-rod dystrophy 8 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. http://purl.obolibrary.org/obo/DOID_0111015 Newfoundland cone-rod dystrophy http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. http://purl.obolibrary.org/obo/CHEBI_50893 azaarene http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/NCBITaxon_426438 Hyalomminae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/DOID_0111016 cone-rod dystrophy 13 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/CHEBI_26961 thiophenes http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/NCBITaxon_426439 Haemaphysalinae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/DOID_0111017 cone-rod dystrophy 10 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. http://purl.obolibrary.org/obo/CHEBI_48901 thiazoles http://purl.obolibrary.org/obo/CHEBI_68452 azole http://purl.obolibrary.org/obo/NCBITaxon_426441 Amblyomminae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/DOID_0111018 cone-rod dystrophy 11 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_0111019 cone-rod dystrophy 12 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. http://purl.obolibrary.org/obo/CHEBI_46770 pyrrolidinecarboxamide http://purl.obolibrary.org/obo/CHEBI_29347 monocarboxylic acid amide http://purl.obolibrary.org/obo/NCBITaxon_426442 Ixodinae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/DOID_0111020 cone-rod dystrophy 9 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. http://purl.obolibrary.org/obo/CHEBI_55370 imidazolidinone http://purl.obolibrary.org/obo/CHEBI_38261 imidazolidines http://purl.obolibrary.org/obo/NCBITaxon_2509494 Merbecovirus http://purl.obolibrary.org/obo/NCBITaxon_694002 Betacoronavirus http://purl.obolibrary.org/obo/CHEBI_161680 aztreonam http://purl.obolibrary.org/obo/CHEBI_88225 beta-lactam antibiotic allergen http://purl.obolibrary.org/obo/DOID_0111021 cone-rod dystrophy 15 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. http://purl.obolibrary.org/obo/NCBITaxon_2509511 Sarbecovirus http://purl.obolibrary.org/obo/NCBITaxon_694002 Betacoronavirus http://purl.obolibrary.org/obo/CHEBI_138412 N,N'-diphenylthiourea http://purl.obolibrary.org/obo/CHEBI_51276 thioureas http://purl.obolibrary.org/obo/NCBITaxon_2901879 Severe acute respiratory syndrome coronavirus http://purl.obolibrary.org/obo/NCBITaxon_694009 Severe acute respiratory syndrome-related coronavirus http://purl.obolibrary.org/obo/DOID_0111022 cone-rod dystrophy 16 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/NCBITaxon_34607 Amblyomma cajennense http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/DOID_0111023 cone-rod dystrophy 17 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/NCBITaxon_34608 Amblyomma hebraeum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/DOID_0111024 cone-rod dystrophy 18 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. http://purl.obolibrary.org/obo/CHEBI_88187 penicillin allergen http://purl.obolibrary.org/obo/CHEBI_17334 penicillin http://purl.obolibrary.org/obo/NCBITaxon_34609 Amblyomma maculatum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/DOID_0111025 cone-rod dystrophy 19 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. http://purl.obolibrary.org/obo/CHEBI_8232 piperacillin http://purl.obolibrary.org/obo/CHEBI_88187 penicillin allergen http://purl.obolibrary.org/obo/NCBITaxon_34610 Amblyomma variegatum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/DOID_0111026 cone-rod dystrophy 20 http://purl.obolibrary.org/obo/DOID_0050572 cone-rod dystrophy A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. http://purl.obolibrary.org/obo/CHEBI_48975 substituted aniline http://purl.obolibrary.org/obo/CHEBI_22562 anilines http://purl.obolibrary.org/obo/NCBITaxon_6943 Amblyomma americanum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/DOID_0111027 hemochromatosis type 2A http://purl.obolibrary.org/obo/DOID_0111034 hemochromatosis type 2 A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/NCBITaxon_83136 Trombidiformes http://purl.obolibrary.org/obo/NCBITaxon_6946 Acariformes http://purl.obolibrary.org/obo/DOID_0111028 hemochromatosis type 4 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_25367 molecule http://purl.obolibrary.org/obo/NCBITaxon_83138 Anystina http://purl.obolibrary.org/obo/NCBITaxon_6947 Prostigmata http://purl.obolibrary.org/obo/DOID_0111029 hemochromatosis type 1 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. http://purl.obolibrary.org/obo/CHEBI_53444 potassium dichromate http://purl.obolibrary.org/obo/CHEBI_26218 potassium salt http://purl.obolibrary.org/obo/NCBITaxon_784 Orientia tsutsugamushi http://purl.obolibrary.org/obo/NCBITaxon_69474 Orientia http://purl.obolibrary.org/obo/DOID_0111030 hemochromatosis type 3 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/NCBITaxon_50557 Insecta http://purl.obolibrary.org/obo/NCBITaxon_6960 Hexapoda http://purl.obolibrary.org/obo/DOID_0111031 hemochromatosis type 5 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. http://purl.obolibrary.org/obo/CHEBI_8884 rocuronium http://purl.obolibrary.org/obo/CHEBI_50996 tertiary amino compound http://purl.obolibrary.org/obo/NCBITaxon_713 Actinobacillus http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/DOID_0111032 hemochromatosis type 2B http://purl.obolibrary.org/obo/DOID_0111034 hemochromatosis type 2 A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. http://purl.obolibrary.org/obo/CHEBI_53731 remazole black-GR http://purl.obolibrary.org/obo/CHEBI_48960 bis(azo) compound http://purl.obolibrary.org/obo/NCBITaxon_724 Haemophilus http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/DOID_0111033 African iron overload http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/NCBITaxon_745 Pasteurella http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/DOID_0111034 hemochromatosis type 2 http://purl.obolibrary.org/obo/DOID_2352 hemochromatosis A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. http://purl.obolibrary.org/obo/NCBITaxon_3650 Cucurbitaceae http://purl.obolibrary.org/obo/NCBITaxon_71239 Cucurbitales http://purl.obolibrary.org/obo/CHEBI_32955 epoxide http://purl.obolibrary.org/obo/CHEBI_37407 cyclic ether http://purl.obolibrary.org/obo/DOID_0111035 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 http://purl.obolibrary.org/obo/DOID_13945 CADASIL A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/CHEBI_26979 organic heterotricyclic compound http://purl.obolibrary.org/obo/CHEBI_36688 heterotricyclic compound http://purl.obolibrary.org/obo/NCBITaxon_91827 Gunneridae http://purl.obolibrary.org/obo/NCBITaxon_71240 eudicotyledons http://purl.obolibrary.org/obo/DOID_0111036 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 http://purl.obolibrary.org/obo/DOID_13945 CADASIL A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. http://purl.obolibrary.org/obo/CHEBI_140310 phenyl acetates http://purl.obolibrary.org/obo/CHEBI_22712 benzenes http://purl.obolibrary.org/obo/NCBITaxon_91888 lamiids http://purl.obolibrary.org/obo/NCBITaxon_71274 asterids http://purl.obolibrary.org/obo/DOID_0111037 glycine N-methyltransferase deficiency http://purl.obolibrary.org/obo/DOID_0050544 hypermethioninemia A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/NCBITaxon_71275 rosids http://purl.obolibrary.org/obo/NCBITaxon_91836 malvids http://purl.obolibrary.org/obo/NCBITaxon_71275 rosids http://purl.obolibrary.org/obo/CHEBI_31635 neomycin sulfate http://purl.obolibrary.org/obo/CHEBI_60004 mixture http://purl.obolibrary.org/obo/DOID_0111038 hypermethioninemia due to adenosine kinase deficiency http://purl.obolibrary.org/obo/DOID_0050544 hypermethioninemia A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. http://purl.obolibrary.org/obo/NCBITaxon_7148 Nematocera http://purl.obolibrary.org/obo/NCBITaxon_7147 Diptera http://purl.obolibrary.org/obo/CHEBI_5516 sodium aurothiomalate http://purl.obolibrary.org/obo/CHEBI_60004 mixture http://purl.obolibrary.org/obo/DOID_0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase http://purl.obolibrary.org/obo/DOID_0050544 hypermethioninemia A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. http://purl.obolibrary.org/obo/NCBITaxon_7203 Brachycera http://purl.obolibrary.org/obo/NCBITaxon_7147 Diptera http://purl.obolibrary.org/obo/CHEBI_22925 bromide salt http://purl.obolibrary.org/obo/CHEBI_33958 halide salt http://purl.obolibrary.org/obo/DOID_0111040 glycogen storage disease IXd http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. http://purl.obolibrary.org/obo/NCBITaxon_43786 Culicomorpha http://purl.obolibrary.org/obo/NCBITaxon_7148 Nematocera http://purl.obolibrary.org/obo/CHEBI_23697 dichlorobenzene http://purl.obolibrary.org/obo/CHEBI_23132 chlorobenzenes http://purl.obolibrary.org/obo/NCBITaxon_43787 Psychodomorpha http://purl.obolibrary.org/obo/NCBITaxon_7148 Nematocera http://purl.obolibrary.org/obo/CHEBI_26888 tetrachlorobenzene http://purl.obolibrary.org/obo/CHEBI_23132 chlorobenzenes http://purl.obolibrary.org/obo/DOID_0111041 glycogen storage disease IXb http://purl.obolibrary.org/obo/DOID_0050594 glycogen storage disease IX A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. http://purl.obolibrary.org/obo/DOID_0111042 glycogen storage disease IXa1 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. http://purl.obolibrary.org/obo/CHEBI_83403 monochlorobenzenes http://purl.obolibrary.org/obo/CHEBI_23132 chlorobenzenes http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/NCBITaxon_715340 Pleosporineae http://purl.obolibrary.org/obo/DOID_0111043 glycogen storage disease IXc http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. http://purl.obolibrary.org/obo/NCBITaxon_43816 Anophelinae http://purl.obolibrary.org/obo/NCBITaxon_7157 Culicidae http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity http://purl.obolibrary.org/obo/DOID_0111044 gray platelet syndrome http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/NCBITaxon_7157 Culicidae http://purl.obolibrary.org/obo/CHEBI_59999 chemical substance http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://purl.obolibrary.org/obo/DOID_0111045 platelet-type bleeding disorder 9 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/NCBITaxon_147541 Dothideomycetes http://purl.obolibrary.org/obo/NCBITaxon_715962 dothideomyceta http://purl.obolibrary.org/obo/CHEBI_23117 chlorine molecular entity http://purl.obolibrary.org/obo/CHEBI_24471 halogen molecular entity http://purl.obolibrary.org/obo/DOID_0111046 platelet-type bleeding disorder 10 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. http://purl.obolibrary.org/obo/CHEBI_37578 halide http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/NCBITaxon_147550 Sordariomycetes http://purl.obolibrary.org/obo/NCBITaxon_715989 sordariomyceta http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/DOID_0111047 platelet-type bleeding disorder 14 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/CHEBI_38104 oxacycle http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/DOID_0111048 platelet-type bleeding disorder 19 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. http://purl.obolibrary.org/obo/NCBITaxon_147538 Pezizomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_24868 organic salt http://purl.obolibrary.org/obo/CHEBI_24866 salt http://purl.obolibrary.org/obo/NCBITaxon_147545 Eurotiomycetes http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/DOID_0111049 platelet-type bleeding disorder 17 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_0111050 Quebec platelet disorder http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. http://purl.obolibrary.org/obo/CHEBI_35479 alkali metal salt http://purl.obolibrary.org/obo/CHEBI_33296 alkali metal molecular entity http://purl.obolibrary.org/obo/NCBITaxon_715962 dothideomyceta http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/DOID_0111051 platelet-type bleeding disorder 18 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/CHEBI_36389 saturated organic heteromonocyclic parent http://purl.obolibrary.org/obo/CHEBI_36388 saturated organic heterocyclic parent http://purl.obolibrary.org/obo/NCBITaxon_715989 sordariomyceta http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/DOID_0111052 Scott syndrome http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. http://purl.obolibrary.org/obo/CHEBI_25697 organic cation http://purl.obolibrary.org/obo/CHEBI_36916 cation http://purl.obolibrary.org/obo/NCBITaxon_7198 Phlebotominae http://purl.obolibrary.org/obo/NCBITaxon_7197 Psychodidae http://purl.obolibrary.org/obo/DOID_0111053 platelet-type bleeding disorder 15 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/CHEBI_36962 organochalcogen compound http://purl.obolibrary.org/obo/NCBITaxon_13203 Phlebotomus http://purl.obolibrary.org/obo/NCBITaxon_7198 Phlebotominae http://purl.obolibrary.org/obo/DOID_0111054 von Willebrand's disease 3 http://purl.obolibrary.org/obo/DOID_12531 von Willebrand's disease A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. http://purl.obolibrary.org/obo/CHEBI_38700 organic sodium salt http://purl.obolibrary.org/obo/CHEBI_24868 organic salt http://purl.obolibrary.org/obo/CHEBI_26658 sesquiterpenoid http://purl.obolibrary.org/obo/CHEBI_26873 terpenoid http://purl.obolibrary.org/obo/NCBITaxon_43733 Muscomorpha http://purl.obolibrary.org/obo/NCBITaxon_7203 Brachycera http://purl.obolibrary.org/obo/DOID_0111055 platelet-type bleeding disorder 20 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/CHEBI_32988 amide http://purl.obolibrary.org/obo/NCBITaxon_43735 Tabanomorpha http://purl.obolibrary.org/obo/NCBITaxon_7203 Brachycera http://purl.obolibrary.org/obo/NCBITaxon_3701045 Stomatocarida http://purl.obolibrary.org/obo/NCBITaxon_72041 Eumalacostraca http://purl.obolibrary.org/obo/DOID_0111056 platelet-type bleeding disorder 3 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/NCBITaxon_43920 Chrysopsinae http://purl.obolibrary.org/obo/NCBITaxon_7205 Tabanidae http://purl.obolibrary.org/obo/CHEBI_35507 natural product fundamental parent http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent http://purl.obolibrary.org/obo/DOID_0111057 platelet-type bleeding disorder 11 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. http://purl.obolibrary.org/obo/NCBITaxon_157914 Ziziphus mauritiana http://purl.obolibrary.org/obo/NCBITaxon_72171 Ziziphus http://purl.obolibrary.org/obo/CHEBI_35552 heterocyclic organic fundamental parent http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/NCBITaxon_721805 Amygdaleae http://purl.obolibrary.org/obo/DOID_0111058 platelet-type bleeding disorder 12 http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. http://purl.obolibrary.org/obo/DOID_0111059 Bernard-Soulier syndrome type A2 http://purl.obolibrary.org/obo/DOID_2217 Bernard-Soulier syndrome A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity http://purl.obolibrary.org/obo/NCBITaxon_3749 Malus http://purl.obolibrary.org/obo/NCBITaxon_721813 Maleae http://purl.obolibrary.org/obo/NCBITaxon_34064 Francisellaceae http://purl.obolibrary.org/obo/NCBITaxon_72273 Thiotrichales http://purl.obolibrary.org/obo/DOID_0111060 Ambras type hypertrichosis universalis congenita http://purl.obolibrary.org/obo/DOID_420 hypertrichosis A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. http://purl.obolibrary.org/obo/CHEBI_86494 botanical anti-fungal agent http://purl.obolibrary.org/obo/CHEBI_33285 heteroorganic entity http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/NCBITaxon_194 Campylobacter http://purl.obolibrary.org/obo/NCBITaxon_72294 Campylobacteraceae http://purl.obolibrary.org/obo/DOID_0111061 familial hypobetalipoproteinemia 2 http://purl.obolibrary.org/obo/DOID_1390 hypobetalipoproteinemia A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/NCBITaxon_730 [Haemophilus] ducreyi http://purl.obolibrary.org/obo/NCBITaxon_724 Haemophilus http://purl.obolibrary.org/obo/DOID_0111062 familial hypobetalipoproteinemia 1 http://purl.obolibrary.org/obo/DOID_1390 hypobetalipoproteinemia A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/NCBITaxon_747 Pasteurella multocida http://purl.obolibrary.org/obo/NCBITaxon_745 Pasteurella http://purl.obolibrary.org/obo/DOID_0111063 hyperphosphatemic familial tumoral calcinosis http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CHEBI_33521 metal atom http://purl.obolibrary.org/obo/NCBITaxon_33340 Neoptera http://purl.obolibrary.org/obo/NCBITaxon_7496 Pterygota http://purl.obolibrary.org/obo/DOID_0111064 autosomal recessive distal hereditary motor neuronopathy 1 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/CHEBI_33521 metal atom http://purl.obolibrary.org/obo/NCBITaxon_140693 Pulicomorpha http://purl.obolibrary.org/obo/NCBITaxon_7509 Siphonaptera http://purl.obolibrary.org/obo/NCBITaxon_476427 Xenopsyllinae http://purl.obolibrary.org/obo/NCBITaxon_7511 Pulicidae http://purl.obolibrary.org/obo/DOID_0111065 autosomal recessive distal hereditary motor neuronopathy 2 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/CHEBI_33582 carbon group molecular entity http://purl.obolibrary.org/obo/NCBITaxon_423054 Eimeriorina http://purl.obolibrary.org/obo/NCBITaxon_75739 Eucoccidiorida http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/DOID_0111066 congenital bile acid synthesis defect 5 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. http://purl.obolibrary.org/obo/NCBITaxon_775 Rickettsiaceae http://purl.obolibrary.org/obo/NCBITaxon_766 Rickettsiales http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/CHEBI_51958 organic polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/DOID_0111067 congenital bile acid synthesis defect 6 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. http://purl.obolibrary.org/obo/NCBITaxon_942 Anaplasmataceae http://purl.obolibrary.org/obo/NCBITaxon_766 Rickettsiales http://purl.obolibrary.org/obo/NCBITaxon_106179 phagocytophilum group http://purl.obolibrary.org/obo/NCBITaxon_768 Anaplasma http://purl.obolibrary.org/obo/CHEBI_51402 phenylenediamine http://purl.obolibrary.org/obo/CHEBI_33860 aromatic amine http://purl.obolibrary.org/obo/DOID_0111068 congenital bile acid synthesis defect 4 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. http://purl.obolibrary.org/obo/NCBITaxon_2499399 Cornidovirineae http://purl.obolibrary.org/obo/NCBITaxon_76804 Nidovirales http://purl.obolibrary.org/obo/CHEBI_25865 penicillanic acids http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/DOID_0111069 congenital bile acid synthesis defect 2 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. http://purl.obolibrary.org/obo/DOID_0111070 congenital bile acid synthesis defect 3 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. http://purl.obolibrary.org/obo/CHEBI_48960 bis(azo) compound http://purl.obolibrary.org/obo/CHEBI_37533 azo compound http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/DOID_0111071 congenital bile acid synthesis defect 1 http://purl.obolibrary.org/obo/DOID_0050674 congenital bile acid synthesis defect A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. http://purl.obolibrary.org/obo/CHEBI_22682 azobenzenes http://purl.obolibrary.org/obo/CHEBI_22712 benzenes http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/NCBITaxon_772 Bartonellaceae http://purl.obolibrary.org/obo/NCBITaxon_38323 Bartonella henselae http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/DOID_0111072 myostatin-related muscle hypertrophy http://purl.obolibrary.org/obo/DOID_66 muscle tissue disease A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/CHEBI_33241 oxoacid derivative http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/NCBITaxon_56426 Bartonella clarridgeiae http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. http://purl.obolibrary.org/obo/CHEBI_35274 ammonium ion derivative http://purl.obolibrary.org/obo/CHEBI_33702 polyatomic cation http://purl.obolibrary.org/obo/NCBITaxon_774 Bartonella bacilliformis http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/DOID_0111074 progressive familial heart block type IA http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. http://purl.obolibrary.org/obo/CHEBI_35790 oxazole http://purl.obolibrary.org/obo/CHEBI_38104 oxacycle http://purl.obolibrary.org/obo/CHEBI_84144 L-phenylalanine derivative http://purl.obolibrary.org/obo/CHEBI_25985 phenylalanine derivative http://purl.obolibrary.org/obo/NCBITaxon_803 Bartonella quintana http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/DOID_0111075 progressive familial heart block type II http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. http://purl.obolibrary.org/obo/CHEBI_83925 non-proteinogenic alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/DOID_0111076 progressive familial heart block type IB http://purl.obolibrary.org/obo/DOID_0111073 progressive familial heart block A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. http://purl.obolibrary.org/obo/CHEBI_39447 pyrimidines http://purl.obolibrary.org/obo/CHEBI_38313 diazines http://purl.obolibrary.org/obo/NCBITaxon_33988 Rickettsieae http://purl.obolibrary.org/obo/NCBITaxon_775 Rickettsiaceae http://purl.obolibrary.org/obo/DOID_0111077 congenital nonspherocytic hemolytic anemia 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. http://purl.obolibrary.org/obo/CHEBI_38785 morpholines http://purl.obolibrary.org/obo/CHEBI_46952 oxazinane http://purl.obolibrary.org/obo/NCBITaxon_777 Coxiella burnetii http://purl.obolibrary.org/obo/NCBITaxon_776 Coxiella http://purl.obolibrary.org/obo/DOID_0111078 tibial muscular dystrophy http://purl.obolibrary.org/obo/DOID_11720 distal myopathy A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. http://purl.obolibrary.org/obo/DOID_0111079 birdshot chorioretinopathy http://purl.obolibrary.org/obo/DOID_12574 posterior uveitis A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. http://purl.obolibrary.org/obo/HP_0008665 Clitoral hypertrophy http://purl.obolibrary.org/obo/HP_0040253 Increased size of the clitoris http://purl.obolibrary.org/obo/NCBITaxon_160 Treponema pallidum http://purl.obolibrary.org/obo/NCBITaxon_157 Treponema http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/DOID_0111080 Fanconi anemia complementation group V http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. http://purl.obolibrary.org/obo/NCBITaxon_6181 Schistosoma http://purl.obolibrary.org/obo/NCBITaxon_31245 Schistosomatidae http://purl.obolibrary.org/obo/DOID_0111081 Fanconi anemia complementation group T http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. http://purl.obolibrary.org/obo/NCBITaxon_241806 Polypodiopsida http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_63405 Microsporum canis http://purl.obolibrary.org/obo/NCBITaxon_34392 Microsporum http://purl.obolibrary.org/obo/DOID_0111082 Fanconi anemia complementation group L http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_43075 Trichomonas tenax http://purl.obolibrary.org/obo/NCBITaxon_5721 Trichomonas http://purl.obolibrary.org/obo/DOID_0111083 Fanconi anemia complementation group D2 http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_5722 Trichomonas vaginalis http://purl.obolibrary.org/obo/NCBITaxon_5721 Trichomonas http://purl.obolibrary.org/obo/DOID_0111084 Fanconi anemia complementation group E http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. http://purl.obolibrary.org/obo/NCBITaxon_30727 Cyprinoidei http://purl.obolibrary.org/obo/NCBITaxon_7952 Cypriniformes http://purl.obolibrary.org/obo/NCBITaxon_666 Vibrio cholerae http://purl.obolibrary.org/obo/NCBITaxon_662 Vibrio http://purl.obolibrary.org/obo/DOID_0111085 Fanconi anemia complementation group U http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. http://purl.obolibrary.org/obo/NCBITaxon_2743694 Cyprininae http://purl.obolibrary.org/obo/NCBITaxon_7953 Cyprinidae http://purl.obolibrary.org/obo/NCBITaxon_5758 Entamoeba http://purl.obolibrary.org/obo/NCBITaxon_33084 Entamoebidae http://purl.obolibrary.org/obo/NCBITaxon_5500 Coccidioides http://purl.obolibrary.org/obo/NCBITaxon_33184 Onygenaceae http://purl.obolibrary.org/obo/DOID_0111086 Fanconi anemia complementation group G http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. http://purl.obolibrary.org/obo/NCBITaxon_7955 Danio rerio http://purl.obolibrary.org/obo/NCBITaxon_7954 Danio http://purl.obolibrary.org/obo/NCBITaxon_7962 Cyprinus carpio http://purl.obolibrary.org/obo/NCBITaxon_7961 Cyprinus http://purl.obolibrary.org/obo/NCBITaxon_6282 Onchocerca volvulus http://purl.obolibrary.org/obo/NCBITaxon_6281 Onchocerca http://purl.obolibrary.org/obo/DOID_0111087 Fanconi anemia complementation group C http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. http://purl.obolibrary.org/obo/NCBITaxon_8015 Salmonidae http://purl.obolibrary.org/obo/NCBITaxon_8006 Salmoniformes http://purl.obolibrary.org/obo/NCBITaxon_116925 Troglotremata http://purl.obolibrary.org/obo/NCBITaxon_27871 Plagiorchiida http://purl.obolibrary.org/obo/DOID_0111088 Fanconi anemia complementation group F http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. http://purl.obolibrary.org/obo/NCBITaxon_504568 Salmoninae http://purl.obolibrary.org/obo/NCBITaxon_8015 Salmonidae http://purl.obolibrary.org/obo/DOID_0111089 Fanconi anemia complementation group D1 http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. http://purl.obolibrary.org/obo/DOID_0111090 Fanconi anemia complementation group R http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_0111091 Fanconi anemia complementation group I http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. http://purl.obolibrary.org/obo/NCBITaxon_12721 Human immunodeficiency virus http://purl.obolibrary.org/obo/NCBITaxon_348386 unclassified Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_8022 Oncorhynchus mykiss http://purl.obolibrary.org/obo/NCBITaxon_8016 Oncorhynchus http://purl.obolibrary.org/obo/DOID_0111092 Fanconi anemia complementation group P http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/NCBITaxon_99737 Echinostomatidae http://purl.obolibrary.org/obo/NCBITaxon_404429 Echinostomatoidea http://purl.obolibrary.org/obo/NCBITaxon_8030 Salmo salar http://purl.obolibrary.org/obo/NCBITaxon_8028 Salmo http://purl.obolibrary.org/obo/DOID_0111093 Fanconi anemia complementation group Q http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. http://purl.obolibrary.org/obo/NCBITaxon_5693 Trypanosoma cruzi http://purl.obolibrary.org/obo/NCBITaxon_47570 Schizotrypanum http://purl.obolibrary.org/obo/NCBITaxon_1489845 Gadoidei http://purl.obolibrary.org/obo/NCBITaxon_8043 Gadiformes http://purl.obolibrary.org/obo/DOID_0111094 Fanconi anemia complementation group N http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. http://purl.obolibrary.org/obo/NCBITaxon_6196 Opisthorchiidae http://purl.obolibrary.org/obo/NCBITaxon_6194 Opisthorchiata http://purl.obolibrary.org/obo/NCBITaxon_8048 Gadus http://purl.obolibrary.org/obo/NCBITaxon_8045 Gadidae http://purl.obolibrary.org/obo/NCBITaxon_8049 Gadus morhua http://purl.obolibrary.org/obo/NCBITaxon_8048 Gadus http://purl.obolibrary.org/obo/NCBITaxon_2082223 Panagrolaimomorpha http://purl.obolibrary.org/obo/NCBITaxon_6300 Tylenchina http://purl.obolibrary.org/obo/NCBITaxon_5738 Diplomonadida http://purl.obolibrary.org/obo/NCBITaxon_207245 Fornicata http://purl.obolibrary.org/obo/DOID_0111095 Fanconi anemia complementation group A http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. http://purl.obolibrary.org/obo/NCBITaxon_119060 Burkholderiaceae http://purl.obolibrary.org/obo/NCBITaxon_80840 Burkholderiales http://purl.obolibrary.org/obo/NCBITaxon_29169 Ancylostoma http://purl.obolibrary.org/obo/NCBITaxon_53469 Ancylostomatinae http://purl.obolibrary.org/obo/DOID_0111096 Fanconi anemia complementation group O http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. http://purl.obolibrary.org/obo/NCBITaxon_506 Alcaligenaceae http://purl.obolibrary.org/obo/NCBITaxon_80840 Burkholderiales http://purl.obolibrary.org/obo/NCBITaxon_68459 Giardiinae http://purl.obolibrary.org/obo/NCBITaxon_5739 Hexamitidae http://purl.obolibrary.org/obo/DOID_0111097 Fanconi anemia complementation group J http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. http://purl.obolibrary.org/obo/NCBITaxon_6251 Ascaris http://purl.obolibrary.org/obo/NCBITaxon_6250 Ascarididae http://purl.obolibrary.org/obo/NCBITaxon_1113537 Chlamydia/Chlamydophila group http://purl.obolibrary.org/obo/NCBITaxon_809 Chlamydiaceae http://purl.obolibrary.org/obo/NCBITaxon_329110 Coquillettidia http://purl.obolibrary.org/obo/NCBITaxon_254792 Mansoniini http://purl.obolibrary.org/obo/DOID_0111098 Fanconi anemia complementation group B http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. http://purl.obolibrary.org/obo/NCBITaxon_813 Chlamydia trachomatis http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/NCBITaxon_83558 Chlamydia pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/NCBITaxon_83554 Chlamydia psittaci http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/NCBITaxon_6191 Fasciola http://purl.obolibrary.org/obo/NCBITaxon_27843 Fasciolidae http://purl.obolibrary.org/obo/NCBITaxon_6180 Strigeidida http://purl.obolibrary.org/obo/NCBITaxon_6179 Digenea http://purl.obolibrary.org/obo/DOID_0111099 maturity-onset diabetes of the young type 1 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. http://purl.obolibrary.org/obo/DOID_0111100 maturity-onset diabetes of the young type 2 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. http://purl.obolibrary.org/obo/NCBITaxon_89940 Cladophialophora bantiana http://purl.obolibrary.org/obo/NCBITaxon_82105 Cladophialophora http://purl.obolibrary.org/obo/NCBITaxon_6295 Filarioidea http://purl.obolibrary.org/obo/NCBITaxon_2072716 Spiruromorpha http://purl.obolibrary.org/obo/HP_0002113 Pulmonary infiltrates http://purl.obolibrary.org/obo/HP_0031983 Abnormal pulmonary thoracic imaging finding http://purl.obolibrary.org/obo/DOID_0111101 renal cysts and diabetes syndrome http://purl.obolibrary.org/obo/DOID_0060062 autosomal dominant tubulointerstitial kidney disease A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. http://purl.obolibrary.org/obo/NCBITaxon_86049 Cladophialophora carrionii http://purl.obolibrary.org/obo/NCBITaxon_82105 Cladophialophora http://purl.obolibrary.org/obo/DOID_13269 hereditary coproporphyria http://purl.obolibrary.org/obo/DOID_3133 acute porphyria http://purl.obolibrary.org/obo/DOID_0111102 maturity-onset diabetes of the young type 3 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/NCBITaxon_6947 Prostigmata http://purl.obolibrary.org/obo/NCBITaxon_83136 Trombidiformes http://purl.obolibrary.org/obo/DOID_0111103 maturity-onset diabetes of the young type 4 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. http://purl.obolibrary.org/obo/DOID_0111104 maturity-onset diabetes of the young type 6 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. http://purl.obolibrary.org/obo/NCBITaxon_2732397 Pararnavirae http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/NCBITaxon_83141 Parasitengona http://purl.obolibrary.org/obo/NCBITaxon_83138 Anystina http://purl.obolibrary.org/obo/DOID_0111105 maturity-onset diabetes of the young type 8 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. http://purl.obolibrary.org/obo/NCBITaxon_216285 Trochoidea http://purl.obolibrary.org/obo/NCBITaxon_2315720 Trochida http://purl.obolibrary.org/obo/NCBITaxon_92088 Trombiculoidea http://purl.obolibrary.org/obo/NCBITaxon_83141 Parasitengona http://purl.obolibrary.org/obo/DOID_0111106 maturity-onset diabetes of the young type 7 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. http://purl.obolibrary.org/obo/NCBITaxon_27829 Strongyloidea http://purl.obolibrary.org/obo/NCBITaxon_2301119 Rhabditomorpha http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_29178 Foraminifera http://purl.obolibrary.org/obo/NCBITaxon_2662056 Retaria http://purl.obolibrary.org/obo/DOID_0111107 maturity-onset diabetes of the young type 9 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. http://purl.obolibrary.org/obo/NCBITaxon_5719 Parabasalia http://purl.obolibrary.org/obo/NCBITaxon_2611341 Metamonada http://purl.obolibrary.org/obo/NCBITaxon_1653 Corynebacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/NCBITaxon_85025 Nocardiaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/NCBITaxon_10911 Coltivirus http://purl.obolibrary.org/obo/NCBITaxon_2946187 Spinareoviridae http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/NCBITaxon_2946630 Ensavirinae http://purl.obolibrary.org/obo/DOID_0111108 maturity-onset diabetes of the young type 10 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/NCBITaxon_12091 Hepatovirus http://purl.obolibrary.org/obo/NCBITaxon_2946633 Heptrevirinae http://purl.obolibrary.org/obo/NCBITaxon_31957 Propionibacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85009 Propionibacteriales http://purl.obolibrary.org/obo/NCBITaxon_1809 Mycobacterium ulcerans http://purl.obolibrary.org/obo/NCBITaxon_2993898 Mycobacterium ulcerans group http://purl.obolibrary.org/obo/DOID_0111109 maturity-onset diabetes of the young type 11 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. http://purl.obolibrary.org/obo/NCBITaxon_6760 Scylla http://purl.obolibrary.org/obo/NCBITaxon_600346 Portuninae http://purl.obolibrary.org/obo/NCBITaxon_1817 Nocardia http://purl.obolibrary.org/obo/NCBITaxon_85025 Nocardiaceae http://purl.obolibrary.org/obo/NCBITaxon_2104 Mycoplasmoides pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_2995234 Mycoplasmoides http://purl.obolibrary.org/obo/NCBITaxon_7496 Pterygota http://purl.obolibrary.org/obo/NCBITaxon_85512 Dicondylia http://purl.obolibrary.org/obo/DOID_0111110 maturity-onset diabetes of the young type 13 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. http://purl.obolibrary.org/obo/NCBITaxon_30005 Anoplura http://purl.obolibrary.org/obo/NCBITaxon_85819 Phthiraptera http://purl.obolibrary.org/obo/NCBITaxon_10090 Mus musculus http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/UBERON_0016410 male breast http://purl.obolibrary.org/obo/UBERON_0000310 breast http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/NCBITaxon_426437 Rhipicephalinae http://purl.obolibrary.org/obo/DOID_0111111 maturity-onset diabetes of the young type 14 http://purl.obolibrary.org/obo/DOID_0050524 maturity-onset diabetes of the young A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. http://purl.obolibrary.org/obo/NCBITaxon_34630 Rhipicephalus http://purl.obolibrary.org/obo/NCBITaxon_426437 Rhipicephalinae http://purl.obolibrary.org/obo/DOID_0111112 nephronophthisis 1 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. http://purl.obolibrary.org/obo/NCBITaxon_1392 Bacillus anthracis http://purl.obolibrary.org/obo/NCBITaxon_86661 Bacillus cereus group http://purl.obolibrary.org/obo/SYMP_0020021 abnormal wound healing http://purl.obolibrary.org/obo/SYMP_0000092 skin lesion http://purl.obolibrary.org/obo/DOID_0111113 nephronophthisis 2 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. http://purl.obolibrary.org/obo/NCBITaxon_8825 Neognathae http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/SYMP_0020028 poor wound healing http://purl.obolibrary.org/obo/SYMP_0000092 skin lesion http://purl.obolibrary.org/obo/DOID_0111114 nephronophthisis 3 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. http://purl.obolibrary.org/obo/NCBITaxon_1549675 Galloanserae http://purl.obolibrary.org/obo/NCBITaxon_8825 Neognathae http://purl.obolibrary.org/obo/HP_0033338 Abnormal female meiosis http://purl.obolibrary.org/obo/HP_0031515 Abnormal meiosis http://purl.obolibrary.org/obo/DOID_0111115 nephronophthisis 4 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. http://purl.obolibrary.org/obo/NCBITaxon_6656 Arthropoda http://purl.obolibrary.org/obo/NCBITaxon_88770 Panarthropoda http://purl.obolibrary.org/obo/DOID_0111116 nephronophthisis 7 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. http://purl.obolibrary.org/obo/HP_0034644 Abnormal liver metabolite concentration http://purl.obolibrary.org/obo/HP_0032243 Abnormal tissue metabolite concentration http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/DOID_0111117 nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. http://purl.obolibrary.org/obo/DOID_0111118 nephronophthisis 11 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/NCBITaxon_34353 Dipodascaceae http://purl.obolibrary.org/obo/NCBITaxon_3243772 Dipodascales http://purl.obolibrary.org/obo/NCBITaxon_9005 Phasianidae http://purl.obolibrary.org/obo/NCBITaxon_8976 Galliformes http://purl.obolibrary.org/obo/DOID_0111119 nephronophthisis 12 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. http://purl.obolibrary.org/obo/DOID_0111120 nephronophthisis 9 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. http://purl.obolibrary.org/obo/DOID_572 mononeuritis of upper limb and mononeuritis multiplex http://purl.obolibrary.org/obo/DOID_1802 mononeuritis http://purl.obolibrary.org/obo/NCBITaxon_12066 Coxsackievirus http://purl.obolibrary.org/obo/NCBITaxon_90010 unclassified Enterovirus http://purl.obolibrary.org/obo/DOID_0111121 nephronophthisis 13 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/DOID_1802 mononeuritis http://purl.obolibrary.org/obo/NCBITaxon_33758 Echovirus http://purl.obolibrary.org/obo/NCBITaxon_90010 unclassified Enterovirus http://purl.obolibrary.org/obo/DOID_0111122 nephronophthisis 14 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. http://purl.obolibrary.org/obo/DOID_292 lacrimal system cancer http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/NCBITaxon_9072 Phasianinae http://purl.obolibrary.org/obo/NCBITaxon_9005 Phasianidae http://purl.obolibrary.org/obo/DOID_5467 conjunctival cancer http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/DOID_0111123 nephronophthisis 15 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. http://purl.obolibrary.org/obo/NCBITaxon_9031 Gallus gallus http://purl.obolibrary.org/obo/NCBITaxon_9030 Gallus http://purl.obolibrary.org/obo/DOID_6199 cornea cancer http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_0111124 nephronophthisis 16 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_0111125 nephronophthisis 18 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. http://purl.obolibrary.org/obo/NCBITaxon_9030 Gallus http://purl.obolibrary.org/obo/NCBITaxon_9072 Phasianinae http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_746 adenomatoid tumor http://purl.obolibrary.org/obo/DOID_2645 benign mesothelioma http://purl.obolibrary.org/obo/DOID_0111126 nephronophthisis 19 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. http://purl.obolibrary.org/obo/NCBITaxon_1279 Staphylococcus http://purl.obolibrary.org/obo/NCBITaxon_90964 Staphylococcaceae http://purl.obolibrary.org/obo/DOID_5974 renal pelvis transitional cell carcinoma http://purl.obolibrary.org/obo/DOID_4919 renal pelvis carcinoma http://purl.obolibrary.org/obo/DOID_0111127 nephronophthisis 20 http://purl.obolibrary.org/obo/DOID_12712 nephronophthisis A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/NCBITaxon_91061 Bacilli http://purl.obolibrary.org/obo/DOID_1201 trigeminal nerve neoplasm http://purl.obolibrary.org/obo/DOID_2815 cranial nerve malignant neoplasm http://purl.obolibrary.org/obo/DOID_0111128 focal segmental glomerulosclerosis 1 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/NCBITaxon_186826 Lactobacillales http://purl.obolibrary.org/obo/NCBITaxon_91061 Bacilli http://purl.obolibrary.org/obo/DOID_12984 vagus nerve neoplasm http://purl.obolibrary.org/obo/DOID_2815 cranial nerve malignant neoplasm http://purl.obolibrary.org/obo/DOID_0111129 focal segmental glomerulosclerosis 2 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1. http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_91347 Enterobacterales http://purl.obolibrary.org/obo/DOID_14125 abducens nerve neoplasm http://purl.obolibrary.org/obo/DOID_2815 cranial nerve malignant neoplasm http://purl.obolibrary.org/obo/NCBITaxon_1903411 Yersiniaceae http://purl.obolibrary.org/obo/NCBITaxon_91347 Enterobacterales http://purl.obolibrary.org/obo/NCBITaxon_9845 Ruminantia http://purl.obolibrary.org/obo/NCBITaxon_91561 Artiodactyla http://purl.obolibrary.org/obo/NCBITaxon_1437201 Pentapetalae http://purl.obolibrary.org/obo/NCBITaxon_91827 Gunneridae http://purl.obolibrary.org/obo/DOID_0111130 focal segmental glomerulosclerosis 5 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33. http://purl.obolibrary.org/obo/DOID_409 liver disease http://purl.obolibrary.org/obo/DOID_3118 hepatobiliary disease http://purl.obolibrary.org/obo/NCBITaxon_3744 Rosales http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/DOID_0111131 focal segmental glomerulosclerosis 6 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2. http://purl.obolibrary.org/obo/DOID_5940 malignant peripheral nerve sheath tumor http://purl.obolibrary.org/obo/DOID_3193 peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/NCBITaxon_71239 Cucurbitales http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/DOID_0111132 focal segmental glomerulosclerosis 7 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/DOID_962 neurofibroma http://purl.obolibrary.org/obo/DOID_3193 peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/NCBITaxon_3646 Malpighiales http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/DOID_0111133 focal segmental glomerulosclerosis 8 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2. http://purl.obolibrary.org/obo/DOID_3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/NCBITaxon_41937 Sapindales http://purl.obolibrary.org/obo/NCBITaxon_91836 malvids http://purl.obolibrary.org/obo/DOID_0111134 focal segmental glomerulosclerosis 9 http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_13005 intra-abdominal lymph node mast cell malignancy http://purl.obolibrary.org/obo/DOID_10619 lymph node cancer http://purl.obolibrary.org/obo/NCBITaxon_4069 Solanales http://purl.obolibrary.org/obo/NCBITaxon_91888 lamiids http://purl.obolibrary.org/obo/DOID_0111135 congenital generalized lipodystrophy type 1 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_369 olfactory neuroblastoma http://purl.obolibrary.org/obo/DOID_370 malignant olfactory nerve neoplasm http://purl.obolibrary.org/obo/NCBITaxon_92251 Trombiculidae http://purl.obolibrary.org/obo/NCBITaxon_92088 Trombiculoidea http://purl.obolibrary.org/obo/DOID_0111136 congenital generalized lipodystrophy type 2 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. http://purl.obolibrary.org/obo/DOID_4556 lung large cell carcinoma http://purl.obolibrary.org/obo/DOID_3908 lung non-small cell carcinoma http://purl.obolibrary.org/obo/NCBITaxon_279271 Leptotrombidium http://purl.obolibrary.org/obo/NCBITaxon_92251 Trombiculidae http://purl.obolibrary.org/obo/NCBITaxon_715340 Pleosporineae http://purl.obolibrary.org/obo/NCBITaxon_92860 Pleosporales http://purl.obolibrary.org/obo/DOID_0111137 congenital generalized lipodystrophy type 3 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. http://purl.obolibrary.org/obo/DOID_1737 duodenal benign neoplasm http://purl.obolibrary.org/obo/DOID_7505 small intestine benign neoplasm http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/DOID_0111138 congenital generalized lipodystrophy type 4 http://purl.obolibrary.org/obo/DOID_0050585 congenital generalized lipodystrophy A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. http://purl.obolibrary.org/obo/DOID_3558 duodenal obstruction http://purl.obolibrary.org/obo/DOID_4072 duodenum disease http://purl.obolibrary.org/obo/NCBITaxon_768 Anaplasma http://purl.obolibrary.org/obo/NCBITaxon_942 Anaplasmataceae http://purl.obolibrary.org/obo/DOID_0080193 superior semicircular canal dehiscence http://purl.obolibrary.org/obo/DOID_2952 inner ear disease An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. http://purl.obolibrary.org/obo/DOID_4455 hereditary renal cell carcinoma http://purl.obolibrary.org/obo/DOID_4450 renal cell carcinoma http://purl.obolibrary.org/obo/NCBITaxon_943 Ehrlichia http://purl.obolibrary.org/obo/NCBITaxon_942 Anaplasmataceae http://purl.obolibrary.org/obo/DOID_0080194 Carey-Fineman-Ziter syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/DOID_4692 endophthalmitis http://purl.obolibrary.org/obo/NCBITaxon_106178 canis group http://purl.obolibrary.org/obo/NCBITaxon_943 Ehrlichia http://purl.obolibrary.org/obo/DOID_0080195 Marinesco-Sjogren syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. http://purl.obolibrary.org/obo/DOID_483 cavernous hemangioma http://purl.obolibrary.org/obo/DOID_484 vascular hemostatic disease http://purl.obolibrary.org/obo/NCBITaxon_35500 Pecora http://purl.obolibrary.org/obo/NCBITaxon_9845 Ruminantia http://purl.obolibrary.org/obo/DOID_0080196 mandibulofacial dysostosis, Guion-Almeida type http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. http://purl.obolibrary.org/obo/DOID_582 hemoglobinuria http://purl.obolibrary.org/obo/DOID_576 proteinuria http://purl.obolibrary.org/obo/NCBITaxon_27592 Bovinae http://purl.obolibrary.org/obo/NCBITaxon_9895 Bovidae http://purl.obolibrary.org/obo/DOID_0080197 congenital muscular dystrophy with cataracts and intellectual disability http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/DOID_5844 myocardial infarction http://purl.obolibrary.org/obo/NCBITaxon_9963 Caprinae http://purl.obolibrary.org/obo/NCBITaxon_9895 Bovidae http://purl.obolibrary.org/obo/DOID_0080198 infantile histiocytoid cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060036 intrinsic cardiomyopathy An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. http://purl.obolibrary.org/obo/DOID_3951 acute myocarditis http://purl.obolibrary.org/obo/DOID_820 myocarditis http://purl.obolibrary.org/obo/NCBITaxon_9913 Bos taurus http://purl.obolibrary.org/obo/NCBITaxon_9903 Bos http://purl.obolibrary.org/obo/DOID_0060904 legume allergy http://purl.obolibrary.org/obo/DOID_0060503 fruit allergy A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. http://purl.obolibrary.org/obo/DOID_8858 tonsil cancer http://purl.obolibrary.org/obo/DOID_0060073 lymphatic system cancer http://purl.obolibrary.org/obo/NCBITaxon_9925 Capra hircus http://purl.obolibrary.org/obo/NCBITaxon_9922 Capra http://purl.obolibrary.org/obo/DOID_0080661 nonsyndromic aplasia cutis congenita http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. http://purl.obolibrary.org/obo/DOID_9401 epididymo-orchitis http://purl.obolibrary.org/obo/DOID_9402 epididymitis http://purl.obolibrary.org/obo/NCBITaxon_9922 Capra http://purl.obolibrary.org/obo/NCBITaxon_9963 Caprinae http://purl.obolibrary.org/obo/DOID_0080662 atrial standstill 1 http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. http://purl.obolibrary.org/obo/DOID_0080663 atrial standstill 2 http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. http://purl.obolibrary.org/obo/HP_0004322 Short stature http://purl.obolibrary.org/obo/HP_0001510 Growth delay http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/DOID_0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. http://purl.obolibrary.org/obo/HP_0045058 Abnormality of the testis size http://purl.obolibrary.org/obo/HP_0000035 Abnormal testis morphology http://purl.obolibrary.org/obo/UBERON_0001301 epididymis http://purl.obolibrary.org/obo/UBERON_0005904 duct of male reproductive system http://purl.obolibrary.org/obo/DOID_0080665 warfarin resistance http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin. http://purl.obolibrary.org/obo/HP_0100600 Penoscrotal transposition http://purl.obolibrary.org/obo/HP_0000045 Abnormal scrotum morphology http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/DOID_0080666 warfarin sensitivity http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. http://purl.obolibrary.org/obo/HP_0030263 Torsion of the penis http://purl.obolibrary.org/obo/HP_0000036 Abnormal penis morphology http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/DOID_0111790 congenital nystagmus 1 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene (FERM domain-containing-7) on chromosome Xq26. http://purl.obolibrary.org/obo/HP_0030264 Webbed penis http://purl.obolibrary.org/obo/HP_0000036 Abnormal penis morphology http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_0111791 congenital nystagmus 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1. http://purl.obolibrary.org/obo/HP_0032076 Abnormal male urethral meatus morphology http://purl.obolibrary.org/obo/HP_0000036 Abnormal penis morphology http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/DOID_0111792 congenital nystagmus 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. http://purl.obolibrary.org/obo/HP_0008734 Decreased testicular size http://purl.obolibrary.org/obo/HP_0010468 Aplasia/Hypoplasia of the testes http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_0111793 congenital nystagmus 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2. http://purl.obolibrary.org/obo/HP_0040252 Abnormal size of the clitoris http://purl.obolibrary.org/obo/HP_0000056 Abnormal clitoris morphology http://purl.obolibrary.org/obo/UBERON_0000977 pleura http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/DOID_0111795 congenital nystagmus 6 http://purl.obolibrary.org/obo/DOID_9649 congenital nystagmus A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/HP_0025633 Abnormal ureter morphology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter http://purl.obolibrary.org/obo/UBERON_0002358 peritoneum http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/DOID_0111796 congenital nystagmus 5 http://purl.obolibrary.org/obo/DOID_0080009 X-linked dominant disease A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter http://purl.obolibrary.org/obo/UBERON_0001297 serosa of uterus http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0111797 autosomal recessive congenital nystagmus http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital nystagmus characterized by autosomal recessive inheritance. http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/UBERON_0002095 mesentery http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/DOID_0111798 X-linked nephrolithiasis type I http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/HP_0033337 Abnormal gametogenesis http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/UBERON_0001714 cranial ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/DOID_0111799 syndromic microphthalmia 1 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney http://purl.obolibrary.org/obo/UBERON_0001800 sensory ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/DOID_0111800 syndromic microphthalmia 12 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. http://purl.obolibrary.org/obo/HP_0001548 Overgrowth http://purl.obolibrary.org/obo/HP_0000098 Tall stature http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/DOID_0111801 syndromic microphthalmia 3 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. http://purl.obolibrary.org/obo/HP_0100877 Renal diverticulum http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/DOID_0111802 syndromic microphthalmia 14 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/DOID_0111803 syndromic microphthalmia 8 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. http://purl.obolibrary.org/obo/HP_0001510 Growth delay http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/UBERON_0001765 mammary duct http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/DOID_0111804 syndromic microphthalmia 11 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/DOID_0111805 syndromic microphthalmia 6 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. http://purl.obolibrary.org/obo/UBERON_0003928 digestive system duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/DOID_0111806 syndromic microphthalmia 5 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. http://purl.obolibrary.org/obo/UBERON_0005904 duct of male reproductive system http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0111807 syndromic microphthalmia 9 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. http://purl.obolibrary.org/obo/DOID_0111808 linear skin defects with multiple congenital anomalies 1 http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/HP_0025354 Abnormal cellular phenotype http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/UBERON_0006553 renal duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/DOID_0111809 syndromic microphthalmia 2 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11. http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/UBERON_0001811 conjunctiva http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/DOID_0111811 syndromic microphthalmia 13 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. http://purl.obolibrary.org/obo/HP_0031105 Abnormal uterus morphology http://purl.obolibrary.org/obo/HP_0000130 Abnormality of the uterus http://purl.obolibrary.org/obo/UBERON_0016435 chest wall http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/DOID_0111812 syndromic microphthalmia 10 http://purl.obolibrary.org/obo/DOID_0080636 syndromic microphthalmia A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080669 posterior polymorphous corneal dystrophy 4 http://purl.obolibrary.org/obo/DOID_0060457 posterior polymorphous corneal dystrophy A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. http://purl.obolibrary.org/obo/HP_0006483 Abnormal number of teeth http://purl.obolibrary.org/obo/HP_0000164 Abnormality of the dentition http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080670 Meesmann corneal dystrophy 1 http://purl.obolibrary.org/obo/DOID_0060451 Meesmann corneal dystrophy A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. http://purl.obolibrary.org/obo/HP_0011077 Abnormality of molar http://purl.obolibrary.org/obo/HP_0000164 Abnormality of the dentition http://purl.obolibrary.org/obo/UBERON_0003037 septum http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080671 Meesmann corneal dystrophy 2 http://purl.obolibrary.org/obo/DOID_0060451 Meesmann corneal dystrophy A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080672 fibrochondrogenesis 1 http://purl.obolibrary.org/obo/DOID_0060465 fibrochondrogenesis A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. http://purl.obolibrary.org/obo/HP_0040194 Increased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080673 fibrochondrogenesis 2 http://purl.obolibrary.org/obo/DOID_0060465 fibrochondrogenesis A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080674 luminal breast carcinoma B http://purl.obolibrary.org/obo/DOID_3459 breast carcinoma A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. http://purl.obolibrary.org/obo/HP_0000275 Narrow face http://purl.obolibrary.org/obo/HP_0000274 Small face http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080675 Stickler syndrome 2 http://purl.obolibrary.org/obo/DOID_0080046 Stickler syndrome A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. http://purl.obolibrary.org/obo/HP_0000278 Retrognathia http://purl.obolibrary.org/obo/HP_0000277 Abnormal mandible morphology http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080676 Stickler syndrome 1 http://purl.obolibrary.org/obo/DOID_0080046 Stickler syndrome A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. http://purl.obolibrary.org/obo/HP_0011220 Prominent forehead http://purl.obolibrary.org/obo/HP_0000290 Abnormal forehead morphology http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. http://purl.obolibrary.org/obo/HP_0010668 Abnormal zygomatic bone morphology http://purl.obolibrary.org/obo/HP_0011821 Abnormal facial skeleton morphology http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080678 mucolipidosis III gamma http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13. http://purl.obolibrary.org/obo/HP_0011800 Midface retrusion http://purl.obolibrary.org/obo/HP_0000309 Abnormal midface morphology http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080679 neuronal intestinal dysplasia type A http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. http://purl.obolibrary.org/obo/HP_0008609 Abnormal middle ear morphology http://purl.obolibrary.org/obo/HP_0000370 Abnormality of the middle ear http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080680 neuronal intestinal dysplasia type B http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. http://purl.obolibrary.org/obo/HP_0011486 Abnormal corneal thickness http://purl.obolibrary.org/obo/HP_0000481 Abnormal cornea morphology http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_0080681 X-linked chronic idiopathic intestinal pseudo-obstruction http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. http://purl.obolibrary.org/obo/HP_0012795 Abnormal optic disc morphology http://purl.obolibrary.org/obo/HP_0000587 Abnormal optic nerve morphology http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080682 autosomal dominant familial visceral neuropathy http://purl.obolibrary.org/obo/DOID_0080072 intestinal pseudo-obstruction An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. http://purl.obolibrary.org/obo/HP_0100033 Tics http://purl.obolibrary.org/obo/HP_0000722 Compulsive behaviors http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080683 nonsyndromic congenital nail disorder http://purl.obolibrary.org/obo/DOID_4123 nail disease A nail disease that is characterized by underdevelopment of nails. http://purl.obolibrary.org/obo/HP_0006711 Aplasia/Hypoplasia involving bones of the thorax http://purl.obolibrary.org/obo/HP_0009122 Aplasia/hypoplasia affecting bones of the axial skeleton http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_0080684 diffuse midline glioma, H3 K27-altered http://purl.obolibrary.org/obo/DOID_3070 high grade glioma A histone mutated tumor that is characterized by loss of histone H3 p.K28me3 (K27me3) methylation and located throughout the midline structures of the central nervous system. Methylation loss may be due to p.K28M (K27M) mutation in one of the histone H3 isoforms (H3.1, H3.2, or H3.3), overexpression of EZHIP, or mutation of the EGFR gene. http://purl.obolibrary.org/obo/HP_0000768 Pectus carinatum http://purl.obolibrary.org/obo/HP_0000766 Abnormal sternum morphology http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0080685 aortic dissection http://purl.obolibrary.org/obo/DOID_520 aortic disease An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. http://purl.obolibrary.org/obo/HP_0031093 Abnormal breast morphology http://purl.obolibrary.org/obo/HP_0000769 Abnormality of the breast http://purl.obolibrary.org/obo/UBERON_0000955 brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000997 mammalian vulva http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0080686 tubular aggregate myopathy 2 http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/HP_0008706 Distal urethral duplication http://purl.obolibrary.org/obo/HP_0000795 Abnormality of the urethra http://purl.obolibrary.org/obo/UBERON_0001043 esophagus http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0080687 reducing body myopathy 1B http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. http://purl.obolibrary.org/obo/HP_0010481 Urethral valve http://purl.obolibrary.org/obo/HP_0000796 Urethral obstruction http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. http://purl.obolibrary.org/obo/HP_0034378 Urethrovesical occlusion http://purl.obolibrary.org/obo/HP_0000796 Urethral obstruction http://purl.obolibrary.org/obo/UBERON_0005057 immune organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0080689 mosaic variegated aneuploidy syndrome 3 http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. http://purl.obolibrary.org/obo/HP_0000777 Abnormal thymus morphology http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0080691 Noonan syndrome-like disorder with loose anagen hair http://purl.obolibrary.org/obo/DOID_0080690 RASopathy A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. http://purl.obolibrary.org/obo/HP_0200000 Dysharmonic skeletal maturation http://purl.obolibrary.org/obo/HP_0000927 Abnormality of skeletal maturation http://purl.obolibrary.org/obo/UBERON_0000171 respiration organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0080692 Noonan syndrome-like disorder with loose anagen hair 1 http://purl.obolibrary.org/obo/DOID_0080691 Noonan syndrome-like disorder with loose anagen hair A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. http://purl.obolibrary.org/obo/DOID_0080693 Noonan syndrome-like disorder with loose anagen hair 2 http://purl.obolibrary.org/obo/DOID_0080691 Noonan syndrome-like disorder with loose anagen hair A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. http://purl.obolibrary.org/obo/HP_0009116 Aplasia/Hypoplasia involving bones of the skull http://purl.obolibrary.org/obo/HP_0009122 Aplasia/hypoplasia affecting bones of the axial skeleton http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0080694 Galloway-Mowat syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. http://purl.obolibrary.org/obo/HP_0031158 Widened atrophic scar http://purl.obolibrary.org/obo/HP_0001075 Atrophic scars http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/DOID_0080695 Burn-McKeown syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature. http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth http://purl.obolibrary.org/obo/UBERON_0002075 viscus http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/DOID_0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. http://purl.obolibrary.org/obo/HP_0002344 Progressive neurologic deterioration http://purl.obolibrary.org/obo/HP_0001268 Mental deterioration http://purl.obolibrary.org/obo/UBERON_0002097 skin of body http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_0111860 AMME complex http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. http://purl.obolibrary.org/obo/HP_0033725 Thin corpus callosum http://purl.obolibrary.org/obo/HP_0001273 Abnormal corpus callosum morphology http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0111861 Meester-Loeys syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. http://purl.obolibrary.org/obo/HP_0001373 Joint dislocation http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0111862 congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/DOID_12336 male infertility A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. http://purl.obolibrary.org/obo/HP_0005217 Abdominal organ duplication http://purl.obolibrary.org/obo/HP_0001438 Abnormal abdomen morphology http://purl.obolibrary.org/obo/UBERON_0004177 hemopoietic organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0111863 X-linked congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/DOID_0111862 congenital bilateral absence of vas deferens A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. http://purl.obolibrary.org/obo/HP_0025276 Abnormality of skin adnexa physiology http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0111864 autosomal recessive congenital bilateral absence of vas deferens http://purl.obolibrary.org/obo/DOID_0111862 congenital bilateral absence of vas deferens A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/DOID_0111865 MEND syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. http://purl.obolibrary.org/obo/HP_0033796 Abnormal leukocyte physiology http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy http://purl.obolibrary.org/obo/DOID_0111866 trichothiodystrophy A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation. http://purl.obolibrary.org/obo/HP_0011875 Abnormal platelet morphology http://purl.obolibrary.org/obo/HP_0001872 Abnormality of thrombocytes http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0111868 nonphotosensitive trichothiodystrophy 5 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. http://purl.obolibrary.org/obo/HP_0020064 Abnormal total eosinophil count http://purl.obolibrary.org/obo/HP_0032309 Abnormal granulocyte count http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0111869 photosensitive trichothiodystrophy 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. http://purl.obolibrary.org/obo/HP_0001762 Talipes equinovarus http://purl.obolibrary.org/obo/HP_0001883 Talipes http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/HP_0032309 Abnormal granulocyte count http://purl.obolibrary.org/obo/HP_0011893 Abnormal leukocyte count http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/DOID_0111870 nonphotosensitive trichothiodystrophy 7 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. http://purl.obolibrary.org/obo/UBERON_0005179 pelvic region element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/DOID_0111871 photosensitive trichothiodystrophy 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/HP_0032243 Abnormal tissue metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/DOID_0111872 nonphotosensitive trichothiodystrophy 6 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. http://purl.obolibrary.org/obo/HP_0006530 Abnormal pulmonary interstitial morphology http://purl.obolibrary.org/obo/HP_0002088 Abnormal lung morphology http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_0111873 photosensitive trichothiodystrophy 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/HP_0000750 Delayed speech and language development http://purl.obolibrary.org/obo/HP_0012758 Neurodevelopmental delay http://purl.obolibrary.org/obo/UBERON_0035651 glans http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0111874 Sabinas brittle hair syndrome http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. http://purl.obolibrary.org/obo/UBERON_0001257 trigone of urinary bladder http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/HP_0430000 Abnormal frontal bone morphology http://purl.obolibrary.org/obo/HP_0002683 Abnormal calvaria morphology http://purl.obolibrary.org/obo/DOID_0111876 linear skin defects with multiple congenital anomalies 3 http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/HP_0032251 Abnormal immune system morphology http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_0111877 linear skin defects with multiple congenital anomalies 2 http://purl.obolibrary.org/obo/DOID_0111875 MLS syndrome A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/HP_0005832 Dysharmonic delayed bone age http://purl.obolibrary.org/obo/HP_0200000 Dysharmonic skeletal maturation http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_0111878 Diamond-Blackfan anemia 7 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. http://purl.obolibrary.org/obo/HP_0040069 Abnormal lower limb bone morphology http://purl.obolibrary.org/obo/HP_0002814 Abnormality of the lower limb http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/DOID_0111879 Diamond-Blackfan anemia 6 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. http://purl.obolibrary.org/obo/HP_0034669 Abnormal knee morphology http://purl.obolibrary.org/obo/HP_0002815 Abnormality of the knee http://purl.obolibrary.org/obo/UBERON_0001851 cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_0111880 Diamond-Blackfan anemia 17 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/HP_0002970 Genu varum http://purl.obolibrary.org/obo/HP_0034669 Abnormal knee morphology http://purl.obolibrary.org/obo/UBERON_0001862 vestibular labyrinth http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_0111881 Diamond-Blackfan anemia 8 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis http://purl.obolibrary.org/obo/UBERON_0003215 alveolus http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_0111882 Diamond-Blackfan anemia 12 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2. http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration http://purl.obolibrary.org/obo/DOID_0111883 Diamond-Blackfan anemia 5 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29. http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/HP_0007182 Peripheral hypomyelination http://purl.obolibrary.org/obo/HP_0003130 Abnormal peripheral myelination http://purl.obolibrary.org/obo/DOID_0111884 Diamond-Blackfan anemia 9 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/HP_0002503 Spinocerebellar tract degeneration http://purl.obolibrary.org/obo/HP_0003133 Abnormal spinocerebellar tract morphology http://purl.obolibrary.org/obo/DOID_0111885 Diamond-Blackfan anemia 2 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. http://purl.obolibrary.org/obo/UBERON_0016526 lobe of cerebral hemisphere http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/HP_0030059 Mitochondrial depletion http://purl.obolibrary.org/obo/HP_0003287 Abnormality of mitochondrial metabolism http://purl.obolibrary.org/obo/DOID_0111886 Diamond-Blackfan anemia 19 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/DOID_0111887 Diamond-blackfan anemia 3 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. http://purl.obolibrary.org/obo/UBERON_0022275 colic flexure http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/HP_0000926 Platyspondyly http://purl.obolibrary.org/obo/HP_0003312 Abnormal vertebral body morphology http://purl.obolibrary.org/obo/DOID_0111888 Diamond-Blackfan anemia 10 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2. http://purl.obolibrary.org/obo/UBERON_0001558 lower respiratory tract http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/HP_0004566 Pear-shaped vertebrae http://purl.obolibrary.org/obo/HP_0003312 Abnormal vertebral body morphology http://purl.obolibrary.org/obo/DOID_0111889 Diamond-Blackfan anemia 13 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. http://purl.obolibrary.org/obo/DOID_0111890 Diamond-Blackfan anemia 4 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. http://purl.obolibrary.org/obo/UBERON_0001737 larynx http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/HP_0002812 Coxa vara http://purl.obolibrary.org/obo/HP_0003367 Abnormal femoral neck morphology http://purl.obolibrary.org/obo/HP_0003521 Disproportionate short-trunk short stature http://purl.obolibrary.org/obo/HP_0009121 Abnormal axial skeleton morphology http://purl.obolibrary.org/obo/DOID_0111891 Diamond-Blackfan anemia 20 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/HP_0008873 Disproportionate short-limb short stature http://purl.obolibrary.org/obo/HP_0003498 Disproportionate short stature http://purl.obolibrary.org/obo/DOID_0111892 Diamond-Blackfan anemia 11 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/HP_0003510 Severe short stature http://purl.obolibrary.org/obo/HP_0003508 Proportionate short stature http://purl.obolibrary.org/obo/UBERON_0001130 vertebral column http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/DOID_0111893 Diamond-Blackfan anemia 16 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/HP_0100699 Scarring http://purl.obolibrary.org/obo/HP_0003549 Abnormality of connective tissue http://purl.obolibrary.org/obo/UBERON_0001270 bony pelvis http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/DOID_0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/HP_0001252 Hypotonia http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone http://purl.obolibrary.org/obo/UBERON_0013118 sulcus of brain http://purl.obolibrary.org/obo/UBERON_0000093 sulcus http://purl.obolibrary.org/obo/DOID_0111895 Diamond-Blackfan anemia 1 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/HP_0001824 Weight loss http://purl.obolibrary.org/obo/HP_0004325 Decreased body weight http://purl.obolibrary.org/obo/UBERON_0002360 meninx http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/DOID_0111896 Diamond-Blackfan anemia 18 http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/HP_0032368 Acidemia http://purl.obolibrary.org/obo/HP_0004360 Abnormality of acid-base homeostasis http://purl.obolibrary.org/obo/UBERON_0002185 bronchus http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/DOID_0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis http://purl.obolibrary.org/obo/DOID_1339 Diamond-Blackfan anemia A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/HP_0033405 Abnormal circulating organic amino compound concentration http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration http://purl.obolibrary.org/obo/UBERON_0003126 trachea http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/DOID_0080912 cerebrooculofacioskeletal syndrome 2 http://purl.obolibrary.org/obo/DOID_0080910 cerebrooculofacioskeletal syndrome A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. http://purl.obolibrary.org/obo/HP_0000774 Narrow chest http://purl.obolibrary.org/obo/HP_0005257 Thoracic hypoplasia http://purl.obolibrary.org/obo/UBERON_0002186 bronchiole http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/DOID_0112281 spondyloepiphyseal dysplasia Stanescu type http://purl.obolibrary.org/obo/DOID_0112280 spondyloepiphyseal dysplasia A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. http://purl.obolibrary.org/obo/HP_0010701 Abnormal circulating immunoglobulin concentration http://purl.obolibrary.org/obo/HP_0005368 Abnormality of humoral immunity http://purl.obolibrary.org/obo/UBERON_0002076 cuticle of hair http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/DOID_0112254 hepatic venoocclusive disease with immunodeficiency http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. http://purl.obolibrary.org/obo/HP_0001022 Albinism http://purl.obolibrary.org/obo/HP_0007513 Generalized hypopigmentation http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is comprised of a shortage of a nutrient. http://purl.obolibrary.org/obo/HP_0011070 Abnormal molar morphology http://purl.obolibrary.org/obo/HP_0011077 Abnormality of molar http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/DISDRIV_0000002 socioeconomic driver http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is related to or concerning the interaction of social and economic factors. http://purl.obolibrary.org/obo/HP_0000972 Palmoplantar hyperkeratosis http://purl.obolibrary.org/obo/HP_0010765 Palmar hyperkeratosis http://purl.obolibrary.org/obo/UBERON_0002211 nerve root http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/DISDRIV_0000003 biological driver http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is of biological origin. http://purl.obolibrary.org/obo/HP_0031038 Spermatogenesis maturation arrest http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis http://purl.obolibrary.org/obo/UBERON_0004904 neuron projection bundle connecting eye with brain http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/DISDRIV_0000004 deficiency of biotin http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency A nutrient deficiency of vitamin B7 (biotin) foods like eggs, milk, and bananas. http://purl.obolibrary.org/obo/HP_0000347 Micrognathia http://purl.obolibrary.org/obo/HP_0009118 Aplasia/Hypoplasia of the mandible http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/DISDRIV_0000005 deficiency of choline http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency A nutrient deficiency of choline. http://purl.obolibrary.org/obo/HP_0009122 Aplasia/hypoplasia affecting bones of the axial skeleton http://purl.obolibrary.org/obo/HP_0009115 Aplasia/hypoplasia involving the skeleton http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0001245 anus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver A disease driver that is a chemical. http://purl.obolibrary.org/obo/HP_0002983 Micromelia http://purl.obolibrary.org/obo/HP_0009826 Limb undergrowth http://purl.obolibrary.org/obo/HP_0003027 Mesomelia http://purl.obolibrary.org/obo/HP_0009826 Limb undergrowth http://purl.obolibrary.org/obo/UBERON_0012303 ureteral orifice http://purl.obolibrary.org/obo/UBERON_0010418 urethral opening http://purl.obolibrary.org/obo/DISDRIV_0000007 deficiency of vitamin C http://purl.obolibrary.org/obo/DISDRIV_0000001 nutrient deficiency A nutrient deficiency of vitamin C. http://purl.obolibrary.org/obo/HP_0003187 Breast hypoplasia http://purl.obolibrary.org/obo/HP_0010311 Aplasia/Hypoplasia of the breasts http://purl.obolibrary.org/obo/UBERON_0010418 urethral opening http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/SYMP_0020045 balance symptom http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by any of the following: dizziness or vertigo (a spinning sensation); falling or feeling as if you are going to fall; staggering when walking; lightheadedness, faintness, or a floating sensation; and confusion or disorientation. http://purl.obolibrary.org/obo/HP_0003307 Hyperlordosis http://purl.obolibrary.org/obo/HP_0010674 Abnormal curvature of the vertebral column http://purl.obolibrary.org/obo/HP_0003231 Hypertyrosinemia http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration http://purl.obolibrary.org/obo/UBERON_0001158 descending colon http://purl.obolibrary.org/obo/UBERON_0000168 proximal-distal subdivision of colon http://purl.obolibrary.org/obo/DOID_0081334 Nestor-Guillermo progeria syndrome http://purl.obolibrary.org/obo/DOID_0081332 progeroid syndrome A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. http://purl.obolibrary.org/obo/HP_0005368 Abnormality of humoral immunity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/UBERON_0001159 sigmoid colon http://purl.obolibrary.org/obo/UBERON_0000168 proximal-distal subdivision of colon http://purl.obolibrary.org/obo/DOID_0081362 Pierpont syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/UBERON_0002048 lung http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_0081341 congenital myopathy 5 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/HP_0030976 Abnormal factor VIII activity http://purl.obolibrary.org/obo/HP_0010989 Abnormality of the intrinsic pathway http://purl.obolibrary.org/obo/HP_0040145 Dicarboxylic acidemia http://purl.obolibrary.org/obo/HP_0032368 Acidemia http://purl.obolibrary.org/obo/UBERON_0000178 blood http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/DOID_0070523 peeling skin syndrome 4 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. http://purl.obolibrary.org/obo/HP_0020347 Abnormal circulating monosaccharide concentration http://purl.obolibrary.org/obo/HP_0011013 Abnormal circulating carbohydrate concentration http://purl.obolibrary.org/obo/UBERON_0002391 lymph http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/UBERON_0012332 broad ligament of uterus http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/UBERON_0008845 nonskeletal ligament http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/DOID_0070530 foveal hypoplasia 1 http://purl.obolibrary.org/obo/DOID_5679 retinal disease A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/UBERON_0008846 skeletal ligament http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/DOID_0070524 peeling skin syndrome 5 http://purl.obolibrary.org/obo/DOID_0060283 peeling skin syndrome A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/UBERON_0015214 arcuate ligament http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/UBERON_0036262 uterine ligament http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0081411 B-lymphoblastic leukemia with PAX5 p.P80R http://purl.obolibrary.org/obo/DOID_0080630 B-lymphoblastic leukemia/lymphoma A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. http://purl.obolibrary.org/obo/HP_0030956 Abnormality of cardiovascular system electrophysiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/UBERON_0001295 endometrium http://purl.obolibrary.org/obo/UBERON_0019042 reproductive system mucosa http://purl.obolibrary.org/obo/DOID_0081453 Dent disease 1 http://purl.obolibrary.org/obo/DOID_0050699 Dent disease A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. http://purl.obolibrary.org/obo/HP_0001789 Hydrops fetalis http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/UBERON_0001826 nasal cavity mucosa http://purl.obolibrary.org/obo/UBERON_0004785 respiratory system mucosa http://purl.obolibrary.org/obo/UBERON_0003729 mouth mucosa http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/DOID_0081454 Dent disease 2 http://purl.obolibrary.org/obo/DOID_0050699 Dent disease A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology http://purl.obolibrary.org/obo/UBERON_0004785 respiratory system mucosa http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/DOID_0060948 Ullrich congenital muscular dystrophy 2 http://purl.obolibrary.org/obo/DOID_0050558 Ullrich congenital muscular dystrophy An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. http://purl.obolibrary.org/obo/DOID_0060953 ZTTK syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. http://purl.obolibrary.org/obo/HP_0001000 Abnormal skin pigmentation http://purl.obolibrary.org/obo/HP_0011121 Abnormal skin morphology http://purl.obolibrary.org/obo/HP_0032162 Unusual skin infection http://purl.obolibrary.org/obo/HP_0032158 Unusual infection by anatomical site http://purl.obolibrary.org/obo/HP_0040211 Abnormal skin morphology of the palm http://purl.obolibrary.org/obo/HP_0100871 Abnormal palm morphology http://purl.obolibrary.org/obo/UBERON_0004983 mucosa of vagina http://purl.obolibrary.org/obo/UBERON_0019042 reproductive system mucosa http://purl.obolibrary.org/obo/DOID_0060958 orofaciodigital syndrome XIV http://purl.obolibrary.org/obo/DOID_4501 orofaciodigital syndrome An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/HP_0008070 Sparse hair http://purl.obolibrary.org/obo/HP_0011362 Abnormal hair quantity http://purl.obolibrary.org/obo/UBERON_0019042 reproductive system mucosa http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. http://purl.obolibrary.org/obo/HP_0000962 Hyperkeratosis http://purl.obolibrary.org/obo/HP_0011368 Epidermal thickening http://purl.obolibrary.org/obo/UBERON_0008230 tibialis http://purl.obolibrary.org/obo/UBERON_0004256 hindlimb zeugopod muscle http://purl.obolibrary.org/obo/DOID_0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common. http://purl.obolibrary.org/obo/DOID_0070590 spermatogenic failure 91 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_0061002 congenital amegakaryocytic thrombocytopenia 2 http://purl.obolibrary.org/obo/DOID_0090118 congenital amegakaryocytic thrombocytopenia A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. http://purl.obolibrary.org/obo/SYMP_0000537 cyanosis http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by a bluish or purplish discoloration (as of skin) due to deficient oxygenation of the blood. http://purl.obolibrary.org/obo/SYMP_0000219 receptive aphasia http://purl.obolibrary.org/obo/SYMP_0000215 inability to comprehend speech An inability to comprehend speech that is characterized by an inability to understand spoken, written, or tactile speech symbols that results from damage (as by a brain lesion) to an area of the brain (as Wernicke's area) concerned with language. http://purl.obolibrary.org/obo/SYMP_0000682 altered mental status http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by a host of presentations that include changes in cognition, mood, behavior, and/or level of arousal. http://purl.obolibrary.org/obo/SYMP_0000823 sinus bradycardia http://purl.obolibrary.org/obo/SYMP_0000231 bradycardia Sinus bradycardia is a bradycardia where the sinus rhythm is abnormally slow bradycardia consisting of a sinus rhythm at a rate lower than 60 beats per minute. http://purl.obolibrary.org/obo/HP_0007431 Congenital ichthyosiform erythroderma http://purl.obolibrary.org/obo/HP_0011368 Epidermal thickening http://purl.obolibrary.org/obo/UBERON_0001831 parotid gland http://purl.obolibrary.org/obo/UBERON_0012102 buccal salivary gland http://purl.obolibrary.org/obo/SYMP_0000242 cough with bloody sputum http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by production and expectoration (bringing up) of sputum that is bright red or pink and frothy. http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/TRANS_0000010 vehicle-borne transmission http://purl.obolibrary.org/obo/TRANS_0000002 indirect transmission Vehicle-borne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by inanimate intermediary vehicle objects. http://purl.obolibrary.org/obo/HP_4000074 Involuntary vocalization http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/DOID_0081009 Bardet-Biedl syndrome 20 http://purl.obolibrary.org/obo/DOID_1935 Bardet-Biedl syndrome A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. http://purl.obolibrary.org/obo/HP_5200241 Recurrent maladaptive behavior http://purl.obolibrary.org/obo/HP_0011446 Abnormality of mental function http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/DOID_0070336 arthrogryposis multiplex congenita-6 http://purl.obolibrary.org/obo/DOID_0080954 arthrogryposis multiplex congenita An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. http://purl.obolibrary.org/obo/HP_0025766 Abnormal affect http://purl.obolibrary.org/obo/HP_0011446 Abnormality of mental function http://purl.obolibrary.org/obo/UBERON_0000167 oral cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/HP_0025792 Abnormal cognitive process http://purl.obolibrary.org/obo/HP_0011446 Abnormality of mental function http://purl.obolibrary.org/obo/HP_0003202 Skeletal muscle atrophy http://purl.obolibrary.org/obo/HP_0011805 Abnormal skeletal muscle morphology http://purl.obolibrary.org/obo/HP_0030791 Abnormal jaw morphology http://purl.obolibrary.org/obo/HP_0011821 Abnormal facial skeleton morphology http://purl.obolibrary.org/obo/DOID_0081126 DeSanto-Shinawi syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. http://purl.obolibrary.org/obo/UBERON_0003691 epidural space http://purl.obolibrary.org/obo/UBERON_0010276 space in vertebral column http://purl.obolibrary.org/obo/HP_0009115 Aplasia/hypoplasia involving the skeleton http://purl.obolibrary.org/obo/HP_0011842 Abnormal skeletal morphology http://purl.obolibrary.org/obo/DOID_0081127 mandibuloacral dysplasia http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. http://purl.obolibrary.org/obo/UBERON_0003693 retroperitoneal space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification http://purl.obolibrary.org/obo/DOID_0081128 mandibuloacral dysplasia type A lipodystrophy http://purl.obolibrary.org/obo/DOID_0081127 mandibuloacral dysplasia A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology http://purl.obolibrary.org/obo/DOID_0081129 mandibuloacral dysplasia type B lipodystrophy http://purl.obolibrary.org/obo/DOID_0081127 mandibuloacral dysplasia A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. http://purl.obolibrary.org/obo/UBERON_0000093 sulcus http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology http://purl.obolibrary.org/obo/DOID_0081130 BH4-deficient hyperphenylalaninemia C http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. http://purl.obolibrary.org/obo/UBERON_0002224 thoracic cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology http://purl.obolibrary.org/obo/DOID_0081131 BH4-deficient hyperphenylalaninemia D http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology http://purl.obolibrary.org/obo/DOID_0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. http://purl.obolibrary.org/obo/UBERON_0010276 space in vertebral column http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/HP_0011282 Abnormal hindbrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormal brain morphology http://purl.obolibrary.org/obo/DOID_0081133 3-methylglutaconic aciduria type 7a http://purl.obolibrary.org/obo/DOID_0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. http://purl.obolibrary.org/obo/UBERON_0014930 perivascular space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/HP_0033259 Non-motor seizure http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology http://purl.obolibrary.org/obo/DOID_0081134 3-methylglutaconic aciduria type 7b http://purl.obolibrary.org/obo/DOID_0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology http://purl.obolibrary.org/obo/HP_0012641 Decreased intracranial pressure http://purl.obolibrary.org/obo/HP_0012640 Abnormality of intracranial pressure http://purl.obolibrary.org/obo/DOID_0081135 agammaglobulinemia 2 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/HP_0030895 Abnormal gastrointestinal motility http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/DOID_0081136 agammaglobulinemia 1 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/HP_0012435 Ventral shortening of foreskin http://purl.obolibrary.org/obo/HP_0100587 Abnormal preputium morphology http://purl.obolibrary.org/obo/DOID_0081137 agammaglobulinemia 3 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/HP_0100765 Abnormality of the tonsils http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system http://purl.obolibrary.org/obo/DOID_0081138 agammaglobulinemia 6 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/NCBITaxon_2842242 Ribozyviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/DOID_0081139 agammaglobulinemia 7 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13. http://purl.obolibrary.org/obo/UBERON_0000016 endocrine pancreas http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/NCBITaxon_2731341 Duplodnaviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/DOID_0081140 agammaglobulinemia 8A http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/NCBITaxon_2731342 Floreoviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/DOID_0081141 agammaglobulinemia 9 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. http://purl.obolibrary.org/obo/NCBITaxon_2732004 Varidnaviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/UBERON_0002101 limb http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/DOID_0081142 agammaglobulinemia 10 http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. http://purl.obolibrary.org/obo/NCBITaxon_2955291 Alphainfluenzavirus influenzae http://purl.obolibrary.org/obo/NCBITaxon_197911 Alphainfluenzavirus http://purl.obolibrary.org/obo/UBERON_0000026 appendage http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_0081143 agammaglobulinemia 8B http://purl.obolibrary.org/obo/DOID_2583 agammaglobulinemia An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. http://purl.obolibrary.org/obo/NCBITaxon_2955935 Gammainfluenzavirus influenzae http://purl.obolibrary.org/obo/NCBITaxon_197913 Gammainfluenzavirus http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_0081144 common variable immunodeficiency 1 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. http://purl.obolibrary.org/obo/NCBITaxon_6032 Apansporoblastina http://purl.obolibrary.org/obo/NCBITaxon_6029 Microsporidia http://purl.obolibrary.org/obo/UBERON_0001464 hip http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_0081145 common variable immunodeficiency 2 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. http://purl.obolibrary.org/obo/NCBITaxon_44534 Cellia http://purl.obolibrary.org/obo/NCBITaxon_7164 Anopheles http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_0081146 common variable immunodeficiency 3 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/UBERON_0002133 atrioventricular valve http://purl.obolibrary.org/obo/UBERON_0000946 cardiac valve http://purl.obolibrary.org/obo/UBERON_0008337 inguinal part of abdomen http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_0081147 common variable immunodeficiency 4 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve http://purl.obolibrary.org/obo/UBERON_0000946 cardiac valve http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_0081148 common variable immunodeficiency 5 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. http://purl.obolibrary.org/obo/UBERON_0000992 ovary http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_0081149 common variable immunodeficiency 6 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. http://purl.obolibrary.org/obo/UBERON_0001702 eyelash http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_0081150 common variable immunodeficiency 7 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. http://purl.obolibrary.org/obo/UBERON_0016446 hair of head http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/DOID_0081151 common variable immunodeficiency 8 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. http://purl.obolibrary.org/obo/UBERON_0001361 femoral vein http://purl.obolibrary.org/obo/UBERON_0003516 hindlimb blood vessel http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_0081152 common variable immunodeficiency 10 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. http://purl.obolibrary.org/obo/UBERON_0005610 iliac vein http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/UBERON_0011818 superficial fascia http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_0081153 common variable immunodeficiency 11 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. http://purl.obolibrary.org/obo/UBERON_0002017 portal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_0081154 common variable immunodeficiency 12 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. http://purl.obolibrary.org/obo/UBERON_0003479 thoracic cavity vein http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_0081155 common variable immunodeficiency 13 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. http://purl.obolibrary.org/obo/UBERON_0009141 craniocervical region vein http://purl.obolibrary.org/obo/UBERON_0013140 systemic vein http://purl.obolibrary.org/obo/UBERON_0001758 periodontium http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_0081156 common variable immunodeficiency 14 http://purl.obolibrary.org/obo/DOID_12177 common variable immunodeficiency A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. http://purl.obolibrary.org/obo/UBERON_0013140 systemic vein http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_0081157 dilated cardiomyopathy 1LL http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. http://purl.obolibrary.org/obo/UBERON_0001644 trochlear nerve http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/DOID_0081158 dilated cardiomyopathy 1MM http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. http://purl.obolibrary.org/obo/UBERON_0001646 abducens nerve http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_0081159 dilated cardiomyopathy 2C http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. http://purl.obolibrary.org/obo/UBERON_0001648 vestibulocochlear nerve http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0002068 urachus http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/DOID_0081160 dilated cardiomyopathy 2D http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. http://purl.obolibrary.org/obo/UBERON_0001650 hypoglossal nerve http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/UBERON_0002298 brainstem http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_0081161 dilated cardiomyopathy 2E http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. http://purl.obolibrary.org/obo/UBERON_0001759 vagus nerve http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0002407 pericardium http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/DOID_0081162 dilated cardiomyopathy 2F http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. http://purl.obolibrary.org/obo/UBERON_0001134 skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/DOID_0081163 dilated cardiomyopathy 2G http://purl.obolibrary.org/obo/DOID_12930 dilated cardiomyopathy A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue http://purl.obolibrary.org/obo/UBERON_0000073 regional part of nervous system http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/DOID_0081168 HMG-CoA synthase 2 deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/DOID_0081169 Leber congenital amaurosis 19 http://purl.obolibrary.org/obo/DOID_14791 Leber congenital amaurosis A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. http://purl.obolibrary.org/obo/UBERON_0000976 humerus http://purl.obolibrary.org/obo/UBERON_0015053 humerus endochondral element http://purl.obolibrary.org/obo/UBERON_0002749 regional part of cerebellar cortex http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. http://purl.obolibrary.org/obo/UBERON_0000979 tibia http://purl.obolibrary.org/obo/UBERON_0015004 tibia endochondral element http://purl.obolibrary.org/obo/UBERON_0007375 roof of mouth http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/DOID_0081176 hypotonia, ataxia, and delayed development syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_0081177 autosomal recessive intellectual developmental disorder 1 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. http://purl.obolibrary.org/obo/UBERON_0003607 forelimb long bone http://purl.obolibrary.org/obo/UBERON_0008962 forelimb bone http://purl.obolibrary.org/obo/UBERON_0003244 epithelium of mammary gland http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_0081178 autosomal recessive intellectual developmental disorder 2 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26. http://purl.obolibrary.org/obo/UBERON_0003608 hindlimb long bone http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0003843 dental epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_0081179 autosomal recessive intellectual developmental disorder 3 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13. http://purl.obolibrary.org/obo/UBERON_0012177 skin apocrine gland http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_0081180 autosomal recessive intellectual developmental disorder 12 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34. http://purl.obolibrary.org/obo/UBERON_0001255 urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0004670 ependyma http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/DOID_0081181 autosomal recessive intellectual developmental disorder 5 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. http://purl.obolibrary.org/obo/UBERON_0002110 gallbladder http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_0081182 autosomal recessive intellectual developmental disorder 6 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16. http://purl.obolibrary.org/obo/SYMP_0000307 inibility to stand http://purl.obolibrary.org/obo/SYMP_0000329 motor weakness http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/DOID_0081183 autosomal recessive intellectual developmental disorder 7 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22. http://purl.obolibrary.org/obo/SYMP_0020010 blurred vision with haloes http://purl.obolibrary.org/obo/SYMP_0000012 blurred vision http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/DOID_0081184 autosomal recessive intellectual developmental disorder 9/26 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus. http://purl.obolibrary.org/obo/SYMP_0020003 acholic stool http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_0081185 autosomal recessive intellectual developmental disorder 10/20 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus. http://purl.obolibrary.org/obo/SYMP_0000229 bloody stool http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom http://purl.obolibrary.org/obo/UBERON_0007376 outer epithelium http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/DOID_0081186 autosomal recessive intellectual developmental disorder 11 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149. http://purl.obolibrary.org/obo/SYMP_0000296 hepatic dysfunction http://purl.obolibrary.org/obo/SYMP_0000180 liver symptom http://purl.obolibrary.org/obo/UBERON_0007601 ciliated epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_0081187 autosomal recessive intellectual developmental disorder 4 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3. http://purl.obolibrary.org/obo/SYMP_0000350 parotid abscess http://purl.obolibrary.org/obo/SYMP_0000205 salivary gland symptom http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/SYMP_0000224 leg weakness http://purl.obolibrary.org/obo/SYMP_0000222 limb weakness http://purl.obolibrary.org/obo/DOID_0081188 autosomal recessive intellectual developmental disorder 14 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/SYMP_0000220 areflexia http://purl.obolibrary.org/obo/SYMP_0000249 reflex symptom http://purl.obolibrary.org/obo/SYMP_0000256 diminished gag reflex http://purl.obolibrary.org/obo/SYMP_0000249 reflex symptom http://purl.obolibrary.org/obo/DOID_0081189 autosomal recessive intellectual developmental disorder 16 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16. http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/UBERON_0001136 mesothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/SYMP_0000273 clonic seizure http://purl.obolibrary.org/obo/SYMP_0000267 generalized seizure http://purl.obolibrary.org/obo/UBERON_0002113 kidney http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_0081190 autosomal recessive intellectual developmental disorder 18 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. http://purl.obolibrary.org/obo/SYMP_0000313 joint inflammation http://purl.obolibrary.org/obo/SYMP_0000312 joint symptom http://purl.obolibrary.org/obo/UBERON_0002240 spinal cord http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_0081191 autosomal recessive intellectual developmental disorder 31 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838. http://purl.obolibrary.org/obo/SYMP_0000160 tracheobronchitis http://purl.obolibrary.org/obo/SYMP_0000385 throat symptom http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/DOID_0081192 autosomal recessive intellectual developmental disorder 29 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392. http://purl.obolibrary.org/obo/SYMP_0019181 hoarseness http://purl.obolibrary.org/obo/SYMP_0000385 throat symptom http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/UBERON_0003258 endoderm of foregut http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/DOID_0081193 autosomal recessive intellectual developmental disorder 27 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26. http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/SYMP_0020055 pharynx inflammation http://purl.obolibrary.org/obo/SYMP_0000385 throat symptom http://purl.obolibrary.org/obo/UBERON_0000925 endoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/DOID_0081194 autosomal recessive intellectual developmental disorder 33 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925. http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/SYMP_0000554 left lower quadrant abdominal rigidity http://purl.obolibrary.org/obo/SYMP_0000454 abdominal rigidity http://purl.obolibrary.org/obo/DOID_0081195 autosomal recessive intellectual developmental disorder 30 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/SYMP_0000471 multiple sites abdominal rigidity http://purl.obolibrary.org/obo/SYMP_0000454 abdominal rigidity http://purl.obolibrary.org/obo/DOID_0081196 autosomal recessive intellectual developmental disorder 23 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421. http://purl.obolibrary.org/obo/UBERON_0000362 renal medulla http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/SYMP_0000562 right upper quadrant abdominal swelling http://purl.obolibrary.org/obo/SYMP_0000478 abdominal swelling http://purl.obolibrary.org/obo/DOID_0081197 autosomal recessive intellectual developmental disorder 24 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. http://purl.obolibrary.org/obo/UBERON_0001365 sacro-iliac joint http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/SYMP_0000496 epigastric abdominal tenderness http://purl.obolibrary.org/obo/SYMP_0000484 abdominal tenderness http://purl.obolibrary.org/obo/DOID_0081198 autosomal recessive intellectual developmental disorder 25 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033. http://purl.obolibrary.org/obo/UBERON_0002001 joint of rib http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/SYMP_0000591 left upper quadrant abdominal tenderness http://purl.obolibrary.org/obo/SYMP_0000484 abdominal tenderness http://purl.obolibrary.org/obo/SYMP_0019142 lymphadenopathy http://purl.obolibrary.org/obo/SYMP_0000521 enlargement of lymph nodes http://purl.obolibrary.org/obo/DOID_0081199 autosomal recessive intellectual developmental disorder 28 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609. http://purl.obolibrary.org/obo/SYMP_0000736 lymph gland swelling http://purl.obolibrary.org/obo/SYMP_0000716 swelling symptom http://purl.obolibrary.org/obo/UBERON_0002217 synovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/DOID_0081200 autosomal recessive intellectual developmental disorder 34 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22. http://purl.obolibrary.org/obo/SYMP_0000717 leg swelling http://purl.obolibrary.org/obo/SYMP_0000716 swelling symptom http://purl.obolibrary.org/obo/UBERON_0008114 joint of girdle http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/SYMP_0000786 generalized pelvic mass http://purl.obolibrary.org/obo/SYMP_0000772 pelvic mass http://purl.obolibrary.org/obo/SYMP_0000784 epigastric pelvic mass http://purl.obolibrary.org/obo/SYMP_0000772 pelvic mass http://purl.obolibrary.org/obo/DOID_0081201 autosomal recessive intellectual developmental disorder 35 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258. http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/SYMP_0000776 epigastric pelvic lump http://purl.obolibrary.org/obo/SYMP_0000773 pelvic lump http://purl.obolibrary.org/obo/DOID_0081202 autosomal recessive intellectual developmental disorder 37 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21. http://purl.obolibrary.org/obo/DOID_0081203 autosomal recessive intellectual developmental disorder 38 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13. http://purl.obolibrary.org/obo/UBERON_0000065 respiratory tract http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0001020 nervous system commissure http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/SYMP_0000802 epigastric abdominal mass http://purl.obolibrary.org/obo/SYMP_0000798 abdominal mass http://purl.obolibrary.org/obo/DOID_0081204 autosomal recessive intellectual developmental disorder 39 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12. http://purl.obolibrary.org/obo/UBERON_0011591 tract of diencephalon http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/SYMP_0000809 periumbilic abdominal lump http://purl.obolibrary.org/obo/SYMP_0000799 abdominal lump http://purl.obolibrary.org/obo/DOID_0081205 autosomal recessive intellectual developmental disorder 40 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24. http://purl.obolibrary.org/obo/UBERON_0002473 intercerebral commissure http://purl.obolibrary.org/obo/UBERON_0019294 commissure of telencephalon http://purl.obolibrary.org/obo/UBERON_0005970 brain commissure http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/SYMP_0000813 right upper quadrant abdominal lump http://purl.obolibrary.org/obo/SYMP_0000799 abdominal lump http://purl.obolibrary.org/obo/SYMP_0000158 spleen symptom http://purl.obolibrary.org/obo/SYMP_0019138 immune system symptom http://purl.obolibrary.org/obo/DOID_0081206 autosomal recessive intellectual developmental disorder 41 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. http://purl.obolibrary.org/obo/UBERON_0019294 commissure of telencephalon http://purl.obolibrary.org/obo/UBERON_0005970 brain commissure http://purl.obolibrary.org/obo/SYMP_0019141 lymphatic system symptom http://purl.obolibrary.org/obo/SYMP_0019138 immune system symptom http://purl.obolibrary.org/obo/SYMP_0000208 anemia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/DOID_0081207 autosomal recessive intellectual developmental disorder 43 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays. http://purl.obolibrary.org/obo/UBERON_0001322 sciatic nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/SYMP_0000634 leukocytosis http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/DOID_0081208 autosomal recessive intellectual developmental disorder 44 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25. http://purl.obolibrary.org/obo/DOID_0081209 autosomal recessive intellectual developmental disorder 45 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24. http://purl.obolibrary.org/obo/DOID_0081210 autosomal recessive intellectual developmental disorder 46 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. http://purl.obolibrary.org/obo/UBERON_0035642 laryngeal nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/SYMP_0019143 coagulopathy http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/DOID_0081211 autosomal recessive intellectual developmental disorder 47 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43. http://purl.obolibrary.org/obo/UBERON_0001027 sensory nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/SYMP_0000691 cytopenia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/DOID_0081212 autosomal recessive intellectual developmental disorder 48 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. http://purl.obolibrary.org/obo/UBERON_0003431 leg nerve http://purl.obolibrary.org/obo/UBERON_0003442 hindlimb nerve http://purl.obolibrary.org/obo/SYMP_0019148 septicemia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/UBERON_0003440 limb nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/DOID_0081213 autosomal recessive intellectual developmental disorder 50 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24. http://purl.obolibrary.org/obo/SYMP_0019146 hyponatremia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/UBERON_0003442 hindlimb nerve http://purl.obolibrary.org/obo/UBERON_0003440 limb nerve http://purl.obolibrary.org/obo/UBERON_0011779 nerve of head region http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/DOID_0081214 autosomal recessive intellectual developmental disorder 51 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. http://purl.obolibrary.org/obo/SYMP_0000182 bubo http://purl.obolibrary.org/obo/SYMP_0019155 lymphadenitis http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomy http://purl.obolibrary.org/obo/DOID_0081215 autosomal recessive intellectual developmental disorder 52 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. http://purl.obolibrary.org/obo/HP_0032465 Bladder trabeculation http://purl.obolibrary.org/obo/HP_0025487 Abnormal bladder morphology http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomy http://purl.obolibrary.org/obo/HP_0006561 Lipid accumulation in hepatocytes http://purl.obolibrary.org/obo/HP_0031137 Storage in hepatocytes http://purl.obolibrary.org/obo/DOID_0081216 autosomal recessive intellectual developmental disorder 54 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26. http://purl.obolibrary.org/obo/UBERON_0003379 cardiac muscle of right atrium http://purl.obolibrary.org/obo/UBERON_0004490 cardiac muscle tissue of atrium http://purl.obolibrary.org/obo/DOID_0081217 autosomal recessive intellectual developmental disorder 56 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31. http://purl.obolibrary.org/obo/NCBITaxon_15956 Phleum http://purl.obolibrary.org/obo/NCBITaxon_2948964 Phleinae http://purl.obolibrary.org/obo/UBERON_0004490 cardiac muscle tissue of atrium http://purl.obolibrary.org/obo/UBERON_0004493 cardiac muscle tissue of myocardium http://purl.obolibrary.org/obo/DOID_0081218 autosomal recessive intellectual developmental disorder 74 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. http://purl.obolibrary.org/obo/NCBITaxon_1678143 Paslahepevirus balayani http://purl.obolibrary.org/obo/NCBITaxon_2948857 Paslahepevirus http://purl.obolibrary.org/obo/DOID_0081219 autosomal recessive intellectual developmental disorder 57 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13. http://purl.obolibrary.org/obo/UBERON_0004493 cardiac muscle tissue of myocardium http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/NCBITaxon_766764 Debaryomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_2916678 Serinales http://purl.obolibrary.org/obo/DOID_0081220 autosomal recessive intellectual developmental disorder 58 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. http://purl.obolibrary.org/obo/UBERON_0010131 conducting tissue of heart http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/NCBITaxon_6937 Ornithodoros http://purl.obolibrary.org/obo/NCBITaxon_2945031 Ornithodorinae http://purl.obolibrary.org/obo/DOID_0081221 autosomal recessive intellectual developmental disorder 59 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_0081222 autosomal recessive intellectual developmental disorder 60 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13. http://purl.obolibrary.org/obo/UBERON_0003885 mesometrium http://purl.obolibrary.org/obo/UBERON_0002095 mesentery http://purl.obolibrary.org/obo/NCBITaxon_186541 Tai Forest ebolavirus http://purl.obolibrary.org/obo/NCBITaxon_3052461 Orthoebolavirus taiense http://purl.obolibrary.org/obo/DOID_0081223 glycosylphosphatidylinositol biosynthesis defect 16 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. http://purl.obolibrary.org/obo/NCBITaxon_206160 Sandfly fever Naples virus http://purl.obolibrary.org/obo/NCBITaxon_3052666 Phlebovirus napoliense http://purl.obolibrary.org/obo/UBERON_0004256 hindlimb zeugopod muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0081224 autosomal recessive intellectual developmental disorder 63 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32. http://purl.obolibrary.org/obo/UBERON_0012336 perianal skin http://purl.obolibrary.org/obo/UBERON_0001415 skin of pelvis http://purl.obolibrary.org/obo/NCBITaxon_2560602 Mumps orthorubulavirus http://purl.obolibrary.org/obo/NCBITaxon_3052560 Orthorubulavirus parotitidis http://purl.obolibrary.org/obo/DOID_0081225 autosomal recessive intellectual developmental disorder 64 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24. http://purl.obolibrary.org/obo/NCBITaxon_28292 sandfly fever Sicilian virus http://purl.obolibrary.org/obo/NCBITaxon_3052681 Phlebovirus siciliaense http://purl.obolibrary.org/obo/UBERON_0004088 orbital region http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/DOID_0081226 autosomal recessive intellectual developmental disorder 65 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32. http://purl.obolibrary.org/obo/UBERON_0019241 pedal digit 1 or 5 http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/CHEBI_47016 tetrahydrofuranone http://purl.obolibrary.org/obo/CHEBI_26912 oxolanes http://purl.obolibrary.org/obo/CHEBI_39410 1,2,4-triazines http://purl.obolibrary.org/obo/CHEBI_38102 triazines http://purl.obolibrary.org/obo/DOID_0081227 autosomal recessive intellectual developmental disorder 66 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. http://purl.obolibrary.org/obo/UBERON_0002446 patella http://purl.obolibrary.org/obo/UBERON_0011141 appendicular ossicle http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/CHEBI_45924 trimethoprim http://purl.obolibrary.org/obo/CHEBI_51683 methoxybenzenes http://purl.obolibrary.org/obo/UBERON_0002513 endochondral bone http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0002514 intramembranous bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_0081228 autosomal recessive intellectual developmental disorder 67 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15. http://purl.obolibrary.org/obo/CHEBI_33860 aromatic amine http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/CHEBI_50995 secondary amino compound http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound http://purl.obolibrary.org/obo/UBERON_0003457 head bone http://purl.obolibrary.org/obo/UBERON_0007914 bone of craniocervical region http://purl.obolibrary.org/obo/DOID_0081229 autosomal recessive intellectual developmental disorder 68 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13. http://purl.obolibrary.org/obo/CHEBI_50996 tertiary amino compound http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound http://purl.obolibrary.org/obo/UBERON_0003460 arm bone http://purl.obolibrary.org/obo/UBERON_0008962 forelimb bone http://purl.obolibrary.org/obo/DOID_0081230 autosomal recessive intellectual developmental disorder 69 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12. http://purl.obolibrary.org/obo/CHEBI_35467 phosphorodiamide http://purl.obolibrary.org/obo/CHEBI_17102 phosphoramide http://purl.obolibrary.org/obo/CHEBI_36683 organochlorine compound http://purl.obolibrary.org/obo/CHEBI_23117 chlorine molecular entity http://purl.obolibrary.org/obo/UBERON_0003461 shoulder bone http://purl.obolibrary.org/obo/UBERON_0010741 bone of pectoral complex http://purl.obolibrary.org/obo/DOID_0081231 autosomal recessive intellectual developmental disorder 70 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. http://purl.obolibrary.org/obo/UBERON_0003462 facial bone http://purl.obolibrary.org/obo/UBERON_0003457 head bone http://purl.obolibrary.org/obo/CHEBI_133004 bisbenzylisoquinoline alkaloid http://purl.obolibrary.org/obo/CHEBI_22750 benzylisoquinoline alkaloid http://purl.obolibrary.org/obo/DOID_0081232 autosomal recessive intellectual developmental disorder 71 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22. http://purl.obolibrary.org/obo/UBERON_0003464 hindlimb bone http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/CHEBI_16899 D-mannitol http://purl.obolibrary.org/obo/CHEBI_29864 mannitol http://purl.obolibrary.org/obo/DOID_0081233 autosomal recessive intellectual developmental disorder 73 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. http://purl.obolibrary.org/obo/UBERON_0003466 forelimb zeugopod bone http://purl.obolibrary.org/obo/UBERON_0003460 arm bone http://purl.obolibrary.org/obo/CHEBI_35681 secondary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol http://purl.obolibrary.org/obo/UBERON_0003826 upper leg bone http://purl.obolibrary.org/obo/UBERON_0005893 leg bone http://purl.obolibrary.org/obo/DOID_0081234 autosomal recessive intellectual developmental disorder 75 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. http://purl.obolibrary.org/obo/CHEBI_53018 2,4-dinitrophenyl group http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/UBERON_0004247 bone of dorsum http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/DOID_0081235 autosomal recessive intellectual developmental disorder 76 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. http://purl.obolibrary.org/obo/CHEBI_33859 aromatic carboxylic acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/UBERON_0004250 upper arm bone http://purl.obolibrary.org/obo/UBERON_0003460 arm bone http://purl.obolibrary.org/obo/DOID_0081236 autosomal recessive intellectual developmental disorder 77 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33709 amino acid http://purl.obolibrary.org/obo/UBERON_0004251 hindlimb zeugopod bone http://purl.obolibrary.org/obo/UBERON_0005893 leg bone http://purl.obolibrary.org/obo/DOID_0081237 acromesomelic dysplasia 3 http://purl.obolibrary.org/obo/DOID_0080049 acromesomelic dysplasia An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. http://purl.obolibrary.org/obo/CHEBI_15400 (-)-carvone http://purl.obolibrary.org/obo/CHEBI_38265 carvone http://purl.obolibrary.org/obo/UBERON_0004375 bone of free limb or fin http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/DOID_0081238 acromesomelic dysplasia 4 http://purl.obolibrary.org/obo/DOID_0080049 acromesomelic dysplasia An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. http://purl.obolibrary.org/obo/CHEBI_28593 quinidine http://purl.obolibrary.org/obo/CHEBI_51323 cinchona alkaloid http://purl.obolibrary.org/obo/UBERON_0004376 fin bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_0081239 injection anthrax http://purl.obolibrary.org/obo/DOID_7427 anthrax disease An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores. http://purl.obolibrary.org/obo/CHEBI_53213 diisocyanate http://purl.obolibrary.org/obo/CHEBI_53212 isocyanates http://purl.obolibrary.org/obo/UBERON_0004766 cranial bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_0081329 glycogen storage disease I http://purl.obolibrary.org/obo/DOID_2747 glycogen storage disease A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/UBERON_0004768 bone of lower jaw http://purl.obolibrary.org/obo/UBERON_0012360 bone of jaw http://purl.obolibrary.org/obo/DOID_0081368 Paget disease of bone 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/UBERON_0005893 leg bone http://purl.obolibrary.org/obo/UBERON_0003464 hindlimb bone http://purl.obolibrary.org/obo/DOID_0070527 Borrelia miyamotoi disease http://purl.obolibrary.org/obo/DOID_0050338 primary bacterial infectious disease A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. http://purl.obolibrary.org/obo/CL_4023154 myelinating glial cell http://purl.obolibrary.org/obo/CL_0000125 glial cell http://purl.obolibrary.org/obo/UBERON_0007842 membrane bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_0081426 autosomal recessive distal hereditary motor neuronopathy 7 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. http://purl.obolibrary.org/obo/UBERON_0007914 bone of craniocervical region http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell http://purl.obolibrary.org/obo/CL_0000219 motile cell http://purl.obolibrary.org/obo/DOID_0081427 autosomal recessive distal hereditary motor neuronopathy 8 http://purl.obolibrary.org/obo/DOID_0111197 autosomal recessive distal hereditary motor neuronopathy An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. http://purl.obolibrary.org/obo/UBERON_0008193 pneumatized bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/DOID_0060978 Fanconi anemia complementation group W http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23. http://purl.obolibrary.org/obo/UBERON_0008202 bone of hip region http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/CL_4052061 epidermal keratinocyte http://purl.obolibrary.org/obo/CL_0000362 epidermal cell http://purl.obolibrary.org/obo/DOID_0060979 Fanconi anemia complementation group S http://purl.obolibrary.org/obo/DOID_13636 Fanconi anemia A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/UBERON_0008907 dermal bone http://purl.obolibrary.org/obo/UBERON_0007842 membrane bone http://purl.obolibrary.org/obo/CL_2000029 central nervous system neuron http://purl.obolibrary.org/obo/CL_0000540 neuron http://purl.obolibrary.org/obo/DOID_0060980 polycystic liver disease 1 http://purl.obolibrary.org/obo/DOID_0050770 polycystic liver disease A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13. http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte http://purl.obolibrary.org/obo/DOID_0060981 mosaic variegated aneuploidy syndrome 4 http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. http://purl.obolibrary.org/obo/UBERON_0010741 bone of pectoral complex http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/CL_2000074 splenocyte http://purl.obolibrary.org/obo/CL_0000738 leukocyte http://purl.obolibrary.org/obo/DOID_0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition http://purl.obolibrary.org/obo/DOID_0080688 mosaic variegated aneuploidy syndrome A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. http://purl.obolibrary.org/obo/UBERON_0010742 bone of pelvic complex http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage http://purl.obolibrary.org/obo/DOID_0060983 sitosterolemia 2 http://purl.obolibrary.org/obo/DOID_0090019 sitosterolemia A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/CL_2000064 ovarian surface epithelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/UBERON_0012360 bone of jaw http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 http://purl.obolibrary.org/obo/DOID_0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2. http://purl.obolibrary.org/obo/DOID_10575 calcium metabolism disease http://purl.obolibrary.org/obo/DOID_0050032 mineral metabolism disease http://purl.obolibrary.org/obo/UBERON_0013630 short bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 http://purl.obolibrary.org/obo/DOID_0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3. http://purl.obolibrary.org/obo/DOID_2351 iron metabolism disease http://purl.obolibrary.org/obo/DOID_0050032 mineral metabolism disease http://purl.obolibrary.org/obo/UBERON_0001258 neck of urinary bladder http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/DOID_0070558 autosomal recessive spinocerebellar ataxia 34 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. http://purl.obolibrary.org/obo/DOID_2485 phosphorus metabolism disease http://purl.obolibrary.org/obo/DOID_0050032 mineral metabolism disease http://purl.obolibrary.org/obo/UBERON_0003831 respiratory system muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/DOID_0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 http://purl.obolibrary.org/obo/DOID_0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13. http://purl.obolibrary.org/obo/DOID_445 Bartter disease http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 gene on chromosome 1p34.2. http://purl.obolibrary.org/obo/DOID_1355 paranasal sinus lymphoma http://purl.obolibrary.org/obo/DOID_0060058 lymphoma http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/DOID_0070561 glucose transporter type 1 deficiency syndrome 1 http://purl.obolibrary.org/obo/DOID_0070560 glucose transporter type 1 deficiency syndrome A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. http://purl.obolibrary.org/obo/DOID_1357 maxillary sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/UBERON_0001675 trigeminal ganglion http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0012069 epithelium-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/DOID_0070562 Fanconi-Bickel syndrome http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2. http://purl.obolibrary.org/obo/DOID_1360 frontal sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/UBERON_0003830 thoracic segment muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0070563 glucose-galactose malabsorption http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3. http://purl.obolibrary.org/obo/DOID_1363 ethmoid sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/UBERON_0001813 spinal nerve plexus http://purl.obolibrary.org/obo/UBERON_0001810 nerve plexus http://purl.obolibrary.org/obo/DOID_0060996 poor metabolism of thiopurines 2 http://purl.obolibrary.org/obo/DOID_0080172 poor metabolism of thiopurines A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_14546 sphenoidal sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/UBERON_0001736 submandibular gland http://purl.obolibrary.org/obo/UBERON_0001829 major salivary gland http://purl.obolibrary.org/obo/DOID_0070617 rhabdoid tumor predisposition syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children. http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1352 paranasal sinus disease http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_0060998 striatal degeneration 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27. http://purl.obolibrary.org/obo/DOID_2598 laryngeal benign neoplasm http://purl.obolibrary.org/obo/DOID_786 laryngeal disease http://purl.obolibrary.org/obo/UBERON_0003498 heart blood vessel http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/DOID_0051042 autosomal dominant distal hereditary motor neuronopathy 15 http://purl.obolibrary.org/obo/DOID_0111198 autosomal dominant distal hereditary motor neuronopathy An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_3906 bronchial benign neoplasm http://purl.obolibrary.org/obo/DOID_1176 bronchial disease http://purl.obolibrary.org/obo/UBERON_0003501 retina blood vessel http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/DOID_0051043 Charcot-Marie-Tooth disease axonal type 2JJ http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_13110 bladder squamous papilloma http://purl.obolibrary.org/obo/DOID_0050623 bladder benign neoplasm http://purl.obolibrary.org/obo/UBERON_0003504 respiratory system blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_0051044 infantile-onset myofibrillar myopathy 12 with cardiomyopathy http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. http://purl.obolibrary.org/obo/DOID_14777 benign familial neonatal epilepsy http://purl.obolibrary.org/obo/DOID_0050702 neonatal period electroclinical syndrome http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_0051045 myofibrillar myopathy 13 with rimmed vacuoles http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_11312 Mobitz type II atrioventricular block http://purl.obolibrary.org/obo/DOID_0050822 second-degree atrioventricular block http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_0051046 spondyloepimetaphyseal dysplasia, Li-Shao-Li type http://purl.obolibrary.org/obo/DOID_0080027 spondyloepimetaphyseal dysplasia A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_13884 sick sinus syndrome http://purl.obolibrary.org/obo/DOID_0050824 sinoatrial node disease http://purl.obolibrary.org/obo/UBERON_0003514 limb blood vessel http://purl.obolibrary.org/obo/UBERON_0007301 appendage blood vessel http://purl.obolibrary.org/obo/DOID_0051047 congenital disorder of glycosylation type IIbb http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. http://purl.obolibrary.org/obo/DOID_11299 vertebral artery occlusion http://purl.obolibrary.org/obo/DOID_5976 occlusion precerebral artery http://purl.obolibrary.org/obo/UBERON_0003516 hindlimb blood vessel http://purl.obolibrary.org/obo/UBERON_0003514 limb blood vessel http://purl.obolibrary.org/obo/DOID_0051048 congenital disorder of glycosylation type IIr http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. http://purl.obolibrary.org/obo/DOID_13095 vertebral artery insufficiency http://purl.obolibrary.org/obo/DOID_225 syndrome http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_0051049 congenital disorder of glycosylation type IIt http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. http://purl.obolibrary.org/obo/DOID_13446 basilar artery occlusion http://purl.obolibrary.org/obo/DOID_5976 occlusion precerebral artery http://purl.obolibrary.org/obo/UBERON_0003834 thoracic segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/DOID_0051050 congenital disorder of glycosylation type IIv http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_14006 splenic artery aneurysm http://purl.obolibrary.org/obo/DOID_0050828 artery disease http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_0051051 congenital disorder of glycosylation type IIw http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_2388 renal artery disease http://purl.obolibrary.org/obo/DOID_0050828 artery disease http://purl.obolibrary.org/obo/UBERON_0007301 appendage blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_0051052 congenital disorder of glycosylation type IIy http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. http://purl.obolibrary.org/obo/DOID_3407 carotid artery disease http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_0051053 congenital disorder of glycosylation type IIz http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. http://purl.obolibrary.org/obo/DOID_3527 cerebral arterial disease http://purl.obolibrary.org/obo/DOID_13089 intracranial arterial disease http://purl.obolibrary.org/obo/DOID_116 pericardium cancer http://purl.obolibrary.org/obo/DOID_117 heart cancer http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/DOID_0051055 46,XY gonadal dysgenesis with minifascicular neuropathy http://purl.obolibrary.org/obo/DOID_14447 gonadal dysgenesis A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/DOID_0050851 glomerulosclerosis http://purl.obolibrary.org/obo/UBERON_0002293 costochondral joint http://purl.obolibrary.org/obo/UBERON_0002215 synchondrosis http://purl.obolibrary.org/obo/DOID_0061031 autosomal dominant intellectual developmental disorder 57 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_12705 Friedreich ataxia http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/DOID_0061032 autosomal dominant intellectual developmental disorder 58 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_10817 sexual sadism http://purl.obolibrary.org/obo/DOID_0060043 sexual health disorder http://purl.obolibrary.org/obo/UBERON_0007245 nuclear complex of neuraxis http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/UBERON_8600006 visceral striated muscle tissue http://purl.obolibrary.org/obo/DOID_0061033 autosomal dominant intellectual developmental disorder 59 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_10849 sexual masochism http://purl.obolibrary.org/obo/DOID_0060043 sexual health disorder http://purl.obolibrary.org/obo/UBERON_8600006 visceral striated muscle tissue http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/DOID_0061034 autosomal dominant intellectual developmental disorder 61 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_10834 voyeurism http://purl.obolibrary.org/obo/DOID_0060044 paraphilia disorder http://purl.obolibrary.org/obo/UBERON_0002200 vasculature of head http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/DOID_0061035 autosomal dominant intellectual developmental disorder 62 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_0061036 autosomal dominant intellectual developmental disorder 63 with macrocephaly http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_1235 fetishism http://purl.obolibrary.org/obo/DOID_0060044 paraphilia disorder http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/DOID_0061037 autosomal dominant intellectual developmental disorder 64 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14. http://purl.obolibrary.org/obo/DOID_13351 pedophilia http://purl.obolibrary.org/obo/DOID_0060044 paraphilia disorder http://purl.obolibrary.org/obo/UBERON_0004864 vasculature of retina http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/DOID_0061038 autosomal dominant intellectual developmental disorder 65 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_10540 gastric lymphoma http://purl.obolibrary.org/obo/DOID_10534 stomach cancer http://purl.obolibrary.org/obo/UBERON_0005629 vascular plexus http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/DOID_0061039 autosomal dominant intellectual developmental disorder 66 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. http://purl.obolibrary.org/obo/DOID_10813 nasal cavity lymphoma http://purl.obolibrary.org/obo/DOID_10811 nasal cavity cancer http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/DOID_1106 esophagus lymphoma http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer http://purl.obolibrary.org/obo/DOID_0061040 autosomal dominant intellectual developmental disorder 67 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33. http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/DOID_11241 appendix lymphoma http://purl.obolibrary.org/obo/DOID_11239 appendix cancer http://purl.obolibrary.org/obo/DOID_0061041 autosomal dominant intellectual developmental disorder 68 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/DOID_11821 bladder lymphoma http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_0061042 autosomal dominant intellectual developmental disorder 69 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11. http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/DOID_12001 tracheal lymphoma http://purl.obolibrary.org/obo/DOID_11920 tracheal cancer http://purl.obolibrary.org/obo/UBERON_0010391 parametrium http://purl.obolibrary.org/obo/UBERON_0003885 mesometrium http://purl.obolibrary.org/obo/DOID_0061043 autosomal dominant intellectual developmental disorder 70 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_12253 testicular lymphoma http://purl.obolibrary.org/obo/DOID_2998 testicular cancer http://purl.obolibrary.org/obo/UBERON_0002085 interatrial septum http://purl.obolibrary.org/obo/UBERON_0002099 cardiac septum http://purl.obolibrary.org/obo/DOID_0061044 autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_12339 retroperitoneal lymphoma http://purl.obolibrary.org/obo/DOID_5875 retroperitoneal cancer http://purl.obolibrary.org/obo/UBERON_0002094 interventricular septum http://purl.obolibrary.org/obo/UBERON_0002099 cardiac septum http://purl.obolibrary.org/obo/DOID_0061045 autosomal dominant intellectual developmental disorder 72 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13. http://purl.obolibrary.org/obo/DOID_13996 small intestine lymphoma http://purl.obolibrary.org/obo/DOID_10154 small intestine cancer http://purl.obolibrary.org/obo/UBERON_0005989 atrioventricular septum http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/DOID_0061046 autosomal dominant intellectual developmental disorder 73 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_14139 anus lymphoma http://purl.obolibrary.org/obo/DOID_14110 anus cancer http://purl.obolibrary.org/obo/UBERON_0002134 tricuspid valve http://purl.obolibrary.org/obo/UBERON_0005208 right atrium valve http://purl.obolibrary.org/obo/DOID_0061047 autosomal dominant intellectual developmental disorder 74 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_14489 ureteral lymphoma http://purl.obolibrary.org/obo/DOID_11819 ureter cancer http://purl.obolibrary.org/obo/UBERON_0001776 optic choroid http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/DOID_0061048 autosomal dominant intellectual developmental disorder 75 http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_1522 cecum lymphoma http://purl.obolibrary.org/obo/DOID_1521 cecum cancer http://purl.obolibrary.org/obo/UBERON_0002215 synchondrosis http://purl.obolibrary.org/obo/UBERON_0002213 cartilaginous joint http://purl.obolibrary.org/obo/DOID_0061049 autosomal dominant intellectual developmental disorder type FRA12A http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_1523 colon lymphoma http://purl.obolibrary.org/obo/DOID_219 colon cancer http://purl.obolibrary.org/obo/UBERON_0003685 cranial suture http://purl.obolibrary.org/obo/UBERON_0009198 craniofacial suture http://purl.obolibrary.org/obo/DOID_0061050 autosomal dominant intellectual developmental disorder 60 with seizures http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27. http://purl.obolibrary.org/obo/DOID_11624 penile benign neoplasm http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/UBERON_0009198 craniofacial suture http://purl.obolibrary.org/obo/UBERON_0002209 fibrous joint http://purl.obolibrary.org/obo/UBERON_0009623 spinal nerve root http://purl.obolibrary.org/obo/UBERON_0002211 nerve root http://purl.obolibrary.org/obo/UBERON_0011107 synovial joint of pelvic girdle http://purl.obolibrary.org/obo/UBERON_0008114 joint of girdle http://purl.obolibrary.org/obo/DOID_0061051 immunodeficiency 80 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13. http://purl.obolibrary.org/obo/DOID_916 liver benign neoplasm http://purl.obolibrary.org/obo/DOID_409 liver disease http://purl.obolibrary.org/obo/UBERON_0001820 sweat gland http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/DOID_0061052 immunodeficiency 81 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. http://purl.obolibrary.org/obo/DOID_501 central nervous system hemangioma http://purl.obolibrary.org/obo/DOID_255 hemangioma http://purl.obolibrary.org/obo/UBERON_0002107 liver http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/DOID_0061053 immunodeficiency 82 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_60006 benign vascular tumor http://purl.obolibrary.org/obo/DOID_0060091 cardiovascular organ benign neoplasm http://purl.obolibrary.org/obo/UBERON_0000409 serous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/DOID_0061054 immunodeficiency 84 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. http://purl.obolibrary.org/obo/DOID_166 melanotic neuroectodermal tumor http://purl.obolibrary.org/obo/DOID_0060094 bone benign neoplasm http://purl.obolibrary.org/obo/UBERON_0010047 oral gland http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/DOID_0061055 immunodeficiency 85 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/UBERON_0010243 merocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/DOID_0061056 immunodeficiency 86 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_4386 myofibroma http://purl.obolibrary.org/obo/DOID_0060123 connective tissue benign neoplasm http://purl.obolibrary.org/obo/UBERON_0012344 holocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/DOID_11151 cholecystolithiasis http://purl.obolibrary.org/obo/DOID_0060262 gallbladder disease http://purl.obolibrary.org/obo/DOID_11665 Patau syndrome http://purl.obolibrary.org/obo/DOID_0080014 chromosomal disease http://purl.obolibrary.org/obo/DOID_10488 imperforate anus http://purl.obolibrary.org/obo/DOID_3128 anus disease http://purl.obolibrary.org/obo/DOID_0061057 immunodeficiency 87 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/DOID_11044 gastroschisis http://purl.obolibrary.org/obo/DOID_0080015 physical disorder http://purl.obolibrary.org/obo/DOID_0061058 immunodeficiency 88 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21. http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/DOID_0061059 immunodeficiency 89 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_11367 congenital aphakia http://purl.obolibrary.org/obo/DOID_110 lens disease http://purl.obolibrary.org/obo/UBERON_0007771 epidermis gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0061060 immunodeficiency 90 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_14177 congenital hypogammaglobulinemia http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency http://purl.obolibrary.org/obo/UBERON_0008962 forelimb bone http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/DOID_0061061 immunodeficiency 91 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality http://purl.obolibrary.org/obo/DOID_863 nervous system disease http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia http://purl.obolibrary.org/obo/DOID_583 hemolytic anemia http://purl.obolibrary.org/obo/DOID_0061062 immunodeficiency 92 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16. http://purl.obolibrary.org/obo/UBERON_0001535 vertebral artery http://purl.obolibrary.org/obo/UBERON_0002458 spinal artery http://purl.obolibrary.org/obo/DOID_1260 parametritis http://purl.obolibrary.org/obo/DOID_1003 pelvic inflammatory disease http://purl.obolibrary.org/obo/DOID_0061063 immunodeficiency 93 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. http://purl.obolibrary.org/obo/UBERON_0002387 foot http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/DOID_11177 total internal ophthalmoplegia http://purl.obolibrary.org/obo/DOID_238 pupil disease http://purl.obolibrary.org/obo/DOID_0061064 immunodeficiency 94 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. http://purl.obolibrary.org/obo/UBERON_0002398 hand http://purl.obolibrary.org/obo/UBERON_0008785 upper limb segment http://purl.obolibrary.org/obo/DOID_11637 accommodative spasm http://purl.obolibrary.org/obo/DOID_10034 eye accommodation disease http://purl.obolibrary.org/obo/DOID_0061065 immunodeficiency 95 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. http://purl.obolibrary.org/obo/UBERON_0002336 corpus callosum http://purl.obolibrary.org/obo/UBERON_0005340 dorsal telencephalic commissure http://purl.obolibrary.org/obo/DOID_11638 presbyopia http://purl.obolibrary.org/obo/DOID_10034 eye accommodation disease http://purl.obolibrary.org/obo/DOID_0061066 immunodeficiency 96 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_0061067 immunodeficiency 97 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22. http://purl.obolibrary.org/obo/UBERON_0001677 sphenoid bone http://purl.obolibrary.org/obo/UBERON_0015060 sphenoid endochondral element http://purl.obolibrary.org/obo/DOID_12304 conjunctival pigmentation http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease http://purl.obolibrary.org/obo/UBERON_0002228 rib http://purl.obolibrary.org/obo/UBERON_0015019 rib endochondral element http://purl.obolibrary.org/obo/DOID_0061068 immunodeficiency 98 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_12305 Bloch-Sulzberger syndrome http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease http://purl.obolibrary.org/obo/UBERON_2001364 hemal spine http://purl.obolibrary.org/obo/UBERON_0004247 bone of dorsum http://purl.obolibrary.org/obo/DOID_0061069 immunodeficiency 99 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. http://purl.obolibrary.org/obo/DOID_12311 stromal corneal pigmentation http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease http://purl.obolibrary.org/obo/UBERON_0002165 endocardium http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/DOID_11028 pseudopterygium http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_0061070 immunodeficiency 100 http://purl.obolibrary.org/obo/DOID_850 lung disease A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_0061071 immunodeficiency 101 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/UBERON_0002470 autopod region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/DOID_0061072 immunodeficiency 102 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26. http://purl.obolibrary.org/obo/DOID_11547 corneal deposit http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0008785 upper limb segment http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/DOID_0061073 Perrault syndrome 7 http://purl.obolibrary.org/obo/DOID_0050857 Perrault syndrome A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_11552 Bowman's membrane folds or rupture http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/UBERON_0001044 saliva-secreting gland http://purl.obolibrary.org/obo/UBERON_0010047 oral gland http://purl.obolibrary.org/obo/DOID_0061074 severe combined immunodeficiency 105 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31. http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0061075 immunodeficiency 106 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_12753 corneal staphyloma http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0061076 immunodeficiency 107 http://purl.obolibrary.org/obo/DOID_850 lung disease A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_13447 corneal argyrosis http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/UBERON_0002419 skin gland http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/DOID_0061077 immunodeficiency 108 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_1436 corneal ectasia http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0061078 immunodeficiency 109 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_2566 corneal dystrophy http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0061079 immunodeficiency 112 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_10428 stable condition keratoconus http://purl.obolibrary.org/obo/DOID_10126 keratoconus http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0061080 immunodeficiency 114 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/DOID_11120 psychologic dyspareunia http://purl.obolibrary.org/obo/DOID_10132 psychosexual disorder http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0061081 immunodeficiency 115 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. http://purl.obolibrary.org/obo/DOID_13709 premature ejaculation http://purl.obolibrary.org/obo/DOID_10132 psychosexual disorder http://purl.obolibrary.org/obo/UBERON_0004859 eye gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0061082 immunodeficiency 116 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12. http://purl.obolibrary.org/obo/DOID_13868 hypoactive sexual desire disorder http://purl.obolibrary.org/obo/DOID_10132 psychosexual disorder http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0061083 immunodeficiency 117 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. http://purl.obolibrary.org/obo/DOID_11029 pinguecula http://purl.obolibrary.org/obo/DOID_10139 conjunctival degeneration http://purl.obolibrary.org/obo/UBERON_0006868 seminal fluid secreting gland http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/DOID_0061084 immunodeficiency 118 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. http://purl.obolibrary.org/obo/DOID_12895 keratoconjunctivitis sicca http://purl.obolibrary.org/obo/DOID_10140 dry eye syndrome http://purl.obolibrary.org/obo/UBERON_0015152 gland of ocular region http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/DOID_0061085 immunodeficiency 119 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. http://purl.obolibrary.org/obo/DOID_13499 jejunal cancer http://purl.obolibrary.org/obo/DOID_10154 small intestine cancer http://purl.obolibrary.org/obo/UBERON_0002389 finger http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/DOID_0061086 immunodeficiency 120 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_14202 adult dermatomyositis http://purl.obolibrary.org/obo/DOID_10223 dermatomyositis http://purl.obolibrary.org/obo/UBERON_0001466 toe http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/DOID_0061087 immunodeficiency 121 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_14203 childhood type dermatomyositis http://purl.obolibrary.org/obo/DOID_10223 dermatomyositis http://purl.obolibrary.org/obo/UBERON_0006048 digit 1 http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/DOID_0061088 immunodeficiency 122 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. http://purl.obolibrary.org/obo/DOID_13209 right bundle branch block http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/DOID_0061089 immunodeficiency 123 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33. http://purl.obolibrary.org/obo/DOID_14451 hyperkalemic periodic paralysis http://purl.obolibrary.org/obo/DOID_1029 familial periodic paralysis http://purl.obolibrary.org/obo/UBERON_0001707 nasal cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0061090 severe combined immunodeficiency 124 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_14452 hypokalemic periodic paralysis http://purl.obolibrary.org/obo/DOID_1029 familial periodic paralysis http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0061091 immunodeficiency 125 http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_13921 bacterial esophagitis http://purl.obolibrary.org/obo/DOID_11963 esophagitis http://purl.obolibrary.org/obo/UBERON_0003728 mediastinum http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0061092 immunodeficiency 127 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_1703 Richter's syndrome http://purl.obolibrary.org/obo/DOID_1040 chronic lymphocytic leukemia http://purl.obolibrary.org/obo/UBERON_0001179 peritoneal cavity http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/DOID_0061093 immunodeficiency 128 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. http://purl.obolibrary.org/obo/DOID_10442 hypopyon ulcer http://purl.obolibrary.org/obo/DOID_10443 hypopyon http://purl.obolibrary.org/obo/UBERON_0002402 pleural cavity http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/DOID_0061094 immunodeficiency 129 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14. http://purl.obolibrary.org/obo/DOID_10480 diaphragmatic eventration http://purl.obolibrary.org/obo/DOID_10481 diaphragm disease http://purl.obolibrary.org/obo/UBERON_0004704 bone fossa http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0061096 immunodeficiency 133 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_10536 malignant gastric granular cell tumor http://purl.obolibrary.org/obo/DOID_10534 stomach cancer http://purl.obolibrary.org/obo/UBERON_0004867 orbital cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0061097 immunodeficiency 132B http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_10544 pylorus cancer http://purl.obolibrary.org/obo/DOID_10534 stomach cancer http://purl.obolibrary.org/obo/UBERON_0013411 cranial cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0061098 Carpenter syndrome 1 http://purl.obolibrary.org/obo/DOID_0060234 Carpenter syndrome A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11. http://purl.obolibrary.org/obo/DOID_10547 pyloric antrum cancer http://purl.obolibrary.org/obo/DOID_10544 pylorus cancer http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_0061099 Carpenter syndrome 2 http://purl.obolibrary.org/obo/DOID_0060234 Carpenter syndrome A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. http://purl.obolibrary.org/obo/DOID_12678 hypercalcemia http://purl.obolibrary.org/obo/DOID_10575 calcium metabolism disease http://purl.obolibrary.org/obo/UBERON_0035014 functional part of brain http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_0061100 autosomal dominant primary microcephaly http://purl.obolibrary.org/obo/DOID_0070297 primary microcephaly A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation. http://purl.obolibrary.org/obo/DOID_12972 intrapelvic lymph node leukemic reticuloendotheliosis http://purl.obolibrary.org/obo/DOID_10619 lymph node cancer http://purl.obolibrary.org/obo/UBERON_0001898 hypothalamus http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_0061101 immunodeficiency 132A http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_1066 residual stage of open angle glaucoma http://purl.obolibrary.org/obo/DOID_1067 open-angle glaucoma http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_0061102 hypertrophic cardiomyopathy 27 http://purl.obolibrary.org/obo/DOID_0080326 familial hypertrophic cardiomyopathy A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. http://purl.obolibrary.org/obo/DOID_0061169 autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome http://purl.obolibrary.org/obo/DOID_0061170 autoinflammation, panniculitis, and dermatosis syndrome An autoinflammation, panniculitis, and dermatosis syndrome characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing that has_material_basis_in heterozygous dominant-negative mutation in the OTULIN gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_13520 neonatal infective mastitis http://purl.obolibrary.org/obo/DOID_10690 mastitis http://purl.obolibrary.org/obo/UBERON_0002099 cardiac septum http://purl.obolibrary.org/obo/UBERON_0003037 septum http://purl.obolibrary.org/obo/TRANS_0000013 vehicle-borne medical transmission http://purl.obolibrary.org/obo/TRANS_0000010 vehicle-borne transmission Vehicle-borne medical transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by biological products including: blood, serum, plasma, tissue, or organs. http://purl.obolibrary.org/obo/DOID_11520 benign hypertensive renal disease http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/UBERON_0001833 lip http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/SYMP_0000413 catatonia http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a marked psychomotor disturbance that may involve stupor or mutism, negativism, rigidity, purposeless excitement, echolalia, echopraxia, and inappropriate or bizarre posturing and is associated with various medical conditions (as schizophrenia and mood disorders). http://purl.obolibrary.org/obo/DOID_11664 nephrosclerosis http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/SYMP_0000606 nocturnal enuresis http://purl.obolibrary.org/obo/SYMP_0000492 urinary incontinence A urinary incontinence that is characterized by involuntary urination at night in children five years of age or older. http://purl.obolibrary.org/obo/DOID_13730 malignant renovascular hypertension http://purl.obolibrary.org/obo/DOID_13731 malignant secondary hypertension http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/SYMP_0000508 aphasia http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by a loss or impairment of the power to use or comprehend words usually resulting from brain damage. http://purl.obolibrary.org/obo/DOID_1591 renovascular hypertension http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/SYMP_0000374 scrotal abscess http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by an abscess that is either superficial or intrascrotal. Superficial scrotal abscess may occur from an infected hair follicle, infection of a scrotal laceration, or minor scrotal surgery. Intrascrotal abscess most commonly arises from bacterial epididymitis, but may also be related to tuberculous infection of the epididymis, a testicular abscess that ruptures through the tunica albuginea, or drainage of appendicitis into scrotum through a patent processus vaginalis or as a result of extravasation of infected urine from the urethra in patients with a urethral stricture and neurogenic bladder using an external collection device. http://purl.obolibrary.org/obo/DOID_3021 acute kidney failure http://purl.obolibrary.org/obo/DOID_1074 kidney failure http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/SYMP_0000423 pyrosis http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom From synonym: Heartburn is a pain characterized by a painful burning feeling in your chest or throat that happens when stomach acid backs up into your esophagus. http://purl.obolibrary.org/obo/DOID_11401 xanthogranulomatous pyelonephritis http://purl.obolibrary.org/obo/DOID_1076 chronic pyelonephritis http://purl.obolibrary.org/obo/UBERON_0002299 alveolus of lung http://purl.obolibrary.org/obo/UBERON_0003215 alveolus http://purl.obolibrary.org/obo/DOID_11130 secondary hypertension http://purl.obolibrary.org/obo/DOID_10763 hypertension http://purl.obolibrary.org/obo/SYMP_0000214 anomia http://purl.obolibrary.org/obo/SYMP_0000508 aphasia An aphasia that is characterized by a severe problem with recalling words or names. http://purl.obolibrary.org/obo/UBERON_0002351 sinoatrial node http://purl.obolibrary.org/obo/UBERON_0010131 conducting tissue of heart http://purl.obolibrary.org/obo/DOID_10812 nasal cavity olfactory neuroblastoma http://purl.obolibrary.org/obo/DOID_369 olfactory neuroblastoma http://purl.obolibrary.org/obo/SYMP_0000857 objective vertigo http://purl.obolibrary.org/obo/SYMP_0000399 vertigo A vertigo that is characterized by a sensation that the external world is revolving. http://purl.obolibrary.org/obo/UBERON_0001739 laryngeal cartilage http://purl.obolibrary.org/obo/UBERON_0011004 pharyngeal arch cartilage http://purl.obolibrary.org/obo/DOID_10823 malignant essential hypertension http://purl.obolibrary.org/obo/DOID_10825 essential hypertension http://purl.obolibrary.org/obo/DOID_0080173 bladder exstrophy-epispadias-cloacal exstrophy complex http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. http://purl.obolibrary.org/obo/UBERON_0001323 tibial nerve http://purl.obolibrary.org/obo/UBERON_0003431 leg nerve http://purl.obolibrary.org/obo/DOID_10913 benign essential hypertension http://purl.obolibrary.org/obo/DOID_10825 essential hypertension http://purl.obolibrary.org/obo/DOID_0110657 congenital myasthenic syndrome 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. http://purl.obolibrary.org/obo/UBERON_0001423 radius bone http://purl.obolibrary.org/obo/UBERON_0015001 radius endochondral element http://purl.obolibrary.org/obo/DOID_12897 submandibular gland disease http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_0110658 congenital myasthenic syndrome 15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. http://purl.obolibrary.org/obo/UBERON_0004087 vena cava http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/DOID_12899 benign lymphoepithelial lesion of salivary gland http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_0110659 congenital myasthenic syndrome 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. http://purl.obolibrary.org/obo/UBERON_0001673 central retinal vein http://purl.obolibrary.org/obo/UBERON_0009141 craniocervical region vein http://purl.obolibrary.org/obo/DOID_12901 necrotizing sialometaplasia http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_0110660 congenital myasthenic syndrome 12 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/DOID_12904 mucocele of salivary gland http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_0110661 congenital myasthenic syndrome 20 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/DOID_12905 sialolithiasis http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_0110662 congenital myasthenic syndrome 1B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. http://purl.obolibrary.org/obo/UBERON_0003221 phalanx http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/DOID_10864 partial third-nerve palsy http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/DOID_0110663 congenital myasthenic syndrome 1A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. http://purl.obolibrary.org/obo/UBERON_0000981 femur http://purl.obolibrary.org/obo/UBERON_0015052 femur endochondral element http://purl.obolibrary.org/obo/DOID_10866 total third-nerve palsy http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/DOID_0110664 congenital myasthenic syndrome 3C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. http://purl.obolibrary.org/obo/UBERON_0003663 hindlimb muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_10869 fourth cranial nerve palsy http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/DOID_0110665 congenital myasthenic syndrome 3B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. http://purl.obolibrary.org/obo/UBERON_0001383 muscle of leg http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/DOID_1091 tooth disease http://purl.obolibrary.org/obo/UBERON_0002491 lambdoid suture http://purl.obolibrary.org/obo/UBERON_0003685 cranial suture http://purl.obolibrary.org/obo/DOID_0110666 congenital myasthenic syndrome 3A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_11514 fissured tongue http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/UBERON_0001103 diaphragm http://purl.obolibrary.org/obo/UBERON_0003831 respiratory system muscle http://purl.obolibrary.org/obo/DOID_0110667 congenital myasthenic syndrome 5 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_13333 hypertrophy of tongue papillae http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/DOID_13500 hairy tongue http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/UBERON_0001091 calcareous tooth http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_0110668 congenital myasthenic syndrome 10 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_1456 glossitis http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/DOID_0110669 congenital myasthenic syndrome 14 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_8649 tongue cancer http://purl.obolibrary.org/obo/DOID_8618 oral cavity cancer http://purl.obolibrary.org/obo/UBERON_0007502 epithelial plexus http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/DOID_0110670 congenital myasthenic syndrome 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. http://purl.obolibrary.org/obo/DOID_1063 interstitial nephritis http://purl.obolibrary.org/obo/DOID_10952 nephritis http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/DOID_0110671 congenital myasthenic syndrome 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. http://purl.obolibrary.org/obo/DOID_10963 cholesteatoma of attic http://purl.obolibrary.org/obo/DOID_10964 cholesteatoma of middle ear http://purl.obolibrary.org/obo/UBERON_0006615 venous sinus http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/DOID_0110672 congenital myasthenic syndrome 21 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. http://purl.obolibrary.org/obo/DOID_10971 acute salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_10972 salpingo-oophoritis http://purl.obolibrary.org/obo/UBERON_0011004 pharyngeal arch cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_0110673 congenital myasthenic syndrome 19 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. http://purl.obolibrary.org/obo/DOID_12265 chronic salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_10972 salpingo-oophoritis http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/DOID_0110674 congenital myasthenic syndrome 17 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_13942 acute gonococcal salpingitis http://purl.obolibrary.org/obo/DOID_10973 acute salpingitis http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/DOID_0110675 congenital myasthenic syndrome 11 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_10972 salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_10974 oophoritis http://purl.obolibrary.org/obo/UBERON_0005208 right atrium valve http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/DOID_0110676 congenital myasthenic syndrome 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_11364 lens subluxation http://purl.obolibrary.org/obo/DOID_110 lens disease http://purl.obolibrary.org/obo/UBERON_0004014 labium minora http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0004085 labium majora http://purl.obolibrary.org/obo/UBERON_0004084 genital labium http://purl.obolibrary.org/obo/DOID_0110677 congenital myasthenic syndrome 4B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_11031 bullous keratopathy http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/UBERON_0000159 anal canal http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0110678 congenital myasthenic syndrome 4A http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_11032 secondary corneal edema http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/UBERON_0003959 rete testis http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_0110679 congenital myasthenic syndrome 4C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_11033 idiopathic corneal edema http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0110680 congenital myasthenic syndrome 2C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_11034 contact lens corneal edema http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0110681 congenital myasthenic syndrome 2A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_11593 bladder lateral wall cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0110682 congenital myasthenic syndrome 16 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. http://purl.obolibrary.org/obo/DOID_11809 bladder neck cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/UBERON_0001352 external acoustic meatus http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0110683 developmental and epileptic encephalopathy 117 http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A developmental and epileptic encephalopathy that is characterized by global developmental delay, hypotonia, delayed walking or inability to walk, and variably impaired intellectual development with poor or absent speech and that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. http://purl.obolibrary.org/obo/DOID_11811 urinary bladder posterior wall cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/UBERON_0005744 bone foramen http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0110698 hypotrichosis 1 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22. http://purl.obolibrary.org/obo/DOID_11813 bladder trigone cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_11814 urinary bladder anterior wall cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/UBERON_0011859 internal acoustic meatus http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_0110699 hypotrichosis 2 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33. http://purl.obolibrary.org/obo/DOID_11817 urachus cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/UBERON_0002367 prostate gland http://purl.obolibrary.org/obo/UBERON_0010147 male accessory sex gland http://purl.obolibrary.org/obo/DOID_0110700 hypotrichosis 3 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_11820 bladder dome cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/UBERON_0000056 ureter http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_0110701 hypotrichosis 4 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. http://purl.obolibrary.org/obo/DOID_1677 low implantation of placenta http://purl.obolibrary.org/obo/DOID_11060 placenta praevia http://purl.obolibrary.org/obo/UBERON_0000948 heart http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_0110702 hypotrichosis 5 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. http://purl.obolibrary.org/obo/DOID_11282 solar retinopathy http://purl.obolibrary.org/obo/DOID_11086 chorioretinal scar http://purl.obolibrary.org/obo/UBERON_0000989 penis http://purl.obolibrary.org/obo/UBERON_0008811 intromittent organ http://purl.obolibrary.org/obo/DOID_0110703 hypotrichosis 6 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. http://purl.obolibrary.org/obo/DOID_11283 peripheral scars of retina http://purl.obolibrary.org/obo/DOID_11086 chorioretinal scar http://purl.obolibrary.org/obo/UBERON_0000996 vagina http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/DOID_0110704 hypotrichosis 7 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/UBERON_0000998 seminal vesicle http://purl.obolibrary.org/obo/UBERON_0006868 seminal fluid secreting gland http://purl.obolibrary.org/obo/UBERON_0003889 fallopian tube http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_0110705 hypotrichosis 8 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2. http://purl.obolibrary.org/obo/DOID_13143 benign secondary hypertension http://purl.obolibrary.org/obo/DOID_11130 secondary hypertension http://purl.obolibrary.org/obo/DOID_0110706 hypotrichosis 9 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. http://purl.obolibrary.org/obo/UBERON_0006589 round ligament of uterus http://purl.obolibrary.org/obo/UBERON_0008845 nonskeletal ligament http://purl.obolibrary.org/obo/DOID_13731 malignant secondary hypertension http://purl.obolibrary.org/obo/DOID_11130 secondary hypertension http://purl.obolibrary.org/obo/DOID_11133 prostatic cyst http://purl.obolibrary.org/obo/DOID_11132 prostatic hypertrophy http://purl.obolibrary.org/obo/DOID_0110707 hypotrichosis 10 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. http://purl.obolibrary.org/obo/UBERON_0001533 subclavian artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/DOID_13206 nodular prostate http://purl.obolibrary.org/obo/DOID_11132 prostatic hypertrophy http://purl.obolibrary.org/obo/DOID_0110708 hypotrichosis 11 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1. http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/DOID_14152 spinal cord sarcoma http://purl.obolibrary.org/obo/DOID_5612 spinal cancer http://purl.obolibrary.org/obo/DOID_0110709 hypotrichosis 12 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2. http://purl.obolibrary.org/obo/UBERON_0000966 retina http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/DOID_11203 Angelucci's syndrome http://purl.obolibrary.org/obo/DOID_11204 allergic conjunctivitis http://purl.obolibrary.org/obo/DOID_0110710 hypotrichosis 13 http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/UBERON_0001017 central nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_12537 hypermobility of coccyx http://purl.obolibrary.org/obo/DOID_1123 spondyloarthropathy http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/DOID_6590 spondylitis http://purl.obolibrary.org/obo/DOID_1123 spondyloarthropathy http://purl.obolibrary.org/obo/UBERON_2000364 hypural http://purl.obolibrary.org/obo/UBERON_2001364 hemal spine http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0008789 cranial fossa http://purl.obolibrary.org/obo/UBERON_0004704 bone fossa http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/DOID_11246 DIC in newborn http://purl.obolibrary.org/obo/DOID_11247 disseminated intravascular coagulation http://purl.obolibrary.org/obo/DOID_0110711 congenital hypotrichosis with juvenile macular dystrophy http://purl.obolibrary.org/obo/DOID_4535 hypotrichosis A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_1129 pituitary apoplexy http://purl.obolibrary.org/obo/DOID_1130 pituitary infarct http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_0110714 congenital stationary night blindness 1G http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_13402 skin sarcoidosis http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/DOID_0110715 congenital stationary night blindness autosomal dominant 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. http://purl.obolibrary.org/obo/DOID_13407 hypercalcemic sarcoidosis http://purl.obolibrary.org/obo/DOID_11335 sarcoidosis http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/DOID_11343 scleral disease http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like structure http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_0110862 congenital stationary night blindness autosomal dominant 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. http://purl.obolibrary.org/obo/UBERON_0004756 dermal skeletal element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_13452 scleritis http://purl.obolibrary.org/obo/DOID_11343 scleral disease http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_0110863 congenital stationary night blindness autosomal dominant 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. http://purl.obolibrary.org/obo/DOID_11354 stone in bladder diverticulum http://purl.obolibrary.org/obo/DOID_11353 bladder diverticulum http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_0110864 congenital stationary night blindness 1F http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. http://purl.obolibrary.org/obo/DOID_12087 deep corneal vascularisation http://purl.obolibrary.org/obo/DOID_11382 corneal neovascularization http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_0110865 congenital stationary night blindness 1B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. http://purl.obolibrary.org/obo/UBERON_0004742 dentary http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_1138 spinal meningioma http://purl.obolibrary.org/obo/DOID_3565 meningioma http://purl.obolibrary.org/obo/DOID_0110866 congenital stationary night blindness 1H http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/DOID_1076 chronic pyelonephritis http://purl.obolibrary.org/obo/DOID_11400 pyelonephritis http://purl.obolibrary.org/obo/DOID_0110867 congenital stationary night blindness 1C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. http://purl.obolibrary.org/obo/DOID_0110868 congenital stationary night blindness 1D http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22. http://purl.obolibrary.org/obo/DOID_1142 alternating exotropia http://purl.obolibrary.org/obo/DOID_1143 exotropia http://purl.obolibrary.org/obo/UBERON_0000059 large intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0110869 congenital stationary night blindness 1E http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_11853 monocular exotropia http://purl.obolibrary.org/obo/DOID_1143 exotropia http://purl.obolibrary.org/obo/UBERON_0000160 intestine http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0000165 mouth http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0000945 stomach http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0001052 rectum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_11488 idiopathic peripheral autonomic neuropathy http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease http://purl.obolibrary.org/obo/DOID_0110870 congenital stationary night blindness 1A http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. http://purl.obolibrary.org/obo/DOID_0110871 congenital stationary night blindness 2A http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. http://purl.obolibrary.org/obo/UBERON_0001155 colon http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_11504 autonomic neuropathy http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease http://purl.obolibrary.org/obo/DOID_0110872 holoprosencephaly 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. http://purl.obolibrary.org/obo/UBERON_0002108 small intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0110873 holoprosencephaly 9 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. http://purl.obolibrary.org/obo/DOID_3223 complex regional pain syndrome http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease http://purl.obolibrary.org/obo/UBERON_0002114 duodenum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_0110874 holoprosencephaly 6 http://purl.obolibrary.org/obo/DOID_4621 holoprosencephaly A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. http://purl.obolibrary.org/obo/DOID_11503 diabetic autonomic neuropathy http://purl.obolibrary.org/obo/DOID_11504 autonomic neuropathy http://purl.obolibrary.org/obo/UBERON_0002115 jejunum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_0110875 holoprosencephaly 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. http://purl.obolibrary.org/obo/DOID_12307 anterior corneal pigmentation http://purl.obolibrary.org/obo/DOID_11547 corneal deposit http://purl.obolibrary.org/obo/UBERON_0002116 ileum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_0110876 holoprosencephaly 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. http://purl.obolibrary.org/obo/DOID_13448 posterior corneal pigmentation http://purl.obolibrary.org/obo/DOID_11547 corneal deposit http://purl.obolibrary.org/obo/UBERON_0006562 pharynx http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_0110877 holoprosencephaly 11 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. http://purl.obolibrary.org/obo/DOID_11914 gastroparesis http://purl.obolibrary.org/obo/DOID_1159 functional gastric disease http://purl.obolibrary.org/obo/UBERON_0000168 proximal-distal subdivision of colon http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_0110878 holoprosencephaly 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. http://purl.obolibrary.org/obo/DOID_8439 postgastrectomy syndrome http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/DOID_0110879 holoprosencephaly 8 http://purl.obolibrary.org/obo/DOID_4621 holoprosencephaly A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. http://purl.obolibrary.org/obo/DOID_11594 ring staphyloma http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/DOID_0110880 holoprosencephaly 4 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_13787 localized anterior staphyloma http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0110881 holoprosencephaly 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. http://purl.obolibrary.org/obo/DOID_13788 equatorial staphyloma http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/UBERON_0002523 tunica intima http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0110882 inflammatory bowel disease 7 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. http://purl.obolibrary.org/obo/DOID_13789 staphyloma posticum http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/UBERON_0005358 ventricle of nervous system http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0110883 inflammatory bowel disease 17 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. http://purl.obolibrary.org/obo/DOID_12246 histoplasmosis meningitis http://purl.obolibrary.org/obo/DOID_11608 fungal meningitis http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0110884 inflammatory bowel disease 23 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. http://purl.obolibrary.org/obo/DOID_11839 glans penis cancer http://purl.obolibrary.org/obo/DOID_11615 penile cancer http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0110885 inflammatory bowel disease 10 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_11988 conjunctival concretion http://purl.obolibrary.org/obo/DOID_11653 conjunctival deposit http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0110886 inflammatory bowel disease 9 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. http://purl.obolibrary.org/obo/DOID_1171 hyperlipoproteinemia type V http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia http://purl.obolibrary.org/obo/UBERON_0018260 layer of muscle tissue http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0110887 inflammatory bowel disease 12 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3. http://purl.obolibrary.org/obo/DOID_1172 hyperlipoproteinemia type IV http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia http://purl.obolibrary.org/obo/UBERON_0022351 parietal serous membrane http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_0110888 inflammatory bowel disease 18 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. http://purl.obolibrary.org/obo/DOID_13809 familial combined hyperlipidemia http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia http://purl.obolibrary.org/obo/UBERON_0034933 layer of smooth muscle tissue http://purl.obolibrary.org/obo/UBERON_0018260 layer of muscle tissue http://purl.obolibrary.org/obo/DOID_0110889 inflammatory bowel disease 5 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. http://purl.obolibrary.org/obo/DOID_14535 malignant cardiac germ cell tumor http://purl.obolibrary.org/obo/DOID_117 heart cancer http://purl.obolibrary.org/obo/UBERON_0006810 olecranon http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/DOID_0110890 inflammatory bowel disease 19 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. http://purl.obolibrary.org/obo/DOID_11781 regular astigmatism http://purl.obolibrary.org/obo/DOID_11782 astigmatism http://purl.obolibrary.org/obo/UBERON_0001437 epiphysis http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/DOID_0110891 inflammatory bowel disease 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. http://purl.obolibrary.org/obo/DOID_13919 irregular astigmatism http://purl.obolibrary.org/obo/DOID_11782 astigmatism http://purl.obolibrary.org/obo/UBERON_0001438 metaphysis http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/DOID_0110892 inflammatory bowel disease 1 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. http://purl.obolibrary.org/obo/DOID_11829 degenerative myopia http://purl.obolibrary.org/obo/DOID_11830 myopia http://purl.obolibrary.org/obo/UBERON_0001300 scrotum http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/DOID_0110893 inflammatory bowel disease 13 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. http://purl.obolibrary.org/obo/DOID_10966 lipoid nephrosis http://purl.obolibrary.org/obo/DOID_1184 nephrotic syndrome http://purl.obolibrary.org/obo/UBERON_0005352 spermatic cord http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/DOID_0110894 inflammatory bowel disease 11 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. http://purl.obolibrary.org/obo/DOID_12526 tarsal tunnel syndrome http://purl.obolibrary.org/obo/DOID_1187 tibial neuropathy http://purl.obolibrary.org/obo/UBERON_0009853 body of uterus http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/DOID_0110895 inflammatory bowel disease 14 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. http://purl.obolibrary.org/obo/DOID_1187 tibial neuropathy http://purl.obolibrary.org/obo/DOID_1188 mononeuropathy http://purl.obolibrary.org/obo/UBERON_0011374 prepuce http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/DOID_0110896 inflammatory bowel disease 16 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. http://purl.obolibrary.org/obo/DOID_12171 radial neuropathy http://purl.obolibrary.org/obo/DOID_1188 mononeuropathy http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_0110897 inflammatory bowel disease 15 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. http://purl.obolibrary.org/obo/DOID_11888 schwannoma of ureter http://purl.obolibrary.org/obo/DOID_956 peripheral nerve schwannoma http://purl.obolibrary.org/obo/UBERON_0012337 cauda equina http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_0110898 inflammatory bowel disease 20 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. http://purl.obolibrary.org/obo/DOID_13147 fungal esophagitis http://purl.obolibrary.org/obo/DOID_1564 fungal infectious disease http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_0110899 inflammatory bowel disease 28 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. http://purl.obolibrary.org/obo/DOID_13976 peptic esophagitis http://purl.obolibrary.org/obo/DOID_11963 esophagitis http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_0110900 inflammatory bowel disease 2 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. http://purl.obolibrary.org/obo/DOID_1742 drug psychosis http://purl.obolibrary.org/obo/DOID_1203 drug-induced mental disorder http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_0110901 inflammatory bowel disease 26 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. http://purl.obolibrary.org/obo/DOID_12574 posterior uveitis http://purl.obolibrary.org/obo/DOID_12030 panuveitis http://purl.obolibrary.org/obo/UBERON_0001774 skeletal muscle of trunk http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0110902 inflammatory bowel disease 27 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3. http://purl.obolibrary.org/obo/DOID_1407 anterior uveitis http://purl.obolibrary.org/obo/DOID_12030 panuveitis http://purl.obolibrary.org/obo/UBERON_0000965 lens of camera-type eye http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/DOID_0110903 inflammatory bowel disease 4 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. http://purl.obolibrary.org/obo/DOID_13329 toxic optic neuropathy http://purl.obolibrary.org/obo/DOID_1210 optic neuritis http://purl.obolibrary.org/obo/UBERON_0010145 paraurethral gland http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/DOID_0110904 inflammatory bowel disease 8 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. http://purl.obolibrary.org/obo/DOID_14155 acute retrobulbar neuritis http://purl.obolibrary.org/obo/DOID_1210 optic neuritis http://purl.obolibrary.org/obo/UBERON_0011826 vestibular gland http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/DOID_0110905 inflammatory bowel disease 22 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. http://purl.obolibrary.org/obo/DOID_12162 pseudoretinitis pigmentosa http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/UBERON_0010147 male accessory sex gland http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/DOID_0110906 inflammatory bowel disease 21 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. http://purl.obolibrary.org/obo/DOID_12163 senile reticular retinal degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/DOID_0110907 inflammatory bowel disease 6 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. http://purl.obolibrary.org/obo/DOID_12164 Blessig's cysts http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/DOID_12165 retinal lattice degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_0110908 inflammatory bowel disease 24 http://purl.obolibrary.org/obo/DOID_0050589 inflammatory bowel disease An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/UBERON_0005744 bone foramen http://purl.obolibrary.org/obo/DOID_12166 cobblestone retinal degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_0110909 inflammatory bowel disease 25 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/DOID_12167 secondary vitreoretinal degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_0110913 adult hypophosphatasia http://purl.obolibrary.org/obo/DOID_14213 hypophosphatasia A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/UBERON_0005913 zone of bone organ http://purl.obolibrary.org/obo/DOID_12170 radial nerve lesion http://purl.obolibrary.org/obo/DOID_12171 radial neuropathy http://purl.obolibrary.org/obo/DOID_0110914 infantile hypophosphatasia http://purl.obolibrary.org/obo/DOID_14213 hypophosphatasia A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. http://purl.obolibrary.org/obo/UBERON_0001463 thumb http://purl.obolibrary.org/obo/UBERON_0019231 manual digit 1 or 5 http://purl.obolibrary.org/obo/DOID_12175 dyshormonogenic goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/DOID_0110915 childhood hypophosphatasia http://purl.obolibrary.org/obo/DOID_14213 hypophosphatasia A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12. http://purl.obolibrary.org/obo/UBERON_0003631 big toe http://purl.obolibrary.org/obo/UBERON_0019241 pedal digit 1 or 5 http://purl.obolibrary.org/obo/DOID_13195 nontoxic goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/DOID_0110916 hereditary spherocytosis type 1 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/UBERON_0000978 leg http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/DOID_13196 lingual goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/DOID_0110917 hereditary spherocytosis type 2 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. http://purl.obolibrary.org/obo/UBERON_0005486 venous dural sinus http://purl.obolibrary.org/obo/UBERON_0006615 venous sinus http://purl.obolibrary.org/obo/DOID_13197 nodular goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/DOID_0110918 hereditary spherocytosis type 3 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. http://purl.obolibrary.org/obo/DOID_13200 substernal goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/UBERON_0013141 capillary bed http://purl.obolibrary.org/obo/UBERON_0007502 epithelial plexus http://purl.obolibrary.org/obo/DOID_0110919 hereditary spherocytosis type 4 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_12191 splenic flexure cancer http://purl.obolibrary.org/obo/DOID_12190 descending colon cancer http://purl.obolibrary.org/obo/UBERON_0001810 nerve plexus http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/DOID_0110920 hereditary spherocytosis type 5 http://purl.obolibrary.org/obo/DOID_12971 hereditary spherocytosis A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. http://purl.obolibrary.org/obo/DOID_11245 transient neonatal neutropenia http://purl.obolibrary.org/obo/DOID_1227 neutropenia http://purl.obolibrary.org/obo/UBERON_1100000 digestive tract junction http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/DOID_0110921 familial hemophagocytic lymphohistiocytosis 1 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. http://purl.obolibrary.org/obo/DOID_12325 kyphoscoliotic heart disease http://purl.obolibrary.org/obo/DOID_12326 chronic pulmonary heart disease http://purl.obolibrary.org/obo/UBERON_0003406 cartilage of respiratory system http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_0110922 familial hemophagocytic lymphohistiocytosis 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/DOID_14096 infertility due to extratesticular cause http://purl.obolibrary.org/obo/DOID_12336 male infertility http://purl.obolibrary.org/obo/UBERON_0003933 cranial cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_0110923 familial hemophagocytic lymphohistiocytosis 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_1233 transvestism http://purl.obolibrary.org/obo/DOID_1235 fetishism http://purl.obolibrary.org/obo/UBERON_0011135 intervertebral cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_0110924 familial hemophagocytic lymphohistiocytosis 4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. http://purl.obolibrary.org/obo/DOID_12362 thyrotoxic exophthalmos http://purl.obolibrary.org/obo/DOID_12359 endocrine exophthalmos http://purl.obolibrary.org/obo/UBERON_0001465 knee http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/DOID_0110925 familial hemophagocytic lymphohistiocytosis 5 http://purl.obolibrary.org/obo/DOID_0050177 monogenic disease A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_11164 band keratopathy http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/UBERON_0011136 ligament of vertebral column http://purl.obolibrary.org/obo/UBERON_0008846 skeletal ligament http://purl.obolibrary.org/obo/CHEBI_138015 endocrine disruptor http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver Any compound that can disrupt the functions of the endocrine (hormone) system. http://purl.obolibrary.org/obo/DOID_11267 keratomalacia http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/UBERON_0001705 nail http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/NCIT_C391 Copper http://purl.obolibrary.org/obo/CHEBI_33284 nutrient An element with atomic symbol Cu, atomic number 29, and atomic weight 63. http://purl.obolibrary.org/obo/DOID_0080354 Phelan-McDermid syndrome http://purl.obolibrary.org/obo/DOID_0060388 chromosomal deletion syndrome A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. http://purl.obolibrary.org/obo/DOID_0080355 hepatobiliary system cancer http://purl.obolibrary.org/obo/DOID_3119 gastrointestinal system cancer A gastrointestinal system cancer that is located_in the hepatobiliary system. http://purl.obolibrary.org/obo/DOID_11342 arcus senilis http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/UBERON_0000916 abdomen http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/DOID_0080356 IgG4-related disease http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. http://purl.obolibrary.org/obo/DOID_11541 recurrent corneal erosion http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/UBERON_0002356 perineum http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/DOID_0080357 mitochondrial complex IV deficiency nuclear type 2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_0080358 mitochondrial complex IV deficiency nuclear type 6 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. http://purl.obolibrary.org/obo/DOID_0080359 mitochondrial complex IV deficiency nuclear type 9 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. http://purl.obolibrary.org/obo/DOID_11793 phthisical cornea http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/UBERON_0001153 caecum http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/DOID_0080360 mitochondrial complex IV deficiency nuclear type 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_14507 peripheral degeneration of cornea http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/UBERON_0001160 fundus of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_0080361 trimethylaminuria http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by the inability to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. http://purl.obolibrary.org/obo/DOID_12395 spastic entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/UBERON_0001162 cardia of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_0080362 X-linked spondyloepiphyseal dysplasia tarda http://purl.obolibrary.org/obo/DOID_0112284 spondyloepiphyseal dysplasia tarda A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_12836 senile entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/UBERON_0001165 pyloric antrum http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_0080363 mitochondrial pyruvate carrier deficiency http://purl.obolibrary.org/obo/DOID_700 mitochondrial metabolism disease A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. http://purl.obolibrary.org/obo/DOID_13112 mechanical entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/UBERON_0001166 pylorus http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_0080365 endometrial hyperplasia http://purl.obolibrary.org/obo/DOID_0060095 uterine benign neoplasm An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. http://purl.obolibrary.org/obo/DOID_13113 cicatricial entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/UBERON_0000964 cornea http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/DOID_1241 luxation of globe http://purl.obolibrary.org/obo/DOID_1242 globe disease http://purl.obolibrary.org/obo/DOID_0080366 desmoid tumor http://purl.obolibrary.org/obo/DOID_0060123 connective tissue benign neoplasm A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_14070 vestibular nystagmus http://purl.obolibrary.org/obo/DOID_1242 globe disease http://purl.obolibrary.org/obo/DOID_0080367 chronic eosinophilic leukemia http://purl.obolibrary.org/obo/DOID_1036 chronic leukemia A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_14199 posterior dislocation of lens http://purl.obolibrary.org/obo/DOID_1242 globe disease http://purl.obolibrary.org/obo/DOID_0080368 sex cord-stromal benign neoplasm http://purl.obolibrary.org/obo/DOID_0050622 reproductive organ benign neoplasm A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. http://purl.obolibrary.org/obo/DOID_0080369 ovarian sex-cord stromal tumor http://purl.obolibrary.org/obo/DOID_192 sex cord-gonadal stromal tumor A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_12465 secondary hyperparathyroidism of renal origin http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_0080370 ovarian sex cord-stromal benign neoplasm http://purl.obolibrary.org/obo/DOID_0080368 sex cord-stromal benign neoplasm A sex cord-stromal benign neoplasm that arises from the ovary. http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_2213 hemorrhagic disease http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease http://purl.obolibrary.org/obo/DOID_0080371 testicular sex cord-stromal benign neoplasm http://purl.obolibrary.org/obo/DOID_0080368 sex cord-stromal benign neoplasm A sex cord-stromal benign neoplasm that arises from the testis. http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0003947 brain ventricle/choroid plexus http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_11446 sciatic neuropathy http://purl.obolibrary.org/obo/DOID_12528 lesion of sciatic nerve http://purl.obolibrary.org/obo/DOID_0080372 epithelioid inflammatory myofibroblastic sarcoma http://purl.obolibrary.org/obo/DOID_0050905 inflammatory myofibroblastic tumor An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. http://purl.obolibrary.org/obo/DOID_0080373 epididymis disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease A male reproductive system disease that is located_in the epididymis. http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_1829 urethral stricture http://purl.obolibrary.org/obo/DOID_12577 urethral obstruction http://purl.obolibrary.org/obo/DOID_0080597 Kleefstra syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_14099 acquired gastric outlet stenosis http://purl.obolibrary.org/obo/DOID_12639 pyloric stenosis http://purl.obolibrary.org/obo/DOID_0080598 Kleefstra syndrome 2 http://purl.obolibrary.org/obo/DOID_0080597 Kleefstra syndrome A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_12641 displacement of cardia through esophageal hiatus http://purl.obolibrary.org/obo/DOID_12642 hiatus hernia http://purl.obolibrary.org/obo/DOID_0080600 COVID-19 http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum. http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_12668 abnormal retinal correspondence http://purl.obolibrary.org/obo/DOID_12667 binocular vision disease http://purl.obolibrary.org/obo/DOID_0080601 germ cell benign neoplasm http://purl.obolibrary.org/obo/DOID_0060084 cell type benign neoplasm A benign neoplasm that derives_from germ cells. http://purl.obolibrary.org/obo/DOID_0111593 distal arthrogryposis type 10 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. http://purl.obolibrary.org/obo/DOID_0111594 distal arthrogryposis type 5D http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. http://purl.obolibrary.org/obo/DOID_0111595 congenital contractural arachnodactyly http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_1278 tolosa-hunt syndrome http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies. http://purl.obolibrary.org/obo/UBERON_0034978 paraganglion (generic) http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/DOID_539 ophthalmoplegia http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/DOID_0111597 distal arthrogryposis type 1A http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. http://purl.obolibrary.org/obo/DOID_0111598 distal arthrogryposis type 1B http://purl.obolibrary.org/obo/DOID_0111596 distal arthrogryposis type 1 A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. http://purl.obolibrary.org/obo/DOID_9650 pathologic nystagmus http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/UBERON_0010011 collection of basal ganglia http://purl.obolibrary.org/obo/UBERON_0010009 aggregate regional part of brain http://purl.obolibrary.org/obo/DOID_0111600 distal arthrogryposis type 2B1 http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_13662 ulcer of anus and rectum http://purl.obolibrary.org/obo/DOID_1285 rectal disease http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/UBERON_0014382 collection of hairs on head or neck http://purl.obolibrary.org/obo/DOID_0111601 distal arthrogryposis type 2B2 http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_14483 chorea gravidarum http://purl.obolibrary.org/obo/DOID_12859 choreatic disease http://purl.obolibrary.org/obo/UBERON_0014382 collection of hairs on head or neck http://purl.obolibrary.org/obo/UBERON_0010164 collection of hairs http://purl.obolibrary.org/obo/DOID_0111602 distal arthrogryposis type 2B3 http://purl.obolibrary.org/obo/DOID_0111599 distal arthrogryposis type 2B A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_12707 myoclonic cerebellar dyssynergia http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease http://purl.obolibrary.org/obo/UBERON_0010167 beard http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/DOID_0111603 distal arthrogryposis type 7 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/DOID_0111604 Freeman-Sheldon syndrome http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. http://purl.obolibrary.org/obo/DOID_13548 secondary Parkinson disease http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease http://purl.obolibrary.org/obo/UBERON_0010163 eyebrow http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/DOID_12958 paralytic lagophthalmos http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/DOID_0111605 distal arthrogryposis type 2A http://purl.obolibrary.org/obo/DOID_0111604 Freeman-Sheldon syndrome A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. http://purl.obolibrary.org/obo/UBERON_3000701 intervertebral space http://purl.obolibrary.org/obo/UBERON_0010276 space in vertebral column http://purl.obolibrary.org/obo/DOID_13037 mechanical lagophthalmos http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/DOID_13038 cicatricial lagophthalmos http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/DOID_0111606 autosomal recessive Whistling face syndrome http://purl.obolibrary.org/obo/DOID_0111604 Freeman-Sheldon syndrome A Freeman-Sheldon syndrome that has autosomal recessive inheritance. http://purl.obolibrary.org/obo/DOID_1227 neutropenia http://purl.obolibrary.org/obo/DOID_12987 agranulocytosis http://purl.obolibrary.org/obo/DOID_13139 crescentic glomerulonephritis http://purl.obolibrary.org/obo/DOID_13138 acute proliferative glomerulonephritis http://purl.obolibrary.org/obo/UBERON_0001708 jaw skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0015019 rib endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/DOID_0111607 distal arthrogryposis type 3 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. http://purl.obolibrary.org/obo/DOID_12732 intermediate uveitis http://purl.obolibrary.org/obo/DOID_13141 uveitis http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/DOID_0111608 distal arthrogryposis type 5 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. http://purl.obolibrary.org/obo/DOID_13239 internal pathological resorption http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/UBERON_0015060 sphenoid endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/DOID_0111609 distal arthrogryposis type 6 http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. http://purl.obolibrary.org/obo/DOID_0111610 distal arthrogryposis type 4 http://purl.obolibrary.org/obo/DOID_0050646 distal arthrogryposis A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. http://purl.obolibrary.org/obo/DOID_0111611 autosomal recessive spinocerebellar ataxia 4 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. http://purl.obolibrary.org/obo/DOID_14529 external pathological resorption http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/DOID_14550 root resorption http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/DOID_13271 cutaneous porphyria http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/DOID_0111613 autosomal recessive spinocerebellar ataxia 23 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/DOID_13909 red-green color blindness http://purl.obolibrary.org/obo/DOID_13399 color blindness http://purl.obolibrary.org/obo/DOID_0111614 autosomal recessive spinocerebellar ataxia 22 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/DOID_13910 red color blindness http://purl.obolibrary.org/obo/DOID_13399 color blindness http://purl.obolibrary.org/obo/DOID_0111615 autosomal recessive spinocerebellar ataxia 24 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. http://purl.obolibrary.org/obo/UBERON_0006058 multi-limb segment region http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/DOID_0111616 autosomal recessive spinocerebellar ataxia 27 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. http://purl.obolibrary.org/obo/DOID_13912 acquired color blindness http://purl.obolibrary.org/obo/DOID_13399 color blindness http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/DOID_0111617 autosomal recessive spinocerebellar ataxia 6 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. http://purl.obolibrary.org/obo/DOID_0111618 autosomal recessive spinocerebellar ataxia 8 http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. http://purl.obolibrary.org/obo/DOID_0111619 combined D-2- and L-2-hydroxyglutaric aciduria http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/UBERON_0014795 pelvic appendage muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_12055 sarcoid meningitis http://purl.obolibrary.org/obo/DOID_13403 neurosarcoidosis http://purl.obolibrary.org/obo/DOID_0111620 corneal dystrophy-perceptive deafness syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13. http://purl.obolibrary.org/obo/DOID_12550 hepatic coma http://purl.obolibrary.org/obo/DOID_13413 hepatic encephalopathy http://purl.obolibrary.org/obo/UBERON_0011141 appendicular ossicle http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/DOID_0111621 Temtamy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. http://purl.obolibrary.org/obo/UBERON_0013631 sesamoid element http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/DOID_13676 posterior scleritis http://purl.obolibrary.org/obo/DOID_13452 scleritis http://purl.obolibrary.org/obo/DOID_0111622 ACTH-independent macronodular adrenal hyperplasia http://purl.obolibrary.org/obo/DOID_446 primary hyperaldosteronism A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. http://purl.obolibrary.org/obo/UBERON_0002209 fibrous joint http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/DOID_13794 anterior scleritis http://purl.obolibrary.org/obo/DOID_13452 scleritis http://purl.obolibrary.org/obo/DOID_1358 maxillary sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_0111623 ACTH-independent macronodular adrenal hyperplasia 1 http://purl.obolibrary.org/obo/DOID_0111622 ACTH-independent macronodular adrenal hyperplasia An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. http://purl.obolibrary.org/obo/DOID_0111624 ACTH-independent macronodular adrenal hyperplasia 2 http://purl.obolibrary.org/obo/DOID_0111622 ACTH-independent macronodular adrenal hyperplasia An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_0111625 ventriculomegaly - cystic kidney disease http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3. http://purl.obolibrary.org/obo/UBERON_0002213 cartilaginous joint http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/UBERON_0001066 intervertebral disk http://purl.obolibrary.org/obo/UBERON_0011135 intervertebral cartilage http://purl.obolibrary.org/obo/DOID_1361 frontal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_0111626 D-glyceric aciduria http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. http://purl.obolibrary.org/obo/DOID_1364 ethmoidal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/UBERON_0000956 cerebral cortex http://purl.obolibrary.org/obo/UBERON_0016548 central nervous system gray matter layer http://purl.obolibrary.org/obo/DOID_0111627 DOORS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_12466 secondary hyperparathyroidism http://purl.obolibrary.org/obo/DOID_13543 hyperparathyroidism http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/DOID_0111628 high myopia-sensorineural deafness syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. http://purl.obolibrary.org/obo/DOID_13575 non-renal secondary hyperparathyroidism http://purl.obolibrary.org/obo/DOID_13543 hyperparathyroidism http://purl.obolibrary.org/obo/UBERON_0016550 spinal cord column http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/DOID_0111629 dihydropyrimidinase deficiency http://purl.obolibrary.org/obo/DOID_0050832 pyrimidine metabolic disorder A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3. http://purl.obolibrary.org/obo/DOID_14332 postencephalitic Parkinson disease http://purl.obolibrary.org/obo/DOID_13548 secondary Parkinson disease http://purl.obolibrary.org/obo/UBERON_0000010 peripheral nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_0111630 familial erythrocytosis 8 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. http://purl.obolibrary.org/obo/DOID_0111631 familial erythrocytosis 7 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/UBERON_0002410 autonomic nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_13756 epiphora due to insufficient drainage http://purl.obolibrary.org/obo/DOID_13757 excessive tearing http://purl.obolibrary.org/obo/DOID_0111632 familial erythrocytosis 6 http://purl.obolibrary.org/obo/DOID_10780 primary polycythemia A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. http://purl.obolibrary.org/obo/DOID_14244 epiphora due to excess lacrimation http://purl.obolibrary.org/obo/DOID_13757 excessive tearing http://purl.obolibrary.org/obo/UBERON_0006558 lymphatic part of lymphoid system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_0111633 congenital sucrase-isomaltase deficiency http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_2664 sweat gland benign neoplasm http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_0111634 autosomal recessive nonsyndromic deafness 99 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_1391 Norum disease http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia http://purl.obolibrary.org/obo/DOID_0111635 autosomal recessive nonsyndromic deafness 57 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. http://purl.obolibrary.org/obo/DOID_10593 idiopathic progressive polyneuropathy http://purl.obolibrary.org/obo/DOID_1389 polyneuropathy http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_0111636 autosomal recessive nonsyndromic deafness 113 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_13649 polyneuropathy in collagen vascular disease http://purl.obolibrary.org/obo/DOID_1389 polyneuropathy http://purl.obolibrary.org/obo/DOID_0111637 autosomal recessive nonsyndromic deafness 112 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/DOID_11975 coloboma of optic nerve http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/DOID_0111638 autosomal recessive nonsyndromic deafness 100 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. http://purl.obolibrary.org/obo/DOID_13295 crater-like holes of optic disc http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/DOID_0111639 autosomal recessive nonsyndromic deafness 109 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. http://purl.obolibrary.org/obo/DOID_1392 pseudopapilledema http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/UBERON_0001961 mucosa-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0012069 epithelium-associated lymphoid tissue http://purl.obolibrary.org/obo/DOID_0111640 autosomal recessive nonsyndromic deafness 111 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. http://purl.obolibrary.org/obo/DOID_5691 visual cortex disease http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/UBERON_0015189 perineural vascular plexus http://purl.obolibrary.org/obo/UBERON_0013141 capillary bed http://purl.obolibrary.org/obo/DOID_0111641 autosomal recessive nonsyndromic deafness 94 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. http://purl.obolibrary.org/obo/DOID_10499 orbital granuloma http://purl.obolibrary.org/obo/DOID_1397 chronic orbital inflammation http://purl.obolibrary.org/obo/UBERON_0000995 uterus http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/DOID_0111642 autosomal recessive nonsyndromic deafness 114 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. http://purl.obolibrary.org/obo/DOID_11134 prolapse of lacrimal gland http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_0111643 autosomal recessive nonsyndromic deafness 115 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_13651 eversion of lacrimal punctum http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/UBERON_0001051 hypopharynx http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_0111644 autosomal recessive nonsyndromic deafness 110 http://purl.obolibrary.org/obo/DOID_0050565 autosomal recessive nonsyndromic deafness An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_13653 stenosis of lacrimal punctum http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. http://purl.obolibrary.org/obo/DOID_13654 stenosis of lacrimal passage http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/UBERON_0001479 sesamoid bone http://purl.obolibrary.org/obo/UBERON_0013631 sesamoid element http://purl.obolibrary.org/obo/DOID_0111646 congenital lactase deficiency http://purl.obolibrary.org/obo/DOID_2978 carbohydrate metabolic disorder A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. http://purl.obolibrary.org/obo/DOID_13655 acquired tear duct stenosis http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/UBERON_0002279 vestibular aqueduct http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/DOID_0111647 Schopf-Schulz-Passarge syndrome http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. http://purl.obolibrary.org/obo/DOID_0111648 ectopia lentis with ectopia of pupil http://purl.obolibrary.org/obo/DOID_5614 eye disease An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. http://purl.obolibrary.org/obo/DOID_13757 excessive tearing http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/UBERON_0018321 foramen for glossopharyngeal nerve http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/DOID_0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_13929 lacrimal duct obstruction http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/DOID_0111650 ectodermal dysplasia 13 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. http://purl.obolibrary.org/obo/DOID_1399 primary lacrimal atrophy http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/UBERON_0002027 stratum corneum of epidermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/DOID_0111651 ectodermal dysplasia 15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/DOID_950 dacryoadenitis http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/UBERON_0001154 vermiform appendix http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0111652 ectodermal dysplasia 12 http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11. http://purl.obolibrary.org/obo/DOID_1404 residual stage angle-closure glaucoma http://purl.obolibrary.org/obo/DOID_1405 primary angle-closure glaucoma http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0111653 ectodermal dysplasia 11A http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. http://purl.obolibrary.org/obo/DOID_9383 iridocyclitis http://purl.obolibrary.org/obo/DOID_1407 anterior uveitis http://purl.obolibrary.org/obo/UBERON_0000366 flexor muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0003661 limb muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0111654 ectodermal dysplasia 11B http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. http://purl.obolibrary.org/obo/DOID_14145 malignant anus melanoma http://purl.obolibrary.org/obo/DOID_1909 melanoma http://purl.obolibrary.org/obo/UBERON_0010890 pelvic complex muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. http://purl.obolibrary.org/obo/DOID_11406 choroiditis http://purl.obolibrary.org/obo/DOID_1417 choroid disease http://purl.obolibrary.org/obo/UBERON_0015001 radius endochondral element http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/DOID_0111656 ectodermal dysplasia 9 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_12759 choroid cancer http://purl.obolibrary.org/obo/DOID_3479 uveal cancer http://purl.obolibrary.org/obo/UBERON_0015053 humerus endochondral element http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/DOID_0111657 ectodermal dysplasia 5 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1. http://purl.obolibrary.org/obo/UBERON_0015004 tibia endochondral element http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/DOID_1415 gyrate atrophy http://purl.obolibrary.org/obo/DOID_1417 choroid disease http://purl.obolibrary.org/obo/DOID_0111658 ectodermal dysplasia 4 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/UBERON_0015052 femur endochondral element http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/DOID_11885 ureteral benign neoplasm http://purl.obolibrary.org/obo/DOID_731 urinary system benign neoplasm http://purl.obolibrary.org/obo/DOID_1425 pyoureter http://purl.obolibrary.org/obo/DOID_1426 ureteral disease http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/DOID_0111659 ectodermal dysplasia 6 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2. http://purl.obolibrary.org/obo/DOID_13656 gastrin secretion abnormality http://purl.obolibrary.org/obo/DOID_1428 endocrine pancreas disease http://purl.obolibrary.org/obo/UBERON_0015154 lateral gland of orbital region http://purl.obolibrary.org/obo/UBERON_0015152 gland of ocular region http://purl.obolibrary.org/obo/DOID_0111660 ectodermal dysplasia 7 http://purl.obolibrary.org/obo/DOID_0111655 pure hair and nail ectodermal dysplasia A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13. http://purl.obolibrary.org/obo/DOID_14427 abnormality of glucagon secretion http://purl.obolibrary.org/obo/DOID_1428 endocrine pancreas disease http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/DOID_0111661 ectodermal dysplasia 8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. http://purl.obolibrary.org/obo/DOID_0111662 ectodermal dysplasia 14 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. http://purl.obolibrary.org/obo/DOID_0111663 ectodermal dysplasia 10A http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_0111664 ectodermal dysplasia 1 http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. http://purl.obolibrary.org/obo/DOID_10742 cerebral lipidosis http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration http://purl.obolibrary.org/obo/DOID_14524 senile degeneration of brain http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration http://purl.obolibrary.org/obo/DOID_14111 median rhomboid glossitis http://purl.obolibrary.org/obo/DOID_1456 glossitis http://purl.obolibrary.org/obo/DOID_1453 atrophic glossitis http://purl.obolibrary.org/obo/DOID_1456 glossitis http://purl.obolibrary.org/obo/UBERON_0002405 immune system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/DOID_0111665 ectodermal dysplasia 10B http://purl.obolibrary.org/obo/DOID_14793 hypohidrotic ectodermal dysplasia A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13. http://purl.obolibrary.org/obo/DOID_11633 thyroid hormone resistance syndrome http://purl.obolibrary.org/obo/DOID_1459 hypothyroidism http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/DOID_0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_11634 myxedema http://purl.obolibrary.org/obo/DOID_1459 hypothyroidism http://purl.obolibrary.org/obo/DOID_0111667 enterokinase deficiency http://purl.obolibrary.org/obo/DOID_5295 intestinal disease An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/DOID_1458 postsurgical hypothyroidism http://purl.obolibrary.org/obo/DOID_1459 hypothyroidism http://purl.obolibrary.org/obo/DOID_0111668 Kohlschutter-Tonz syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. http://purl.obolibrary.org/obo/UBERON_0002257 ventral horn of spinal cord http://purl.obolibrary.org/obo/UBERON_0016550 spinal cord column http://purl.obolibrary.org/obo/DOID_14555 Foster-Kennedy syndrome http://purl.obolibrary.org/obo/DOID_146 papilledema http://purl.obolibrary.org/obo/DOID_0111669 hyaline fibromatosis syndrome http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. http://purl.obolibrary.org/obo/UBERON_0004084 genital labium http://purl.obolibrary.org/obo/UBERON_8480029 skin of external genitalia http://purl.obolibrary.org/obo/DOID_14121 blue toe syndrome http://purl.obolibrary.org/obo/DOID_1461 cholesterol embolism http://purl.obolibrary.org/obo/DOID_0080667 spinal muscular atrophy type 0 http://purl.obolibrary.org/obo/DOID_0060160 childhood spinal muscular atrophy A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. http://purl.obolibrary.org/obo/DOID_1460 atheroembolism of kidney http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/UBERON_0007100 primary circulatory organ http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0001872 parietal lobe http://purl.obolibrary.org/obo/UBERON_0016526 lobe of cerebral hemisphere http://purl.obolibrary.org/obo/DOID_0111813 syndactyly type 8 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_13943 acute gonococcal prostatitis http://purl.obolibrary.org/obo/DOID_14654 prostatitis http://purl.obolibrary.org/obo/UBERON_0016525 frontal lobe http://purl.obolibrary.org/obo/UBERON_0016526 lobe of cerebral hemisphere http://purl.obolibrary.org/obo/DOID_0111814 methylmalonic acidemia and homocysteinemia cblX type http://purl.obolibrary.org/obo/DOID_14749 methylmalonic acidemia A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_1134 gingival recession http://purl.obolibrary.org/obo/DOID_1483 gingival disease http://purl.obolibrary.org/obo/DOID_3086 gingival overgrowth http://purl.obolibrary.org/obo/DOID_1483 gingival disease http://purl.obolibrary.org/obo/UBERON_0004885 hilum http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0005340 dorsal telencephalic commissure http://purl.obolibrary.org/obo/UBERON_0019294 commissure of telencephalon http://purl.obolibrary.org/obo/DOID_0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis http://purl.obolibrary.org/obo/DOID_0050699 Dent disease A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22. http://purl.obolibrary.org/obo/DOID_3087 gingivitis http://purl.obolibrary.org/obo/DOID_1483 gingival disease http://purl.obolibrary.org/obo/UBERON_0022276 splenic flexure of colon http://purl.obolibrary.org/obo/UBERON_0022275 colic flexure http://purl.obolibrary.org/obo/DOID_0111816 syndactyly type 1 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. http://purl.obolibrary.org/obo/DOID_1525 nodular nonsuppurative panniculitis http://purl.obolibrary.org/obo/DOID_1526 panniculitis http://purl.obolibrary.org/obo/UBERON_0016548 central nervous system gray matter layer http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/DOID_0111817 syndactyly type 3 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. http://purl.obolibrary.org/obo/DOID_11615 penile cancer http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_13031 balanoposthitis http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/UBERON_0001366 parietal peritoneum http://purl.obolibrary.org/obo/UBERON_0022351 parietal serous membrane http://purl.obolibrary.org/obo/DOID_0111818 syndactyly type 4 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. http://purl.obolibrary.org/obo/DOID_13033 balanitis http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/UBERON_0004529 anatomical projection http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/DOID_0111819 syndactyly type 5 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/DOID_12782 cicatricial ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/DOID_0111820 zygodactyly 1 http://purl.obolibrary.org/obo/DOID_11193 syndactyly A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement. http://purl.obolibrary.org/obo/DOID_13356 senile ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/UBERON_0001756 middle ear http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/DOID_0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/DOID_1569 mechanical ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/DOID_0111822 CHILD syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_1571 spastic ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/DOID_11126 acquired thrombocytopenia http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/DOID_0111823 autosomal hemophilia A http://purl.obolibrary.org/obo/DOID_0061030 hemophilia A hemophilia characterized by autosomal inheritance of a Factor VIII deficiency. http://purl.obolibrary.org/obo/DOID_1587 thrombocytopenia due to platelet alloimmunization http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/DOID_0111825 autosomal dominant Aarskog syndrome http://purl.obolibrary.org/obo/DOID_0111824 Aarskog syndrome An Aarskog syndrome characterized by autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_10782 mesenteric lymphadenitis http://purl.obolibrary.org/obo/DOID_1602 lymphadenitis http://purl.obolibrary.org/obo/UBERON_0010009 aggregate regional part of brain http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/DOID_0111826 Abruzzo-Erickson syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_13072 acquired hyperkeratosis http://purl.obolibrary.org/obo/DOID_161 keratosis http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/DOID_0111827 X-linked spinal muscular atrophy 2 http://purl.obolibrary.org/obo/DOID_12377 spinal muscular atrophy A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_6498 seborrheic keratosis http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/UBERON_0010164 collection of hairs http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia http://purl.obolibrary.org/obo/DOID_0050953 X-linked hereditary ataxia A hereditary ataxia characterized by X-linked inheritance. http://purl.obolibrary.org/obo/DOID_12355 prostatocystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/UBERON_0000341 throat http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/DOID_0111829 X-linked spinocerebellar ataxia 1 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_13507 trigonitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/UBERON_0019243 skin crease http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/DOID_0111830 X-linked spinocerebellar ataxia 2 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. http://purl.obolibrary.org/obo/DOID_13949 interstitial cystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/NCBITaxon_59201 Salmonella enterica subsp. enterica http://purl.obolibrary.org/obo/NCBITaxon_28901 Salmonella enterica http://purl.obolibrary.org/obo/DOID_0111831 X-linked spinocerebellar ataxia 3 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. http://purl.obolibrary.org/obo/DOID_1680 chronic cystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/NCBITaxon_28901 Salmonella enterica http://purl.obolibrary.org/obo/NCBITaxon_590 Salmonella http://purl.obolibrary.org/obo/DOID_0111832 X-linked spinocerebellar ataxia 4 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. http://purl.obolibrary.org/obo/DOID_13832 patent ductus arteriosus http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/SO_0001260 sequence_collection http://purl.obolibrary.org/obo/DOID_0111833 X-linked spinocerebellar ataxia 5 http://purl.obolibrary.org/obo/DOID_0111828 X-linked cerebellar ataxia An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. http://purl.obolibrary.org/obo/DOID_1681 heart septal defect http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0111834 X-linked reticulate pigmentary disorder http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. http://purl.obolibrary.org/obo/DOID_1726 partial of retinal vein occlusion http://purl.obolibrary.org/obo/DOID_1727 retinal vein occlusion http://purl.obolibrary.org/obo/DOID_0111835 congenital nongoitrous hypothyroidism 9 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_13514 venous tributary occlusion of retina http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/DOID_0111836 congenital nongoitrous hypothyroidism 7 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. http://purl.obolibrary.org/obo/DOID_1727 retinal vein occlusion http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/SYMP_0000461 abdominal symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0111837 congenital nongoitrous hypothyroidism 8 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. http://purl.obolibrary.org/obo/DOID_8483 retinal artery occlusion http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/SYMP_0000473 nutrition, metabolism, and development symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0111838 Basilicata-Akhtar syndrome http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. http://purl.obolibrary.org/obo/DOID_12239 anal margin squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_4284 anal margin carcinoma http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0111839 congenital disorder of glycosylation Icc http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/DOID_13538 cornea squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_6199 cornea cancer http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0111840 Van Esch-O'Driscoll syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. http://purl.obolibrary.org/obo/DOID_13865 facial neuralgia http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0111841 Shukla-Vernon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. http://purl.obolibrary.org/obo/DOID_13934 facial paralysis http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0111842 Keipert syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. http://purl.obolibrary.org/obo/DOID_14075 geniculate ganglionitis http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0111843 Paganini-Miozzo syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. http://purl.obolibrary.org/obo/DOID_2462 retinal vascular disease http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/SYMP_0000597 head and neck symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0111844 X-linked intellectual developmental disorder 108 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. http://purl.obolibrary.org/obo/DOID_11481 constrictive pericarditis http://purl.obolibrary.org/obo/DOID_1787 pericarditis http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_0111845 Mullegama-Klein-Martinez syndrome http://purl.obolibrary.org/obo/DOID_0060309 syndromic X-linked intellectual disability A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. http://purl.obolibrary.org/obo/DOID_1375 neonatal urinary tract infectious disease http://purl.obolibrary.org/obo/DOID_18 urinary system disease http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_0111846 X-linked congenital hemolytic anemia http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1. http://purl.obolibrary.org/obo/DOID_1439 pyuria http://purl.obolibrary.org/obo/DOID_18 urinary system disease http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_0111847 osteogenesis imperfecta type 19 http://purl.obolibrary.org/obo/DOID_12347 osteogenesis imperfecta An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. http://purl.obolibrary.org/obo/DOID_5200 urinary tract obstruction http://purl.obolibrary.org/obo/DOID_18 urinary system disease http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_0111848 osteogenesis imperfecta type 18 http://purl.obolibrary.org/obo/DOID_12347 osteogenesis imperfecta An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. http://purl.obolibrary.org/obo/DOID_11832 visual epilepsy http://purl.obolibrary.org/obo/DOID_1826 epilepsy http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_0111849 osteogenesis imperfecta type 20 http://purl.obolibrary.org/obo/DOID_12347 osteogenesis imperfecta An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. http://purl.obolibrary.org/obo/DOID_13658 infective urethral stricture http://purl.obolibrary.org/obo/DOID_1829 urethral stricture http://purl.obolibrary.org/obo/GENO_0000938 incomplete X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/DOID_0111850 primary ciliary dyskinesia 36 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. http://purl.obolibrary.org/obo/DOID_13620 patent foramen ovale http://purl.obolibrary.org/obo/DOID_1882 atrial heart septal defect http://purl.obolibrary.org/obo/GENO_0000939 co-dominant X-linked inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/DOID_0111851 primary ciliary dyskinesia 44 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. http://purl.obolibrary.org/obo/DOID_12010 anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease http://purl.obolibrary.org/obo/GENO_0000937 complete X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/DOID_0111852 primary ciliary dyskinesia 38 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. http://purl.obolibrary.org/obo/DOID_13561 optic disk drusen http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease http://purl.obolibrary.org/obo/GENO_0000143 co-dominant autosomal inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/DOID_0111853 primary ciliary dyskinesia 40 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. http://purl.obolibrary.org/obo/DOID_146 papilledema http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease http://purl.obolibrary.org/obo/GENO_0000144 complete autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/DOID_0111854 primary ciliary dyskinesia 39 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/DOID_13160 scrotum melanoma http://purl.obolibrary.org/obo/DOID_518 scrotum neoplasm http://purl.obolibrary.org/obo/GENO_0000145 incomplete autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/DOID_0111855 primary ciliary dyskinesia 42 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. http://purl.obolibrary.org/obo/DOID_14151 spinal cord melanoma http://purl.obolibrary.org/obo/DOID_5612 spinal cancer http://purl.obolibrary.org/obo/GENO_0000952 sex-limited autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/DOID_0111856 primary ciliary dyskinesia 43 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. http://purl.obolibrary.org/obo/DOID_4359 amelanotic melanoma http://purl.obolibrary.org/obo/DOID_1909 melanoma http://purl.obolibrary.org/obo/GENO_0000953 sex-limited autosomal recessive inheritance http://purl.obolibrary.org/obo/GENO_0000148 autosomal recessive inheritance http://purl.obolibrary.org/obo/DOID_0111857 primary ciliary dyskinesia 45 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. http://purl.obolibrary.org/obo/DOID_11383 cryptorchidism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development http://purl.obolibrary.org/obo/SO_0001745 maternal_uniparental_disomy http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/DOID_0111858 primary ciliary dyskinesia 41 http://purl.obolibrary.org/obo/DOID_9562 primary ciliary dyskinesia A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. http://purl.obolibrary.org/obo/DOID_11613 hyperandrogenism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development http://purl.obolibrary.org/obo/SO_0001746 paternal_uniparental_disomy http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/DOID_0080709 NK cell deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that results from deficiency in the number or function of CD56+CD3− NK cell in peripheral blood. http://purl.obolibrary.org/obo/DOID_3765 pseudohermaphroditism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development http://purl.obolibrary.org/obo/SO_0000199 translocation http://purl.obolibrary.org/obo/SO_0001785 structural_alteration http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. http://purl.obolibrary.org/obo/DOID_10587 Krabbe disease http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis http://purl.obolibrary.org/obo/HP_0012758 Neurodevelopmental delay http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/DOID_0080711 multisystem inflammatory syndrome in children http://purl.obolibrary.org/obo/DOID_0080599 Coronavirus infectious disease A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. http://purl.obolibrary.org/obo/DOID_11864 peripheral focal chorioretinitis http://purl.obolibrary.org/obo/DOID_1979 focal chorioretinitis http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/DOID_0080712 gene duplication disease http://purl.obolibrary.org/obo/DOID_0050177 monogenic disease A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. http://purl.obolibrary.org/obo/DOID_10873 Kuhnt-Junius degeneration http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/DOID_0080714 hereditary alpha tryptasemia syndrome http://purl.obolibrary.org/obo/DOID_0080712 gene duplication disease A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems. http://purl.obolibrary.org/obo/DOID_13214 hole retinal cyst http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/HP_0025033 Abnormal digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/DOID_0080715 developmental and epileptic encephalopathy 82 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. http://purl.obolibrary.org/obo/DOID_14245 cystoid macular retinal degeneration http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/HP_0000975 Hyperhidrosis http://purl.obolibrary.org/obo/HP_0025276 Abnormality of skin adnexa physiology http://purl.obolibrary.org/obo/DOID_0080716 infantile liver failure syndrome http://purl.obolibrary.org/obo/DOID_409 liver disease A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. http://purl.obolibrary.org/obo/DOID_2569 retinal drusen http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/HP_0010468 Aplasia/Hypoplasia of the testes http://purl.obolibrary.org/obo/HP_0045058 Abnormality of the testis size http://purl.obolibrary.org/obo/DOID_0080717 infantile liver failure syndrome 1 http://purl.obolibrary.org/obo/DOID_0080716 infantile liver failure syndrome An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32. http://purl.obolibrary.org/obo/DOID_13088 periventricular leukomalacia http://purl.obolibrary.org/obo/DOID_2034 encephalomalacia http://purl.obolibrary.org/obo/HP_0032120 Abnormal peripheral nervous system physiology http://purl.obolibrary.org/obo/HP_0410008 Abnormality of the peripheral nervous system http://purl.obolibrary.org/obo/DOID_0080718 GNE myopathy http://purl.obolibrary.org/obo/DOID_423 myopathy A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. http://purl.obolibrary.org/obo/DOID_13566 tibial collateral ligament bursitis http://purl.obolibrary.org/obo/DOID_204 enthesopathy http://purl.obolibrary.org/obo/SO_0000055 hyperploid http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/DOID_0080719 congenital myopathy 6 http://purl.obolibrary.org/obo/DOID_0081337 congenital myopathy A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_12084 transient arthropathy http://purl.obolibrary.org/obo/DOID_2092 transient arthritis http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/DOID_0080720 autosomal dominant congenital deafness with onychodystrophy http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_12661 tooth ankylosis http://purl.obolibrary.org/obo/DOID_227 ankylosis http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/DOID_0080721 calvarial doughnut lesions with bone fragility http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. http://purl.obolibrary.org/obo/DOID_12733 hypercementosis http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/DOID_0080722 Kenny-Caffey syndrome type 1 http://purl.obolibrary.org/obo/DOID_0080724 Kenny-Caffey syndrome A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_0080723 Kenny-Caffey syndrome type 2 http://purl.obolibrary.org/obo/DOID_0080724 Kenny-Caffey syndrome A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. http://purl.obolibrary.org/obo/DOID_2498 tooth erosion http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/SO_0002219 functionally_normal http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_0080724 Kenny-Caffey syndrome http://purl.obolibrary.org/obo/DOID_2256 osteochondrodysplasia A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. http://purl.obolibrary.org/obo/DOID_10461 dentin caries http://purl.obolibrary.org/obo/DOID_216 dental caries http://purl.obolibrary.org/obo/SO_0002220 function_uncertain_variant http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_0080725 BASAN syndrome http://purl.obolibrary.org/obo/DOID_2121 ectodermal dysplasia An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. http://purl.obolibrary.org/obo/DOID_11736 odontoclasia http://purl.obolibrary.org/obo/DOID_216 dental caries http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_0080726 Ehlers-Danlos syndrome classic type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. http://purl.obolibrary.org/obo/DOID_14089 root caries http://purl.obolibrary.org/obo/DOID_216 dental caries http://purl.obolibrary.org/obo/SO_0002318 altered_gene_product_sequence http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_0080727 Ehlers-Danlos syndrome arthrochalasia type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_14683 Binder syndrome http://purl.obolibrary.org/obo/DOID_2163 nasal cavity disease http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/DOID_0080728 Ehlers-Danlos syndrome arthrochalasia type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_12190 descending colon cancer http://purl.obolibrary.org/obo/DOID_219 colon cancer http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_0080729 brittle cornea syndrome 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. http://purl.obolibrary.org/obo/DOID_12192 sigmoid colon cancer http://purl.obolibrary.org/obo/DOID_219 colon cancer http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_0080730 Ehlers-Danlos syndrome cardiac valvular type http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. http://purl.obolibrary.org/obo/DOID_3326 purpura http://purl.obolibrary.org/obo/DOID_2213 hemorrhagic disease http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_0080731 Ehlers-Danlos syndrome classic-like 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_11125 qualitative platelet defect http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_0080732 Ehlers-Danlos syndrome classic-like 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. http://purl.obolibrary.org/obo/DOID_12382 complex partial epilepsy http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_0080733 Ehlers-Danlos syndrome dermatosparaxis type http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_12351 alcoholic hepatitis http://purl.obolibrary.org/obo/DOID_0070658 alcohol-associated liver disease http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_13003 vertebrobasilar insufficiency http://purl.obolibrary.org/obo/DOID_224 transient cerebral ischemia http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/DOID_0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. http://purl.obolibrary.org/obo/DOID_13002 subclavian steal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/DOID_0080736 Ehlers-Danlos syndrome musculocontractural type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_14283 primary hypertrophic osteoarthropathy http://purl.obolibrary.org/obo/DOID_225 syndrome http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/DOID_0080737 Ehlers-Danlos syndrome musculocontractural type 2 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. http://purl.obolibrary.org/obo/DOID_13097 intracranial arteriosclerosis http://purl.obolibrary.org/obo/DOID_2349 arteriosclerosis http://purl.obolibrary.org/obo/SO_0001549 transcription_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/DOID_0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_10657 colonic lymphangioma http://purl.obolibrary.org/obo/DOID_235 colonic benign neoplasm http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/DOID_0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 http://purl.obolibrary.org/obo/DOID_13359 Ehlers-Danlos syndrome An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. http://purl.obolibrary.org/obo/DOID_11518 abnormal pupillary function http://purl.obolibrary.org/obo/DOID_238 pupil disease http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/DOID_0080740 Libman-Sacks endocarditis http://purl.obolibrary.org/obo/DOID_0060068 nonbacterial thrombotic endocarditis A nonbacterial thrombotic endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. http://purl.obolibrary.org/obo/DOID_11452 perinatal jaundice due to hepatocellular damage http://purl.obolibrary.org/obo/DOID_2383 neonatal jaundice http://purl.obolibrary.org/obo/SO_0001602 complex_change_of_translational_product_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/DOID_0080741 limbic encephalitis http://purl.obolibrary.org/obo/DOID_9588 encephalitis An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. http://purl.obolibrary.org/obo/DOID_12043 kernicterus due to isoimmunization http://purl.obolibrary.org/obo/DOID_2383 neonatal jaundice http://purl.obolibrary.org/obo/DOID_1406 iritis http://purl.obolibrary.org/obo/DOID_240 iris disease http://purl.obolibrary.org/obo/SO_0001541 decreased_transcript_level_variant http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/DOID_0080742 autoimmune cholangitis http://purl.obolibrary.org/obo/DOID_2048 autoimmune hepatitis An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. http://purl.obolibrary.org/obo/DOID_10772 thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/DOID_2452 thrombophilia http://purl.obolibrary.org/obo/SO_0001542 increased_transcript_level_variant http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/DOID_0080743 transverse myelitis http://purl.obolibrary.org/obo/DOID_322 myelitis A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. http://purl.obolibrary.org/obo/DOID_11247 disseminated intravascular coagulation http://purl.obolibrary.org/obo/DOID_2452 thrombophilia http://purl.obolibrary.org/obo/SO_0001544 editing_variant http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/DOID_0080744 antisynthetase syndrome http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. http://purl.obolibrary.org/obo/DOID_13999 contact blepharoconjunctivitis http://purl.obolibrary.org/obo/DOID_2456 blepharoconjunctivitis http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/DOID_11295 retinal microaneurysm http://purl.obolibrary.org/obo/DOID_2462 retinal vascular disease http://purl.obolibrary.org/obo/DOID_0080745 polymyositis http://purl.obolibrary.org/obo/DOID_633 myositis A myositis that is characterized by muscle weakness affecting both sides of your body. http://purl.obolibrary.org/obo/SO_0001802 increased_polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/DOID_8947 diabetic retinopathy http://purl.obolibrary.org/obo/DOID_2462 retinal vascular disease http://purl.obolibrary.org/obo/DOID_0080746 Sweet syndrome http://purl.obolibrary.org/obo/DOID_37 skin disease A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. http://purl.obolibrary.org/obo/SO_0001803 decreased_polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/DOID_8646 substance-induced psychosis http://purl.obolibrary.org/obo/DOID_2468 psychotic disorder http://purl.obolibrary.org/obo/DOID_0080747 chronic urticaria http://purl.obolibrary.org/obo/DOID_1555 urticaria An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. http://purl.obolibrary.org/obo/DOID_13326 chronic follicular conjunctivitis http://purl.obolibrary.org/obo/DOID_2475 chronic conjunctivitis http://purl.obolibrary.org/obo/SO_0001547 decreased_transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/DOID_0080748 chronic inducible urticaria http://purl.obolibrary.org/obo/DOID_0080747 chronic urticaria A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. http://purl.obolibrary.org/obo/DOID_13341 parasitic conjunctivitis http://purl.obolibrary.org/obo/DOID_2475 chronic conjunctivitis http://purl.obolibrary.org/obo/SO_0001548 increased_transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/DOID_0080749 chronic spontaneous urticaria http://purl.obolibrary.org/obo/DOID_0080747 chronic urticaria A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. http://purl.obolibrary.org/obo/DOID_10846 angiodysplasia of intestine http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/SO_0001549 transcription_variant http://purl.obolibrary.org/obo/DOID_0080750 erythema nodosum http://purl.obolibrary.org/obo/DOID_1526 panniculitis A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. http://purl.obolibrary.org/obo/DOID_13629 dentine erosion http://purl.obolibrary.org/obo/DOID_2498 tooth erosion http://purl.obolibrary.org/obo/SO_0001551 increased_transcription_rate_variant http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans http://purl.obolibrary.org/obo/DOID_1697 ichthyosis An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. http://purl.obolibrary.org/obo/DOID_14140 pulp erosion http://purl.obolibrary.org/obo/DOID_2498 tooth erosion http://purl.obolibrary.org/obo/SO_0001552 decreased_transcription_rate_variant http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/DOID_0080752 keratosis pilaris atrophicans faciei http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area. http://purl.obolibrary.org/obo/DOID_11994 atrophy of testis http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/SO_0001555 decreased_translational_product_level http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/DOID_0080753 keratosis follicularis spinulosa decalvans http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. http://purl.obolibrary.org/obo/DOID_11996 spermatic cord torsion http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/SO_0001556 increased_translational_product_level http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/DOID_0080754 X-linked keratosis follicularis spinulosa decalvans http://purl.obolibrary.org/obo/DOID_0080753 keratosis follicularis spinulosa decalvans A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. http://purl.obolibrary.org/obo/DOID_12332 hematocele of tunica vaginalis testis http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/SO_0001557 polypeptide_gain_of_function_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_0080755 autosomal dominant keratosis follicularis spinulosa decalvans http://purl.obolibrary.org/obo/DOID_0080753 keratosis follicularis spinulosa decalvans A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_11786 splenic sequestration http://purl.obolibrary.org/obo/DOID_2529 splenic disease http://purl.obolibrary.org/obo/SO_0001558 polypeptide_localization_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_0080756 atrophoderma vermiculata http://purl.obolibrary.org/obo/DOID_0080751 keratosis pilaris atrophicans A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. http://purl.obolibrary.org/obo/DOID_11787 chronic congestive splenomegaly http://purl.obolibrary.org/obo/DOID_2529 splenic disease http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_0080757 Fanconi renotubular syndrome 1 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_14183 alcoholic neuropathy http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy http://purl.obolibrary.org/obo/SO_0001562 polypeptide_post_translational_processing_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_0080758 Fanconi renotubular syndrome 2 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_14184 polyneuropathy due to drug http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy http://purl.obolibrary.org/obo/DOID_0080759 Fanconi renotubular syndrome 3 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. http://purl.obolibrary.org/obo/SO_0001560 inactive_ligand_binding_site http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/DOID_14402 critical illness polyneuropathy http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy http://purl.obolibrary.org/obo/DOID_0080760 Fanconi renotubular syndrome 4 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. http://purl.obolibrary.org/obo/SO_0001561 polypeptide_partial_loss_of_function http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/DOID_13081 hemangioma of subcutaneous tissue http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_0080761 Fanconi renotubular syndrome 5 http://purl.obolibrary.org/obo/DOID_1062 Fanconi syndrome A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. http://purl.obolibrary.org/obo/SO_0001618 inactive_catalytic_site http://purl.obolibrary.org/obo/SO_0001560 inactive_ligand_binding_site http://purl.obolibrary.org/obo/DOID_14308 skin epithelioid hemangioma http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z http://purl.obolibrary.org/obo/DOID_0110274 autosomal recessive limb-girdle muscular dystrophy An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. http://purl.obolibrary.org/obo/SO_0001911 copy_number_increase http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/DOID_471 skin hemangioma http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_0080763 diffuse gastric cancer http://purl.obolibrary.org/obo/DOID_10534 stomach cancer A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. http://purl.obolibrary.org/obo/SO_0001912 copy_number_decrease http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/DOID_474 histiocytoid hemangioma http://purl.obolibrary.org/obo/DOID_255 hemangioma http://purl.obolibrary.org/obo/DOID_0080764 hereditary diffuse gastric cancer http://purl.obolibrary.org/obo/DOID_0080763 diffuse gastric cancer A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/DOID_5241 hemangioblastoma http://purl.obolibrary.org/obo/DOID_255 hemangioma http://purl.obolibrary.org/obo/DOID_0080765 autosomal recessive intellectual developmental disorder 72 http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. http://purl.obolibrary.org/obo/SO_0001598 translational_product_structure_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/DOID_11472 subglottis cancer http://purl.obolibrary.org/obo/DOID_2596 larynx cancer http://purl.obolibrary.org/obo/DOID_0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. http://purl.obolibrary.org/obo/SO_0002152 genic_downstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/SO_0002153 genic_upstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/DOID_13348 laryngeal cartilage cancer http://purl.obolibrary.org/obo/DOID_2596 larynx cancer http://purl.obolibrary.org/obo/DOID_0111932 severe congenital encephalopathy due to MECP2 mutation http://purl.obolibrary.org/obo/DOID_936 brain disease A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. http://purl.obolibrary.org/obo/SO_0002085 unidirectional_gene_fusion http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/DOID_13476 supraglottis cancer http://purl.obolibrary.org/obo/DOID_2596 larynx cancer http://purl.obolibrary.org/obo/DOID_0111933 phosphoglycerate kinase 1 deficiency http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. http://purl.obolibrary.org/obo/SO_0002086 bidirectional_gene_fusion http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/DOID_10610 pancreatic steatorrhea http://purl.obolibrary.org/obo/DOID_26 pancreas disease http://purl.obolibrary.org/obo/DOID_0111934 immunodeficiency 38 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/SO_0001782 TF_binding_site_variant http://purl.obolibrary.org/obo/SO_0001566 regulatory_region_variant http://purl.obolibrary.org/obo/DOID_13313 pancreatic mucinous ductal ectasia http://purl.obolibrary.org/obo/DOID_26 pancreas disease http://purl.obolibrary.org/obo/DOID_0111935 immunodeficiency 16 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_139 squamous cell papilloma http://purl.obolibrary.org/obo/DOID_2615 papilloma http://purl.obolibrary.org/obo/DOID_0111936 immunodeficiency 14 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. http://purl.obolibrary.org/obo/SO_0001572 exon_loss_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/SO_0001573 intron_gain_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_1627 intraductal papilloma http://purl.obolibrary.org/obo/DOID_3013 intraductal breast benign neoplasm http://purl.obolibrary.org/obo/DOID_0111937 immunodeficiency 22 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/DOID_173 eccrine sweat gland neoplasm http://purl.obolibrary.org/obo/DOID_2664 sweat gland benign neoplasm http://purl.obolibrary.org/obo/DOID_0111938 immunodeficiency 24 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_13454 gonococcal synovitis http://purl.obolibrary.org/obo/DOID_2703 synovitis http://purl.obolibrary.org/obo/DOID_0111939 immunodeficiency 37 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. http://purl.obolibrary.org/obo/SO_0001995 extended_intronic_splice_region_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_10762 portal hypertension http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease http://purl.obolibrary.org/obo/DOID_0111940 immunodeficiency 42 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. http://purl.obolibrary.org/obo/SO_0002169 splice_polypyrimidine_tract_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_13738 hepatic infarction http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease http://purl.obolibrary.org/obo/DOID_0111941 immunodeficiency 20 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. http://purl.obolibrary.org/obo/SO_0001570 cryptic_splice_acceptor http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/DOID_13739 nutmeg liver http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease http://purl.obolibrary.org/obo/DOID_0111942 immunodeficiency 25 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. http://purl.obolibrary.org/obo/SO_0001571 cryptic_splice_donor http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/DOID_11330 erysipelas http://purl.obolibrary.org/obo/DOID_2723 dermatitis http://purl.obolibrary.org/obo/DOID_0111943 immunodeficiency 48 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/SO_0002327 splice_acceptor_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/DOID_11129 dislocation of ear ossicle http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/DOID_0111944 immunodeficiency 31B http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/SO_0002328 splice_acceptor_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/DOID_11783 necrosis of ear ossicle http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/DOID_0111945 immunodeficiency 31A http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/SO_0002325 splice_donor_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/DOID_2889 retrocochlear disease http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/DOID_0111946 immunodeficiency 31C http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. http://purl.obolibrary.org/obo/SO_0002326 splice_donor_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/DOID_5100 middle ear disease http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/DOID_0111947 immunodeficiency 21 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_11400 pyelonephritis http://purl.obolibrary.org/obo/DOID_2744 pyelitis http://purl.obolibrary.org/obo/DOID_0111948 immunodeficiency 46 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. http://purl.obolibrary.org/obo/SO_0001577 complex_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_4205 cerebellum cancer http://purl.obolibrary.org/obo/DOID_4706 infratentorial cancer http://purl.obolibrary.org/obo/DOID_0111949 immunodeficiency 36 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. http://purl.obolibrary.org/obo/SO_0001596 transcript_secondary_structure_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_1352 paranasal sinus disease http://purl.obolibrary.org/obo/DOID_2825 nose disease http://purl.obolibrary.org/obo/DOID_0111950 immunodeficiency 29 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. http://purl.obolibrary.org/obo/SO_0001619 non_coding_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_2163 nasal cavity disease http://purl.obolibrary.org/obo/DOID_2825 nose disease http://purl.obolibrary.org/obo/SO_0001621 NMD_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_0111951 immunodeficiency 40 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. http://purl.obolibrary.org/obo/DOID_0111952 immunodeficiency 57 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. http://purl.obolibrary.org/obo/DOID_10783 methemoglobinemia http://purl.obolibrary.org/obo/DOID_2860 hemoglobinopathy http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_0111953 immunodeficiency 23 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. http://purl.obolibrary.org/obo/DOID_0111954 immunodeficiency 60 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. http://purl.obolibrary.org/obo/DOID_12657 vestibulocochlear nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/SO_0001791 exon_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_0111955 immunodeficiency 27A http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. http://purl.obolibrary.org/obo/DOID_12756 lacrimal duct cancer http://purl.obolibrary.org/obo/DOID_292 lacrimal system cancer http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_0111956 immunodeficiency 27B http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. http://purl.obolibrary.org/obo/DOID_10976 membranous glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/SO_0002011 intragenic_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_0111957 immunodeficiency 11A http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. http://purl.obolibrary.org/obo/DOID_11036 chronic rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_0111958 immunodeficiency 11B http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. http://purl.obolibrary.org/obo/DOID_13138 acute proliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_0111959 immunodeficiency 15B http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_14064 acute poststreptococcal glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/SO_0001582 initiator_codon_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/DOID_0111960 immunodeficiency 15A http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_4781 diffuse glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/SO_0001590 terminator_codon_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/DOID_0111961 immunodeficiency 26 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. http://purl.obolibrary.org/obo/DOID_566 labyrinthine dysfunction http://purl.obolibrary.org/obo/DOID_2952 inner ear disease http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/DOID_0111963 dendritic cell deficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells. http://purl.obolibrary.org/obo/DOID_12276 malignant tumor of undescended testis http://purl.obolibrary.org/obo/DOID_2998 testicular cancer http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/DOID_0111964 B cell and dendritic cell deficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. http://purl.obolibrary.org/obo/DOID_12286 testicular leukemia http://purl.obolibrary.org/obo/DOID_2998 testicular cancer http://purl.obolibrary.org/obo/SO_0002012 start_lost http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells. http://purl.obolibrary.org/obo/DOID_12342 retroperitoneum carcinoma http://purl.obolibrary.org/obo/DOID_5875 retroperitoneal cancer http://purl.obolibrary.org/obo/SO_0002019 start_retained_variant http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/DOID_0111966 monocyte, dendritic cell, and NK cell deficiency http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells. http://purl.obolibrary.org/obo/DOID_3445 scrotal carcinoma http://purl.obolibrary.org/obo/DOID_518 scrotum neoplasm http://purl.obolibrary.org/obo/SO_0001585 conservative_missense_variant http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/DOID_0111967 immunodeficiency 54 http://purl.obolibrary.org/obo/DOID_0080709 NK cell deficiency A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. http://purl.obolibrary.org/obo/DOID_3181 oligodendroglioma http://purl.obolibrary.org/obo/DOID_3070 high grade glioma http://purl.obolibrary.org/obo/SO_0001586 non_conservative_missense_variant http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/DOID_0111968 immunodeficiency 41 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. http://purl.obolibrary.org/obo/DOID_13924 necrotizing ulcerative gingivitis http://purl.obolibrary.org/obo/DOID_3087 gingivitis http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/SO_0001586 non_conservative_missense_variant http://purl.obolibrary.org/obo/DOID_0111969 immunodeficiency 39 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5. http://purl.obolibrary.org/obo/SO_0002321 stop_gained_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/DOID_171 neuroectodermal tumor http://purl.obolibrary.org/obo/DOID_3093 nervous system cancer http://purl.obolibrary.org/obo/SO_0002322 stop_gained_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/SO_0001591 frame_restoring_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_0111970 immunodeficiency 10 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. http://purl.obolibrary.org/obo/DOID_12298 intrahepatic gall duct cancer http://purl.obolibrary.org/obo/DOID_3121 gallbladder cancer http://purl.obolibrary.org/obo/SO_0001592 minus_1_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_0111971 immunodeficiency 18 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_12639 pyloric stenosis http://purl.obolibrary.org/obo/DOID_3122 gastric outlet obstruction http://purl.obolibrary.org/obo/SO_0001593 minus_2_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_0111972 immunodeficiency 19 http://purl.obolibrary.org/obo/DOID_627 severe combined immunodeficiency A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_11014 anorectal stricture http://purl.obolibrary.org/obo/DOID_3128 anus disease http://purl.obolibrary.org/obo/SO_0001594 plus_1_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_0111973 immunodeficiency 17 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_11374 anal spasm http://purl.obolibrary.org/obo/DOID_3128 anus disease http://purl.obolibrary.org/obo/SO_0001595 plus_2_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_0111974 immunodeficiency 59 http://purl.obolibrary.org/obo/DOID_0111964 B cell and dendritic cell deficiency A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. http://purl.obolibrary.org/obo/DOID_14498 lipoid proteinosis http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder http://purl.obolibrary.org/obo/DOID_14692 Smith-Lemli-Opitz syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder http://purl.obolibrary.org/obo/SO_0001909 frameshift_elongation http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/SO_0001910 frameshift_truncation http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/DOID_0111975 immunodeficiency 44 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. http://purl.obolibrary.org/obo/DOID_0111976 immunodeficiency 9 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. http://purl.obolibrary.org/obo/DOID_14116 multiple symmetric lipomatosis http://purl.obolibrary.org/obo/DOID_3153 lipomatosis http://purl.obolibrary.org/obo/SO_0002323 frameshift_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/DOID_0111977 immunodeficiency 7 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. http://purl.obolibrary.org/obo/DOID_172 clear cell acanthoma http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/SO_0002324 frameshift_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/DOID_0111978 immunodeficiency 65 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. http://purl.obolibrary.org/obo/DOID_174 acanthoma http://purl.obolibrary.org/obo/DOID_3168 squamous cell neoplasm http://purl.obolibrary.org/obo/SO_0001567 stop_retained_variant http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/DOID_0111979 immunodeficiency 49 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. http://purl.obolibrary.org/obo/DOID_1089 tethered spinal cord syndrome http://purl.obolibrary.org/obo/DOID_319 spinal cord disease http://purl.obolibrary.org/obo/SO_0001578 stop_lost http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/DOID_12689 acoustic neuroma http://purl.obolibrary.org/obo/DOID_3192 neurilemmoma http://purl.obolibrary.org/obo/DOID_0111980 immunodeficiency 64 http://purl.obolibrary.org/obo/DOID_0111965 T cell, B cell, and NK cell deficiency A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. http://purl.obolibrary.org/obo/SO_0001626 incomplete_terminal_codon_variant http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/DOID_956 peripheral nerve schwannoma http://purl.obolibrary.org/obo/DOID_3192 neurilemmoma http://purl.obolibrary.org/obo/DOID_0111981 immunodeficiency 43 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. http://purl.obolibrary.org/obo/DOID_0111982 immunodeficiency 56 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. http://purl.obolibrary.org/obo/SO_0001597 compensatory_transcript_secondary_structure_variant http://purl.obolibrary.org/obo/SO_0001596 transcript_secondary_structure_variant http://purl.obolibrary.org/obo/DOID_14500 fucosidosis http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/SO_0001598 translational_product_structure_variant http://purl.obolibrary.org/obo/DOID_0111983 immunodeficiency 52 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. http://purl.obolibrary.org/obo/SO_0001600 complex_3D_structural_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/DOID_14022 algoneurodystrophy http://purl.obolibrary.org/obo/DOID_3223 complex regional pain syndrome http://purl.obolibrary.org/obo/SO_0001601 conformational_change_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/SO_0002093 structural_interaction_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/DOID_0111984 immunodeficiency 58 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. http://purl.obolibrary.org/obo/DOID_14224 tracheal calcification http://purl.obolibrary.org/obo/DOID_3225 tracheal disease http://purl.obolibrary.org/obo/SO_0001604 amino_acid_deletion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_0111985 immunodeficiency 32B http://purl.obolibrary.org/obo/DOID_0111966 monocyte, dendritic cell, and NK cell deficiency A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/DOID_12835 quadriplegia http://purl.obolibrary.org/obo/DOID_331 central nervous system disease http://purl.obolibrary.org/obo/SO_0001605 amino_acid_insertion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_0111986 immunodeficiency 32A http://purl.obolibrary.org/obo/DOID_0111963 dendritic cell deficiency A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. http://purl.obolibrary.org/obo/DOID_319 spinal cord disease http://purl.obolibrary.org/obo/DOID_331 central nervous system disease http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_11840 coronary artery vasospasm http://purl.obolibrary.org/obo/DOID_3393 coronary artery disease http://purl.obolibrary.org/obo/DOID_0111987 immunodeficiency 13 http://purl.obolibrary.org/obo/DOID_11200 T cell deficiency A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_11843 coronary artery anomaly http://purl.obolibrary.org/obo/DOID_3393 coronary artery disease http://purl.obolibrary.org/obo/DOID_0111988 immunodeficiency 12 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. http://purl.obolibrary.org/obo/DOID_11847 coronary thrombosis http://purl.obolibrary.org/obo/DOID_0060903 thrombosis http://purl.obolibrary.org/obo/SO_0001616 polypeptide_fusion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/SO_0001617 polypeptide_truncation http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_0111989 immunodeficiency 35 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. http://purl.obolibrary.org/obo/DOID_13001 carotid stenosis http://purl.obolibrary.org/obo/DOID_3407 carotid artery disease http://purl.obolibrary.org/obo/SO_0001607 conservative_amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/DOID_0111990 immunodeficiency 30 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. http://purl.obolibrary.org/obo/DOID_1272 telangiectasis http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/SO_0001608 non_conservative_amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/DOID_0111991 immunodeficiency 62 http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_12918 thromboangiitis obliterans http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/DOID_0111992 immunodeficiency 53 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. http://purl.obolibrary.org/obo/DOID_0111993 immunodeficiency 55 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. http://purl.obolibrary.org/obo/DOID_13252 mesenteric vascular occlusion http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/DOID_0111994 immunodeficiency 45 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/SO_0001612 elongated_in_frame_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/DOID_0111995 immunodeficiency 28 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. http://purl.obolibrary.org/obo/DOID_12491 Vagus nerve disease http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease http://purl.obolibrary.org/obo/SO_0001613 elongated_out_of_frame_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001614 elongated_in_frame_polypeptide_N_terminal_elongation http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/DOID_0111996 immunodeficiency 51 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. http://purl.obolibrary.org/obo/DOID_13866 multiple cranial nerve palsy http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease http://purl.obolibrary.org/obo/SO_0001615 elongated_out_of_frame_polypeptide_N_terminal http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/DOID_0111997 immunodeficiency 63 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. http://purl.obolibrary.org/obo/DOID_14423 glossopharyngeal neuralgia http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease http://purl.obolibrary.org/obo/SO_0001620 mature_miRNA_variant http://purl.obolibrary.org/obo/SO_0001619 non_coding_transcript_variant http://purl.obolibrary.org/obo/DOID_0111998 immunodeficiency 66 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. http://purl.obolibrary.org/obo/DOID_240 iris disease http://purl.obolibrary.org/obo/DOID_3480 uveal disease http://purl.obolibrary.org/obo/SO_0001792 non_coding_transcript_exon_variant http://purl.obolibrary.org/obo/SO_0001791 exon_variant http://purl.obolibrary.org/obo/DOID_0111999 immunodeficiency 61 http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/DOID_10941 intracranial aneurysm http://purl.obolibrary.org/obo/DOID_3527 cerebral arterial disease http://purl.obolibrary.org/obo/SO_0001970 non_coding_transcript_intron_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/DOID_0112000 immunodeficiency 34 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. http://purl.obolibrary.org/obo/DOID_0112001 immunodeficiency 50 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. http://purl.obolibrary.org/obo/DOID_14174 central neurocytoma http://purl.obolibrary.org/obo/DOID_3541 cerebral ventricle cancer http://purl.obolibrary.org/obo/SO_0002088 non_coding_transcript_splice_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/DOID_0112002 immunodeficiency 47 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_13687 chronic duodenal ileus http://purl.obolibrary.org/obo/DOID_3558 duodenal obstruction http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/DOID_0112003 immunodeficiency 33 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. http://purl.obolibrary.org/obo/DOID_11316 histoplasmosis retinitis http://purl.obolibrary.org/obo/DOID_3612 retinitis http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/DOID_0112004 immunodeficiency 71 http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. http://purl.obolibrary.org/obo/DOID_1130 pituitary infarct http://purl.obolibrary.org/obo/DOID_3646 necrosis of pituitary http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_0112005 immunodeficiency 70 http://purl.obolibrary.org/obo/DOID_628 combined T cell and B cell immunodeficiency A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. http://purl.obolibrary.org/obo/DOID_11355 bladder calculus http://purl.obolibrary.org/obo/DOID_9590 lower urinary tract calculus http://purl.obolibrary.org/obo/SO_0002013 5_prime_UTR_truncation http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_0112006 immunodeficiency 69 http://purl.obolibrary.org/obo/DOID_0080710 T cell and NK cell immunodeficiency A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. http://purl.obolibrary.org/obo/DOID_12143 neurogenic bladder http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/DOID_12144 low compliance bladder http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/SO_0002014 5_prime_UTR_elongation http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_0112007 growth hormone secreting pituitary adenoma 2 http://purl.obolibrary.org/obo/DOID_6255 growth hormone secreting pituitary adenoma A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. http://purl.obolibrary.org/obo/DOID_0112008 pituitary adenoma 5 http://purl.obolibrary.org/obo/DOID_3829 pituitary adenoma A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. http://purl.obolibrary.org/obo/DOID_0112009 pituitary adenoma 1 http://purl.obolibrary.org/obo/DOID_3829 pituitary adenoma A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2. http://purl.obolibrary.org/obo/SO_0002091 5_prime_UTR_intron_variant http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/DOID_12145 detrusor sphincter dyssynergia http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/DOID_13948 bladder neck obstruction http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/DOID_12309 urticaria pigmentosa http://purl.obolibrary.org/obo/DOID_3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/DOID_0112010 pituitary adenoma 3 http://purl.obolibrary.org/obo/DOID_3829 pituitary adenoma A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. http://purl.obolibrary.org/obo/SO_0002092 5_prime_UTR_exon_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_12016 frontal lobe neoplasm http://purl.obolibrary.org/obo/DOID_368 cerebrum cancer http://purl.obolibrary.org/obo/DOID_0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques http://purl.obolibrary.org/obo/DOID_161 keratosis A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0002015 3_prime_UTR_truncation http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_3153 lipomatosis http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/DOID_0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques http://purl.obolibrary.org/obo/DOID_0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. http://purl.obolibrary.org/obo/SO_0002016 3_prime_UTR_elongation http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_10541 microinvasive gastric cancer http://purl.obolibrary.org/obo/DOID_3717 gastric adenocarcinoma http://purl.obolibrary.org/obo/DOID_0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques http://purl.obolibrary.org/obo/DOID_0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. http://purl.obolibrary.org/obo/DOID_0080766 erythrokeratodermia variabilis et progressiva 6 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. http://purl.obolibrary.org/obo/SO_0002089 3_prime_UTR_exon_variant http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_12123 postinflammatory pulmonary fibrosis http://purl.obolibrary.org/obo/DOID_3770 pulmonary fibrosis http://purl.obolibrary.org/obo/DOID_0080767 autoimmune myocarditis http://purl.obolibrary.org/obo/DOID_0060051 autoimmune disease of cardiovascular system An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. http://purl.obolibrary.org/obo/SO_0002090 3_prime_UTR_intron_variant http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/DOID_1123 spondyloarthropathy http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080768 pyridoxine-dependent epilepsy http://purl.obolibrary.org/obo/DOID_1826 epilepsy An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/DOID_12225 Plica syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080769 early-onset vitamin B6-dependent epilepsy 1 http://purl.obolibrary.org/obo/DOID_0080768 pyridoxine-dependent epilepsy A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. http://purl.obolibrary.org/obo/SO_0002018 conserved_intron_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/DOID_13781 hypermobility syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080770 autosomal dominant beta thalassemia http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. http://purl.obolibrary.org/obo/SO_0001574 splice_acceptor_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/DOID_14107 De Quervain disease http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080771 beta-thalassemia major http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. http://purl.obolibrary.org/obo/SO_0001575 splice_donor_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/SO_0001787 splice_donor_5th_base_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/DOID_14276 shoulder impingement syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080772 beta-thalassemia intermedia http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. http://purl.obolibrary.org/obo/SO_0002084 exonic_splice_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/DOID_14284 patellofemoral pain syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080773 delta beta-thalassemia http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. http://purl.obolibrary.org/obo/SO_0002170 splice_donor_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/DOID_14286 neurogenic arthropathy http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080774 thalassemia minor http://purl.obolibrary.org/obo/DOID_12241 beta thalassemia A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia. http://purl.obolibrary.org/obo/DOID_0080775 complete androgen insensitivity syndrome http://purl.obolibrary.org/obo/DOID_4674 androgen insensitivity syndrome An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. http://purl.obolibrary.org/obo/SO_0001635 5KB_upstream_variant http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/DOID_1670 Behcet's syndrome arthropathy http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080776 partial androgen insensitivity syndrome http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. http://purl.obolibrary.org/obo/SO_0001636 2KB_upstream_variant http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/DOID_2092 transient arthritis http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_0080777 lung sarcomatoid carcinoma http://purl.obolibrary.org/obo/DOID_3905 lung carcinoma A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. http://purl.obolibrary.org/obo/SO_0001633 5KB_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/DOID_13169 spermatic cord cancer http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_0080778 transient infantile liver failure http://purl.obolibrary.org/obo/DOID_409 liver disease A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. http://purl.obolibrary.org/obo/SO_0001634 500B_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/DOID_518 scrotum neoplasm http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/SO_0002083 2KB_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/SYMP_0020013 abnormal weight loss http://purl.obolibrary.org/obo/SYMP_0000178 weight loss A weight loss that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying. http://purl.obolibrary.org/obo/DOID_5639 rete testis neoplasm http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_10880 iliac vein thrombophlebitis http://purl.obolibrary.org/obo/DOID_3875 thrombophlebitis http://purl.obolibrary.org/obo/SYMP_0020014 chronic weight loss http://purl.obolibrary.org/obo/SYMP_0000178 weight loss A weight loss that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both. http://purl.obolibrary.org/obo/SO_0001820 inframe_indel http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/DOID_12282 femoral vein thrombophlebitis http://purl.obolibrary.org/obo/DOID_3875 thrombophlebitis http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/SYMP_0020016 acute weight gain http://purl.obolibrary.org/obo/SYMP_0000403 weight gain A weight gain that is characterized by a severe and sudden onset. http://purl.obolibrary.org/obo/DOID_10778 fiedler's myocarditis http://purl.obolibrary.org/obo/DOID_3951 acute myocarditis http://purl.obolibrary.org/obo/SO_0001775 maternal_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/SYMP_0020017 chronic weight gain http://purl.obolibrary.org/obo/SYMP_0000403 weight gain A weight gain that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both. http://purl.obolibrary.org/obo/SYMP_0020018 overweight http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by being too heavy for one’s height. Excess body weight can come from fat, muscle, bone, and/or water retention. Being overweight does not always mean being obese. http://purl.obolibrary.org/obo/DOID_10493 adrenal cortical hypofunction http://purl.obolibrary.org/obo/DOID_3952 adrenal cortex disease http://purl.obolibrary.org/obo/SO_0001776 paternal_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/SYMP_0020019 postnasal drainage http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom A nose symptom that is characterized by an an excessive secretion of mucous down the back of the throat. http://purl.obolibrary.org/obo/DOID_12932 endomyocardial fibrosis http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy http://purl.obolibrary.org/obo/SO_0001777 somatic_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/DOID_0070568 spermatogenic failure 69 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2. http://purl.obolibrary.org/obo/DOID_12935 alcoholic cardiomyopathy http://purl.obolibrary.org/obo/DOID_3978 extrinsic cardiomyopathy http://purl.obolibrary.org/obo/SO_0001778 germline_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/DOID_0060992 bent bone dysplasia syndrome 1 http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. http://purl.obolibrary.org/obo/DOID_5749 pulmonary valve disease http://purl.obolibrary.org/obo/DOID_4079 heart valve disease http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. http://purl.obolibrary.org/obo/DOID_61 mitral valve disease http://purl.obolibrary.org/obo/DOID_4079 heart valve disease http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/DOID_0061023 nonphotosensitive trichothiodystrophy 8 http://purl.obolibrary.org/obo/DOID_0111867 nonphotosensitive trichothiodystrophy A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. http://purl.obolibrary.org/obo/DOID_5082 liver cirrhosis http://purl.obolibrary.org/obo/DOID_409 liver disease http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/DOID_0070635 cardiovascular-kidney-metabolic syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity. http://purl.obolibrary.org/obo/DOID_13168 prepuce cancer http://purl.obolibrary.org/obo/DOID_4159 skin cancer http://purl.obolibrary.org/obo/SO_0001823 conservative_inframe_insertion http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/SYMP_0000007 bleeding http://purl.obolibrary.org/obo/SYMP_0000567 general symptom A general symptom that is characterized as an act, instance, or result of being bled or the process by which something is bled: as a the escape of blood from vessels. http://purl.obolibrary.org/obo/DOID_1577 limited scleroderma http://purl.obolibrary.org/obo/DOID_418 systemic scleroderma http://purl.obolibrary.org/obo/SO_0001824 disruptive_inframe_insertion http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/SYMP_0000009 blister http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by a fluid-filled elevation of the epidermis. http://purl.obolibrary.org/obo/DOID_1578 pulmonary systemic sclerosis http://purl.obolibrary.org/obo/DOID_850 lung disease http://purl.obolibrary.org/obo/SO_0001825 conservative_inframe_deletion http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/SO_0001826 disruptive_inframe_deletion http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/SYMP_0000022 depression http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a chronic feeling of emptiness, sadness, or inability to feel pleasure that may appear to happen for no clear reason. Additionally one may experience feelings of hopelessness, pessimism, irritability, frustration, or restlessness, guilt, worthlessness and thoughts of death or suicide. http://purl.obolibrary.org/obo/DOID_1580 diffuse scleroderma http://purl.obolibrary.org/obo/DOID_418 systemic scleroderma http://purl.obolibrary.org/obo/SO_0001017 silent_mutation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SYMP_0000025 dry cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by a lack of accompanied phlegm production. http://purl.obolibrary.org/obo/DOID_4195 hyperglycemia http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease http://purl.obolibrary.org/obo/SO_0001566 regulatory_region_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SYMP_0000040 hematuria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the presence of blood or blood cells in the urine. http://purl.obolibrary.org/obo/DOID_10603 glucose intolerance http://purl.obolibrary.org/obo/DOID_4195 hyperglycemia http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SYMP_0000056 hyperpigmentation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an excess pigmentation in a bodily part or tissue, as the skin. http://purl.obolibrary.org/obo/DOID_11669 hypertrichosis of eyelid http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/DOID_929 myopathy of extraocular muscle http://purl.obolibrary.org/obo/DOID_423 myopathy http://purl.obolibrary.org/obo/DOID_10989 conjunctival vascular disease http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/DOID_11653 conjunctival deposit http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/DOID_1248 ocular hyperemia http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/DOID_14043 neonatal myasthenia gravis http://purl.obolibrary.org/obo/DOID_437 myasthenia gravis http://purl.obolibrary.org/obo/SO_0001907 feature_elongation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SYMP_0000061 inflammation http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Inflammation is a general symptom where there is a local response to cellular injury that is marked by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling, and often loss of function and that serves as a mechanism initiating the elimination of noxious agents and of damaged tissue. http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/DOID_4448 macular degeneration http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SO_0001893 transcript_ablation http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/SYMP_0000064 joint pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a pain situated, or occurring, in or around a joint. http://purl.obolibrary.org/obo/DOID_4479 pseudohypoaldosteronism http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease http://purl.obolibrary.org/obo/SO_0001894 regulatory_region_ablation http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/SYMP_0000075 lethargy http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by abnormal drowsiness. http://purl.obolibrary.org/obo/DOID_11671 hypotrichosis of eyelid http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/SO_0001889 transcript_amplification http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/SO_0001891 regulatory_region_amplification http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000892 sensation perception A sensation perception that is characterized by an unpleasant sensation that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual, confined to one area or spread over the entire body. http://purl.obolibrary.org/obo/DOID_11240 appendiceal neoplasm http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm http://purl.obolibrary.org/obo/DOID_7505 small intestine benign neoplasm http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm http://purl.obolibrary.org/obo/SO_0001883 transcript_translocation http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/SYMP_0000116 prostration http://purl.obolibrary.org/obo/SYMP_0000567 general symptom Prostration is a general symptom characterized by complete physical or mental exhaustion. http://purl.obolibrary.org/obo/DOID_11382 corneal neovascularization http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/SO_0001884 regulatory_region_translocation http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/SYMP_0000131 severe joint pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around a joint that is intense (severe). http://purl.obolibrary.org/obo/SO_0001886 transcript_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/DOID_11871 macular keratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/SO_0001887 regulatory_region_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/SYMP_0000136 skin ulcer http://purl.obolibrary.org/obo/SYMP_0000092 skin lesion A skin lesion that is characterized by a break in skin with loss of surface tissue, disintegration and necrosis of epithelial tissue, and often pus. http://purl.obolibrary.org/obo/DOID_12196 superficial keratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/SO_0001890 transcript_regulatory_region_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/SYMP_0000139 sneezing http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a sudden violent spasmodic audible expiration of breath through the nose and mouth especially as a reflex act following irritation of the nasal mucous membrane. http://purl.obolibrary.org/obo/DOID_13626 photokeratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/SO_0001885 TFBS_translocation http://purl.obolibrary.org/obo/SO_0001884 regulatory_region_translocation http://purl.obolibrary.org/obo/SYMP_0000178 weight loss http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by a reduction of the total body mass, by a mean loss of fluid, body fat (adipose tissue), or lean mass (namely bone mineral deposits, muscle, tendon, and other connective tissue). Weight loss can either occur unintentionally because of malnourishment or an underlying disease. http://purl.obolibrary.org/obo/DOID_9858 deep keratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/SO_0001888 TFBS_fusion http://purl.obolibrary.org/obo/SO_0001887 regulatory_region_fusion http://purl.obolibrary.org/obo/SYMP_0000185 weariness http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by a feeling of exhaustion in strength, endurance, and vigor. http://purl.obolibrary.org/obo/DOID_10661 mediastinum ganglioneuroblastoma http://purl.obolibrary.org/obo/DOID_4691 malignant mediastinal neurogenic neoplasm http://purl.obolibrary.org/obo/SO_0001892 TFBS_amplification http://purl.obolibrary.org/obo/SO_0001891 regulatory_region_amplification http://purl.obolibrary.org/obo/SYMP_0000186 exhaustion http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by a feeling of weariness (bodily or mental) or feeling of weakness. Exhaustion is a shorter-lived form of fatigue that can be experienced emotionally, mentally, and physically. http://purl.obolibrary.org/obo/DOID_12064 mediastinum neurofibroma http://purl.obolibrary.org/obo/DOID_962 neurofibroma http://purl.obolibrary.org/obo/SO_0001895 TFBS_ablation http://purl.obolibrary.org/obo/SO_0001894 regulatory_region_ablation http://purl.obolibrary.org/obo/SYMP_0000187 tiredness http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by a feeling of a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a sense of weariness and fatigue. http://purl.obolibrary.org/obo/DOID_11132 prostatic hypertrophy http://purl.obolibrary.org/obo/DOID_47 prostate disease http://purl.obolibrary.org/obo/SO_0001587 stop_gained http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/SYMP_0000197 abortion http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by the expulsion of a fetus at any time before completion of pregnancy and is often due to infection. http://purl.obolibrary.org/obo/DOID_13689 prostate calculus http://purl.obolibrary.org/obo/DOID_9590 lower urinary tract calculus http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/SO_0001907 feature_elongation http://purl.obolibrary.org/obo/SYMP_0000198 miscarriage http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by the spontaneous expulsion of a human fetus before it is viable and especially between the 12th and 28th weeks of gestation. http://purl.obolibrary.org/obo/DOID_14654 prostatitis http://purl.obolibrary.org/obo/DOID_47 prostate disease http://purl.obolibrary.org/obo/SO_0001988 5_prime_UTR_premature_start_codon_gain_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/SYMP_0000199 spontaneous abortion http://purl.obolibrary.org/obo/SYMP_0000197 abortion An abortion that is characterized by the natural occurring expulsion of a nonviable fetus. http://purl.obolibrary.org/obo/DOID_4203 brain stem cancer http://purl.obolibrary.org/obo/DOID_4706 infratentorial cancer http://purl.obolibrary.org/obo/SO_0001989 5_prime_UTR_premature_start_codon_loss_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/SYMP_0000207 afebrile http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by the state of being free from fever. http://purl.obolibrary.org/obo/DOID_14066 acute diffuse nephritis http://purl.obolibrary.org/obo/DOID_4781 diffuse glomerulonephritis http://purl.obolibrary.org/obo/DOID_10835 chylocele of tunica vaginalis http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/SO_0001990 five_prime_UTR_premature_start_codon_location_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/SYMP_0000235 colic http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by the condition marked by recurrent episodes of prolonged and uncontrollable crying and irritability in an otherwise healthy infant that is of unknown cause and usually subsides after three to four months of age. http://purl.obolibrary.org/obo/DOID_11997 spermatocele http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/SYMP_0000237 congestion http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an excessive accumulation especially of blood or mucus. http://purl.obolibrary.org/obo/DOID_12333 male genital organ stricture http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/SO_0002009 selenocysteine_loss http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/SYMP_0000243 cyclic fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by occurring during periodic episodes. http://purl.obolibrary.org/obo/DOID_12335 male genital organ vascular disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/SO_0002010 pyrrolysine_loss http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/SYMP_0000263 epididymitis http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by an inflammation of the epididymis. http://purl.obolibrary.org/obo/DOID_12336 male infertility http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/SO_0002317 absent_gene_product http://purl.obolibrary.org/obo/SO_0002316 decreased_gene_product_level http://purl.obolibrary.org/obo/SYMP_0000264 epididymorchitis http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by inflammation of the epididymis and/or testicle (testis). http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/SO_0002076 incomplete_transcript_3UTR_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SYMP_0000279 extreme exhaustion http://purl.obolibrary.org/obo/SYMP_0000186 exhaustion An exhaustion that is characterized by exceeding the ordinary, usual, or expected. http://purl.obolibrary.org/obo/DOID_47 prostate disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/SO_0002077 incomplete_transcript_5UTR_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SYMP_0000280 extreme fatigue http://purl.obolibrary.org/obo/SYMP_0019177 fatigue A fatigue that is characterized by exceeding the ordinary, usual, or expected. http://purl.obolibrary.org/obo/DOID_9365 vesiculitis http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_13839 extrapyramidal and movement disease http://purl.obolibrary.org/obo/DOID_480 movement disease http://purl.obolibrary.org/obo/SO_0002078 incomplete_transcript_intronic_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SYMP_0000324 bronchitis http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an acute or chronic inflammation of the bronchial tubes. http://purl.obolibrary.org/obo/DOID_1713 benign shuddering attacks http://purl.obolibrary.org/obo/DOID_480 movement disease http://purl.obolibrary.org/obo/SO_0002079 incomplete_transcript_splice_region_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SYMP_0000358 premature labor http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by labor occurring before 37 full weeks of pregnancy. http://purl.obolibrary.org/obo/DOID_14463 cavernous hemangioma of orbit http://purl.obolibrary.org/obo/DOID_483 cavernous hemangioma http://purl.obolibrary.org/obo/SO_0002080 incomplete_transcript_exonic_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SYMP_0000372 rhinorrhea http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom A nose symptom that is characterized by an excessive secretion of mucous through the nose. http://purl.obolibrary.org/obo/DOID_14491 regional ureteric cancer http://purl.obolibrary.org/obo/DOID_4939 ureter carcinoma http://purl.obolibrary.org/obo/SO_0002081 incomplete_transcript_CDS http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SYMP_0000398 vaginal discharge http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by fluid made by glands inside the vagina and cervix carrying away dead cells and bacteria. While it is normal for odor and color to vary, vaginal itching or burning may be indicative of an infection. http://purl.obolibrary.org/obo/DOID_12424 thyrocalcitonin secretion disease http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease http://purl.obolibrary.org/obo/SO_0002082 incomplete_transcript_coding_splice_variant http://purl.obolibrary.org/obo/SO_0002079 incomplete_transcript_splice_region_variant http://purl.obolibrary.org/obo/SYMP_0000403 weight gain http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by an increase in body weight. This can involve an increase in muscle mass, fat deposits, excess fluids such as water or other factors. http://purl.obolibrary.org/obo/DOID_12837 thyroid crisis http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease http://purl.obolibrary.org/obo/SO_1000029 chromosomal_deletion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SYMP_0000405 vaginismus http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by a painful spasmodic contraction of the vagina. http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease http://purl.obolibrary.org/obo/SO_1000030 chromosomal_inversion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SYMP_0000406 bruise http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an injury transmitted through unbroken skin to underlying tissue causing rupture of small blood vessels and escape of blood into the tissue with resulting discoloration. http://purl.obolibrary.org/obo/DOID_1660 malignant pineal area germ cell neoplasm http://purl.obolibrary.org/obo/DOID_5032 pineal gland cancer http://purl.obolibrary.org/obo/SO_1000045 ring_chromosome http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SYMP_0000407 syncope http://purl.obolibrary.org/obo/SYMP_0000482 alteration of consciousness An alteration of consciousness that is characterized by a loss of consciousness resulting from insufficient blood flow to the brain. http://purl.obolibrary.org/obo/DOID_1108 esophagus melanoma http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer http://purl.obolibrary.org/obo/SO_0002060 interchromosomal_translocation http://purl.obolibrary.org/obo/SO_1000044 chromosomal_translocation http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SYMP_0000409 hyperthermia http://purl.obolibrary.org/obo/SYMP_0000882 high fever A high fever that is characterized by an exceptionally high fever especially when induced artificially for therapeutic purposes. http://purl.obolibrary.org/obo/DOID_14018 alcoholic liver cirrhosis http://purl.obolibrary.org/obo/DOID_0070658 alcohol-associated liver disease http://purl.obolibrary.org/obo/SYMP_0000412 anxiety http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill. http://purl.obolibrary.org/obo/SO_1000037 chromosomal_duplication http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/DOID_10964 cholesteatoma of middle ear http://purl.obolibrary.org/obo/DOID_869 cholesteatoma http://purl.obolibrary.org/obo/SYMP_0000422 dyspepsia http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom Dyspepsia is a digestive system symptom referred to as indigestion resulting from an impairment to digestion caused by ulcer, gall bladder disease or inflamed colon. Related symptoms include weakness, loss of appetite, and depression. http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_5100 middle ear disease http://purl.obolibrary.org/obo/SO_1000044 chromosomal_translocation http://purl.obolibrary.org/obo/SO_0000199 translocation http://purl.obolibrary.org/obo/SYMP_0000434 urticaria http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by raised red skin wheals (welts) commonly caused by an allergic reaction with wheals that may vary in size from about 5 mm (0.2 inches) in diameter to the size of a dinner plate that are described as severely itchy a stingnig or burning sensation, and having a pale border. http://purl.obolibrary.org/obo/DOID_14032 malignant parietal pleura tumor http://purl.obolibrary.org/obo/DOID_5158 pleural cancer http://purl.obolibrary.org/obo/SYMP_0000195 abnormal hemiwalking hemistanding http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/SYMP_0000436 abnormal vaginal bleeding http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by bleeding from the uterus that is longer than usual or that occurs at an irregular time. Bleeding may be heavier or lighter than usual and occur often or randomly. http://purl.obolibrary.org/obo/DOID_14033 malignant visceral pleura tumor http://purl.obolibrary.org/obo/DOID_5158 pleural cancer http://purl.obolibrary.org/obo/SYMP_0000670 abnormal hemiwalking http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/SYMP_0000440 hair loss http://purl.obolibrary.org/obo/SYMP_0020040 hair symptom A hair symptom that is characterized by the stopping of hair growth (regeneration), which may be a result of hereditary hair loss, immune system overreacts, drugs and treatments, harsh hair-care products, and other factors. http://purl.obolibrary.org/obo/DOID_14175 von Hippel-Lindau disease http://purl.obolibrary.org/obo/DOID_5241 hemangioblastoma http://purl.obolibrary.org/obo/SYMP_0000190 wheelbarrowing http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/SYMP_0000441 elbow pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the elbow. http://purl.obolibrary.org/obo/DOID_10486 intestinal atresia http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/SYMP_0000669 abnormal hemistanding http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/SYMP_0000442 knee pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the knee. http://purl.obolibrary.org/obo/DOID_10607 tropical sprue http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/NCBITaxon_73230 [Emmonsia] crescens http://purl.obolibrary.org/obo/NCBITaxon_1955773 Emergomyces http://purl.obolibrary.org/obo/SYMP_0000443 shoulder pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the shoulder. http://purl.obolibrary.org/obo/DOID_10611 protein-losing enteropathy http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/DOID_1285 rectal disease http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/SYMP_0000448 epistaxis http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom A nose symptom that involves a is loss of blood from the tissue lining the nose. http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/DOID_13248 mucocele of appendix http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/SYMP_0000455 abnormal weight gain http://purl.obolibrary.org/obo/SYMP_0000403 weight gain A weight gain that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying. http://purl.obolibrary.org/obo/NCBITaxon_6246 Strongyloididae http://purl.obolibrary.org/obo/NCBITaxon_2082224 Strongyloidoidea http://purl.obolibrary.org/obo/DOID_13249 pneumatosis cystoides intestinalis http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by occurring in the abdomen, i.e. between the chest and groin. http://purl.obolibrary.org/obo/DOID_13419 neurogenic bowel http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/NCBITaxon_60516 Dibothriocephalus latus http://purl.obolibrary.org/obo/NCBITaxon_2267273 Dibothriocephalus http://purl.obolibrary.org/obo/CHEBI_53662 biguanides http://purl.obolibrary.org/obo/CHEBI_24436 guanidines http://purl.obolibrary.org/obo/SYMP_0000458 nausea http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom Nausea is a digestive system symptom characterized by an uneasy or unsettled feeling in the stomach together with an urge to vomit. http://purl.obolibrary.org/obo/DOID_3646 necrosis of pituitary http://purl.obolibrary.org/obo/DOID_53 pituitary gland disease http://purl.obolibrary.org/obo/CHEBI_55373 isoxazoles http://purl.obolibrary.org/obo/CHEBI_35790 oxazole http://purl.obolibrary.org/obo/SYMP_0000475 underweight http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom A weight symptom that is characterized by weighing less than the normal amount for one's age, height, and build. http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/CHEBI_26401 purines http://purl.obolibrary.org/obo/CHEBI_35875 imidazopyrimidine http://purl.obolibrary.org/obo/SYMP_0000485 dysuria http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the difficult, or painful, discharge of urine. http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/CHEBI_22693 barbiturates http://purl.obolibrary.org/obo/CHEBI_38337 pyrimidone http://purl.obolibrary.org/obo/SYMP_0000487 rash http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an eruption on the body typically with little or no elevation above the surface. http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/CHEBI_33365 platinum group metal atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom A skin and integumentary tissue symptom that is characterized by the outer layer of the skin starting to replace itself. Often, this happens when skin is damaged, either by disease or injury. http://purl.obolibrary.org/obo/DOID_12514 retinal perforation http://purl.obolibrary.org/obo/DOID_5327 retinal detachment http://purl.obolibrary.org/obo/CHEBI_36388 saturated organic heterocyclic parent http://purl.obolibrary.org/obo/CHEBI_35552 heterocyclic organic fundamental parent http://purl.obolibrary.org/obo/SYMP_0000492 urinary incontinence http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom A urinary system symptom that is characterized by the an inability of the body to control the evacuative functions. http://purl.obolibrary.org/obo/DOID_11189 pulp degeneration http://purl.obolibrary.org/obo/DOID_5330 dental pulp disease http://purl.obolibrary.org/obo/CHEBI_36607 cyclic acid anhydride http://purl.obolibrary.org/obo/CHEBI_36606 acid anhydride http://purl.obolibrary.org/obo/SYMP_0000494 renal colic http://purl.obolibrary.org/obo/SYMP_0000235 colic A colic that is characterized by a severe pain produced by the passage of a calculus from the kidney through the ureter. http://purl.obolibrary.org/obo/DOID_10655 lipoma of colon http://purl.obolibrary.org/obo/DOID_6460 large intestine lipoma http://purl.obolibrary.org/obo/CHEBI_53556 toluene 2,4-diisocyanate http://purl.obolibrary.org/obo/CHEBI_53555 toluene meta-diisocyanate http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a pain in the head. http://purl.obolibrary.org/obo/DOID_10656 colon leiomyoma http://purl.obolibrary.org/obo/DOID_5353 colonic disease http://purl.obolibrary.org/obo/SO_0000135 maternally_imprinted http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/SYMP_0000517 hemoptysis http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an expectoration of blood from some part of the respiratory tract. http://purl.obolibrary.org/obo/DOID_11371 functional diarrhea http://purl.obolibrary.org/obo/DOID_5353 colonic disease http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/SYMP_0000518 generalized abdominal pain http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain An abdominal pain that is characterized by being diffuse or widespread and affecting or involving all of the abdomen. http://purl.obolibrary.org/obo/DOID_13135 exophthalmic ophthalmoplegia http://purl.obolibrary.org/obo/DOID_539 ophthalmoplegia http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SYMP_0000530 palpitation http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom Palpitation is a cardiovascykar system symptom characterized by an abnormal awareness of the beating of the heart,whether it is too slow, too fast, irregular, or at its normal frequency when excited by violent exertion, strong emotion, or disease. http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/NCBITaxon_5552 Trichosporon http://purl.obolibrary.org/obo/NCBITaxon_1759442 Trichosporonaceae http://purl.obolibrary.org/obo/SYMP_0000542 epigastric abdominal pain http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain An abdominal pain that is characterized by occurring in the epigastrium, i.e. the upper part of the abdomen below the rib cage. http://purl.obolibrary.org/obo/DOID_1143 exotropia http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/NCBITaxon_333754 Alphapapillomavirus 10 http://purl.obolibrary.org/obo/NCBITaxon_333750 Alphapapillomavirus http://purl.obolibrary.org/obo/SYMP_0000543 memory loss http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by an unusual forgetfulness. One may not be able to remember new events, recall one or more memories of the past, or both. Memory loss may be for a short time and then resolve (transient), or it may not go away and get worse over time. http://purl.obolibrary.org/obo/DOID_12445 conjugate gaze palsy http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/NCBITaxon_32594 Babesiidae http://purl.obolibrary.org/obo/NCBITaxon_5863 Piroplasmida http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom Diarrhea is a feces and droppng symptom involving the abnormally frequent intestinal evacuations with more or less fluid stools. http://purl.obolibrary.org/obo/DOID_12667 binocular vision disease http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/NCBITaxon_31244 Schistosomatoidea http://purl.obolibrary.org/obo/NCBITaxon_6180 Strigeidida http://purl.obolibrary.org/obo/SYMP_0000587 abnormal chest sound http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by a sound of breathing that is not similar to that of the sound of moving air and may include: rhonchi (a low-pitched breath sound), crackles (a high-pitched breath sound), wheezing (a high-pitched whistling sound caused by narrowing of the bronchial tubes), and stridor (a harsh, vibratory sound caused by narrowing of the upper airway). http://purl.obolibrary.org/obo/DOID_9306 mechanical strabismus http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_12679 nephrocalcinosis http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/NCBITaxon_27847 Echinostoma http://purl.obolibrary.org/obo/NCBITaxon_99737 Echinostomatidae http://purl.obolibrary.org/obo/SYMP_0000596 convulsion http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by an abnormal violent and involuntary contraction or series of contractions of the muscles. http://purl.obolibrary.org/obo/DOID_13068 renal osteodystrophy http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/NCBITaxon_3052189 Erythroparvovirus primate1 http://purl.obolibrary.org/obo/NCBITaxon_40121 Erythroparvovirus http://purl.obolibrary.org/obo/DOID_2744 pyelitis http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/SYMP_0000602 orthopnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by a difficulty in breathing that occurs when lying down and is relieved upon changing to an upright position (as in congestive heart failure). http://purl.obolibrary.org/obo/NCBITaxon_1538075 Malasseziomycetes http://purl.obolibrary.org/obo/NCBITaxon_452284 Ustilaginomycotina http://purl.obolibrary.org/obo/DOID_3116 kidney benign neoplasm http://purl.obolibrary.org/obo/DOID_731 urinary system benign neoplasm http://purl.obolibrary.org/obo/SYMP_0000604 wheezing http://purl.obolibrary.org/obo/SYMP_0000587 abnormal chest sound An abnormal chest sound that is characterized by breathing with difficulty usually with a whistling sound. http://purl.obolibrary.org/obo/NCBITaxon_742845 Malasseziaceae http://purl.obolibrary.org/obo/NCBITaxon_162474 Malasseziales http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_12098 trigeminal neuralgia http://purl.obolibrary.org/obo/DOID_561 trigeminal nerve disease http://purl.obolibrary.org/obo/SYMP_0000613 fever http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a rise of body temperature above the normal, whether as a natural response (as to infection) or artificially induced for therapeutic reasons. http://purl.obolibrary.org/obo/NCBITaxon_1759442 Trichosporonaceae http://purl.obolibrary.org/obo/NCBITaxon_1851469 Trichosporonales http://purl.obolibrary.org/obo/DOID_1140 spinal canal and spinal cord meningioma http://purl.obolibrary.org/obo/DOID_5612 spinal cancer http://purl.obolibrary.org/obo/SYMP_0000614 cough http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance. http://purl.obolibrary.org/obo/NCBITaxon_55193 Malassezia http://purl.obolibrary.org/obo/NCBITaxon_742845 Malasseziaceae http://purl.obolibrary.org/obo/DOID_13742 neurofibroma of spinal cord http://purl.obolibrary.org/obo/DOID_962 neurofibroma http://purl.obolibrary.org/obo/SYMP_0000632 hip pain http://purl.obolibrary.org/obo/SYMP_0000064 joint pain A joint pain that is characterized by a pain situated, or occurring, in or around the hip. http://purl.obolibrary.org/obo/SYMP_0000531 splenomegaly http://purl.obolibrary.org/obo/SYMP_0000158 spleen symptom http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/SYMP_0000675 acute diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea Acute diarrhea is a diarrhea with either or both a rapid onset or a short course. http://purl.obolibrary.org/obo/NCBITaxon_629 Yersinia http://purl.obolibrary.org/obo/NCBITaxon_1903411 Yersiniaceae http://purl.obolibrary.org/obo/DOID_238 pupil disease http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/SYMP_0000679 acute dyspnea http://purl.obolibrary.org/obo/SYMP_0019153 dyspnea A dyspnea that is characterized by a severe and sudden onset. http://purl.obolibrary.org/obo/SYMP_0000680 acute weight loss http://purl.obolibrary.org/obo/SYMP_0000178 weight loss A weight loss that is characterized by a severe and sudden onset. http://purl.obolibrary.org/obo/NCBITaxon_160148 Troctomorpha http://purl.obolibrary.org/obo/NCBITaxon_1930602 Psocodea http://purl.obolibrary.org/obo/DOID_790 ocular hypotension http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/SYMP_0000686 chronic cough http://purl.obolibrary.org/obo/SYMP_0000614 cough A cough that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance marked by long duration, by frequent recurrence over a long time, and often by slowly progressing seriousness. http://purl.obolibrary.org/obo/SYMP_0000712 infertility http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized the biological inability of a man or a woman to contribute to conception; or, the state of a woman who is unable to carry a pregnancy to full term. http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/SYMP_0000742 gum bleeding http://purl.obolibrary.org/obo/SYMP_0000655 mouth bleeding Gum bleeding is a mouth symptom characterized by a copious discharge of blood from the blood vessels of the mucosal tissue that lies over the alveolar bone. http://purl.obolibrary.org/obo/NCBITaxon_1980517 Orthonairovirus http://purl.obolibrary.org/obo/NCBITaxon_1980415 Nairoviridae http://purl.obolibrary.org/obo/DOID_8886 chorioretinitis http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/SYMP_0000756 menorrhagia http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized an abnormally profuse menstrual flow. http://purl.obolibrary.org/obo/NCBITaxon_1980456 Orthohantavirus andesense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/SYMP_0000828 sore eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom Sore eyes is a eye symptom characterized by an inflammation of the thin covering of the eyeball and the inner eyelid brought about by a viral infection which may be highly contagious. http://purl.obolibrary.org/obo/NCBITaxon_3052480 Orthohantavirus hantanense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/SYMP_0000849 stillbirth http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom A reproductive system symptom that is characterized by the birth of a dead fetus; in which a fetus that has died in the uterus, or during labor, or delivery, exits a woman's body. http://purl.obolibrary.org/obo/NCBITaxon_3052493 Orthohantavirus puumalaense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_9835 refractive error http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/SYMP_0000854 hypermenorrhea http://purl.obolibrary.org/obo/SYMP_0000756 menorrhagia A menorrhagia that is characterized by an abnormally profuse or prolonged menstrual flow. http://purl.obolibrary.org/obo/NCBITaxon_3052498 Orthohantavirus seoulense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_11550 oculomotor nerve paralysis http://purl.obolibrary.org/obo/DOID_562 third cranial nerve disease http://purl.obolibrary.org/obo/SYMP_0000855 metrorrhagia http://purl.obolibrary.org/obo/SYMP_0000756 menorrhagia A menorrhagia that is characterized by an irregular uterine bleeding, especially between menstrual periods. http://purl.obolibrary.org/obo/NCBITaxon_3431295 Orthohantavirus mamorense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_13864 trochlear nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/SYMP_0000868 breathing problems http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by a shortness of breath, a hard or uncomfortable intake of air, or the feeling that you're not getting enough air. http://purl.obolibrary.org/obo/NCBITaxon_3052470 Orthohantavirus bayoui http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_561 trigeminal nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/SYMP_0000869 nasal congestion http://purl.obolibrary.org/obo/SYMP_0000237 congestion A congestion that is characterized by a blockage of the nasal passages, usually due to the membranes lining the nose becoming swollen from inflamed blood vessels. http://purl.obolibrary.org/obo/NCBITaxon_3052477 Orthohantavirus dobravaense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_562 third cranial nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/SYMP_0000870 icteric eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom Icteric eyes is a eye symptom characterized by yellowed eyes due to bile or bilirubin accumulation. http://purl.obolibrary.org/obo/SYMP_0000873 otitis http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom Otitis is a ear symptom characterized as a general term for inflammation or infection of the ear, in both humans and other animals. http://purl.obolibrary.org/obo/NCBITaxon_3052490 Orthohantavirus nigrorivense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_14165 bilateral hyperactive labyrinth http://purl.obolibrary.org/obo/DOID_566 labyrinthine dysfunction http://purl.obolibrary.org/obo/SYMP_0000878 transient fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by a rise of body temperature above the normal that is sustained for only a short period of time. http://purl.obolibrary.org/obo/SYMP_0000879 low-grade fever http://purl.obolibrary.org/obo/SYMP_0000881 mild fever A mild fever that is characterized by a fever that does not exceed 38.5 degrees Celsius (101.3 degrees Fahrenheit). http://purl.obolibrary.org/obo/NCBITaxon_3052499 Orthohantavirus sinnombreense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_14413 labyrinthine bilateral reactive loss http://purl.obolibrary.org/obo/DOID_566 labyrinthine dysfunction http://purl.obolibrary.org/obo/SYMP_0000880 prolonged fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by as persisting over a prolonged period of time. http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_2732559 Rowavirales http://purl.obolibrary.org/obo/DOID_11086 chorioretinal scar http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/SYMP_0000881 mild fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by being mild in form. http://purl.obolibrary.org/obo/NCBITaxon_10293 Alphaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/DOID_11561 hypertensive retinopathy http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/SYMP_0000882 high fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by an elevated temperature. http://purl.obolibrary.org/obo/NCBITaxon_10357 Betaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/DOID_13025 retinopathy of prematurity http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/SYMP_0000883 very high fever http://purl.obolibrary.org/obo/SYMP_0000882 high fever A high fever that is characterized by extremely high temperatures. http://purl.obolibrary.org/obo/NCBITaxon_10374 Gammaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/DOID_13401 angioid streaks http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/SYMP_0000886 hyperpyrexia http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by an extreme elevation of body temperature greater than, or equal to, 41.5 degrees Celsius (106.7 degrees Fahrenheit). http://purl.obolibrary.org/obo/HP_0004340 Abnormal circulating vitamin B concentration http://purl.obolibrary.org/obo/HP_0020350 Abnormal circulating vitamin concentration http://purl.obolibrary.org/obo/DOID_14000 rubeosis iridis http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/SYMP_0000887 Pel-Epstein fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by association with Hodgkin's lymphoma, where the fever alternates weekly from high to low. http://purl.obolibrary.org/obo/GENO_0000941 Y-linked inheritance http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/DOID_3612 retinitis http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/SYMP_0000888 continuous fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by a temperature remaining above normal throughout the day and which does not fluctuate more than 1 degree Celsius in 24 hours. http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/DOID_5327 retinal detachment http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/SYMP_0000889 remittent fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by a fever where the temperature remains above normal throughout the day and fluctuates more than 1 degree Celsius in 24 hours. http://purl.obolibrary.org/obo/SYMP_0020064 high blood pressure http://purl.obolibrary.org/obo/SYMP_0020063 blood pressure http://purl.obolibrary.org/obo/DOID_11831 cortical blindness http://purl.obolibrary.org/obo/DOID_5691 visual cortex disease http://purl.obolibrary.org/obo/SYMP_0000890 relapsing fever http://purl.obolibrary.org/obo/SYMP_0000613 fever A fever that is characterized by body temperature periodically rising and falling. http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_12168 ulnar nerve lesion http://purl.obolibrary.org/obo/DOID_572 mononeuritis of upper limb and mononeuritis multiplex http://purl.obolibrary.org/obo/SYMP_0000892 sensation perception http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by interpretation of the information perceived by sensory receptors. http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_10627 primary optic atrophy http://purl.obolibrary.org/obo/DOID_5723 optic atrophy http://purl.obolibrary.org/obo/SYMP_0019145 vomiting http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom Vomiting is a digestive system symptom characterized by throwing up the stomach contents. http://purl.obolibrary.org/obo/SYMP_0019153 dyspnea http://purl.obolibrary.org/obo/SYMP_0000598 respiratory abnormality A respiratory abnormality that is characterized by difficult or labored respiration. http://purl.obolibrary.org/obo/SO_0001986 upstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_10631 partial optic atrophy http://purl.obolibrary.org/obo/DOID_5723 optic atrophy http://purl.obolibrary.org/obo/DOID_10973 acute salpingitis http://purl.obolibrary.org/obo/DOID_5733 salpingitis http://purl.obolibrary.org/obo/SYMP_0019161 muscle pain http://purl.obolibrary.org/obo/SYMP_0000099 pain A pain that is characterized by a pain in one or more muscles. http://purl.obolibrary.org/obo/SO_0001987 downstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_5731 chronic salpingitis http://purl.obolibrary.org/obo/DOID_5733 salpingitis http://purl.obolibrary.org/obo/SYMP_0019177 fatigue http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom A neurological and physiological symptom that is characterized by a weariness or exhaustion from labor, exertion, or stress. http://purl.obolibrary.org/obo/SO_0002017 conserved_intergenic_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_13913 lumbosacral plexus lesion http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease http://purl.obolibrary.org/obo/SYMP_0019180 constipation http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom Constipation is a feces and droppings symptom involving the abnormally delayed or infrequent passage of dry hardened feces. Constipation may be categorized into three subtypes: normal-transit, slow-transit, and pelvic floor dysfunction. http://purl.obolibrary.org/obo/SO_0002074 intergenic_1kb_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_573 nerve compression syndrome http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease http://purl.obolibrary.org/obo/SYMP_0000023 disorientation http://purl.obolibrary.org/obo/SYMP_0000016 confusion A confusion that is characterized by an usually transient state of confusion especially as to time, place, or identity; often as a result of disease or drugs. http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/DOID_11217 chronic tympanitis http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/NCIT_C44357 Chromium Hexavalent Compound http://purl.obolibrary.org/obo/DISDRIV_0000006 chemical driver A highly corrosive, inorganic substance that contains the metallic element chromium in its positive-6 valence state. Chromium hexavalent compounds are used in stainless steel production, in chrome plating, in the manufacture of dyes and pigments, in leather tanning, in wood preservation and are used as corrosion inhibitors. Inhalation exposure of these compounds mainly affects the respiratory tract causing shortness of breath, nasal itching, asthma, coughing, bronchitis and pneumonia, but can also affect the liver, kidneys, gastrointestinal tract and the immune system. Chromium hexavalent compounds are carcinogenic in humans and are associated with an increased risk of developing lung cancer and cancer of the sinonasal cavity. http://purl.obolibrary.org/obo/GENO_0000932 polygenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/DOID_1214 tympanosclerosis http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_0080525 differentiated high-grade thyroid carcinoma http://purl.obolibrary.org/obo/DOID_0080524 thyroid gland adenocarcinoma A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. http://purl.obolibrary.org/obo/GENO_0000930 digenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/DOID_12546 atrophic nonflaccid tympanic membrane http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that involves multiple components of the immune system. http://purl.obolibrary.org/obo/GENO_0000931 oligogenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/DOID_13790 acute tympanitis http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_0080827 human cytomegalovirus infection http://purl.obolibrary.org/obo/DOID_934 viral infectious disease A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5). http://purl.obolibrary.org/obo/GENO_0000892 heteroplasmic mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/DOID_2860 hemoglobinopathy http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia http://purl.obolibrary.org/obo/DOID_0080828 VEXAS syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. http://purl.obolibrary.org/obo/GENO_0000893 homoplasmic mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/DOID_14534 malignant cardiac peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/DOID_5940 malignant peripheral nerve sheath tumor http://purl.obolibrary.org/obo/DOID_0080829 low grade glioma http://purl.obolibrary.org/obo/DOID_936 brain disease A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). http://purl.obolibrary.org/obo/NCBITaxon_11072 Japanese encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3048158 Orthoflavivirus japonicum http://purl.obolibrary.org/obo/DOID_14172 rheumatic congestive heart failure http://purl.obolibrary.org/obo/DOID_6000 congestive heart failure http://purl.obolibrary.org/obo/DOID_0080830 childhood low-grade glioma http://purl.obolibrary.org/obo/DOID_0080829 low grade glioma A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. http://purl.obolibrary.org/obo/NCBITaxon_11086 Louping ill virus http://purl.obolibrary.org/obo/NCBITaxon_3048184 Orthoflavivirus loupingi http://purl.obolibrary.org/obo/DOID_10485 esophageal atresia http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/NCBITaxon_11079 Murray Valley encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3048215 Orthoflavivirus murrayense http://purl.obolibrary.org/obo/DOID_0080932 primary localized cutaneous amyloidosis 3 http://purl.obolibrary.org/obo/DOID_0050639 primary cutaneous amyloidosis A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. http://purl.obolibrary.org/obo/DOID_112 esophageal varix http://purl.obolibrary.org/obo/DOID_866 vein disease http://purl.obolibrary.org/obo/NCBITaxon_11083 Powassan virus http://purl.obolibrary.org/obo/NCBITaxon_3048287 Orthoflavivirus powassanense http://purl.obolibrary.org/obo/DOID_0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. http://purl.obolibrary.org/obo/NCBITaxon_11082 West Nile virus http://purl.obolibrary.org/obo/NCBITaxon_3048448 Orthoflavivirus nilense http://purl.obolibrary.org/obo/NCBITaxon_11320 Influenza A virus http://purl.obolibrary.org/obo/NCBITaxon_2955291 Alphainfluenzavirus influenzae http://purl.obolibrary.org/obo/NCBITaxon_11250 human respiratory syncytial virus http://purl.obolibrary.org/obo/NCBITaxon_3049954 Orthopneumovirus hominis http://purl.obolibrary.org/obo/NCBITaxon_11552 Influenza C virus http://purl.obolibrary.org/obo/NCBITaxon_2955935 Gammainfluenzavirus influenzae http://purl.obolibrary.org/obo/DOID_11963 esophagitis http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/DOID_0112367 Coffin-Siris syndrome 8 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_0112368 Coffin-Siris syndrome 5 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. http://purl.obolibrary.org/obo/NCBITaxon_11577 La Crosse virus http://purl.obolibrary.org/obo/NCBITaxon_3052409 Orthobunyavirus lacrosseense http://purl.obolibrary.org/obo/DOID_13185 esophageal diverticulosis http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/DOID_13186 megaesophagus http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/DOID_0112369 Coffin-Siris syndrome 7 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. http://purl.obolibrary.org/obo/NCBITaxon_118655 Oropouche virus http://purl.obolibrary.org/obo/NCBITaxon_3052429 Orthobunyavirus oropoucheense http://purl.obolibrary.org/obo/NCBITaxon_213849 Campylobacterales http://purl.obolibrary.org/obo/NCBITaxon_3031852 Epsilonproteobacteria http://purl.obolibrary.org/obo/DOID_11502 mitral valve insufficiency http://purl.obolibrary.org/obo/DOID_61 mitral valve disease http://purl.obolibrary.org/obo/DOID_0112370 Coffin-Siris syndrome 12 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. http://purl.obolibrary.org/obo/DOID_11184 acute conjunctivitis http://purl.obolibrary.org/obo/DOID_6195 conjunctivitis http://purl.obolibrary.org/obo/DOID_2475 chronic conjunctivitis http://purl.obolibrary.org/obo/DOID_6195 conjunctivitis http://purl.obolibrary.org/obo/NCBITaxon_2560319 avian paramyxovirus 1 http://purl.obolibrary.org/obo/NCBITaxon_3051375 Orthoavulavirus javaense http://purl.obolibrary.org/obo/DOID_0112371 Coffin-Siris syndrome 10 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. http://purl.obolibrary.org/obo/DOID_12451 sulfhemoglobinemia http://purl.obolibrary.org/obo/DOID_620 blood protein disease http://purl.obolibrary.org/obo/NCBITaxon_1643688 Leptospirales http://purl.obolibrary.org/obo/NCBITaxon_3118682 Leptospiria http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/DOID_633 myositis http://purl.obolibrary.org/obo/HP_0025780 Abnormal volitional state http://purl.obolibrary.org/obo/HP_0025766 Abnormal affect http://purl.obolibrary.org/obo/DOID_0112372 Coffin-Siris syndrome 11 http://purl.obolibrary.org/obo/DOID_1925 Coffin-Siris syndrome A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. http://purl.obolibrary.org/obo/DOID_13042 persistent fetal circulation syndrome http://purl.obolibrary.org/obo/DOID_6432 pulmonary hypertension http://purl.obolibrary.org/obo/HP_0034434 Abnormal communication http://purl.obolibrary.org/obo/HP_0025792 Abnormal cognitive process http://purl.obolibrary.org/obo/DOID_11949 Creutzfeldt-Jakob disease http://purl.obolibrary.org/obo/DOID_649 prion disease http://purl.obolibrary.org/obo/DOID_0112373 autosomal dominant auditory neuropathy 3 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. http://purl.obolibrary.org/obo/NCBITaxon_2842321 Kolmioviridae http://purl.obolibrary.org/obo/NCBITaxon_3471199 Ribozyviria incertae sedis http://purl.obolibrary.org/obo/DOID_0112376 muscular dystrophy-dystroglycanopathy type B15 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_11685 inflamed seborrheic keratosis http://purl.obolibrary.org/obo/DOID_6498 seborrheic keratosis http://purl.obolibrary.org/obo/CL_0011026 progenitor cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/DOID_0112377 muscular dystrophy-dystroglycanopathy type B14 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31. http://purl.obolibrary.org/obo/DOID_12105 inflammatory spondylopathy http://purl.obolibrary.org/obo/DOID_6590 spondylitis http://purl.obolibrary.org/obo/SO_0000340 chromosome http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/DOID_13127 gonococcal spondylitis http://purl.obolibrary.org/obo/DOID_6590 spondylitis http://purl.obolibrary.org/obo/DOID_0112378 muscular dystrophy-dystroglycanopathy type B3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1. http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/DOID_10991 basal ganglia cerebrovascular disease http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_0112379 muscular dystrophy-dystroglycanopathy type B4 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/DOID_0112380 muscular dystrophy-dystroglycanopathy type B2 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. http://purl.obolibrary.org/obo/DOID_11390 cerebral arteritis http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/SO_1000035 duplication http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/DOID_0112381 muscular dystrophy-dystroglycanopathy type C12 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. http://purl.obolibrary.org/obo/DOID_13089 intracranial arterial disease http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/NCBITaxon_3050295 Cytomegalovirus humanbeta5 http://purl.obolibrary.org/obo/NCBITaxon_10358 Cytomegalovirus http://purl.obolibrary.org/obo/DOID_0112382 muscular dystrophy-dystroglycanopathy type C8 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. http://purl.obolibrary.org/obo/DOID_13100 intracranial vasospasm http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/NCBITaxon_1230527 Curvularia hawaiiensis http://purl.obolibrary.org/obo/NCBITaxon_5502 Curvularia http://purl.obolibrary.org/obo/DOID_5976 occlusion precerebral artery http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_0112383 KINSSHIP syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. http://purl.obolibrary.org/obo/NCBITaxon_6249 Ascaridomorpha http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/DOID_14350 suppurative thyroiditis http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/SYMP_0020053 mammary gland inflammation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom A skin and integumentary tissue symptom that is characterized by an inflammation of the mammary gland or udder and usually caused by infection. http://purl.obolibrary.org/obo/NCBITaxon_2072717 Gnathostomatomorpha http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/DOID_14351 Riedel's fibrosing thyroiditis http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/SYMP_0020054 severe mammary gland inflammation http://purl.obolibrary.org/obo/SYMP_0020053 mammary gland inflammation A mammary gland inflammation that is characterized by an increased intensity or severity of the condition. http://purl.obolibrary.org/obo/NCBITaxon_91942 Hortaea http://purl.obolibrary.org/obo/NCBITaxon_668547 Teratosphaeriaceae http://purl.obolibrary.org/obo/DOID_14353 acute thyroiditis http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/SYMP_0020056 cerebrovascular accident http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom A nervous system symptom that is characterized by a loss of blood flow to part of the brain, which damages brain tissue. Cerebrovascular accidents are caused by blood clots and broken blood vessels in the brain. http://purl.obolibrary.org/obo/NCBITaxon_5052 Aspergillus http://purl.obolibrary.org/obo/NCBITaxon_1131492 Aspergillaceae http://purl.obolibrary.org/obo/DOID_12577 urethral obstruction http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/SYMP_0020057 bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom A respiratory system and chest symptom that is characterized by acute inflammation of the bronchi, accompanied by inflamed patches in the nearby lobules of the lungs. http://purl.obolibrary.org/obo/NCBITaxon_3049954 Orthopneumovirus hominis http://purl.obolibrary.org/obo/NCBITaxon_1868215 Orthopneumovirus http://purl.obolibrary.org/obo/DOID_1343 urethritis http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/DOID_0081335 Becker disease http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. http://purl.obolibrary.org/obo/NCBITaxon_3977 Euphorbiaceae http://purl.obolibrary.org/obo/NCBITaxon_3646 Malpighiales http://purl.obolibrary.org/obo/DOID_13461 urethral intrinsic sphincter deficiency http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/DOID_0081424 familial focal epilepsy with variable foci 4 http://purl.obolibrary.org/obo/DOID_0081420 familial focal epilepsy with variable foci A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. http://purl.obolibrary.org/obo/NCBITaxon_235631 Crotonoideae http://purl.obolibrary.org/obo/NCBITaxon_3977 Euphorbiaceae http://purl.obolibrary.org/obo/DOID_13498 urethral syndrome http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/DOID_0070532 aniridia 1 http://purl.obolibrary.org/obo/DOID_12271 aniridia An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. http://purl.obolibrary.org/obo/NCBITaxon_40355 Fonsecaea pedrosoi http://purl.obolibrary.org/obo/NCBITaxon_40354 Fonsecaea http://purl.obolibrary.org/obo/DOID_620 blood protein disease http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease http://purl.obolibrary.org/obo/DOID_0070519 early-onset vitamin B6-dependent epilepsy 4 http://purl.obolibrary.org/obo/DOID_0080768 pyridoxine-dependent epilepsy A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. http://purl.obolibrary.org/obo/NCBITaxon_86057 Fonsecaea compacta http://purl.obolibrary.org/obo/NCBITaxon_40354 Fonsecaea http://purl.obolibrary.org/obo/DOID_11223 small intestine diverticulitis http://purl.obolibrary.org/obo/DOID_7475 diverticulitis http://purl.obolibrary.org/obo/DOID_0081404 BCOR-CCNB3 sarcoma http://purl.obolibrary.org/obo/DOID_0081402 sarcoma with BCOR genetic alterations A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. http://purl.obolibrary.org/obo/NCBITaxon_28843 Diphyllobothriidae http://purl.obolibrary.org/obo/NCBITaxon_1224679 Diphyllobothriidea http://purl.obolibrary.org/obo/DOID_2529 splenic disease http://purl.obolibrary.org/obo/DOID_75 lymphatic system disease http://purl.obolibrary.org/obo/DOID_0060930 developmental dysplasia of the hip http://purl.obolibrary.org/obo/DOID_0080006 bone development disease A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. http://purl.obolibrary.org/obo/NCBITaxon_121739 Lacazia http://purl.obolibrary.org/obo/NCBITaxon_1593277 Onygenales incertae sedis http://purl.obolibrary.org/obo/DOID_9942 lymph node disease http://purl.obolibrary.org/obo/DOID_75 lymphatic system disease http://purl.obolibrary.org/obo/DOID_0060949 3-hydroxyisobutryl-CoA hydrolase deficiency http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. http://purl.obolibrary.org/obo/NCBITaxon_3052225 Henipavirus nipahense http://purl.obolibrary.org/obo/NCBITaxon_260964 Henipavirus http://purl.obolibrary.org/obo/DOID_10808 gastric ulcer http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/DOID_0060952 polycystic kidney disease 7 http://purl.obolibrary.org/obo/DOID_898 autosomal dominant polycystic kidney disease A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. http://purl.obolibrary.org/obo/NCBITaxon_2267273 Dibothriocephalus http://purl.obolibrary.org/obo/NCBITaxon_28843 Diphyllobothriidae http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/DOID_10927 gastrojejunal ulcer http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/DOID_0060954 Holoprosencephaly 13, X-linked http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinomycetota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/NCBITaxon_544448 Mycoplasmatota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/DOID_1724 duodenal ulcer http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/DOID_0060964 Loeys-Dietz syndrome 6 http://purl.obolibrary.org/obo/DOID_0050466 Loeys-Dietz syndrome A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. http://purl.obolibrary.org/obo/NCBITaxon_3980 Hevea http://purl.obolibrary.org/obo/NCBITaxon_235882 Micrandreae http://purl.obolibrary.org/obo/NCBITaxon_7160 Aedes albopictus http://purl.obolibrary.org/obo/NCBITaxon_53541 Stegomyia http://purl.obolibrary.org/obo/DOID_1159 functional gastric disease http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_0060965 episodic ataxia type 9 http://purl.obolibrary.org/obo/DOID_963 episodic ataxia An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. http://purl.obolibrary.org/obo/NCBITaxon_5741 Giardia duodenalis http://purl.obolibrary.org/obo/NCBITaxon_5740 Giardia http://purl.obolibrary.org/obo/DOID_12070 Dieulafoy lesion http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_0060969 galactosemia 4 http://purl.obolibrary.org/obo/DOID_9870 galactosemia A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/NCBITaxon_147100 Rhabditophora http://purl.obolibrary.org/obo/DOID_12072 pylorospasm http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities http://purl.obolibrary.org/obo/DOID_9252 amino acid metabolic disorder An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. http://purl.obolibrary.org/obo/NCBITaxon_147572 Piedraia http://purl.obolibrary.org/obo/NCBITaxon_147571 Piedraiaceae http://purl.obolibrary.org/obo/DOID_12234 cascade stomach http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/DOID_0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy http://purl.obolibrary.org/obo/DOID_0060879 primary hypomagnesemia A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15. http://purl.obolibrary.org/obo/NCBITaxon_147573 Piedraia hortae http://purl.obolibrary.org/obo/NCBITaxon_147572 Piedraia http://purl.obolibrary.org/obo/DOID_12642 hiatus hernia http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/NCBITaxon_85819 Phthiraptera http://purl.obolibrary.org/obo/NCBITaxon_160148 Troctomorpha http://purl.obolibrary.org/obo/DOID_0070576 spermatogenic failure 77 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23. http://purl.obolibrary.org/obo/DOID_3122 gastric outlet obstruction http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/NCBITaxon_6312 Angiostrongylus http://purl.obolibrary.org/obo/NCBITaxon_55271 Metastrongylidae http://purl.obolibrary.org/obo/DOID_0070613 familial renal glucosuria http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2. http://purl.obolibrary.org/obo/DOID_371 extracranial neuroblastoma http://purl.obolibrary.org/obo/DOID_769 neuroblastoma http://purl.obolibrary.org/obo/NCBITaxon_5039 Blastomyces dermatitidis http://purl.obolibrary.org/obo/NCBITaxon_229219 Blastomyces http://purl.obolibrary.org/obo/DOID_0070606 autosomal dominant nonsyndromic deafness 87 http://purl.obolibrary.org/obo/DOID_0050564 autosomal dominant nonsyndromic deafness An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. http://purl.obolibrary.org/obo/DOID_4163 ganglioneuroblastoma http://purl.obolibrary.org/obo/DOID_769 neuroblastoma http://purl.obolibrary.org/obo/NCBITaxon_2060905 Blastomyces parvus http://purl.obolibrary.org/obo/NCBITaxon_229219 Blastomyces http://purl.obolibrary.org/obo/DOID_0051004 congenital nonspherocytic hemolytic anemia 3 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease http://purl.obolibrary.org/obo/NCBITaxon_2682482 Mastigamoebida http://purl.obolibrary.org/obo/NCBITaxon_555406 Archamoebae http://purl.obolibrary.org/obo/DOID_0051054 coarctation of the aorta http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure. http://purl.obolibrary.org/obo/DOID_11527 laryngostenosis http://purl.obolibrary.org/obo/DOID_786 laryngeal disease http://purl.obolibrary.org/obo/NCBITaxon_1714621 Borna disease virus 1 http://purl.obolibrary.org/obo/NCBITaxon_1714619 Orthobornavirus bornaense http://purl.obolibrary.org/obo/NCBITaxon_181550 Trichomonadidae http://purl.obolibrary.org/obo/NCBITaxon_37104 Trichomonadida http://purl.obolibrary.org/obo/DOID_0051056 immunodeficiency 113 http://purl.obolibrary.org/obo/DOID_612 primary immunodeficiency disease A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. http://purl.obolibrary.org/obo/DOID_11766 blind hypotensive eye http://purl.obolibrary.org/obo/DOID_790 ocular hypotension http://purl.obolibrary.org/obo/NCBITaxon_79923 Clonorchis sinensis http://purl.obolibrary.org/obo/NCBITaxon_79922 Clonorchis http://purl.obolibrary.org/obo/DOID_0051057 avoidant/restrictive food intake disorder http://purl.obolibrary.org/obo/DOID_8670 eating disorder An eating disorder that is characterized by a persistent pattern of avoidant or selective eating that fails to meet nutritional needs and results in significant nutritional deficiency or weight loss. http://purl.obolibrary.org/obo/DOID_12349 primary eye hypotony http://purl.obolibrary.org/obo/DOID_790 ocular hypotension http://purl.obolibrary.org/obo/NCBITaxon_235882 Micrandreae http://purl.obolibrary.org/obo/NCBITaxon_235631 Crotonoideae http://purl.obolibrary.org/obo/DOID_0051058 acute calcific periarthritis http://purl.obolibrary.org/obo/DOID_2964 periarthritis A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation. http://purl.obolibrary.org/obo/DOID_12573 neonatal thyrotoxicosis http://purl.obolibrary.org/obo/DOID_7997 thyrotoxicosis http://purl.obolibrary.org/obo/NCBITaxon_91943 Hortaea werneckii http://purl.obolibrary.org/obo/NCBITaxon_91942 Hortaea http://purl.obolibrary.org/obo/NCBITaxon_5740 Giardia http://purl.obolibrary.org/obo/NCBITaxon_68459 Giardiinae http://purl.obolibrary.org/obo/DOID_0051059 autosomal recessive Segawa syndrome http://purl.obolibrary.org/obo/DOID_543 dystonia A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_10719 toxic diffuse goiter http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism http://purl.obolibrary.org/obo/NCBITaxon_6333 Trichinella http://purl.obolibrary.org/obo/NCBITaxon_6332 Trichinellidae http://purl.obolibrary.org/obo/DOID_0051060 frontotemporal dementia 1 http://purl.obolibrary.org/obo/DOID_9255 frontotemporal dementia A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_11277 Plummer's disease http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism http://purl.obolibrary.org/obo/FOODON_00002319 trout food product http://purl.obolibrary.org/obo/FOODON_00001623 atlantic salmon and trout food product http://purl.obolibrary.org/obo/FOODON_00001705 leaf celery food product http://purl.obolibrary.org/obo/FOODON_00001704 celery food product http://purl.obolibrary.org/obo/DOID_0051061 stroke http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen. http://purl.obolibrary.org/obo/DOID_11269 chronic apical periodontitis http://purl.obolibrary.org/obo/DOID_823 periapical periodontitis http://purl.obolibrary.org/obo/FOODON_00002239 shrimp food product http://purl.obolibrary.org/obo/FOODON_00001792 crustacean food product http://purl.obolibrary.org/obo/DOID_0051062 ischemic stroke http://purl.obolibrary.org/obo/DOID_0051061 stroke A stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain. http://purl.obolibrary.org/obo/DOID_11693 acute apical periodontitis http://purl.obolibrary.org/obo/DOID_823 periapical periodontitis http://purl.obolibrary.org/obo/FOODON_00002244 snail food product http://purl.obolibrary.org/obo/FOODON_00002044 mollusc food product http://purl.obolibrary.org/obo/DOID_0051063 hemorrhagic stroke http://purl.obolibrary.org/obo/DOID_0051061 stroke A stroke that is characterized by sudden bleeding in the brain. http://purl.obolibrary.org/obo/DOID_823 periapical periodontitis http://purl.obolibrary.org/obo/DOID_824 periodontitis http://purl.obolibrary.org/obo/FOODON_00002185 rainbow trout food product http://purl.obolibrary.org/obo/FOODON_00002075 pacific salmon food product http://purl.obolibrary.org/obo/DOID_0051064 left ventricular failure http://purl.obolibrary.org/obo/DOID_6000 congestive heart failure A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs. http://purl.obolibrary.org/obo/DOID_11242 plethora of newborn http://purl.obolibrary.org/obo/DOID_8432 polycythemia http://purl.obolibrary.org/obo/FOODON_00001164 tomato food product http://purl.obolibrary.org/obo/FOODON_00001163 solanaceous fruit food product http://purl.obolibrary.org/obo/FOODON_00001704 celery food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_0051065 chronic pancreatitis http://purl.obolibrary.org/obo/DOID_4989 pancreatitis A pancreatitis that is characterized by long-term inflamation of the pancreas. http://purl.obolibrary.org/obo/DOID_14495 dumping syndrome http://purl.obolibrary.org/obo/DOID_8439 postgastrectomy syndrome http://purl.obolibrary.org/obo/FOODON_00001623 atlantic salmon and trout food product http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/FOODON_00002075 pacific salmon food product http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/DOID_0051066 arterionephrosclerosis http://purl.obolibrary.org/obo/DOID_784 chronic kidney disease A chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss. http://purl.obolibrary.org/obo/DOID_12108 bullous retinoschisis http://purl.obolibrary.org/obo/DOID_8465 retinoschisis http://purl.obolibrary.org/obo/FOODON_00001615 apricot food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_0061135 infantile hypercalcemia 2 http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35. http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration http://purl.obolibrary.org/obo/FOODON_00001717 cherry food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_0061136 infantile hypercalcemia 1 http://purl.obolibrary.org/obo/DOID_655 inherited metabolic disorder A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_8465 retinoschisis http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration http://purl.obolibrary.org/obo/FOODON_00002095 peach food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_0061137 spinocerebellar ataxia 27B http://purl.obolibrary.org/obo/DOID_1441 autosomal dominant cerebellar ataxia An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33. http://purl.obolibrary.org/obo/DOID_13094 branch retinal artery occlusion http://purl.obolibrary.org/obo/DOID_8483 retinal artery occlusion http://purl.obolibrary.org/obo/FOODON_00002161 plum fruit food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_0061139 coronary atherosclerosis http://purl.obolibrary.org/obo/DOID_1936 atherosclerosis An atherosclerosis of the coronary vasculature. http://purl.obolibrary.org/obo/DOID_14522 partial arterial retinal occlusion http://purl.obolibrary.org/obo/DOID_8483 retinal artery occlusion http://purl.obolibrary.org/obo/NCBITaxon_2704949 Trypanosomatida http://purl.obolibrary.org/obo/NCBITaxon_2704647 Metakinetoplastina http://purl.obolibrary.org/obo/DOID_0061141 complex cortical dysplasia with other brain malformations 12 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/DOID_11874 abnormal threshold of rods http://purl.obolibrary.org/obo/DOID_8499 night blindness http://purl.obolibrary.org/obo/NCBITaxon_5654 Trypanosomatidae http://purl.obolibrary.org/obo/NCBITaxon_2704949 Trypanosomatida http://purl.obolibrary.org/obo/DOID_0061142 complex cortical dysplasia with other brain malformations 11 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_13227 retinal dystrophies primarily involving Bruch's membrane http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/NCBITaxon_11020 Barmah Forest virus http://purl.obolibrary.org/obo/NCBITaxon_3426294 Alphavirus barmah http://purl.obolibrary.org/obo/DOID_0061143 complex cortical dysplasia with other brain malformations 10 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13. http://purl.obolibrary.org/obo/DOID_14251 vitreoretinal dystrophy http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/NCBITaxon_11021 Eastern equine encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3426299 Alphavirus eastern http://purl.obolibrary.org/obo/DOID_0061144 complex cortical dysplasia with other brain malformations 13 http://purl.obolibrary.org/obo/DOID_0090131 complex cortical dysplasia with other brain malformations A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. http://purl.obolibrary.org/obo/DOID_14252 dystrophies primarily involving the retinal pigment epithelium http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/NCBITaxon_11029 Ross River virus http://purl.obolibrary.org/obo/NCBITaxon_3426314 Alphavirus rossriver http://purl.obolibrary.org/obo/DOID_0061145 monilethrix 1 http://purl.obolibrary.org/obo/DOID_0050472 monilethrix A hair disease that is characterized by beading of the hair shaft caused by periodic constrictions and that has_material_basis_in heterozygous mutation in the hair cortex keratin gene KRT86 on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_14253 retinal dystrophy in systemic or cerebroretinal lipidoses http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/NCBITaxon_11039 Western equine encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3426323 Alphavirus western http://purl.obolibrary.org/obo/DOID_0061147 neurodevelopmental disorder with or without autism or seizures http://purl.obolibrary.org/obo/DOID_225 syndrome An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36. http://purl.obolibrary.org/obo/DOID_11907 ecthyma http://purl.obolibrary.org/obo/DOID_8504 impetigo http://purl.obolibrary.org/obo/NCBITaxon_11617 Arenaviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/DOID_0061148 hereditary congenital ptosis 2 http://purl.obolibrary.org/obo/DOID_0080012 X-linked recessive disease A hereditary congenital ptosis that has_material_basis_in linkage to the X chromosome. http://purl.obolibrary.org/obo/DOID_12326 chronic pulmonary heart disease http://purl.obolibrary.org/obo/DOID_8515 Cor pulmonale http://purl.obolibrary.org/obo/NCBITaxon_1980415 Nairoviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/DOID_0061149 hereditary congenital ptosis 1 http://purl.obolibrary.org/obo/DOID_0060261 congenital ptosis A hereditary congenital ptosis that has_material_basis_in autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_1203 drug-induced mental disorder http://purl.obolibrary.org/obo/DOID_8646 substance-induced psychosis http://purl.obolibrary.org/obo/NCBITaxon_1980418 Phenuiviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/DOID_0061150 familial isolated hypoparathyroidism 1 http://purl.obolibrary.org/obo/DOID_0111387 familial isolated hypoparathyroidism A familial isolated hypoparathyroidism that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_1195 ischemic neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy http://purl.obolibrary.org/obo/NCBITaxon_12092 Hepatovirus A http://purl.obolibrary.org/obo/NCBITaxon_3407641 Hepatovirus ahepa http://purl.obolibrary.org/obo/DOID_0061151 familial isolated hypoparathyroidism 2 http://purl.obolibrary.org/obo/DOID_0111387 familial isolated hypoparathyroidism A familial isolated hypoparathyroidism that has_material_basis_in homozygous mutation in the glial cells missing transcription factor-2 GCM2 gene on chromosome 6p24. Some patients have been reported with heterozygous mutations in the GCM2 gene. http://purl.obolibrary.org/obo/DOID_9743 diabetic neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy http://purl.obolibrary.org/obo/NCBITaxon_1335626 Middle East respiratory syndrome-related coronavirus http://purl.obolibrary.org/obo/NCBITaxon_3433633 Betacoronavirus cameli http://purl.obolibrary.org/obo/DOID_0061152 monilethrix 2 http://purl.obolibrary.org/obo/DOID_0050472 monilethrix A hair disease that is characterized by a 'beaded' appearance of affected hairs on microscopy, caused by elliptical nodes of normal thickness alternating with narrow, dystrophic constrictions and that has_material_basis_in heterozygous mutation in the KRT81 gene on chromosome 12q13. http://purl.obolibrary.org/obo/DOID_12731 pars planitis http://purl.obolibrary.org/obo/DOID_8886 chorioretinitis http://purl.obolibrary.org/obo/NCBITaxon_138948 Enterovirus A http://purl.obolibrary.org/obo/NCBITaxon_3428500 Enterovirus alphacoxsackie http://purl.obolibrary.org/obo/DOID_0061155 kyphomelic dysplasia http://purl.obolibrary.org/obo/DOID_0080005 bone remodeling disease A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23. http://purl.obolibrary.org/obo/DOID_1979 focal chorioretinitis http://purl.obolibrary.org/obo/DOID_8886 chorioretinitis http://purl.obolibrary.org/obo/NCBITaxon_138949 Enterovirus B http://purl.obolibrary.org/obo/NCBITaxon_3428502 Enterovirus betacoxsackie http://purl.obolibrary.org/obo/DOID_0061156 CASGID syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriplegia that has_material_basis_in heterozygous mutation in the GLS gene, which encodes glutaminase, on chromosome 2q32. http://purl.obolibrary.org/obo/DOID_13207 proliferative diabetic retinopathy http://purl.obolibrary.org/obo/DOID_8947 diabetic retinopathy http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/NCBITaxon_3428505 Enterovirus coxsackiepol http://purl.obolibrary.org/obo/DOID_0061157 retinopathy sensory neuropathy syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inhomozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. http://purl.obolibrary.org/obo/DOID_13208 background diabetic retinopathy http://purl.obolibrary.org/obo/DOID_8947 diabetic retinopathy http://purl.obolibrary.org/obo/NCBITaxon_138951 Enterovirus D http://purl.obolibrary.org/obo/NCBITaxon_3428506 Enterovirus deconjuncti http://purl.obolibrary.org/obo/DOID_0061158 Kariminejad neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_0060308 autosomal recessive intellectual developmental disorder An autosomal recessive intellectual developmental disorder characterized by global developmental delay with delayed walking by a few years, speech delay, and impaired intellectual development that has_material_basis_in homozygous mutation in the RBSN gene on chromosome 3p25. http://purl.obolibrary.org/obo/DOID_14548 steroid-induced glaucoma - borderline http://purl.obolibrary.org/obo/DOID_9283 borderline glaucoma http://purl.obolibrary.org/obo/NCBITaxon_194440 Primate T-lymphotropic virus 1 http://purl.obolibrary.org/obo/NCBITaxon_3428212 Deltaretrovirus priTlym1 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease http://purl.obolibrary.org/obo/DOID_417 autoimmune disease An autoimmune disease characterized by systemic autoimmune manifestations with infantile onset. http://purl.obolibrary.org/obo/DOID_11175 enophthalmos http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/NCBITaxon_2169701 Onyong-nyong virus http://purl.obolibrary.org/obo/NCBITaxon_3426312 Alphavirus onyong http://purl.obolibrary.org/obo/DOID_0061160 infantile onset multisystem autoimmune disease 1 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs that has_material_basis_in heterozygous gain of function mutation in the STAT3 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_11230 acute orbital inflammation http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/NCBITaxon_694009 Severe acute respiratory syndrome-related coronavirus http://purl.obolibrary.org/obo/NCBITaxon_3418604 Betacoronavirus pandemicum http://purl.obolibrary.org/obo/DOID_0061161 infantile onset multisystem autoimmune disease 2 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease that has_material_basis_in compound heterozygous mutation in the ZAP70 gene on chromosome 2q12. http://purl.obolibrary.org/obo/DOID_12359 endocrine exophthalmos http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/NCBITaxon_2697049 Severe acute respiratory syndrome coronavirus 2 http://purl.obolibrary.org/obo/NCBITaxon_3418604 Betacoronavirus pandemicum http://purl.obolibrary.org/obo/DOID_0061162 infantile onset multisystem autoimmune disease 3 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized by the onset of various systemic autoimmune manifestations in the first months or years of life that has_material_basis_in homozygous mutation in the CBLB gene on chromosome 3q13. http://purl.obolibrary.org/obo/DOID_12360 lateral displacement of eye http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/NCBITaxon_2732559 Rowavirales http://purl.obolibrary.org/obo/NCBITaxon_3412727 Pharingeaviricetes http://purl.obolibrary.org/obo/DOID_0061163 infantile onset multisystem autoimmune disease 4 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37. http://purl.obolibrary.org/obo/DOID_12363 intermittent proptosis http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/NCBITaxon_2748762 Colorado tick fever coltivirus http://purl.obolibrary.org/obo/NCBITaxon_3428066 Coltivirus dermacentoris http://purl.obolibrary.org/obo/DOID_0061164 infantile onset multisystem autoimmune disease 5 http://purl.obolibrary.org/obo/DOID_0061159 infantile onset multisystem autoimmune disease An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that has_material_basis_in homozygous mutation in the PDL1 gene on chromosome 9p24. http://purl.obolibrary.org/obo/DOID_12364 pulsating exophthalmos http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/NCBITaxon_3412727 Pharingeaviricetes http://purl.obolibrary.org/obo/NCBITaxon_3412694 Polisuviricotina http://purl.obolibrary.org/obo/DOID_0061165 proximal renal tubular acidosis http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular transport disease characterized by an inability of the distal tubule to generate a sufficiently large hydrogen ion gradient between blood and tubular fluid. http://purl.obolibrary.org/obo/DOID_1397 chronic orbital inflammation http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/NCBITaxon_37124 Chikungunya virus http://purl.obolibrary.org/obo/NCBITaxon_3426298 Alphavirus chikungunya http://purl.obolibrary.org/obo/DOID_0061166 autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron that has_material_basis_in homozygous mutation in the ATP6N1B gene on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_14233 orbital cyst http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/DOID_0061167 autosomal recessive proximal renal tubular acidosis http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular transport disease characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. http://purl.obolibrary.org/obo/DOID_14459 hemangioma of orbit http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/DOID_0061168 mitochondrial axonal Charcot-Marie-Tooth disease http://purl.obolibrary.org/obo/DOID_10595 Charcot-Marie-Tooth disease A Charcot-Marie-Tooth disease characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur that has_material_basis_in mutation in the MTTV gene, which is encoded by the mitochondrial genome. http://purl.obolibrary.org/obo/DOID_11581 phlyctenulosis http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/SO_0002245 five_prime_duplicated_transcript http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/SO_0002246 three_prime_duplicated_transcript http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/DOID_0061171 immunodeficiency 130 with HPV-related verrucosis http://purl.obolibrary.org/obo/DOID_0111962 combined immunodeficiency A primary immunodeficiency disease that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_12125 neurotrophic keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/NCBITaxon_10359 Human betaherpesvirus 5 http://purl.obolibrary.org/obo/NCBITaxon_3050295 Cytomegalovirus humanbeta5 http://purl.obolibrary.org/obo/DOID_0061172 transient neonatal diabetes mellitus 3 http://purl.obolibrary.org/obo/DOID_0060334 transient neonatal diabetes mellitus A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_12197 punctate epithelial keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/NCBITaxon_10372 Human betaherpesvirus 7 http://purl.obolibrary.org/obo/NCBITaxon_3050298 Roseolovirus humanbeta7 http://purl.obolibrary.org/obo/DOID_0061173 transient neonatal diabetes mellitus 1 http://purl.obolibrary.org/obo/DOID_0060334 transient neonatal diabetes mellitus A transient neonatal diabetes mellitus that has_material_basis_in overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 and HYMAI. http://purl.obolibrary.org/obo/DOID_13014 shipyard eye http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/NCBITaxon_10376 human gammaherpesvirus 4 http://purl.obolibrary.org/obo/NCBITaxon_3050299 Lymphocryptovirus humangamma4 http://purl.obolibrary.org/obo/DOID_0061174 transient neonatal diabetes mellitus 2 http://purl.obolibrary.org/obo/DOID_0060334 transient neonatal diabetes mellitus A transient neonatal diabetes mellitus that has_material_basis_in heterozygous mutation in the ABCC8 gene on chromosome 11p15. http://purl.obolibrary.org/obo/DOID_10443 hypopyon http://purl.obolibrary.org/obo/DOID_9383 iridocyclitis http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/DOID_0061175 Gollop-Wolfgang complex http://purl.obolibrary.org/obo/DOID_0080015 physical disorder A physical disorder characterized by bifurcation of the femur with ipsilateral tibial aplasia and split hand and monodactyly of the feet, resulting in severe and complex limb deformities. http://purl.obolibrary.org/obo/DOID_10802 acute gonococcal epididymo-orchitis http://purl.obolibrary.org/obo/DOID_9401 epididymo-orchitis http://purl.obolibrary.org/obo/SYMP_0000585 sleep related movement disorder http://purl.obolibrary.org/obo/SYMP_0000566 sleep disturbance http://purl.obolibrary.org/obo/DOID_0061176 developmental and epileptic encephalopathy 118 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A developmental and epileptic encephalopathy that is characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_10648 acute inferoposterior infarction http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/SO_0001260 sequence_collection http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_0061177 X-linked spermatogenic failure 9 http://purl.obolibrary.org/obo/DOID_0111910 spermatogenic failure A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest that has_material_basis_in hemizygous mutation in the RBBP7 gene on chromosome Xp22. http://purl.obolibrary.org/obo/DOID_10649 acute inferolateral myocardial infarction http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_0061178 autosomal recessive congenital nystagmus 8 http://purl.obolibrary.org/obo/DOID_0111797 autosomal recessive congenital nystagmus A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. http://purl.obolibrary.org/obo/DOID_10651 acute anterolateral myocardial infarction http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_0061179 Adams-Oliver syndrome 3 http://purl.obolibrary.org/obo/DOID_0060227 Adams-Oliver syndrome An Adams-Oliver syndrome that has_material_basis_in heterozygous mutation in the RBPJ gene on chromosome 4p15. http://purl.obolibrary.org/obo/DOID_13823 parasitic eyelid infestation http://purl.obolibrary.org/obo/DOID_9423 blepharitis http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_0061180 familial hypercholanemia 3 http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder A steroid inherited metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the BAAT gene on chromosome 9q31. http://purl.obolibrary.org/obo/DOID_13825 squamous blepharitis http://purl.obolibrary.org/obo/DOID_9423 blepharitis http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/DOID_0061181 familial hypercholanemia 1 http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21. http://purl.obolibrary.org/obo/DOID_11459 pseudotumor cerebri http://purl.obolibrary.org/obo/DOID_9428 intracranial hypertension http://purl.obolibrary.org/obo/GENO_0000149 X-linked recessive inheritance http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/DOID_0061182 familial hypercholanemia 2 http://purl.obolibrary.org/obo/DOID_1701 steroid inherited metabolic disorder A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_14268 sclerosing cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/DOID_0061183 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A muscular disease characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported that has_material_basis_in homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12. http://purl.obolibrary.org/obo/DOID_14269 suppurative cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/DOID_0061184 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 http://purl.obolibrary.org/obo/DOID_0080000 muscular disease A muscular disease characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life that has_material_basis_in heterozygous mutation in the DTNA gene on chromosome 18q12. http://purl.obolibrary.org/obo/DOID_14270 ascending cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/HP_0032252 Granuloma http://purl.obolibrary.org/obo/HP_0032251 Abnormal immune system morphology http://purl.obolibrary.org/obo/DOID_0061185 autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. http://purl.obolibrary.org/obo/DOID_14271 acute cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/HP_0033095 Increased sulfur amino acid level in urine http://purl.obolibrary.org/obo/HP_0033100 Increased proteinogenic amino acid level in urine http://purl.obolibrary.org/obo/DOID_0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death that has_material_basis_in homozygous or compound heterozygous mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase. The effect of the mutation on enzyme activity results solely from a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase. http://purl.obolibrary.org/obo/DOID_14272 pericholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/DOID_0061187 multiple familial trichoepithelioma 1 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A facial dermatosis that has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. http://purl.obolibrary.org/obo/DOID_14503 neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/DOID_0061188 autosomal recessive sensory neuropathy with spastic paraplegia http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A hereditary sensory and autonomic neuropathy that has_material_basis_in homozygous mutation in the CCT5 gene on chromosome 5p15.2. http://purl.obolibrary.org/obo/DOID_14559 anaerobic meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis http://purl.obolibrary.org/obo/FOODON_00002487 jujube fruit (raw) http://purl.obolibrary.org/obo/FOODON_00003652 jujube fruit http://purl.obolibrary.org/obo/DOID_0061189 neuronal ceroid lipofuscinosis 15 http://purl.obolibrary.org/obo/DOID_14503 neuronal ceroid lipofuscinosis A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_12156 arachnoiditis http://purl.obolibrary.org/obo/DOID_9471 meningitis http://purl.obolibrary.org/obo/NCBITaxon_11084 Tick-borne encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3052465 Orthoflavivirus encephalitidis http://purl.obolibrary.org/obo/DOID_0061190 ReNU syndrome http://purl.obolibrary.org/obo/DOID_0060307 autosomal dominant intellectual developmental disorder An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24. http://purl.obolibrary.org/obo/DOID_12524 plantar nerve lesion http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/NCBITaxon_11080 St. Louis encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3052468 Orthoflavivirus louisense http://purl.obolibrary.org/obo/DOID_0061191 neonatal nephrocutaneous inflammatory syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11. http://purl.obolibrary.org/obo/DOID_12527 common peroneal nerve lesion http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/DOID_12528 lesion of sciatic nerve http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/NCBITaxon_11588 Rift Valley fever virus http://purl.obolibrary.org/obo/NCBITaxon_3052676 Phlebovirus riftense http://purl.obolibrary.org/obo/DOID_0061192 neonatal inflammatory skin and bowel disease 1 http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease that has_material_basis_in homozygous mutation in the ADAM17 gene on chromosome 2p25. http://purl.obolibrary.org/obo/DOID_12529 tibial nerve palsy http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/NCBITaxon_12637 Dengue virus http://purl.obolibrary.org/obo/NCBITaxon_3052464 Orthoflavivirus denguei http://purl.obolibrary.org/obo/DOID_0061193 nephrotic syndrome type 26 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of proteinuria in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13. http://purl.obolibrary.org/obo/DOID_12809 chronic lacrimal gland enlargement http://purl.obolibrary.org/obo/DOID_950 dacryoadenitis http://purl.obolibrary.org/obo/FOODON_00001165 solanaceous food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_0061194 nephrotic syndrome type 24 http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A familial nephrotic syndrome characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. that has_material_basis_in homozygous or compound heterozygous mutation in the DAAM2 gene on chromosome 6p21. http://purl.obolibrary.org/obo/DOID_12986 leukostasis http://purl.obolibrary.org/obo/DOID_9500 leukocyte disease http://purl.obolibrary.org/obo/FOODON_00001175 plant stem food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_0061195 proximal renal tubular acidosis-ocular anomaly syndrome http://purl.obolibrary.org/obo/DOID_14219 renal tubular acidosis A renal tubular acidosis characterized by a decreased renal HCO3- threshold that has_material_basis_in homozygous mutation in the SLC4A4 gene on chromosome 4q13. http://purl.obolibrary.org/obo/DOID_12257 medulloadrenal hyperfunction http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease http://purl.obolibrary.org/obo/FOODON_00001242 spice or herb http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_0061196 Mietens syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome that is characterized by corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. http://purl.obolibrary.org/obo/DOID_3947 adrenal gland hyperfunction http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease http://purl.obolibrary.org/obo/DOID_0061197 BCARD syndrome http://purl.obolibrary.org/obo/DOID_65 connective tissue disease A connective tissue disease characterized by bone abnormalities, including low bone mineral density, scoliosis, contractures of the fingers and other joints, prominent knees, and rare pathologic fractures; cataract and other ocular abnormalities, including high myopia, optically empty vitreous, and risk for retinal detachment; risk of arterial rupture due to vascular aneurysm or dissection; and sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the PLOD3 gene on chromosome 7q22. http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_13664 post-vaccinal encephalitis http://purl.obolibrary.org/obo/DOID_9588 encephalitis http://purl.obolibrary.org/obo/DOID_0061198 Bethlem myopathy 1A http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Bethlem myopathy that has_material_basis_in heterozygous mutation in the COL6A1 gene on chromosome 21q22. http://purl.obolibrary.org/obo/FOODON_00001262 botanical fruit food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_11875 denture stomatitis http://purl.obolibrary.org/obo/DOID_9637 stomatitis http://purl.obolibrary.org/obo/DOID_0061199 Bethlem myopathy 1B http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A2 gene on chromosome 21q22. http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/DOID_11771 spontaneous ocular nystagmus http://purl.obolibrary.org/obo/DOID_9650 pathologic nystagmus http://purl.obolibrary.org/obo/DOID_13174 dissociated nystagmus http://purl.obolibrary.org/obo/DOID_9650 pathologic nystagmus http://purl.obolibrary.org/obo/DOID_0061200 Bethlem myopathy 1C http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37. http://purl.obolibrary.org/obo/FOODON_00002141 plant fruit as vegetable food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_14192 bicipital tenosynovitis http://purl.obolibrary.org/obo/DOID_970 tenosynovitis http://purl.obolibrary.org/obo/DOID_0061201 Bethlem myopathy 2 http://purl.obolibrary.org/obo/DOID_0050736 autosomal dominant disease A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q. http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_10471 patellar tendinitis http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/DOID_0061202 congenital muscular dystrophy with rapid progression http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A congenital muscular dystrophy characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the BET1 gene on chromosome 7q21. http://purl.obolibrary.org/obo/FOODON_00003652 jujube fruit http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_10810 tibialis tendinitis http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/DOID_0061203 maple syrup urine disease type IA http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13. http://purl.obolibrary.org/obo/FOODON_00001150 cucurbit fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_14181 calcific tendinitis http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/DOID_0061204 dihydrolipoamide dehydrogenase deficiency http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31. http://purl.obolibrary.org/obo/FOODON_00001151 citrus fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_11816 vitreous syneresis http://purl.obolibrary.org/obo/DOID_9720 vitreous disease http://purl.obolibrary.org/obo/DOID_0061205 mild variant of maple syrup urine disease http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that has_material_basis_in homozygous mutation in the PPM1K gene on chromosome 4q22. http://purl.obolibrary.org/obo/FOODON_00001158 pomaceous fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_10697 chronic endophthalmitis http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/DOID_0061206 maple syrup urine disease type IB http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14. http://purl.obolibrary.org/obo/FOODON_00001163 solanaceous fruit food product http://purl.obolibrary.org/obo/FOODON_00001165 solanaceous food product http://purl.obolibrary.org/obo/DOID_11752 acute endophthalmitis http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/DOID_0061207 maple syrup urine disease type II http://purl.obolibrary.org/obo/DOID_0050737 autosomal recessive disease A maple syrup urine disease that has_material_basis_in homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 1p21. http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/DOID_13732 panophthalmitis http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/DOID_0061208 epidermolytic hyperkeratosis 2B http://purl.obolibrary.org/obo/DOID_0081359 epidermolytic hyperkeratosis 2 An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases that has_material_basis_in homozygous mutation in the KRT10 geneon chromosome 17q21. http://purl.obolibrary.org/obo/FOODON_00001251 avian food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/DOID_2825 nose disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/DOID_0061209 branchiootic syndrome 1 http://purl.obolibrary.org/obo/DOID_0060232 branchiootic syndrome A branchiootic syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13. http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/DOID_3225 tracheal disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/FOODON_00001274 egg food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/DOID_0061210 branchiootic syndrome 3 http://purl.obolibrary.org/obo/DOID_0060232 branchiootic syndrome A branchiootic syndrome that has_material_basis_in heterozygous mutation in the SIX1 gene on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0061211 Lafora disease 2 http://purl.obolibrary.org/obo/DOID_3534 Lafora disease A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22. http://purl.obolibrary.org/obo/DOID_786 laryngeal disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/FOODON_00001275 chicken egg food product http://purl.obolibrary.org/obo/FOODON_00001105 avian egg food product http://purl.obolibrary.org/obo/DOID_0061212 hypocholesteremia http://purl.obolibrary.org/obo/DOID_0014667 disease of metabolism A disease of metabolism characterized by resence of abnormally low (hypo-) levels of cholesterol in the blood (-emia). http://purl.obolibrary.org/obo/DOID_9561 nasopharyngeal disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/FOODON_00001109 caprine dairy food product http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/DOID_0061213 telomere biology disorder http://purl.obolibrary.org/obo/DOID_630 genetic disease A genetic disease that is characterized by telomeres that are longer or shorter than usual. http://purl.obolibrary.org/obo/DOID_13409 perforation of bile duct http://purl.obolibrary.org/obo/DOID_9741 biliary tract disease http://purl.obolibrary.org/obo/FOODON_00001118 cattle dairy food product http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/DOID_0061214 biliary obstruction http://purl.obolibrary.org/obo/DOID_4138 bile duct disease A bile duct disease characterized by an impairment of bile flow from the liver to the small intestine due to blockage of the biliary duct system. http://purl.obolibrary.org/obo/DOID_12337 varicocele http://purl.obolibrary.org/obo/DOID_9742 pelvic varices http://purl.obolibrary.org/obo/FOODON_00001771 cow milk based food product http://purl.obolibrary.org/obo/FOODON_00001257 milk or milk based food product http://purl.obolibrary.org/obo/FOODON_00002029 melon food product http://purl.obolibrary.org/obo/FOODON_00001150 cucurbit fruit food product http://purl.obolibrary.org/obo/FOODON_00002071 orange food product http://purl.obolibrary.org/obo/FOODON_00001151 citrus fruit food product http://purl.obolibrary.org/obo/DOID_0061215 hepatic fibrosis http://purl.obolibrary.org/obo/DOID_409 liver disease A liver disease that is characterized by an excessive accumulation of extracellular matrix proteins that results in the development of scar tissue due to chronic inflammation or damage. http://purl.obolibrary.org/obo/DOID_12785 diabetic polyneuropathy http://purl.obolibrary.org/obo/DOID_9743 diabetic neuropathy http://purl.obolibrary.org/obo/DOID_11772 leukocoria http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease http://purl.obolibrary.org/obo/FOODON_00001611 apple food product http://purl.obolibrary.org/obo/FOODON_00001158 pomaceous fruit food product http://purl.obolibrary.org/obo/DOID_0061216 pheochromocytoma/paraganglioma syndrome 1 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHD gene. http://purl.obolibrary.org/obo/DOID_11850 transient refractive change http://purl.obolibrary.org/obo/DOID_9835 refractive error http://purl.obolibrary.org/obo/FOODON_00002156 plant stem or spear food product http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/DOID_0061217 pheochromocytoma/paraganglioma syndrome 2 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHAF2 gene. http://purl.obolibrary.org/obo/DOID_12273 anisometropia http://purl.obolibrary.org/obo/DOID_9835 refractive error http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/FOODON_00001242 spice or herb http://purl.obolibrary.org/obo/DOID_0061218 pheochromocytoma/paraganglioma syndrome 3 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHC gene. http://purl.obolibrary.org/obo/DOID_0061219 pheochromocytoma/paraganglioma syndrome 4 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHB gene, which encodes the iron sulfur subunit of succinate dehydrogenase, on chromosome 1p36. http://purl.obolibrary.org/obo/DOID_13490 active cochleovestibular Meniere's disease http://purl.obolibrary.org/obo/DOID_9849 Meniere's disease http://purl.obolibrary.org/obo/FOODON_00001684 carp food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/DOID_0061220 pheochromocytoma/paraganglioma syndrome 5 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine tumors, usually in adulthood that has material_basis_in heterozygous mutation in the SDHA gene on chromosome 5p15. http://purl.obolibrary.org/obo/DOID_0061221 pheochromocytoma/paraganglioma syndrome 6 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the SLC25A11 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_13491 active vestibular Meniere's disease http://purl.obolibrary.org/obo/DOID_9849 Meniere's disease http://purl.obolibrary.org/obo/FOODON_00001750 cod food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/DOID_0061222 pheochromocytoma/paraganglioma syndrome 7 http://purl.obolibrary.org/obo/DOID_0050773 paraganglioma A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the DLST gene on chromosome 14q24. http://purl.obolibrary.org/obo/DOID_13492 active cochlear Meniere's disease http://purl.obolibrary.org/obo/DOID_9849 Meniere's disease http://purl.obolibrary.org/obo/DOID_0061223 epidermolytic hyperkeratosis 2A http://purl.obolibrary.org/obo/DOID_0081359 epidermolytic hyperkeratosis 2 An epidermolytic hyperkeratosis that is characterized by blistering, keratoderma, and erythroderma that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene on chromosome 17q21. http://purl.obolibrary.org/obo/DOID_13353 diffuse interstitial keratitis http://purl.obolibrary.org/obo/DOID_9857 interstitial keratitis http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/DOID_0061224 Majeed syndrome http://purl.obolibrary.org/obo/DOID_0051000 autoinflammatory disease An autoinflammatory disease characterized by characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia that has_material_basis_in homozygous mutation in the LPIN2 gene on chromosome 18p11. http://purl.obolibrary.org/obo/DOID_11543 corneal abscess http://purl.obolibrary.org/obo/DOID_9858 deep keratitis http://purl.obolibrary.org/obo/FOODON_00001105 avian egg food product http://purl.obolibrary.org/obo/FOODON_00001274 egg food product http://purl.obolibrary.org/obo/DOID_0070636 mirror movements 1 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder characterized by mirror movements and/or agenesis of the corpus callosum that has_material_basis_in heterozygous mutation in the DCC gene on chromosome 18q21, with incomplete penetrance. http://purl.obolibrary.org/obo/DOID_11719 oculopharyngeal muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/DOID_0070637 mirror movements 2 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. http://purl.obolibrary.org/obo/DOID_0070638 mirror movements 4 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the NTN1 gene on chromosome 17p13. http://purl.obolibrary.org/obo/DOID_12996 acute dacryocystitis http://purl.obolibrary.org/obo/DOID_9938 dacryocystitis http://purl.obolibrary.org/obo/FOODON_00001257 milk or milk based food product http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/FOODON_00001264 legume food product http://purl.obolibrary.org/obo/FOODON_00001262 botanical fruit food product http://purl.obolibrary.org/obo/DOID_0070639 mirror movements 3 http://purl.obolibrary.org/obo/DOID_0111153 congenital mirror movement disorder A congenital mirror movement disorder that has_material_basis_in homozygous mutation in the DNAL4 gene on chromosome 22q13. http://purl.obolibrary.org/obo/DOID_12997 Phlegmonous dacryocystitis http://purl.obolibrary.org/obo/DOID_9938 dacryocystitis http://purl.obolibrary.org/obo/FOODON_00001792 crustacean food product http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/DOID_0070640 hereditary spastic paraplegia 18A http://purl.obolibrary.org/obo/DOID_0110771 hereditary spastic paraplegia 18 A hereditary spastic paraplegia 18 that has_material_basis_in heterozygous mutation in the ERLIN2 gene on chromosome 8p11. http://purl.obolibrary.org/obo/DOID_13585 alveolar periostitis http://purl.obolibrary.org/obo/DOID_9957 periostitis http://purl.obolibrary.org/obo/FOODON_00002044 mollusc food product http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/DOID_0070641 hereditary spastic paraplegia 18B http://purl.obolibrary.org/obo/DOID_0110771 hereditary spastic paraplegia 18 A hereditary spastic paraplegia 18 that has_material_basis_in homozygous mutation in the ERLIN2 gene on chromosome 8p11. http://purl.obolibrary.org/obo/DOID_11981 morbid obesity http://purl.obolibrary.org/obo/DOID_9970 obesity http://purl.obolibrary.org/obo/HP_0410008 Abnormality of the peripheral nervous system http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/DOID_0070642 hereditary spastic paraplegia 72B http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in compound heterozygous mutation in the REEP2 gene on chromosome 5q31. http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/NCBITaxon_2720872 Fumigati http://purl.obolibrary.org/obo/NCBITaxon_5052 Aspergillus http://purl.obolibrary.org/obo/DOID_0070643 hereditary spastic paraplegia 91 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. http://purl.obolibrary.org/obo/HP_0001480 Freckling http://purl.obolibrary.org/obo/HP_0001000 Abnormal skin pigmentation http://purl.obolibrary.org/obo/NCBITaxon_2790996 Mycoplasmoidales http://purl.obolibrary.org/obo/NCBITaxon_544448 Mycoplasmatota http://purl.obolibrary.org/obo/HP_0004326 Cachexia http://purl.obolibrary.org/obo/HP_0001824 Weight loss http://purl.obolibrary.org/obo/DOID_0070645 hereditary spastic paraplegia 93 http://purl.obolibrary.org/obo/DOID_2476 hereditary spastic paraplegia A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13. http://purl.obolibrary.org/obo/DOID_0070646 hereditary spastic paraplegia 30B http://purl.obolibrary.org/obo/DOID_0110781 hereditary spastic paraplegia 30 A hereditary spastic paraplegia 30 that has_material_basis_in homozygous mutation in the KIF1A gene on chromosome 2q37. http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/HP_0033100 Increased proteinogenic amino acid level in urine http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/DOID_0070647 hereditary spastic paraplegia 30A http://purl.obolibrary.org/obo/DOID_0110781 hereditary spastic paraplegia 30 A hereditary spastic paraplegia 30 that has_material_basis_in heterozygous mutation in the KIF1A gene on chromosome 2q37. http://purl.obolibrary.org/obo/NCBITaxon_37104 Trichomonadida http://purl.obolibrary.org/obo/NCBITaxon_5719 Parabasalia http://purl.obolibrary.org/obo/NCBITaxon_11077 Kunjin virus http://purl.obolibrary.org/obo/NCBITaxon_11082 West Nile virus http://purl.obolibrary.org/obo/DOID_0070648 cherubism http://purl.obolibrary.org/obo/DOID_0080011 bone resorption disease A bone resorption disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling. http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/NCBITaxon_121224 Pediculus humanus corporis http://purl.obolibrary.org/obo/NCBITaxon_121225 Pediculus humanus http://purl.obolibrary.org/obo/DOID_0070649 cherubism 2 http://purl.obolibrary.org/obo/DOID_0070648 cherubism A cherubism that has_material_basis_in homozygous mutation in the OGFRL1 gene on chromosome 6q13. http://purl.obolibrary.org/obo/SO_0001785 structural_alteration http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/NCBITaxon_11053 dengue virus type 1 http://purl.obolibrary.org/obo/NCBITaxon_12637 Dengue virus http://purl.obolibrary.org/obo/DOID_0070650 Ramon syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth. http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/NCBITaxon_47466 Borrelia miyamotoi http://purl.obolibrary.org/obo/NCBITaxon_138 Borrelia http://purl.obolibrary.org/obo/DOID_0070651 neurodevelopmental disorder with seizures and gingival overgrowth http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a variable phenotype primarily including seizures, gingival overgrowth, a prominent mandible or cherubism, and mental deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D2B gene on chromosome 15q24. Other more variable features include coarse facial features, optic atrophy, sensorineural hearing loss, ataxia, hypotonia, delayed development or developmental regression, cerebellar or cerebral atrophy, and enlarged brain ventricles. http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/SO_0002162 short_tandem_repeat_expansion http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/NCBITaxon_1639 Listeria monocytogenes http://purl.obolibrary.org/obo/NCBITaxon_1637 Listeria http://purl.obolibrary.org/obo/DOID_0070652 Nil-Deshwar neurodevelopmental syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13. http://purl.obolibrary.org/obo/SO_0002163 short_tandem_repeat_contraction http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/DOID_0070654 desmosterolosis http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32. http://purl.obolibrary.org/obo/SO_0002165 trinucleotide_repeat_expansion http://purl.obolibrary.org/obo/SO_0002162 short_tandem_repeat_expansion http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/DOID_0070655 Usher syndrome type 1B http://purl.obolibrary.org/obo/DOID_0110826 Usher syndrome type 1 An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the MYO7A gene on chromosome 11q13. http://purl.obolibrary.org/obo/NCBITaxon_172148 Alkhumra hemorrhagic fever virus http://purl.obolibrary.org/obo/NCBITaxon_33743 Kyasanur Forest disease virus http://purl.obolibrary.org/obo/NCBITaxon_34620 Dermacentor andersoni http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/NCBITaxon_34621 Dermacentor variabilis http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/DOID_0070656 hamartoma syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome A syndrome characterized by the presence of multiple benign growths called hamartomas and an increased risk of cancer. http://purl.obolibrary.org/obo/NCBITaxon_49202 Dermacentor marginatus http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/NCBITaxon_61462 Gnathostomatoidea http://purl.obolibrary.org/obo/NCBITaxon_2072717 Gnathostomatomorpha http://purl.obolibrary.org/obo/DOID_0070657 congenital variant of Rett syndrome http://purl.obolibrary.org/obo/DOID_936 brain disease A pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation that has_material_basis_in heterozygous mutation in the FOXG1 gene on chromosome 14q13, encoding forkhead box protein G1. http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_2082224 Strongyloidoidea http://purl.obolibrary.org/obo/NCBITaxon_2082223 Panagrolaimomorpha http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/NCBITaxon_112252 Fungi incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/DOID_0070658 alcohol-associated liver disease http://purl.obolibrary.org/obo/DOID_409 liver disease A liver disease resulting from excessive alcohol intake. http://purl.obolibrary.org/obo/GENO_0000148 autosomal recessive inheritance http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/FOODON_00001811 dill food product http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/DOID_0070659 alpha-gal syndrome http://purl.obolibrary.org/obo/DOID_1205 allergic disease An allergic disease that is triggered by galactose-alpha-1,3-galactose (alpha-gal). Sensitization usually results from a tick bite. Symptoms most often appear 2-6 hours after eating mammalian meat but may also be triggered by mamalian-derived products. http://purl.obolibrary.org/obo/FOODON_00002084 parsley food product http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/DOID_0070660 Lafora disease 1 http://purl.obolibrary.org/obo/DOID_3534 Lafora disease A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24. http://purl.obolibrary.org/obo/GENO_0000970 chromosomal deletion inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/NCBITaxon_2036922 Cladosporium cf. cladosporoides http://purl.obolibrary.org/obo/NCBITaxon_5498 Cladosporium http://purl.obolibrary.org/obo/DOID_0070661 muscle dysmorphic disorder http://purl.obolibrary.org/obo/DOID_0060163 body dysmorphic disorder A body dysmorphic disorder characterized by a persistent belief that one’s physique is insufficiently muscular or lean, even when having a normal-to-very muscular build. http://purl.obolibrary.org/obo/GENO_0000971 chromosomal duplication inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/NCBITaxon_523103 Trichophyton mentagrophytes http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/DOID_0070662 subcutaneous panniculitis-like T-cell lymphoma http://purl.obolibrary.org/obo/DOID_0060061 primary cutaneous T-cell non-Hodgkin lymphoma A primary cutaneous T-cell non-Hodgkin lymphoma characterized by infiltration of subcutaneous tissue by neoplastic alpha-beta cytotoxic T cells mimicking panniculitis. Homozygous or compound heterozygous mutation in the HAVCR2 gene may contribute to development of this disease, with some evidence of incomplete penetrance. http://purl.obolibrary.org/obo/GENO_0000972 chromosomal rearrangement inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_63417 Trichophyton verrucosum http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/DOID_0070663 soft tissue sarcoma http://purl.obolibrary.org/obo/DOID_201 connective tissue cancer A connective tissue cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm and starts in the soft tissues of the body (e.g. fat, muscle, nerves, blood vessels). http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_63418 Trichophyton equinum http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/DOID_0070664 oropharyngeal squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_1749 squamous cell carcinoma An oropharynx cancer that derives_from squamous epithelial cells. http://purl.obolibrary.org/obo/NCBITaxon_543769 Rhizaria http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_63419 Trichophyton concentricum http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/DOID_3972 poorly differentiated thyroid carcinoma http://purl.obolibrary.org/obo/DOID_3963 thyroid gland carcinoma A thyroid gland carcinoma characterized by intermediate follicular cell differentiation and either high mitotic activity or tumor necrosis. http://purl.obolibrary.org/obo/DOID_60004 malignant cystadenoma http://purl.obolibrary.org/obo/DOID_0080364 malignant adenoma http://purl.obolibrary.org/obo/NCBITaxon_746128 Aspergillus fumigatus http://purl.obolibrary.org/obo/NCBITaxon_2720872 Fumigati http://purl.obolibrary.org/obo/NCBITaxon_5553 Trichosporon beigelii http://purl.obolibrary.org/obo/NCBITaxon_5552 Trichosporon http://purl.obolibrary.org/obo/SYMP_0000128 conjunctivitis http://purl.obolibrary.org/obo/SYMP_0020034 conjunctiva symptom http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_3151837 Elliovirales http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_3151837 Elliovirales http://purl.obolibrary.org/obo/NCBITaxon_452563 Cladosporiaceae http://purl.obolibrary.org/obo/NCBITaxon_2726946 Cladosporiales http://purl.obolibrary.org/obo/NCBITaxon_418103 Plasmodium http://purl.obolibrary.org/obo/NCBITaxon_5820 Plasmodium http://purl.obolibrary.org/obo/NCBITaxon_32066 Fusobacteriota http://purl.obolibrary.org/obo/NCBITaxon_3384189 Fusobacteriati http://purl.obolibrary.org/obo/CHEBI_204928 cefotaxime http://purl.obolibrary.org/obo/CHEBI_38418 1,3-thiazoles http://purl.obolibrary.org/obo/NCBITaxon_668547 Teratosphaeriaceae http://purl.obolibrary.org/obo/NCBITaxon_2726947 Mycosphaerellales http://purl.obolibrary.org/obo/NCBITaxon_418107 Laverania http://purl.obolibrary.org/obo/NCBITaxon_5820 Plasmodium http://purl.obolibrary.org/obo/CHEBI_355510 cefotiam http://purl.obolibrary.org/obo/CHEBI_72588 semisynthetic derivative http://purl.obolibrary.org/obo/SYMP_0000592 excessive crying of infant http://purl.obolibrary.org/obo/SYMP_0000411 infant symptom http://purl.obolibrary.org/obo/NCBITaxon_29930 Ixodes pacificus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/CHEBI_3478 cefaclor http://purl.obolibrary.org/obo/CHEBI_23066 cephalosporin http://purl.obolibrary.org/obo/NCBITaxon_333750 Alphapapillomavirus http://purl.obolibrary.org/obo/NCBITaxon_2169595 Firstpapillomavirinae http://purl.obolibrary.org/obo/NCBITaxon_34613 Ixodes ricinus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/CHEBI_3508 ceftazidime http://purl.obolibrary.org/obo/CHEBI_36816 oxime O-ether http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_65647 Ixodes holocyclus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/CHEBI_472657 cefixime http://purl.obolibrary.org/obo/CHEBI_23066 cephalosporin http://purl.obolibrary.org/obo/SO_0001773 lethal_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_6945 Ixodes scapularis http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/SO_0001786 loss_of_heterozygosity http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/CHEBI_474859 maleic anhydride http://purl.obolibrary.org/obo/CHEBI_36609 cyclic dicarboxylic anhydride http://purl.obolibrary.org/obo/NCBITaxon_34615 Ixodes persulcatus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/SO_0002052 dominant_negative_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/CHEBI_3515 cefuroxime http://purl.obolibrary.org/obo/CHEBI_28084 3-(carbamoyloxymethyl)cephalosporin http://purl.obolibrary.org/obo/SO_0002053 gain_of_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_53542 Finlaya http://purl.obolibrary.org/obo/NCBITaxon_7158 Aedes http://purl.obolibrary.org/obo/CHEBI_8107 phenytoin http://purl.obolibrary.org/obo/CHEBI_24628 imidazolidine-2,4-dione http://purl.obolibrary.org/obo/SO_0002054 loss_of_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_53541 Stegomyia http://purl.obolibrary.org/obo/NCBITaxon_7158 Aedes http://purl.obolibrary.org/obo/CHEBI_37668 terpene lactone http://purl.obolibrary.org/obo/CHEBI_26873 terpenoid http://purl.obolibrary.org/obo/NCBITaxon_53527 Culex http://purl.obolibrary.org/obo/NCBITaxon_7174 Culex http://purl.obolibrary.org/obo/SO_0002055 null_mutation http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/CHEBI_35618 aromatic ether http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/NCBITaxon_780 Rickettsia http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/CHEBI_17522 alditol http://purl.obolibrary.org/obo/CHEBI_16646 carbohydrate http://purl.obolibrary.org/obo/NCBITaxon_114292 typhus group http://purl.obolibrary.org/obo/NCBITaxon_780 Rickettsia http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/CHEBI_36709 aminoquinoline http://purl.obolibrary.org/obo/CHEBI_33860 aromatic amine http://purl.obolibrary.org/obo/NCBITaxon_226665 Rickettsia conorii subsp. heilongjiangensis http://purl.obolibrary.org/obo/NCBITaxon_781 Rickettsia conorii http://purl.obolibrary.org/obo/NCBITaxon_11286 Lyssavirus http://purl.obolibrary.org/obo/NCBITaxon_2842407 Alpharhabdovirinae http://purl.obolibrary.org/obo/UBERON_0001085 skin of trunk http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/CHEBI_167099 benzo[d]isothiazol-3-one http://purl.obolibrary.org/obo/CHEBI_38101 organonitrogen heterocyclic compound http://purl.obolibrary.org/obo/NCBITaxon_2790998 Mycoplasmoidaceae http://purl.obolibrary.org/obo/NCBITaxon_2790996 Mycoplasmoidales http://purl.obolibrary.org/obo/NCBITaxon_3471199 Ribozyviria incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_2842242 Ribozyviria http://purl.obolibrary.org/obo/UBERON_0001415 skin of pelvis http://purl.obolibrary.org/obo/UBERON_0003836 abdominal segment skin http://purl.obolibrary.org/obo/CHEBI_35875 imidazopyrimidine http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/NCBITaxon_39759 Deltavirus http://purl.obolibrary.org/obo/NCBITaxon_2842321 Kolmioviridae http://purl.obolibrary.org/obo/CHEBI_35358 sulfonamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/UBERON_0003836 abdominal segment skin http://purl.obolibrary.org/obo/UBERON_0001085 skin of trunk http://purl.obolibrary.org/obo/UBERON_0015474 axilla skin http://purl.obolibrary.org/obo/UBERON_8480025 skin of clavicle region http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/NCBITaxon_6236 Rhabditida http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0005913 zone of bone organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0034979 nonchromaffin paraganglion http://purl.obolibrary.org/obo/UBERON_0034978 paraganglion (generic) http://purl.obolibrary.org/obo/CHEBI_50492 thiocarbonyl compound http://purl.obolibrary.org/obo/CHEBI_33261 organosulfur compound http://purl.obolibrary.org/obo/UBERON_8410021 inguinal region skin http://purl.obolibrary.org/obo/UBERON_0003836 abdominal segment skin http://purl.obolibrary.org/obo/SYMP_0020002 anal abscess http://purl.obolibrary.org/obo/SYMP_0000672 abscess http://purl.obolibrary.org/obo/CHEBI_16385 organic sulfide http://purl.obolibrary.org/obo/CHEBI_26822 sulfide http://purl.obolibrary.org/obo/CHEBI_33853 phenols http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/CHEBI_38831 2-benzofurans http://purl.obolibrary.org/obo/CHEBI_35259 benzofurans http://purl.obolibrary.org/obo/CHEBI_34718 1-chloro-2,4-dinitrobenzene http://purl.obolibrary.org/obo/CHEBI_83403 monochlorobenzenes http://purl.obolibrary.org/obo/UBERON_8480025 skin of clavicle region http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/SYMP_0000723 multiple abscesses http://purl.obolibrary.org/obo/SYMP_0000672 abscess http://purl.obolibrary.org/obo/NCBITaxon_10632 JC polyomavirus http://purl.obolibrary.org/obo/NCBITaxon_1891763 Betapolyomavirus secuhominis http://purl.obolibrary.org/obo/UBERON_8480029 skin of external genitalia http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/CHEBI_53050 trimellitic anhydride http://purl.obolibrary.org/obo/CHEBI_38831 2-benzofurans http://purl.obolibrary.org/obo/NCBITaxon_11572 Orthobunyavirus http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/UBERON_0000970 eye http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/CHEBI_36605 phthalic anhydride http://purl.obolibrary.org/obo/CHEBI_38831 2-benzofurans http://purl.obolibrary.org/obo/NCBITaxon_11584 Phlebovirus http://purl.obolibrary.org/obo/NCBITaxon_1980418 Phenuiviridae http://purl.obolibrary.org/obo/UBERON_0001723 tongue http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/CHEBI_24995 lactam http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/UBERON_0001690 ear http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/NCBITaxon_1891762 Betapolyomavirus hominis http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/CHEBI_26151 piperidines http://purl.obolibrary.org/obo/CHEBI_25693 organic heteromonocyclic compound http://purl.obolibrary.org/obo/UBERON_0002268 olfactory organ http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_0010230 eyeball of camera-type eye http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/NCBITaxon_1891763 Betapolyomavirus secuhominis http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_3052518 Orthonairovirus haemorrhagiae http://purl.obolibrary.org/obo/NCBITaxon_1980517 Orthonairovirus http://purl.obolibrary.org/obo/HP_0001880 Increased total eosinophil count http://purl.obolibrary.org/obo/HP_0020064 Abnormal total eosinophil count http://purl.obolibrary.org/obo/HP_0032158 Unusual infection by anatomical site http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/CHEBI_26421 pyridines http://purl.obolibrary.org/obo/CHEBI_25693 organic heteromonocyclic compound http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0001982 capillary http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/CHEBI_50893 azaarene http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/UBERON_0001004 respiratory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0001016 nervous system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/HP_4000072 Abnormal language feature http://purl.obolibrary.org/obo/HP_0034434 Abnormal communication http://purl.obolibrary.org/obo/CHEBI_26961 thiophenes http://purl.obolibrary.org/obo/CHEBI_38106 organosulfur heterocyclic compound http://purl.obolibrary.org/obo/UBERON_0001750 lacrimal apparatus http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/NCBITaxon_1783257 PVC group http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/CHEBI_48901 thiazoles http://purl.obolibrary.org/obo/CHEBI_68452 azole http://purl.obolibrary.org/obo/UBERON_0002204 musculoskeletal system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0002330 exocrine system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/CHEBI_46770 pyrrolidinecarboxamide http://purl.obolibrary.org/obo/CHEBI_29347 monocarboxylic acid amide http://purl.obolibrary.org/obo/CHEBI_55370 imidazolidinone http://purl.obolibrary.org/obo/CHEBI_38261 imidazolidines http://purl.obolibrary.org/obo/UBERON_0002416 integumental system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/NCBITaxon_203691 Spirochaetota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/CHEBI_161680 aztreonam http://purl.obolibrary.org/obo/CHEBI_88225 beta-lactam antibiotic allergen http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/NCBITaxon_29547 Campylobacterota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/CHEBI_138412 N,N'-diphenylthiourea http://purl.obolibrary.org/obo/CHEBI_51276 thioureas http://purl.obolibrary.org/obo/UBERON_0005409 alimentary part of gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0004122 genitourinary system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/NCBITaxon_573 Klebsiella pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_3390273 Klebsiella pneumoniae complex http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33672 heterobicyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/UBERON_8450002 excretory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/NCBITaxon_3407641 Hepatovirus ahepa http://purl.obolibrary.org/obo/NCBITaxon_3429217 Hepatovirus fejalco http://purl.obolibrary.org/obo/CHEBI_88187 penicillin allergen http://purl.obolibrary.org/obo/CHEBI_17334 penicillin http://purl.obolibrary.org/obo/HP_0020350 Abnormal circulating vitamin concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/CHEBI_8232 piperacillin http://purl.obolibrary.org/obo/CHEBI_88187 penicillin allergen http://purl.obolibrary.org/obo/HP_0430071 Abnormal circulating organic compound concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/UBERON_0001829 major salivary gland http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/CHEBI_48975 substituted aniline http://purl.obolibrary.org/obo/CHEBI_22562 anilines http://purl.obolibrary.org/obo/NCBITaxon_11118 Coronaviridae http://purl.obolibrary.org/obo/NCBITaxon_2499399 Cornidovirineae http://purl.obolibrary.org/obo/NCBITaxon_11040 Rubivirus http://purl.obolibrary.org/obo/NCBITaxon_2560066 Matonaviridae http://purl.obolibrary.org/obo/UBERON_0012102 buccal salivary gland http://purl.obolibrary.org/obo/UBERON_0001044 saliva-secreting gland http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/MIM_621588 susceptibility to epidermodysplasia verruciformis 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001184 renal artery http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_25367 molecule http://purl.obolibrary.org/obo/MIM_177900 susceptibility to psoriasis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary artery http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/CHEBI_53444 potassium dichromate http://purl.obolibrary.org/obo/CHEBI_26218 potassium salt http://purl.obolibrary.org/obo/MIM_601484 susceptibility to psoriasis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_2005036 supraintestinal artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/MIM_603935 susceptibility to psoriasis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_51447 organic univalent group http://purl.obolibrary.org/obo/CHEBI_33247 organic group http://purl.obolibrary.org/obo/UBERON_0035307 branch of vertebral artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/MIM_604316 susceptibility to psoriasis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001194 splenic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/CHEBI_8884 rocuronium http://purl.obolibrary.org/obo/CHEBI_50996 tertiary amino compound http://purl.obolibrary.org/obo/MIM_605364 susceptibility to psoriasis 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001620 central retinal artery http://purl.obolibrary.org/obo/UBERON_0003501 retina blood vessel http://purl.obolibrary.org/obo/CHEBI_53731 remazole black-GR http://purl.obolibrary.org/obo/CHEBI_48960 bis(azo) compound http://purl.obolibrary.org/obo/UBERON_0002458 spinal artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/MIM_607857 susceptibility to psoriasis 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/MIM_608391 susceptibility to autoimmune disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608392 susceptibility to autoimmune disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609400 susceptibility to autoimmune disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610707 susceptibility to psoriasis 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/CHEBI_32955 epoxide http://purl.obolibrary.org/obo/CHEBI_37407 cyclic ether http://purl.obolibrary.org/obo/MIM_612410 susceptibility to psoriasis 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004449 cerebral artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/MIM_614070 susceptibility to psoriasis 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/MIM_102300 susceptibility to restless legs syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0005616 mesenteric artery http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/MIM_106300 susceptibility to spondyloarthropathy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/MIM_125480 major affective disorder 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_26979 organic heterotricyclic compound http://purl.obolibrary.org/obo/CHEBI_36688 heterotricyclic compound http://purl.obolibrary.org/obo/UBERON_0001724 sphenoidal sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/MIM_126200 susceptibility to multiple sclerosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_140310 phenyl acetates http://purl.obolibrary.org/obo/CHEBI_22712 benzenes http://purl.obolibrary.org/obo/CHEBI_31635 neomycin sulfate http://purl.obolibrary.org/obo/CHEBI_60004 mixture http://purl.obolibrary.org/obo/UBERON_0001760 frontal sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/MIM_127700 susceptibility to dyslexia 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_5516 sodium aurothiomalate http://purl.obolibrary.org/obo/CHEBI_60004 mixture http://purl.obolibrary.org/obo/UBERON_0001764 maxillary sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/MIM_131200 susceptibility to endometriosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_22925 bromide salt http://purl.obolibrary.org/obo/CHEBI_33958 halide salt http://purl.obolibrary.org/obo/UBERON_0002453 ethmoid sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/MIM_133180 susceptibility to acute erythroid leukemia http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_23697 dichlorobenzene http://purl.obolibrary.org/obo/CHEBI_23132 chlorobenzenes http://purl.obolibrary.org/obo/UBERON_0002372 tonsil http://purl.obolibrary.org/obo/UBERON_0001962 gut-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001962 gut-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001961 mucosa-associated lymphoid tissue http://purl.obolibrary.org/obo/MIM_137800 glioma susceptibility 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0012330 nasal-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001962 gut-associated lymphoid tissue http://purl.obolibrary.org/obo/CHEBI_26888 tetrachlorobenzene http://purl.obolibrary.org/obo/CHEBI_23132 chlorobenzenes http://purl.obolibrary.org/obo/MIM_140600 osteoarthritis susceptibility 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0000007 pituitary gland http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/CHEBI_83403 monochlorobenzenes http://purl.obolibrary.org/obo/CHEBI_23132 chlorobenzenes http://purl.obolibrary.org/obo/MIM_142623 susceptibility to hirschsprung disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001132 parathyroid gland http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/CHEBI_23367 molecular entity http://purl.obolibrary.org/obo/MIM_145600 susceptibility to malignant hyperthermia 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_59999 chemical substance http://purl.obolibrary.org/obo/CHEBI_24431 chemical entity http://purl.obolibrary.org/obo/UBERON_0002046 thyroid gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/MIM_146500 susceptibility to multiple system atrophy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_148000 susceptibility to kaposi sarcoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_155600 susceptibility to cutaneous malignant melanoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_23117 chlorine molecular entity http://purl.obolibrary.org/obo/CHEBI_24471 halogen molecular entity http://purl.obolibrary.org/obo/UBERON_0002370 thymus http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/MIM_155601 susceptibility to cutaneous malignant melanoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_37578 halide http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/UBERON_0006858 adrenal/interrenal gland http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/MIM_165720 osteoarthritis susceptibility 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_166760 susceptibility to otitis media http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_181000 susceptibility to sarcoidosis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/MIM_181800 susceptibility to isolated scoliosis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_38104 oxacycle http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/UBERON_0000114 lung connective tissue http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/MIM_182940 susceptibility to neural tube defects http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/MIM_185100 susceptibility to strabismus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_24868 organic salt http://purl.obolibrary.org/obo/CHEBI_24866 salt http://purl.obolibrary.org/obo/UBERON_0003570 respiratory system connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/MIM_188890 susceptibility to tobacco addiction http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_35479 alkali metal salt http://purl.obolibrary.org/obo/CHEBI_33296 alkali metal molecular entity http://purl.obolibrary.org/obo/UBERON_0003580 lower respiratory tract connective tissue http://purl.obolibrary.org/obo/UBERON_0003570 respiratory system connective tissue http://purl.obolibrary.org/obo/MIM_212750 susceptibility to celiac disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_36389 saturated organic heteromonocyclic parent http://purl.obolibrary.org/obo/CHEBI_36388 saturated organic heterocyclic parent http://purl.obolibrary.org/obo/UBERON_0003586 trunk connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/CHEBI_25697 organic cation http://purl.obolibrary.org/obo/CHEBI_36916 cation http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/CHEBI_36962 organochalcogen compound http://purl.obolibrary.org/obo/CHEBI_38700 organic sodium salt http://purl.obolibrary.org/obo/CHEBI_24868 organic salt http://purl.obolibrary.org/obo/CHEBI_26658 sesquiterpenoid http://purl.obolibrary.org/obo/CHEBI_26873 terpenoid http://purl.obolibrary.org/obo/MIM_215400 susceptibility to chordoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003837 thoracic segment connective tissue http://purl.obolibrary.org/obo/UBERON_0003586 trunk connective tissue http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/CHEBI_32988 amide http://purl.obolibrary.org/obo/MIM_226400 susceptibility to epidermodysplasia verruciformis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/CHEBI_35507 natural product fundamental parent http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent http://purl.obolibrary.org/obo/MIM_235400 susceptibility to atypical hemolytic uremic syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/CHEBI_35552 heterocyclic organic fundamental parent http://purl.obolibrary.org/obo/CHEBI_33245 organic fundamental parent http://purl.obolibrary.org/obo/MIM_245300 susceptibility to kuru http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0019231 manual digit 1 or 5 http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/CHEBI_51143 nitrogen molecular entity http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/MIM_246300 susceptibility to leprosy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_86494 botanical anti-fungal agent http://purl.obolibrary.org/obo/CHEBI_33285 heteroorganic entity http://purl.obolibrary.org/obo/UBERON_0004913 hepatopancreatic ampulla http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/CHEBI_35881 pnictogen hydride http://purl.obolibrary.org/obo/CHEBI_33242 inorganic hydride http://purl.obolibrary.org/obo/MIM_256700 susceptibility to neuroblastoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/CHEBI_33304 chalcogen molecular entity http://purl.obolibrary.org/obo/UBERON_0003135 male reproductive organ http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/MIM_258660 susceptibility to nonarteritic anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33561 d-block element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/UBERON_0008811 intromittent organ http://purl.obolibrary.org/obo/UBERON_0003135 male reproductive organ http://purl.obolibrary.org/obo/MIM_300125 susceptibility to migraine with or without aura 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300351 susceptibility to Graves disease X-linked 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/CHEBI_33521 metal atom http://purl.obolibrary.org/obo/UBERON_0000029 lymph node http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_300425 susceptibility to X-linked autism 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/CHEBI_33521 metal atom http://purl.obolibrary.org/obo/UBERON_0002106 spleen http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/MIM_300494 susceptibility to X-linked asperger syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/CHEBI_33582 carbon group molecular entity http://purl.obolibrary.org/obo/MIM_300495 susceptibility to X-linked autism 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001385 tibialis anterior http://purl.obolibrary.org/obo/UBERON_0008230 tibialis http://purl.obolibrary.org/obo/UBERON_8440011 cortical visual area http://purl.obolibrary.org/obo/UBERON_0035014 functional part of brain http://purl.obolibrary.org/obo/MIM_300496 susceptibility to X-linked autism 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001299 glans penis http://purl.obolibrary.org/obo/UBERON_0035651 glans http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/NCBITaxon_33278 Ancylostomatidae http://purl.obolibrary.org/obo/NCBITaxon_27829 Strongyloidea http://purl.obolibrary.org/obo/MIM_300497 susceptibility to X-linked asperger syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/NCBITaxon_55271 Metastrongylidae http://purl.obolibrary.org/obo/NCBITaxon_27829 Strongyloidea http://purl.obolibrary.org/obo/MIM_300830 susceptibility to X-linked autism 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_51958 organic polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/NCBITaxon_119095 Capillaria http://purl.obolibrary.org/obo/NCBITaxon_455381 Capillariidae http://purl.obolibrary.org/obo/MIM_300847 susceptibility to X-linked autism 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_51402 phenylenediamine http://purl.obolibrary.org/obo/CHEBI_33860 aromatic amine http://purl.obolibrary.org/obo/NCBITaxon_51031 Necator americanus http://purl.obolibrary.org/obo/NCBITaxon_51030 Necator http://purl.obolibrary.org/obo/MIM_300872 susceptibility to X-linked autism 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_25865 penicillanic acids http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/NCBITaxon_6248 Strongyloides stercoralis http://purl.obolibrary.org/obo/NCBITaxon_6247 Strongyloides http://purl.obolibrary.org/obo/NCBITaxon_1535325 Candida/Lodderomyces clade http://purl.obolibrary.org/obo/NCBITaxon_766764 Debaryomycetaceae http://purl.obolibrary.org/obo/MIM_300909 susceptibility to angioedema induced by ace inhibitors http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_48960 bis(azo) compound http://purl.obolibrary.org/obo/CHEBI_37533 azo compound http://purl.obolibrary.org/obo/NCBITaxon_3981 Hevea brasiliensis http://purl.obolibrary.org/obo/NCBITaxon_3980 Hevea http://purl.obolibrary.org/obo/MIM_309200 major affective disorder 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_600155 susceptibility to hirschsprung disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_22682 azobenzenes http://purl.obolibrary.org/obo/CHEBI_22712 benzenes http://purl.obolibrary.org/obo/NCBITaxon_55194 Malassezia furfur http://purl.obolibrary.org/obo/NCBITaxon_55193 Malassezia http://purl.obolibrary.org/obo/NCBITaxon_6247 Strongyloides http://purl.obolibrary.org/obo/NCBITaxon_6246 Strongyloididae http://purl.obolibrary.org/obo/MIM_600807 susceptibility to asthma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33241 oxoacid derivative http://purl.obolibrary.org/obo/CHEBI_37577 heteroatomic molecular entity http://purl.obolibrary.org/obo/MIM_601744 susceptibility to systemic lupus erythematosus 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_162474 Malasseziales http://purl.obolibrary.org/obo/NCBITaxon_1538075 Malasseziomycetes http://purl.obolibrary.org/obo/NCBITaxon_204428 Chlamydiota http://purl.obolibrary.org/obo/NCBITaxon_1783257 PVC group http://purl.obolibrary.org/obo/NCBITaxon_79922 Clonorchis http://purl.obolibrary.org/obo/NCBITaxon_6196 Opisthorchiidae http://purl.obolibrary.org/obo/NCBITaxon_6264 Toxocara http://purl.obolibrary.org/obo/NCBITaxon_33259 Toxocaridae http://purl.obolibrary.org/obo/CHEBI_35274 ammonium ion derivative http://purl.obolibrary.org/obo/CHEBI_33702 polyatomic cation http://purl.obolibrary.org/obo/MIM_601887 susceptibility to malignant hyperthermia 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_603388 susceptibility to Graves disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_53477 Bunostominae http://purl.obolibrary.org/obo/NCBITaxon_33278 Ancylostomatidae http://purl.obolibrary.org/obo/NCBITaxon_51030 Necator http://purl.obolibrary.org/obo/NCBITaxon_53477 Bunostominae http://purl.obolibrary.org/obo/CHEBI_35790 oxazole http://purl.obolibrary.org/obo/CHEBI_38104 oxacycle http://purl.obolibrary.org/obo/MIM_604370 susceptibility to familial breast-ovarian cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0031481 Abnormal mitral valve physiology http://purl.obolibrary.org/obo/HP_0031650 Abnormal atrioventricular valve physiology http://purl.obolibrary.org/obo/CHEBI_84144 L-phenylalanine derivative http://purl.obolibrary.org/obo/CHEBI_25985 phenylalanine derivative http://purl.obolibrary.org/obo/HP_0031650 Abnormal atrioventricular valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/MIM_605218 susceptibility to systemic lupus erythematosus 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_83925 non-proteinogenic alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/MIM_605462 susceptibility to basal cell carcinoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_39447 pyrimidines http://purl.obolibrary.org/obo/CHEBI_38313 diazines http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/NCBITaxon_2497574 Monjiviricetes http://purl.obolibrary.org/obo/MIM_605990 susceptibility to uric acid nephrolithiasis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_38785 morpholines http://purl.obolibrary.org/obo/CHEBI_46952 oxazinane http://purl.obolibrary.org/obo/NCBITaxon_11308 Orthomyxoviridae http://purl.obolibrary.org/obo/NCBITaxon_2499411 Articulavirales http://purl.obolibrary.org/obo/MIM_606217 susceptibility to atrioventricular septal defect 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0008665 Clitoral hypertrophy http://purl.obolibrary.org/obo/HP_0040253 Increased size of the clitoris http://purl.obolibrary.org/obo/NCBITaxon_11229 Morbillivirus http://purl.obolibrary.org/obo/NCBITaxon_2560076 Orthoparamyxovirinae http://purl.obolibrary.org/obo/MIM_606581 susceptibility to polysubstance abuse http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_160 Treponema pallidum http://purl.obolibrary.org/obo/NCBITaxon_157 Treponema http://purl.obolibrary.org/obo/NCBITaxon_260964 Henipavirus http://purl.obolibrary.org/obo/NCBITaxon_2560076 Orthoparamyxovirinae http://purl.obolibrary.org/obo/MIM_606657 susceptibility to normal tension glaucoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6181 Schistosoma http://purl.obolibrary.org/obo/NCBITaxon_31245 Schistosomatidae http://purl.obolibrary.org/obo/NCBITaxon_3433633 Betacoronavirus cameli http://purl.obolibrary.org/obo/NCBITaxon_2509494 Merbecovirus http://purl.obolibrary.org/obo/MIM_606788 susceptibility to anorexia nervosa http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_63405 Microsporum canis http://purl.obolibrary.org/obo/NCBITaxon_34392 Microsporum http://purl.obolibrary.org/obo/NCBITaxon_555406 Archamoebae http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/MIM_606798 susceptibility to benign essential blepharospasm http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_43075 Trichomonas tenax http://purl.obolibrary.org/obo/NCBITaxon_5721 Trichomonas http://purl.obolibrary.org/obo/NCBITaxon_2497570 Haploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/MIM_606856 susceptibility to pancreatic cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_5722 Trichomonas vaginalis http://purl.obolibrary.org/obo/NCBITaxon_5721 Trichomonas http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/MIM_607174 susceptibility to familial meningioma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_666 Vibrio cholerae http://purl.obolibrary.org/obo/NCBITaxon_662 Vibrio http://purl.obolibrary.org/obo/NCBITaxon_2497574 Monjiviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497570 Haploviricotina http://purl.obolibrary.org/obo/MIM_607248 glioma susceptibility 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_5758 Entamoeba http://purl.obolibrary.org/obo/NCBITaxon_33084 Entamoebidae http://purl.obolibrary.org/obo/NCBITaxon_2497577 Insthoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/MIM_607354 susceptibility to isolated scoliosis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_5500 Coccidioides http://purl.obolibrary.org/obo/NCBITaxon_33184 Onygenaceae http://purl.obolibrary.org/obo/NCBITaxon_3151693 Bunyaviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2499411 Articulavirales http://purl.obolibrary.org/obo/NCBITaxon_2497577 Insthoviricetes http://purl.obolibrary.org/obo/NCBITaxon_3418604 Betacoronavirus pandemicum http://purl.obolibrary.org/obo/NCBITaxon_2509511 Sarbecovirus http://purl.obolibrary.org/obo/MIM_607373 susceptibility to autism 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607499 susceptibility to bulimia nervosa http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6282 Onchocerca volvulus http://purl.obolibrary.org/obo/NCBITaxon_6281 Onchocerca http://purl.obolibrary.org/obo/NCBITaxon_116925 Troglotremata http://purl.obolibrary.org/obo/NCBITaxon_27871 Plagiorchiida http://purl.obolibrary.org/obo/NCBITaxon_12721 Human immunodeficiency virus http://purl.obolibrary.org/obo/NCBITaxon_348386 unclassified Lentivirus http://purl.obolibrary.org/obo/HP_0025745 Abnormal urine amino acid level http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level http://purl.obolibrary.org/obo/MIM_607507 psoriatic arthritis susceptibility http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_99737 Echinostomatidae http://purl.obolibrary.org/obo/NCBITaxon_404429 Echinostomatoidea http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/NCBITaxon_3151693 Bunyaviricetes http://purl.obolibrary.org/obo/MIM_607516 susceptibility to migraine with or without aura 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_5693 Trypanosoma cruzi http://purl.obolibrary.org/obo/NCBITaxon_47570 Schizotrypanum http://purl.obolibrary.org/obo/CHEBI_83822 non-proteinogenic L-alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_83925 non-proteinogenic alpha-amino acid http://purl.obolibrary.org/obo/MIM_607688 susceptibility to autosomal dominant parkinson disease 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6196 Opisthorchiidae http://purl.obolibrary.org/obo/NCBITaxon_6194 Opisthorchiata http://purl.obolibrary.org/obo/CHEBI_76224 aromatic ketone http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/MIM_607832 susceptibility to focal segmental glomerulosclerosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_2082223 Panagrolaimomorpha http://purl.obolibrary.org/obo/NCBITaxon_6300 Tylenchina http://purl.obolibrary.org/obo/CHEBI_102166 thiopental http://purl.obolibrary.org/obo/CHEBI_22693 barbiturates http://purl.obolibrary.org/obo/MIM_607836 susceptibility to autoimmune disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_5738 Diplomonadida http://purl.obolibrary.org/obo/NCBITaxon_207245 Fornicata http://purl.obolibrary.org/obo/CHEBI_8069 phenobarbital http://purl.obolibrary.org/obo/CHEBI_22693 barbiturates http://purl.obolibrary.org/obo/MIM_607850 osteoarthritis susceptibility 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_29169 Ancylostoma http://purl.obolibrary.org/obo/NCBITaxon_53469 Ancylostomatinae http://purl.obolibrary.org/obo/CHEBI_22723 benzoic acids http://purl.obolibrary.org/obo/CHEBI_33859 aromatic carboxylic acid http://purl.obolibrary.org/obo/MIM_608049 susceptibility to autism 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_68459 Giardiinae http://purl.obolibrary.org/obo/NCBITaxon_5739 Hexamitidae http://purl.obolibrary.org/obo/CHEBI_51683 methoxybenzenes http://purl.obolibrary.org/obo/CHEBI_35618 aromatic ether http://purl.obolibrary.org/obo/MIM_608446 susceptibility to myocardial infarction http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6251 Ascaris http://purl.obolibrary.org/obo/NCBITaxon_6250 Ascarididae http://purl.obolibrary.org/obo/CHEBI_35871 oxo monocarboxylic acid http://purl.obolibrary.org/obo/CHEBI_25754 oxo carboxylic acid http://purl.obolibrary.org/obo/MIM_608556 susceptibility to legionnaire disease http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_329110 Coquillettidia http://purl.obolibrary.org/obo/NCBITaxon_254792 Mansoniini http://purl.obolibrary.org/obo/CHEBI_79020 alpha,beta-unsaturated monocarboxylic acid http://purl.obolibrary.org/obo/CHEBI_25384 monocarboxylic acid http://purl.obolibrary.org/obo/MIM_608709 susceptibility to partial acquired lipodystrophy http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6191 Fasciola http://purl.obolibrary.org/obo/NCBITaxon_27843 Fasciolidae http://purl.obolibrary.org/obo/CHEBI_9334 sulfasalazine http://purl.obolibrary.org/obo/CHEBI_22682 azobenzenes http://purl.obolibrary.org/obo/MIM_608765 susceptibility to isolated scoliosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6180 Strigeidida http://purl.obolibrary.org/obo/NCBITaxon_6179 Digenea http://purl.obolibrary.org/obo/CHEBI_37667 sesquiterpene lactone http://purl.obolibrary.org/obo/CHEBI_37668 terpene lactone http://purl.obolibrary.org/obo/MIM_608812 susceptibility to colorectal cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6295 Filarioidea http://purl.obolibrary.org/obo/NCBITaxon_2072716 Spiruromorpha http://purl.obolibrary.org/obo/CHEBI_36181 succinate ester http://purl.obolibrary.org/obo/CHEBI_33308 carboxylic ester http://purl.obolibrary.org/obo/MIM_608831 susceptibility to restless legs syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0002113 Pulmonary infiltrates http://purl.obolibrary.org/obo/HP_0031983 Abnormal pulmonary thoracic imaging finding http://purl.obolibrary.org/obo/CHEBI_25384 monocarboxylic acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/MIM_608864 susceptibility to orofacial cleft 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/DOID_13269 hereditary coproporphyria http://purl.obolibrary.org/obo/DOID_3133 acute porphyria http://purl.obolibrary.org/obo/CHEBI_25754 oxo carboxylic acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/MIM_608901 susceptibility to coronary heart disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/CHEBI_15705 L-alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/MIM_609048 susceptibility to cutaneous malignant melanoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_2732397 Pararnavirae http://purl.obolibrary.org/obo/NCBITaxon_2559587 Riboviria http://purl.obolibrary.org/obo/CHEBI_38179 monocyclic heteroarene http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/MIM_609148 susceptibility to mild malaria http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_216285 Trochoidea http://purl.obolibrary.org/obo/NCBITaxon_2315720 Trochida http://purl.obolibrary.org/obo/CHEBI_22712 benzenes http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/MIM_609378 susceptibility to autism 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_27829 Strongyloidea http://purl.obolibrary.org/obo/NCBITaxon_2301119 Rhabditomorpha http://purl.obolibrary.org/obo/CHEBI_26195 polyphenol http://purl.obolibrary.org/obo/CHEBI_33853 phenols http://purl.obolibrary.org/obo/MIM_609423 susceptibility to human immunodeficiency virus type 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_29178 Foraminifera http://purl.obolibrary.org/obo/NCBITaxon_2662056 Retaria http://purl.obolibrary.org/obo/MIM_609532 susceptibility to hepatitis C virus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_5719 Parabasalia http://purl.obolibrary.org/obo/NCBITaxon_2611341 Metamonada http://purl.obolibrary.org/obo/CHEBI_34444 4-tert-butylphenol http://purl.obolibrary.org/obo/CHEBI_33853 phenols http://purl.obolibrary.org/obo/MIM_609633 major affective disorder 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_10911 Coltivirus http://purl.obolibrary.org/obo/NCBITaxon_2946187 Spinareoviridae http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/NCBITaxon_2946630 Ensavirinae http://purl.obolibrary.org/obo/CHEBI_22315 alkaloid http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/MIM_609753 susceptibility to celiac disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_12091 Hepatovirus http://purl.obolibrary.org/obo/NCBITaxon_2946633 Heptrevirinae http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/MIM_609755 susceptibility to celiac disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_83821 amino-acid derivative http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/NCBITaxon_1809 Mycobacterium ulcerans http://purl.obolibrary.org/obo/NCBITaxon_2993898 Mycobacterium ulcerans group http://purl.obolibrary.org/obo/MIM_610297 susceptibility to autosomal dominant parkinson disease 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_24436 guanidines http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/NCBITaxon_6760 Scylla http://purl.obolibrary.org/obo/NCBITaxon_600346 Portuninae http://purl.obolibrary.org/obo/MIM_610438 susceptibility to restless legs syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_87228 sulfonamide antibiotic http://purl.obolibrary.org/obo/CHEBI_35358 sulfonamide http://purl.obolibrary.org/obo/CHEBI_9332 sulfamethoxazole http://purl.obolibrary.org/obo/CHEBI_87228 sulfonamide antibiotic http://purl.obolibrary.org/obo/NCBITaxon_2104 Mycoplasmoides pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_2995234 Mycoplasmoides http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/MIM_610439 susceptibility to restless legs syndrome 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0016410 male breast http://purl.obolibrary.org/obo/UBERON_0000310 breast http://purl.obolibrary.org/obo/CHEBI_33308 carboxylic ester http://purl.obolibrary.org/obo/CHEBI_35701 ester http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/NCBITaxon_426437 Rhipicephalinae http://purl.obolibrary.org/obo/MIM_610676 susceptibility to autism 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/NCBITaxon_34630 Rhipicephalus http://purl.obolibrary.org/obo/NCBITaxon_426437 Rhipicephalinae http://purl.obolibrary.org/obo/MIM_610836 susceptibility to autism 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_17478 aldehyde http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/SYMP_0020021 abnormal wound healing http://purl.obolibrary.org/obo/SYMP_0000092 skin lesion http://purl.obolibrary.org/obo/MIM_610839 osteoarthritis susceptibility 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_35873 carboxylic anhydride http://purl.obolibrary.org/obo/CHEBI_36606 acid anhydride http://purl.obolibrary.org/obo/SYMP_0020028 poor wound healing http://purl.obolibrary.org/obo/SYMP_0000092 skin lesion http://purl.obolibrary.org/obo/MIM_610908 susceptibility to autism 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_35701 ester http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/HP_0033338 Abnormal female meiosis http://purl.obolibrary.org/obo/HP_0031515 Abnormal meiosis http://purl.obolibrary.org/obo/MIM_610927 susceptibility to systemic lupus erythematosus 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/HP_0034644 Abnormal liver metabolite concentration http://purl.obolibrary.org/obo/HP_0032243 Abnormal tissue metabolite concentration http://purl.obolibrary.org/obo/MIM_610938 susceptibility to coronary heart disease 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_26596 salicylates http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/NCBITaxon_34353 Dipodascaceae http://purl.obolibrary.org/obo/NCBITaxon_3243772 Dipodascales http://purl.obolibrary.org/obo/MIM_610988 susceptibility to leprosy 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_29347 monocarboxylic acid amide http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/DOID_572 mononeuritis of upper limb and mononeuritis multiplex http://purl.obolibrary.org/obo/DOID_1802 mononeuritis http://purl.obolibrary.org/obo/MIM_611015 susceptibility to autism 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_38337 pyrimidone http://purl.obolibrary.org/obo/CHEBI_39447 pyrimidines http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/DOID_1802 mononeuritis http://purl.obolibrary.org/obo/MIM_611016 susceptibility to autism 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_38418 1,3-thiazoles http://purl.obolibrary.org/obo/CHEBI_48901 thiazoles http://purl.obolibrary.org/obo/DOID_292 lacrimal system cancer http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/MIM_611162 susceptibility to malaria http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_78840 olefinic compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/DOID_5467 conjunctival cancer http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/MIM_611185 susceptibility to restless legs syndrome 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_72588 semisynthetic derivative http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/DOID_6199 cornea cancer http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/MIM_611242 susceptibility to restless legs syndrome 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_64709 organic acid http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/MIM_611247 major affective disorder 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_36606 acid anhydride http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/DOID_746 adenomatoid tumor http://purl.obolibrary.org/obo/DOID_2645 benign mesothelioma http://purl.obolibrary.org/obo/MIM_611469 susceptibility to colorectal cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_51069 organic halide salt http://purl.obolibrary.org/obo/CHEBI_24868 organic salt http://purl.obolibrary.org/obo/DOID_5974 renal pelvis transitional cell carcinoma http://purl.obolibrary.org/obo/DOID_4919 renal pelvis carcinoma http://purl.obolibrary.org/obo/MIM_611535 major affective disorder 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_128458 disodium cromoglycate http://purl.obolibrary.org/obo/CHEBI_38700 organic sodium salt http://purl.obolibrary.org/obo/DOID_1201 trigeminal nerve neoplasm http://purl.obolibrary.org/obo/DOID_2815 cranial nerve malignant neoplasm http://purl.obolibrary.org/obo/MIM_611536 major affective disorder 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_53767 chloramine T http://purl.obolibrary.org/obo/CHEBI_38700 organic sodium salt http://purl.obolibrary.org/obo/DOID_12984 vagus nerve neoplasm http://purl.obolibrary.org/obo/DOID_2815 cranial nerve malignant neoplasm http://purl.obolibrary.org/obo/MIM_611942 susceptibility to childhood absence epilepsy 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_24583 hexitol http://purl.obolibrary.org/obo/CHEBI_17522 alditol http://purl.obolibrary.org/obo/DOID_14125 abducens nerve neoplasm http://purl.obolibrary.org/obo/DOID_2815 cranial nerve malignant neoplasm http://purl.obolibrary.org/obo/MIM_612100 susceptibility to autism 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_47857 ureas http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/DOID_409 liver disease http://purl.obolibrary.org/obo/DOID_3118 hepatobiliary disease http://purl.obolibrary.org/obo/MIM_612229 susceptibility to colorectal cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_48369 organic bromide salt http://purl.obolibrary.org/obo/CHEBI_51069 organic halide salt http://purl.obolibrary.org/obo/DOID_5940 malignant peripheral nerve sheath tumor http://purl.obolibrary.org/obo/DOID_3193 peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/MIM_612230 susceptibility to colorectal cancer 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_26822 sulfide http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/DOID_962 neurofibroma http://purl.obolibrary.org/obo/DOID_3193 peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/MIM_612231 susceptibility to colorectal cancer 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33424 sulfur oxoacid derivative http://purl.obolibrary.org/obo/CHEBI_33241 oxoacid derivative http://purl.obolibrary.org/obo/DOID_3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/MIM_612232 susceptibility to colorectal cancer 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_25985 phenylalanine derivative http://purl.obolibrary.org/obo/CHEBI_83821 amino-acid derivative http://purl.obolibrary.org/obo/DOID_13005 intra-abdominal lymph node mast cell malignancy http://purl.obolibrary.org/obo/DOID_10619 lymph node cancer http://purl.obolibrary.org/obo/MIM_612238 susceptibility to isolated scoliosis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33363 palladium http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/DOID_369 olfactory neuroblastoma http://purl.obolibrary.org/obo/DOID_370 malignant olfactory nerve neoplasm http://purl.obolibrary.org/obo/MIM_612239 susceptibility to isolated scoliosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612251 susceptibility to systemic lupus erythematosus 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_3614 chlorhexidine http://purl.obolibrary.org/obo/CHEBI_83403 monochlorobenzenes http://purl.obolibrary.org/obo/DOID_4556 lung large cell carcinoma http://purl.obolibrary.org/obo/DOID_3908 lung non-small cell carcinoma http://purl.obolibrary.org/obo/MIM_612253 susceptibility to systemic lupus erythematosus 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33350 chromium group element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/DOID_1737 duodenal benign neoplasm http://purl.obolibrary.org/obo/DOID_7505 small intestine benign neoplasm http://purl.obolibrary.org/obo/MIM_612269 susceptibility to childhood absence epilepsy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/DOID_3558 duodenal obstruction http://purl.obolibrary.org/obo/DOID_4072 duodenum disease http://purl.obolibrary.org/obo/MIM_612357 major affective disorder 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33362 nickel group element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/DOID_4455 hereditary renal cell carcinoma http://purl.obolibrary.org/obo/DOID_4450 renal cell carcinoma http://purl.obolibrary.org/obo/MIM_612371 major affective disorder 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/DOID_4692 endophthalmitis http://purl.obolibrary.org/obo/MIM_612372 major affective disorder 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/DOID_483 cavernous hemangioma http://purl.obolibrary.org/obo/DOID_484 vascular hemostatic disease http://purl.obolibrary.org/obo/MIM_612387 susceptibility to sarcoidosis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/DOID_582 hemoglobinuria http://purl.obolibrary.org/obo/DOID_576 proteinuria http://purl.obolibrary.org/obo/MIM_612388 susceptibility to sarcoidosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33597 homocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/DOID_5844 myocardial infarction http://purl.obolibrary.org/obo/MIM_612400 osteoarthritis susceptibility 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/DOID_3951 acute myocarditis http://purl.obolibrary.org/obo/DOID_820 myocarditis http://purl.obolibrary.org/obo/MIM_612401 osteoarthritis susceptibility 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_33661 monocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/DOID_8858 tonsil cancer http://purl.obolibrary.org/obo/DOID_0060073 lymphatic system cancer http://purl.obolibrary.org/obo/MIM_612551 susceptibility to focal segmental glomerulosclerosis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_36688 heterotricyclic compound http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/DOID_9401 epididymo-orchitis http://purl.obolibrary.org/obo/DOID_9402 epididymitis http://purl.obolibrary.org/obo/MIM_612555 susceptibility to familial breast-ovarian cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_37175 organic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/HP_0004322 Short stature http://purl.obolibrary.org/obo/HP_0001510 Growth delay http://purl.obolibrary.org/obo/MIM_612589 susceptibility to colorectal cancer 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_51403 1,4-phenylenediamine http://purl.obolibrary.org/obo/CHEBI_51402 phenylenediamine http://purl.obolibrary.org/obo/HP_0045058 Abnormality of the testis size http://purl.obolibrary.org/obo/HP_0000035 Abnormal testis morphology http://purl.obolibrary.org/obo/MIM_612590 susceptibility to colorectal cancer 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_53555 toluene meta-diisocyanate http://purl.obolibrary.org/obo/CHEBI_53213 diisocyanate http://purl.obolibrary.org/obo/HP_0100600 Penoscrotal transposition http://purl.obolibrary.org/obo/HP_0000045 Abnormal scrotum morphology http://purl.obolibrary.org/obo/MIM_612591 susceptibility to colorectal cancer 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/CHEBI_53578 hexamethylene diisocyanate http://purl.obolibrary.org/obo/CHEBI_53213 diisocyanate http://purl.obolibrary.org/obo/HP_0030263 Torsion of the penis http://purl.obolibrary.org/obo/HP_0000036 Abnormal penis morphology http://purl.obolibrary.org/obo/MIM_612592 susceptibility to colorectal cancer 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0011001 Increased bone mineral density http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/HP_0030264 Webbed penis http://purl.obolibrary.org/obo/HP_0000036 Abnormal penis morphology http://purl.obolibrary.org/obo/HP_0032076 Abnormal male urethral meatus morphology http://purl.obolibrary.org/obo/HP_0000036 Abnormal penis morphology http://purl.obolibrary.org/obo/MIM_612853 susceptibility to restless legs syndrome 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0005339 Abnormality of complement system http://purl.obolibrary.org/obo/HP_0005368 Abnormality of humoral immunity http://purl.obolibrary.org/obo/HP_0008734 Decreased testicular size http://purl.obolibrary.org/obo/HP_0010468 Aplasia/Hypoplasia of the testes http://purl.obolibrary.org/obo/MIM_612922 susceptibility to atypical hemolytic uremic syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0009815 Aplasia/hypoplasia of the extremities http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0040252 Abnormal size of the clitoris http://purl.obolibrary.org/obo/HP_0000056 Abnormal clitoris morphology http://purl.obolibrary.org/obo/MIM_612923 susceptibility to atypical hemolytic uremic syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0010884 Acromelia http://purl.obolibrary.org/obo/HP_0009815 Aplasia/hypoplasia of the extremities http://purl.obolibrary.org/obo/HP_0025633 Abnormal ureter morphology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter http://purl.obolibrary.org/obo/MIM_612924 susceptibility to atypical hemolytic uremic syndrome 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0010957 Congenital posterior urethral valve http://purl.obolibrary.org/obo/HP_0034378 Urethrovesical occlusion http://purl.obolibrary.org/obo/HP_0025634 Abnormal ureter physiology http://purl.obolibrary.org/obo/HP_0000069 Abnormality of the ureter http://purl.obolibrary.org/obo/MIM_612925 susceptibility to atypical hemolytic uremic syndrome 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0000272 Malar flattening http://purl.obolibrary.org/obo/HP_0010668 Abnormal zygomatic bone morphology http://purl.obolibrary.org/obo/HP_0012874 Abnormal male reproductive system physiology http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/MIM_612926 susceptibility to atypical hemolytic uremic syndrome 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0004313 Decreased circulating immunoglobulin concentration http://purl.obolibrary.org/obo/HP_0010701 Abnormal circulating immunoglobulin concentration http://purl.obolibrary.org/obo/HP_0033337 Abnormal gametogenesis http://purl.obolibrary.org/obo/HP_0000080 Abnormality of reproductive system physiology http://purl.obolibrary.org/obo/MIM_613003 susceptibility to attention deficit-hyperactivity disorder 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0011129 Bilateral fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0004736 Crossed fused renal ectopia http://purl.obolibrary.org/obo/HP_0000086 Ectopic kidney http://purl.obolibrary.org/obo/MIM_613013 susceptibility to neuroblastoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0100034 Motor tics http://purl.obolibrary.org/obo/HP_0100033 Tics http://purl.obolibrary.org/obo/HP_0001548 Overgrowth http://purl.obolibrary.org/obo/HP_0000098 Tall stature http://purl.obolibrary.org/obo/MIM_613014 susceptibility to neuroblastoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0100035 Phonic tics http://purl.obolibrary.org/obo/HP_4000074 Involuntary vocalization http://purl.obolibrary.org/obo/HP_0100877 Renal diverticulum http://purl.obolibrary.org/obo/HP_0004742 Abnormal renal collecting system morphology http://purl.obolibrary.org/obo/MIM_613015 susceptibility to neuroblastoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_131567 cellular organisms http://purl.obolibrary.org/obo/NCBITaxon_1 ncbitaxon http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/MIM_613016 susceptibility to neuroblastoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_2787823 unclassified entries http://purl.obolibrary.org/obo/NCBITaxon_1 ncbitaxon http://purl.obolibrary.org/obo/HP_0001510 Growth delay http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/MIM_613024 susceptibility to follicular lymphoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613028 glioma susceptibility 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3655 Cucumis http://purl.obolibrary.org/obo/NCBITaxon_1003877 Benincaseae http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/MIM_613029 glioma susceptibility 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/HP_0025354 Abnormal cellular phenotype http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/MIM_613030 glioma susceptibility 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_10116 Rattus norvegicus http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/HP_0000118 Phenotypic abnormality http://purl.obolibrary.org/obo/HP_0031105 Abnormal uterus morphology http://purl.obolibrary.org/obo/HP_0000130 Abnormality of the uterus http://purl.obolibrary.org/obo/MIM_613031 glioma susceptibility 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_39030 Apodemus agrarius http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/HP_0031816 Abnormal oral morphology http://purl.obolibrary.org/obo/HP_0000153 Abnormality of the mouth http://purl.obolibrary.org/obo/MIM_613032 glioma susceptibility 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/HP_0006483 Abnormal number of teeth http://purl.obolibrary.org/obo/HP_0000164 Abnormality of the dentition http://purl.obolibrary.org/obo/MIM_613033 glioma susceptibility 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/NCBITaxon_10240 Poxviridae http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/NCBITaxon_10257 Parapoxvirus http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/MIM_613058 susceptibility to basal cell carcinoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0011077 Abnormality of molar http://purl.obolibrary.org/obo/HP_0000164 Abnormality of the dentition http://purl.obolibrary.org/obo/MIM_613059 susceptibility to basal cell carcinoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_10278 Molluscipoxvirus http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/MIM_613061 susceptibility to basal cell carcinoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0000271 Abnormality of the face http://purl.obolibrary.org/obo/HP_0000234 Abnormality of the head http://purl.obolibrary.org/obo/NCBITaxon_3431481 Orthopoxvirus cowpox http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/MIM_613062 susceptibility to basal cell carcinoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0040194 Increased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference http://purl.obolibrary.org/obo/HP_0000240 Abnormality of skull size http://purl.obolibrary.org/obo/HP_0000275 Narrow face http://purl.obolibrary.org/obo/HP_0000274 Small face http://purl.obolibrary.org/obo/HP_0000278 Retrognathia http://purl.obolibrary.org/obo/HP_0000277 Abnormal mandible morphology http://purl.obolibrary.org/obo/NCBITaxon_3431483 Orthopoxvirus monkeypox http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/MIM_613063 susceptibility to basal cell carcinoma 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0011220 Prominent forehead http://purl.obolibrary.org/obo/HP_0000290 Abnormal forehead morphology http://purl.obolibrary.org/obo/NCBITaxon_3431487 Orthopoxvirus variola http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/NCBITaxon_3431390 Parapoxvirus pseudocowpox http://purl.obolibrary.org/obo/NCBITaxon_10257 Parapoxvirus http://purl.obolibrary.org/obo/MIM_613067 susceptibility to acute lymphoblastic leukemia 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613099 susceptibility to cutaneous malignant melanoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0010668 Abnormal zygomatic bone morphology http://purl.obolibrary.org/obo/HP_0011821 Abnormal facial skeleton morphology http://purl.obolibrary.org/obo/NCBITaxon_3431389 Parapoxvirus orf http://purl.obolibrary.org/obo/NCBITaxon_10257 Parapoxvirus http://purl.obolibrary.org/obo/MIM_613223 susceptibility to leprosy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0011800 Midface retrusion http://purl.obolibrary.org/obo/HP_0000309 Abnormal midface morphology http://purl.obolibrary.org/obo/NCBITaxon_3430922 Molluscipoxvirus molluscum http://purl.obolibrary.org/obo/NCBITaxon_10278 Molluscipoxvirus http://purl.obolibrary.org/obo/NCBITaxon_10294 Simplexvirus http://purl.obolibrary.org/obo/NCBITaxon_10293 Alphaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_10319 Varicellovirus http://purl.obolibrary.org/obo/NCBITaxon_10293 Alphaherpesvirinae http://purl.obolibrary.org/obo/MIM_613347 susceptibility to pancreatic cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3050292 Simplexvirus humanalpha1 http://purl.obolibrary.org/obo/NCBITaxon_10294 Simplexvirus http://purl.obolibrary.org/obo/HP_0008609 Abnormal middle ear morphology http://purl.obolibrary.org/obo/HP_0000370 Abnormality of the middle ear http://purl.obolibrary.org/obo/MIM_613348 susceptibility to pancreatic cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3050293 Simplexvirus humanalpha2 http://purl.obolibrary.org/obo/NCBITaxon_10294 Simplexvirus http://purl.obolibrary.org/obo/NCBITaxon_3050294 Varicellovirus humanalpha3 http://purl.obolibrary.org/obo/NCBITaxon_10319 Varicellovirus http://purl.obolibrary.org/obo/HP_0011486 Abnormal corneal thickness http://purl.obolibrary.org/obo/HP_0000481 Abnormal cornea morphology http://purl.obolibrary.org/obo/HP_0012795 Abnormal optic disc morphology http://purl.obolibrary.org/obo/HP_0000587 Abnormal optic nerve morphology http://purl.obolibrary.org/obo/MIM_613399 susceptibility to familial breast-ovarian cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/NCBITaxon_10357 Betaherpesvirinae http://purl.obolibrary.org/obo/HP_0100033 Tics http://purl.obolibrary.org/obo/HP_0000722 Compulsive behaviors http://purl.obolibrary.org/obo/MIM_613410 susceptibility to autism 16 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_10358 Cytomegalovirus http://purl.obolibrary.org/obo/NCBITaxon_10357 Betaherpesvirinae http://purl.obolibrary.org/obo/HP_0006711 Aplasia/Hypoplasia involving bones of the thorax http://purl.obolibrary.org/obo/HP_0009122 Aplasia/hypoplasia affecting bones of the axial skeleton http://purl.obolibrary.org/obo/MIM_613436 susceptibility to autism 17 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_10375 Lymphocryptovirus http://purl.obolibrary.org/obo/NCBITaxon_10374 Gammaherpesvirinae http://purl.obolibrary.org/obo/MIM_613551 susceptibility to autoimmune disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0000768 Pectus carinatum http://purl.obolibrary.org/obo/HP_0000766 Abnormal sternum morphology http://purl.obolibrary.org/obo/NCBITaxon_10379 Rhadinovirus http://purl.obolibrary.org/obo/NCBITaxon_10374 Gammaherpesvirinae http://purl.obolibrary.org/obo/MIM_613643 susceptibility to autosomal dominant parkinson disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0031093 Abnormal breast morphology http://purl.obolibrary.org/obo/HP_0000769 Abnormality of the breast http://purl.obolibrary.org/obo/NCBITaxon_3050299 Lymphocryptovirus humangamma4 http://purl.obolibrary.org/obo/NCBITaxon_10375 Lymphocryptovirus http://purl.obolibrary.org/obo/MIM_613656 susceptibility to migraine with or without aura 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613711 susceptibility to hirschsprung disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0008706 Distal urethral duplication http://purl.obolibrary.org/obo/HP_0000795 Abnormality of the urethra http://purl.obolibrary.org/obo/NCBITaxon_3050300 Rhadinovirus humangamma8 http://purl.obolibrary.org/obo/NCBITaxon_10379 Rhadinovirus http://purl.obolibrary.org/obo/MIM_613712 susceptibility to hirschsprung disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613972 susceptibility to cutaneous malignant melanoma 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0010481 Urethral valve http://purl.obolibrary.org/obo/HP_0000796 Urethral obstruction http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/NCBITaxon_10404 Hepadnaviridae http://purl.obolibrary.org/obo/MIM_614079 susceptibility to aspergillosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0034378 Urethrovesical occlusion http://purl.obolibrary.org/obo/HP_0000796 Urethral obstruction http://purl.obolibrary.org/obo/NCBITaxon_3431302 Orthohepadnavirus hominoidei http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/MIM_614090 susceptibility to sick sinus syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0000777 Abnormal thymus morphology http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system http://purl.obolibrary.org/obo/NCBITaxon_10509 Mastadenovirus http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/MIM_614251 susceptibility to autosomal dominant parkinson disease 18 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0200000 Dysharmonic skeletal maturation http://purl.obolibrary.org/obo/HP_0000927 Abnormality of skeletal maturation http://purl.obolibrary.org/obo/NCBITaxon_3241406 Mastadenovirus blackbeardi http://purl.obolibrary.org/obo/NCBITaxon_10509 Mastadenovirus http://purl.obolibrary.org/obo/NCBITaxon_7158 Aedes http://purl.obolibrary.org/obo/NCBITaxon_1056966 Aedini http://purl.obolibrary.org/obo/NCBITaxon_190765 Ochlerotatus http://purl.obolibrary.org/obo/NCBITaxon_1056966 Aedini http://purl.obolibrary.org/obo/MIM_614291 susceptibility to familial breast-ovarian cancer 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0009116 Aplasia/Hypoplasia involving bones of the skull http://purl.obolibrary.org/obo/HP_0009122 Aplasia/hypoplasia affecting bones of the axial skeleton http://purl.obolibrary.org/obo/NCBITaxon_945 Ehrlichia chaffeensis http://purl.obolibrary.org/obo/NCBITaxon_106178 canis group http://purl.obolibrary.org/obo/MIM_614320 susceptibility to pancreatic cancer 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0031158 Widened atrophic scar http://purl.obolibrary.org/obo/HP_0001075 Atrophic scars http://purl.obolibrary.org/obo/NCBITaxon_951 Ehrlichia sennetsu http://purl.obolibrary.org/obo/NCBITaxon_106178 canis group http://purl.obolibrary.org/obo/NCBITaxon_948 Anaplasma phagocytophilum http://purl.obolibrary.org/obo/NCBITaxon_106179 phagocytophilum group http://purl.obolibrary.org/obo/MIM_614371 susceptibility to dengue virus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0001197 Abnormality of prenatal development or birth http://purl.obolibrary.org/obo/NCBITaxon_40119 Parvovirinae http://purl.obolibrary.org/obo/NCBITaxon_10780 Parvoviridae http://purl.obolibrary.org/obo/MIM_614456 susceptibility to cutaneous malignant melanoma 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0002344 Progressive neurologic deterioration http://purl.obolibrary.org/obo/HP_0001268 Mental deterioration http://purl.obolibrary.org/obo/NCBITaxon_10519 Human adenovirus 7 http://purl.obolibrary.org/obo/NCBITaxon_108098 Human mastadenovirus B http://purl.obolibrary.org/obo/MIM_614466 susceptibility to coronary heart disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0033725 Thin corpus callosum http://purl.obolibrary.org/obo/HP_0001273 Abnormal corpus callosum morphology http://purl.obolibrary.org/obo/NCBITaxon_45659 Human adenovirus B3 http://purl.obolibrary.org/obo/NCBITaxon_108098 Human mastadenovirus B http://purl.obolibrary.org/obo/MIM_614680 susceptibility to severe influenza http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0001373 Joint dislocation http://purl.obolibrary.org/obo/HP_0001367 Abnormal joint morphology http://purl.obolibrary.org/obo/NCBITaxon_3428066 Coltivirus dermacentoris http://purl.obolibrary.org/obo/NCBITaxon_10911 Coltivirus http://purl.obolibrary.org/obo/MIM_614740 susceptibility to basal cell carcinoma 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/NCBITaxon_11018 Togaviridae http://purl.obolibrary.org/obo/HP_0005217 Abdominal organ duplication http://purl.obolibrary.org/obo/HP_0001438 Abnormal abdomen morphology http://purl.obolibrary.org/obo/MIM_614810 susceptibility to multiple sclerosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3426294 Alphavirus barmah http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/HP_0025276 Abnormality of skin adnexa physiology http://purl.obolibrary.org/obo/HP_0001574 Abnormality of the integument http://purl.obolibrary.org/obo/MIM_615083 susceptibility to colorectal cancer 12 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3426299 Alphavirus eastern http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system http://purl.obolibrary.org/obo/MIM_615091 susceptibility to autism 19 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3426314 Alphavirus rossriver http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/HP_0033796 Abnormal leukocyte physiology http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/MIM_615134 susceptibility to cutaneous malignant melanoma 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3426322 Alphavirus venezuelan http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/HP_0011875 Abnormal platelet morphology http://purl.obolibrary.org/obo/HP_0001872 Abnormality of thrombocytes http://purl.obolibrary.org/obo/MIM_615197 susceptibility to restless legs syndrome 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3426323 Alphavirus western http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/HP_0020064 Abnormal total eosinophil count http://purl.obolibrary.org/obo/HP_0032309 Abnormal granulocyte count http://purl.obolibrary.org/obo/MIM_615371 susceptibility to neonatal pulmonary hypertension http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3426312 Alphavirus onyong http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/HP_0001762 Talipes equinovarus http://purl.obolibrary.org/obo/HP_0001883 Talipes http://purl.obolibrary.org/obo/MIM_615529 susceptibility to craniosynostosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0032309 Abnormal granulocyte count http://purl.obolibrary.org/obo/HP_0011893 Abnormal leukocyte count http://purl.obolibrary.org/obo/NCBITaxon_3426298 Alphavirus chikungunya http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/MIM_615545 susceptibility to acute lymphoblastic leukemia 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0012337 Abnormal homeostasis http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/NCBITaxon_2846071 Rubivirus rubellae http://purl.obolibrary.org/obo/NCBITaxon_11040 Rubivirus http://purl.obolibrary.org/obo/MIM_615557 susceptibility to melioidosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/NCBITaxon_11102 Orthohepacivirus http://purl.obolibrary.org/obo/NCBITaxon_11050 Flaviviridae http://purl.obolibrary.org/obo/MIM_615848 obsolete susceptibility to cutaneous malignant melanoma 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0032243 Abnormal tissue metabolite concentration http://purl.obolibrary.org/obo/HP_0001939 Abnormality of metabolism/homeostasis http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_11050 Flaviviridae http://purl.obolibrary.org/obo/MIM_616106 pustular psoriasis susceptibility 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0006530 Abnormal pulmonary interstitial morphology http://purl.obolibrary.org/obo/HP_0002088 Abnormal lung morphology http://purl.obolibrary.org/obo/NCBITaxon_3052230 Orthohepacivirus hominis http://purl.obolibrary.org/obo/NCBITaxon_11102 Orthohepacivirus http://purl.obolibrary.org/obo/MIM_616818 susceptibility to IgA nephropathy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0000750 Delayed speech and language development http://purl.obolibrary.org/obo/HP_0012758 Neurodevelopmental delay http://purl.obolibrary.org/obo/NCBITaxon_2501931 Orthocoronavirinae http://purl.obolibrary.org/obo/NCBITaxon_11118 Coronaviridae http://purl.obolibrary.org/obo/MIM_616871 susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/HP_0030680 Abnormal cardiovascular system morphology http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/NCBITaxon_1113537 Chlamydia/Chlamydophila group http://purl.obolibrary.org/obo/MIM_617075 susceptibility to nasopharyngeal carcinoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0430000 Abnormal frontal bone morphology http://purl.obolibrary.org/obo/HP_0002683 Abnormal calvaria morphology http://purl.obolibrary.org/obo/NCBITaxon_6685 Penaeidae http://purl.obolibrary.org/obo/NCBITaxon_111520 Penaeoidea http://purl.obolibrary.org/obo/MIM_617349 susceptibility to familial thoracic aortic aneurysm 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0032251 Abnormal immune system morphology http://purl.obolibrary.org/obo/HP_0002715 Abnormality of the immune system http://purl.obolibrary.org/obo/NCBITaxon_13373 Burkholderia mallei http://purl.obolibrary.org/obo/NCBITaxon_111527 pseudomallei group http://purl.obolibrary.org/obo/MIM_617892 susceptibility to amyotrophic lateral sclerosis 24 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0005832 Dysharmonic delayed bone age http://purl.obolibrary.org/obo/HP_0200000 Dysharmonic skeletal maturation http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/MIM_617921 susceptibility to amyotrophic lateral sclerosis 25 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0040069 Abnormal lower limb bone morphology http://purl.obolibrary.org/obo/HP_0002814 Abnormality of the lower limb http://purl.obolibrary.org/obo/NCBITaxon_11244 Pneumoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/MIM_618231 susceptibility to epidermodysplasia verruciformis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0034669 Abnormal knee morphology http://purl.obolibrary.org/obo/HP_0002815 Abnormality of the knee http://purl.obolibrary.org/obo/NCBITaxon_11266 Filoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/MIM_618267 susceptibility to epidermodysplasia verruciformis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0002970 Genu varum http://purl.obolibrary.org/obo/HP_0034669 Abnormal knee morphology http://purl.obolibrary.org/obo/NCBITaxon_11270 Rhabdoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/MIM_618307 obsolete susceptibility to epidermodysplasia verruciformis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis http://purl.obolibrary.org/obo/NCBITaxon_178830 Bornaviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/MIM_618309 obsolete susceptibility to epidermodysplasia verruciformis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/HP_0003112 Abnormal circulating amino acid concentration http://purl.obolibrary.org/obo/NCBITaxon_2560076 Orthoparamyxovirinae http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/MIM_300464 susceptibility to coronary heart disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0007182 Peripheral hypomyelination http://purl.obolibrary.org/obo/HP_0003130 Abnormal peripheral myelination http://purl.obolibrary.org/obo/NCBITaxon_2560069 Avulavirinae http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/MIM_300509 susceptibility to dyslexia 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0002503 Spinocerebellar tract degeneration http://purl.obolibrary.org/obo/HP_0003133 Abnormal spinocerebellar tract morphology http://purl.obolibrary.org/obo/NCBITaxon_2560080 Rubulavirinae http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/MIM_600131 susceptibility to childhood absence epilepsy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0030059 Mitochondrial depletion http://purl.obolibrary.org/obo/HP_0003287 Abnormality of mitochondrial metabolism http://purl.obolibrary.org/obo/NCBITaxon_3052345 Morbillivirus hominis http://purl.obolibrary.org/obo/NCBITaxon_11229 Morbillivirus http://purl.obolibrary.org/obo/MIM_600156 susceptibility to hirschsprung disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0000926 Platyspondyly http://purl.obolibrary.org/obo/HP_0003312 Abnormal vertebral body morphology http://purl.obolibrary.org/obo/NCBITaxon_1868215 Orthopneumovirus http://purl.obolibrary.org/obo/NCBITaxon_11244 Pneumoviridae http://purl.obolibrary.org/obo/MIM_600202 susceptibility to dyslexia 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0004566 Pear-shaped vertebrae http://purl.obolibrary.org/obo/HP_0003312 Abnormal vertebral body morphology http://purl.obolibrary.org/obo/NCBITaxon_3044781 Orthoebolavirus http://purl.obolibrary.org/obo/NCBITaxon_11266 Filoviridae http://purl.obolibrary.org/obo/MIM_602477 susceptibility to idiopathic generalized epilepsy 17 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0002812 Coxa vara http://purl.obolibrary.org/obo/HP_0003367 Abnormal femoral neck morphology http://purl.obolibrary.org/obo/NCBITaxon_3044783 Orthomarburgvirus http://purl.obolibrary.org/obo/NCBITaxon_11266 Filoviridae http://purl.obolibrary.org/obo/MIM_603918 susceptibility to essential hypertension 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0003521 Disproportionate short-trunk short stature http://purl.obolibrary.org/obo/HP_0009121 Abnormal axial skeleton morphology http://purl.obolibrary.org/obo/NCBITaxon_2842407 Alpharhabdovirinae http://purl.obolibrary.org/obo/NCBITaxon_11270 Rhabdoviridae http://purl.obolibrary.org/obo/MIM_604254 susceptibility to dyslexia 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/HP_0008873 Disproportionate short-limb short stature http://purl.obolibrary.org/obo/HP_0003498 Disproportionate short stature http://purl.obolibrary.org/obo/NCBITaxon_11292 Lyssavirus rabies http://purl.obolibrary.org/obo/NCBITaxon_11286 Lyssavirus http://purl.obolibrary.org/obo/NCBITaxon_34104 Streptobacillus http://purl.obolibrary.org/obo/NCBITaxon_1129771 Leptotrichiaceae http://purl.obolibrary.org/obo/MIM_604329 susceptibility to essential hypertension 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_35788 Rickettsia africae http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0003510 Severe short stature http://purl.obolibrary.org/obo/HP_0003508 Proportionate short stature http://purl.obolibrary.org/obo/MIM_604827 susceptibility to idiopathic generalized epilepsy 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_35789 Rickettsia helvetica http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0100699 Scarring http://purl.obolibrary.org/obo/HP_0003549 Abnormality of connective tissue http://purl.obolibrary.org/obo/MIM_606616 susceptibility to dyslexia 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_35790 Rickettsia japonica http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0001252 Hypotonia http://purl.obolibrary.org/obo/HP_0003808 Abnormal muscle tone http://purl.obolibrary.org/obo/MIM_606874 susceptibility to hirschsprung disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_35792 Rickettsia parkeri http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0001824 Weight loss http://purl.obolibrary.org/obo/HP_0004325 Decreased body weight http://purl.obolibrary.org/obo/MIM_606875 susceptibility to hirschsprung disease 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_37816 Rickettsia honei http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0032368 Acidemia http://purl.obolibrary.org/obo/HP_0004360 Abnormality of acid-base homeostasis http://purl.obolibrary.org/obo/MIM_606896 susceptibility to dyslexia 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_42862 Rickettsia felis http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0033405 Abnormal circulating organic amino compound concentration http://purl.obolibrary.org/obo/HP_0004364 Abnormal circulating nitrogen compound concentration http://purl.obolibrary.org/obo/MIM_606972 susceptibility to idiopathic generalized epilepsy 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_781 Rickettsia conorii http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0000774 Narrow chest http://purl.obolibrary.org/obo/HP_0005257 Thoracic hypoplasia http://purl.obolibrary.org/obo/MIM_607329 susceptibility to essential hypertension 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_783 Rickettsia rickettsii http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0010701 Abnormal circulating immunoglobulin concentration http://purl.obolibrary.org/obo/HP_0005368 Abnormality of humoral immunity http://purl.obolibrary.org/obo/MIM_607339 susceptibility to coronary heart disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_786 Rickettsia akari http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0001022 Albinism http://purl.obolibrary.org/obo/HP_0007513 Generalized hypopigmentation http://purl.obolibrary.org/obo/HP_0011070 Abnormal molar morphology http://purl.obolibrary.org/obo/HP_0011077 Abnormality of molar http://purl.obolibrary.org/obo/MIM_607628 susceptibility to idiopathic generalized epilepsy 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_787 Rickettsia australis http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0000972 Palmoplantar hyperkeratosis http://purl.obolibrary.org/obo/HP_0010765 Palmar hyperkeratosis http://purl.obolibrary.org/obo/MIM_607682 susceptibility to idiopathic generalized epilepsy 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_266068 Rickettsia sibirica subgroup http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0031038 Spermatogenesis maturation arrest http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis http://purl.obolibrary.org/obo/HP_0000347 Micrognathia http://purl.obolibrary.org/obo/HP_0009118 Aplasia/Hypoplasia of the mandible http://purl.obolibrary.org/obo/MIM_608035 susceptibility to cutaneous malignant melanoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_782 Rickettsia prowazekii http://purl.obolibrary.org/obo/NCBITaxon_114292 typhus group http://purl.obolibrary.org/obo/HP_0009122 Aplasia/hypoplasia affecting bones of the axial skeleton http://purl.obolibrary.org/obo/HP_0009115 Aplasia/hypoplasia involving the skeleton http://purl.obolibrary.org/obo/MIM_608316 susceptibility to coronary heart disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_785 Rickettsia typhi http://purl.obolibrary.org/obo/NCBITaxon_114292 typhus group http://purl.obolibrary.org/obo/HP_0002983 Micromelia http://purl.obolibrary.org/obo/HP_0009826 Limb undergrowth http://purl.obolibrary.org/obo/HP_0003027 Mesomelia http://purl.obolibrary.org/obo/HP_0009826 Limb undergrowth http://purl.obolibrary.org/obo/MIM_608318 susceptibility to coronary heart disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3052409 Orthobunyavirus lacrosseense http://purl.obolibrary.org/obo/NCBITaxon_11572 Orthobunyavirus http://purl.obolibrary.org/obo/HP_0003187 Breast hypoplasia http://purl.obolibrary.org/obo/HP_0010311 Aplasia/Hypoplasia of the breasts http://purl.obolibrary.org/obo/MIM_608462 susceptibility to hirschsprung disease 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3052429 Orthobunyavirus oropoucheense http://purl.obolibrary.org/obo/NCBITaxon_11572 Orthobunyavirus http://purl.obolibrary.org/obo/HP_0003307 Hyperlordosis http://purl.obolibrary.org/obo/HP_0010674 Abnormal curvature of the vertebral column http://purl.obolibrary.org/obo/MIM_608742 susceptibility to essential hypertension 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3052676 Phlebovirus riftense http://purl.obolibrary.org/obo/NCBITaxon_11584 Phlebovirus http://purl.obolibrary.org/obo/HP_0003231 Hypertyrosinemia http://purl.obolibrary.org/obo/HP_0010917 Abnormal circulating tyrosine concentration http://purl.obolibrary.org/obo/HP_0005368 Abnormality of humoral immunity http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/MIM_608762 susceptibility to idiopathic generalized epilepsy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/NCBITaxon_11617 Arenaviridae http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/MIM_608995 susceptibility to dyslexia 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/HP_0010978 Abnormality of immune system physiology http://purl.obolibrary.org/obo/MIM_609750 susceptibility to idiopathic generalized epilepsy 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3418650 Lentivirus humimdef1 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/HP_0030976 Abnormal factor VIII activity http://purl.obolibrary.org/obo/HP_0010989 Abnormality of the intrinsic pathway http://purl.obolibrary.org/obo/MIM_610261 susceptibility to essential hypertension 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610262 susceptibility to essential hypertension 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3418651 Lentivirus humimdef2 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/HP_0040145 Dicarboxylic acidemia http://purl.obolibrary.org/obo/HP_0032368 Acidemia http://purl.obolibrary.org/obo/MIM_610948 susceptibility to essential hypertension 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_116706 Heterotremata http://purl.obolibrary.org/obo/NCBITaxon_116704 Eubrachyura http://purl.obolibrary.org/obo/HP_0020347 Abnormal circulating monosaccharide concentration http://purl.obolibrary.org/obo/HP_0011013 Abnormal circulating carbohydrate concentration http://purl.obolibrary.org/obo/MIM_611014 susceptibility to essential hypertension 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6774 Portunoidea http://purl.obolibrary.org/obo/NCBITaxon_116706 Heterotremata http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/MIM_611136 susceptibility to idiopathic generalized epilepsy 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/HP_0011028 Abnormality of blood circulation http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/HP_0030956 Abnormality of cardiovascular system electrophysiology http://purl.obolibrary.org/obo/HP_0011025 Abnormal cardiovascular system physiology http://purl.obolibrary.org/obo/HP_0001789 Hydrops fetalis http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/MIM_611139 susceptibility to coronary heart disease 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/HP_0031263 Abnormal renal corpuscle morphology http://purl.obolibrary.org/obo/HP_0012575 Abnormal nephron morphology http://purl.obolibrary.org/obo/MIM_611644 susceptibility to hirschsprung disease 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_2826938 Brucella/Ochrobactrum group http://purl.obolibrary.org/obo/NCBITaxon_118882 Brucellaceae http://purl.obolibrary.org/obo/HP_0001000 Abnormal skin pigmentation http://purl.obolibrary.org/obo/HP_0011121 Abnormal skin morphology http://purl.obolibrary.org/obo/MIM_611934 susceptibility to idiopathic generalized epilepsy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_776 Coxiella http://purl.obolibrary.org/obo/NCBITaxon_118968 Coxiellaceae http://purl.obolibrary.org/obo/HP_0032162 Unusual skin infection http://purl.obolibrary.org/obo/HP_0032158 Unusual infection by anatomical site http://purl.obolibrary.org/obo/HP_0040211 Abnormal skin morphology of the palm http://purl.obolibrary.org/obo/HP_0100871 Abnormal palm morphology http://purl.obolibrary.org/obo/MIM_612030 susceptibility to coronary heart disease 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_118968 Coxiellaceae http://purl.obolibrary.org/obo/NCBITaxon_118969 Legionellales http://purl.obolibrary.org/obo/HP_0008070 Sparse hair http://purl.obolibrary.org/obo/HP_0011362 Abnormal hair quantity http://purl.obolibrary.org/obo/MIM_612263 susceptibility to cutaneous malignant melanoma 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_444 Legionellaceae http://purl.obolibrary.org/obo/NCBITaxon_118969 Legionellales http://purl.obolibrary.org/obo/HP_0000962 Hyperkeratosis http://purl.obolibrary.org/obo/HP_0011368 Epidermal thickening http://purl.obolibrary.org/obo/MIM_612899 susceptibility to idiopathic generalized epilepsy 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_32008 Burkholderia http://purl.obolibrary.org/obo/NCBITaxon_119060 Burkholderiaceae http://purl.obolibrary.org/obo/HP_0007431 Congenital ichthyosiform erythroderma http://purl.obolibrary.org/obo/HP_0011368 Epidermal thickening http://purl.obolibrary.org/obo/MIM_613060 susceptibility to idiopathic generalized epilepsy 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1457286 Dorylaimia http://purl.obolibrary.org/obo/NCBITaxon_119088 Enoplea http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/MIM_614847 susceptibility to idiopathic generalized epilepsy 12 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6236 Rhabditida http://purl.obolibrary.org/obo/NCBITaxon_119089 Chromadorea http://purl.obolibrary.org/obo/HP_4000074 Involuntary vocalization http://purl.obolibrary.org/obo/HP_0011442 Abnormal central motor function http://purl.obolibrary.org/obo/MIM_616685 susceptibility to idiopathic generalized epilepsy 14 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_36086 Trichuris http://purl.obolibrary.org/obo/NCBITaxon_119093 Trichuridae http://purl.obolibrary.org/obo/HP_5200241 Recurrent maladaptive behavior http://purl.obolibrary.org/obo/HP_0011446 Abnormality of mental function http://purl.obolibrary.org/obo/MIM_618357 susceptibility to idiopathic generalized epilepsy 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_7162 Ochlerotatus triseriatus http://purl.obolibrary.org/obo/NCBITaxon_119225 Protomacleaya http://purl.obolibrary.org/obo/HP_0025766 Abnormal affect http://purl.obolibrary.org/obo/HP_0011446 Abnormality of mental function http://purl.obolibrary.org/obo/MIM_618596 susceptibility to idiopathic generalized epilepsy 16 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_90010 unclassified Enterovirus http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/HP_0025792 Abnormal cognitive process http://purl.obolibrary.org/obo/HP_0011446 Abnormality of mental function http://purl.obolibrary.org/obo/MIM_619521 susceptibility to idiopathic generalized epilepsy 18 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3428500 Enterovirus alphacoxsackie http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/HP_0003202 Skeletal muscle atrophy http://purl.obolibrary.org/obo/HP_0011805 Abnormal skeletal muscle morphology http://purl.obolibrary.org/obo/MIM_620442 susceptibility to familial breast-ovarian cancer 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3428502 Enterovirus betacoxsackie http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/HP_0030791 Abnormal jaw morphology http://purl.obolibrary.org/obo/HP_0011821 Abnormal facial skeleton morphology http://purl.obolibrary.org/obo/MIM_621064 susceptibility to idiopathic generalized epilepsy 19 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3428505 Enterovirus coxsackiepol http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/HP_0009115 Aplasia/hypoplasia involving the skeleton http://purl.obolibrary.org/obo/HP_0011842 Abnormal skeletal morphology http://purl.obolibrary.org/obo/NCBITaxon_10255 Variola virus http://purl.obolibrary.org/obo/NCBITaxon_3431487 Orthopoxvirus variola http://purl.obolibrary.org/obo/NCBITaxon_3428506 Enterovirus deconjuncti http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/HP_0011849 Abnormal bone ossification http://purl.obolibrary.org/obo/NCBITaxon_108098 Human mastadenovirus B http://purl.obolibrary.org/obo/NCBITaxon_3241406 Mastadenovirus blackbeardi http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/HP_0004712 Renal malrotation http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology http://purl.obolibrary.org/obo/HP_0003125 Reduced factor VIII activity http://purl.obolibrary.org/obo/HP_0030976 Abnormal factor VIII activity http://purl.obolibrary.org/obo/NCBITaxon_88770 Panarthropoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/HP_0010944 Abnormal renal pelvis morphology http://purl.obolibrary.org/obo/HP_0012210 Abnormal renal morphology http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_6447 Mollusca http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/HP_0000083 Renal insufficiency http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology http://purl.obolibrary.org/obo/NCBITaxon_10404 Hepadnaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732515 Blubervirales http://purl.obolibrary.org/obo/NCBITaxon_2750822 unclassified Mycobacterium avium complex (MAC) http://purl.obolibrary.org/obo/NCBITaxon_120793 Mycobacterium avium complex (MAC) http://purl.obolibrary.org/obo/HP_0012212 Abnormal glomerular filtration rate http://purl.obolibrary.org/obo/HP_0012211 Abnormal renal physiology http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_3429217 Hepatovirus fejalco http://purl.obolibrary.org/obo/NCBITaxon_12091 Hepatovirus http://purl.obolibrary.org/obo/HP_0011282 Abnormal hindbrain morphology http://purl.obolibrary.org/obo/HP_0012443 Abnormal brain morphology http://purl.obolibrary.org/obo/NCBITaxon_2732515 Blubervirales http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_121222 Pediculus http://purl.obolibrary.org/obo/NCBITaxon_121221 Pediculidae http://purl.obolibrary.org/obo/HP_0033259 Non-motor seizure http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology http://purl.obolibrary.org/obo/NCBITaxon_2743711 Danioninae http://purl.obolibrary.org/obo/NCBITaxon_2743709 Danionidae http://purl.obolibrary.org/obo/NCBITaxon_121225 Pediculus humanus http://purl.obolibrary.org/obo/NCBITaxon_121222 Pediculus http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/HP_0012638 Abnormal nervous system physiology http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/NCBITaxon_121752 Lacazia loboi http://purl.obolibrary.org/obo/NCBITaxon_121739 Lacazia http://purl.obolibrary.org/obo/HP_0012641 Decreased intracranial pressure http://purl.obolibrary.org/obo/HP_0012640 Abnormality of intracranial pressure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/HP_0030895 Abnormal gastrointestinal motility http://purl.obolibrary.org/obo/HP_0012719 Functional abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/NCBITaxon_28211 Alphaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/HP_0012435 Ventral shortening of foreskin http://purl.obolibrary.org/obo/HP_0100587 Abnormal preputium morphology http://purl.obolibrary.org/obo/SO_0002315 increased_gene_product_level http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/NCBITaxon_28216 Betaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/HP_0100765 Abnormality of the tonsils http://purl.obolibrary.org/obo/HP_0100763 Abnormality of the lymphatic system http://purl.obolibrary.org/obo/SO_0002316 decreased_gene_product_level http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/NCBITaxon_123366 Eurypterygia http://purl.obolibrary.org/obo/NCBITaxon_123365 Neoteleostei http://purl.obolibrary.org/obo/NCBITaxon_2842242 Ribozyviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCBITaxon_2731341 Duplodnaviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCBITaxon_10240 Poxviridae http://purl.obolibrary.org/obo/NCBITaxon_2732527 Chitovirales http://purl.obolibrary.org/obo/NCBITaxon_123367 Ctenosquamata http://purl.obolibrary.org/obo/NCBITaxon_123366 Eurypterygia http://purl.obolibrary.org/obo/NCBITaxon_2731342 Floreoviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCBITaxon_10780 Parvoviridae http://purl.obolibrary.org/obo/NCBITaxon_2732534 Piccovirales http://purl.obolibrary.org/obo/NCBITaxon_123368 Acanthomorphata http://purl.obolibrary.org/obo/NCBITaxon_123367 Ctenosquamata http://purl.obolibrary.org/obo/NCBITaxon_2732004 Varidnaviria http://purl.obolibrary.org/obo/NCBITaxon_10239 Viruses http://purl.obolibrary.org/obo/NCBITaxon_37727 Talaromyces marneffei http://purl.obolibrary.org/obo/NCBITaxon_2752537 Talaromyces sect. Talaromyces http://purl.obolibrary.org/obo/NCBITaxon_1489838 Paracanthopterygii http://purl.obolibrary.org/obo/NCBITaxon_123368 Acanthomorphata http://purl.obolibrary.org/obo/NCBITaxon_118969 Legionellales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2955291 Alphainfluenzavirus influenzae http://purl.obolibrary.org/obo/NCBITaxon_197911 Alphainfluenzavirus http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_135625 Pasteurellales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2955935 Gammainfluenzavirus influenzae http://purl.obolibrary.org/obo/NCBITaxon_197913 Gammainfluenzavirus http://purl.obolibrary.org/obo/NCBITaxon_72273 Thiotrichales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2732405 Duplornaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_6032 Apansporoblastina http://purl.obolibrary.org/obo/NCBITaxon_6029 Microsporidia http://purl.obolibrary.org/obo/NCBITaxon_91347 Enterobacterales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_44534 Cellia http://purl.obolibrary.org/obo/NCBITaxon_7164 Anopheles http://purl.obolibrary.org/obo/NCBITaxon_135623 Vibrionales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_2732408 Pisuviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/UBERON_0002133 atrioventricular valve http://purl.obolibrary.org/obo/UBERON_0000946 cardiac valve http://purl.obolibrary.org/obo/NCBITaxon_186801 Clostridia http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/NCBITaxon_11018 Togaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732544 Martellivirales http://purl.obolibrary.org/obo/UBERON_0005623 semi-lunar valve http://purl.obolibrary.org/obo/UBERON_0000946 cardiac valve http://purl.obolibrary.org/obo/NCBITaxon_526524 Erysipelotrichia http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/UBERON_0000992 ovary http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ http://purl.obolibrary.org/obo/NCBITaxon_91061 Bacilli http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/UBERON_0001702 eyelash http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair http://purl.obolibrary.org/obo/NCBITaxon_11050 Flaviviridae http://purl.obolibrary.org/obo/NCBITaxon_2732545 Amarillovirales http://purl.obolibrary.org/obo/NCBITaxon_7205 Tabanidae http://purl.obolibrary.org/obo/NCBITaxon_1262365 Tabanoidea http://purl.obolibrary.org/obo/UBERON_0016446 hair of head http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair http://purl.obolibrary.org/obo/NCBITaxon_7961 Cyprinus http://purl.obolibrary.org/obo/NCBITaxon_2743694 Cyprininae http://purl.obolibrary.org/obo/NCBITaxon_1280 Staphylococcus aureus http://purl.obolibrary.org/obo/NCBITaxon_1279 Staphylococcus http://purl.obolibrary.org/obo/UBERON_0001361 femoral vein http://purl.obolibrary.org/obo/UBERON_0003516 hindlimb blood vessel http://purl.obolibrary.org/obo/NCBITaxon_3079366 Hepeviridae http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/NCBITaxon_5796 Coccidia http://purl.obolibrary.org/obo/NCBITaxon_1280412 Conoidasida http://purl.obolibrary.org/obo/UBERON_0005610 iliac vein http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/NCBITaxon_2560066 Matonaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/NCBITaxon_1647 Erysipelothrix http://purl.obolibrary.org/obo/NCBITaxon_128827 Erysipelotrichaceae http://purl.obolibrary.org/obo/UBERON_0002017 portal vein http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/NCBITaxon_12908 unclassified sequences http://purl.obolibrary.org/obo/NCBITaxon_2787823 unclassified entries http://purl.obolibrary.org/obo/NCBITaxon_7511 Pulicidae http://purl.obolibrary.org/obo/NCBITaxon_129369 Pulicoidea http://purl.obolibrary.org/obo/UBERON_0003479 thoracic cavity vein http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732532 Sepolyvirales http://purl.obolibrary.org/obo/NCBITaxon_1301 Streptococcus http://purl.obolibrary.org/obo/NCBITaxon_1300 Streptococcaceae http://purl.obolibrary.org/obo/UBERON_0009141 craniocervical region vein http://purl.obolibrary.org/obo/UBERON_0013140 systemic vein http://purl.obolibrary.org/obo/NCBITaxon_151340 Papillomaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732533 Zurhausenvirales http://purl.obolibrary.org/obo/NCBITaxon_1314 Streptococcus pyogenes http://purl.obolibrary.org/obo/NCBITaxon_1301 Streptococcus http://purl.obolibrary.org/obo/UBERON_0013140 systemic vein http://purl.obolibrary.org/obo/UBERON_0001638 vein http://purl.obolibrary.org/obo/NCBITaxon_7954 Danio http://purl.obolibrary.org/obo/NCBITaxon_2743711 Danioninae http://purl.obolibrary.org/obo/NCBITaxon_1313 Streptococcus pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_1301 Streptococcus http://purl.obolibrary.org/obo/UBERON_0001644 trochlear nerve http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/NCBITaxon_2731360 Heunggongvirae http://purl.obolibrary.org/obo/NCBITaxon_2731341 Duplodnaviria http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/UBERON_0001646 abducens nerve http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/NCBITaxon_2732092 Shotokuvirae http://purl.obolibrary.org/obo/NCBITaxon_2731342 Floreoviria http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/NCBITaxon_131567 cellular organisms http://purl.obolibrary.org/obo/UBERON_0001648 vestibulocochlear nerve http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/NCBITaxon_2731361 Peploviricota http://purl.obolibrary.org/obo/NCBITaxon_2731360 Heunggongvirae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/NCBITaxon_131567 cellular organisms http://purl.obolibrary.org/obo/UBERON_0001650 hypoglossal nerve http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve http://purl.obolibrary.org/obo/NCBITaxon_2731363 Herviviricetes http://purl.obolibrary.org/obo/NCBITaxon_2731361 Peploviricota http://purl.obolibrary.org/obo/NCBITaxon_44556 Phlebotomus http://purl.obolibrary.org/obo/NCBITaxon_13203 Phlebotomus http://purl.obolibrary.org/obo/UBERON_0001759 vagus nerve http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/NCBITaxon_548681 Herpesvirales http://purl.obolibrary.org/obo/NCBITaxon_2731363 Herviviricetes http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/UBERON_0001134 skeletal muscle tissue http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/NCBITaxon_2732004 Varidnaviria http://purl.obolibrary.org/obo/NCBITaxon_63673 Turbo cornutus http://purl.obolibrary.org/obo/NCBITaxon_133423 Batillus http://purl.obolibrary.org/obo/UBERON_0002036 striated muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue http://purl.obolibrary.org/obo/NCBITaxon_2732007 Nucleocytoviricota http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue http://purl.obolibrary.org/obo/NCBITaxon_2732008 Preplasmiviricota http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/NCBITaxon_29960 Penaeus indicus http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/UBERON_0000976 humerus http://purl.obolibrary.org/obo/UBERON_0015053 humerus endochondral element http://purl.obolibrary.org/obo/NCBITaxon_2732525 Pokkesviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732007 Nucleocytoviricota http://purl.obolibrary.org/obo/NCBITaxon_6687 Penaeus monodon http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/UBERON_0000979 tibia http://purl.obolibrary.org/obo/UBERON_0015004 tibia endochondral element http://purl.obolibrary.org/obo/NCBITaxon_3412694 Polisuviricotina http://purl.obolibrary.org/obo/NCBITaxon_2732008 Preplasmiviricota http://purl.obolibrary.org/obo/NCBITaxon_6689 Penaeus vannamei http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732092 Shotokuvirae http://purl.obolibrary.org/obo/NCBITaxon_6690 Penaeus aztecus http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/UBERON_0003607 forelimb long bone http://purl.obolibrary.org/obo/UBERON_0008962 forelimb bone http://purl.obolibrary.org/obo/NCBITaxon_2732409 Artverviricota http://purl.obolibrary.org/obo/NCBITaxon_2732397 Pararnavirae http://purl.obolibrary.org/obo/NCBITaxon_147571 Piedraiaceae http://purl.obolibrary.org/obo/NCBITaxon_134362 Capnodiales http://purl.obolibrary.org/obo/UBERON_0003608 hindlimb long bone http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone http://purl.obolibrary.org/obo/NCBITaxon_2732459 Resentoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732405 Duplornaviricota http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/NCBITaxon_135625 Pasteurellales http://purl.obolibrary.org/obo/UBERON_0012177 skin apocrine gland http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/NCBITaxon_1643685 Borreliaceae http://purl.obolibrary.org/obo/NCBITaxon_136 Spirochaetales http://purl.obolibrary.org/obo/UBERON_0001255 urinary bladder http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/NCBITaxon_2732462 Flasuviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/NCBITaxon_2845253 Treponemataceae http://purl.obolibrary.org/obo/NCBITaxon_136 Spirochaetales http://purl.obolibrary.org/obo/UBERON_0002110 gallbladder http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732408 Pisuviricota http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732409 Artverviricota http://purl.obolibrary.org/obo/NCBITaxon_186817 Bacillaceae http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/SYMP_0000307 inibility to stand http://purl.obolibrary.org/obo/SYMP_0000329 motor weakness http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/NCBITaxon_186820 Listeriaceae http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/SYMP_0020010 blurred vision with haloes http://purl.obolibrary.org/obo/SYMP_0000012 blurred vision http://purl.obolibrary.org/obo/NCBITaxon_2732422 Quintoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/NCBITaxon_90964 Staphylococcaceae http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/SYMP_0020003 acholic stool http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom http://purl.obolibrary.org/obo/NCBITaxon_2732532 Sepolyvirales http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/NCBITaxon_86661 Bacillus cereus group http://purl.obolibrary.org/obo/NCBITaxon_1386 Bacillus http://purl.obolibrary.org/obo/SYMP_0000229 bloody stool http://purl.obolibrary.org/obo/SYMP_0000146 feces and droppings symptom http://purl.obolibrary.org/obo/NCBITaxon_2732533 Zurhausenvirales http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732534 Piccovirales http://purl.obolibrary.org/obo/NCBITaxon_2732422 Quintoviricetes http://purl.obolibrary.org/obo/NCBITaxon_31704 Coxsackievirus A16 http://purl.obolibrary.org/obo/NCBITaxon_138948 Enterovirus A http://purl.obolibrary.org/obo/SYMP_0000296 hepatic dysfunction http://purl.obolibrary.org/obo/SYMP_0000180 liver symptom http://purl.obolibrary.org/obo/NCBITaxon_2732541 Reovirales http://purl.obolibrary.org/obo/NCBITaxon_2732459 Resentoviricetes http://purl.obolibrary.org/obo/NCBITaxon_39054 Enterovirus A71 http://purl.obolibrary.org/obo/NCBITaxon_138948 Enterovirus A http://purl.obolibrary.org/obo/SYMP_0000350 parotid abscess http://purl.obolibrary.org/obo/SYMP_0000205 salivary gland symptom http://purl.obolibrary.org/obo/NCBITaxon_2732544 Martellivirales http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/NCBITaxon_12080 Poliovirus 1 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/SYMP_0000224 leg weakness http://purl.obolibrary.org/obo/SYMP_0000222 limb weakness http://purl.obolibrary.org/obo/SYMP_0000220 areflexia http://purl.obolibrary.org/obo/SYMP_0000249 reflex symptom http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/NCBITaxon_12083 Poliovirus 2 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/SYMP_0000256 diminished gag reflex http://purl.obolibrary.org/obo/SYMP_0000249 reflex symptom http://purl.obolibrary.org/obo/NCBITaxon_2732545 Amarillovirales http://purl.obolibrary.org/obo/NCBITaxon_2732462 Flasuviricetes http://purl.obolibrary.org/obo/NCBITaxon_12086 Poliovirus 3 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/SYMP_0000273 clonic seizure http://purl.obolibrary.org/obo/SYMP_0000267 generalized seizure http://purl.obolibrary.org/obo/NCBITaxon_464095 Picornavirales http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/NCBITaxon_12089 Coxsackievirus A24 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/SYMP_0000313 joint inflammation http://purl.obolibrary.org/obo/SYMP_0000312 joint symptom http://purl.obolibrary.org/obo/NCBITaxon_76804 Nidovirales http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/NCBITaxon_12090 enterovirus D70 http://purl.obolibrary.org/obo/NCBITaxon_138951 Enterovirus D http://purl.obolibrary.org/obo/SYMP_0000160 tracheobronchitis http://purl.obolibrary.org/obo/SYMP_0000385 throat symptom http://purl.obolibrary.org/obo/NCBITaxon_2732527 Chitovirales http://purl.obolibrary.org/obo/NCBITaxon_2732525 Pokkesviricetes http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/NCBITaxon_129369 Pulicoidea http://purl.obolibrary.org/obo/NCBITaxon_140693 Pulicomorpha http://purl.obolibrary.org/obo/SYMP_0019181 hoarseness http://purl.obolibrary.org/obo/SYMP_0000385 throat symptom http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/HP_0025745 Abnormal urine amino acid level http://purl.obolibrary.org/obo/NCBITaxon_314145 Laurasiatheria http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/SYMP_0020055 pharynx inflammation http://purl.obolibrary.org/obo/SYMP_0000385 throat symptom http://purl.obolibrary.org/obo/NCBITaxon_3052489 Orthohantavirus negraense http://purl.obolibrary.org/obo/NCBITaxon_3431295 Orthohantavirus mamorense http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/SYMP_0000554 left lower quadrant abdominal rigidity http://purl.obolibrary.org/obo/SYMP_0000454 abdominal rigidity http://purl.obolibrary.org/obo/SYMP_0000375 severe abdominal cramp http://purl.obolibrary.org/obo/SYMP_0000001 abdominal cramp http://purl.obolibrary.org/obo/NCBITaxon_4447 Liliopsida http://purl.obolibrary.org/obo/NCBITaxon_1437183 Mesangiospermae http://purl.obolibrary.org/obo/SYMP_0000471 multiple sites abdominal rigidity http://purl.obolibrary.org/obo/SYMP_0000454 abdominal rigidity http://purl.obolibrary.org/obo/SYMP_0020026 chronic inflammation http://purl.obolibrary.org/obo/SYMP_0000061 inflammation http://purl.obolibrary.org/obo/NCBITaxon_71240 eudicotyledons http://purl.obolibrary.org/obo/NCBITaxon_1437183 Mesangiospermae http://purl.obolibrary.org/obo/NCBITaxon_4734 commelinids http://purl.obolibrary.org/obo/NCBITaxon_1437197 Petrosaviidae http://purl.obolibrary.org/obo/NCBITaxon_71274 asterids http://purl.obolibrary.org/obo/NCBITaxon_1437201 Pentapetalae http://purl.obolibrary.org/obo/SYMP_0000562 right upper quadrant abdominal swelling http://purl.obolibrary.org/obo/SYMP_0000478 abdominal swelling http://purl.obolibrary.org/obo/SYMP_0000437 earache http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/NCBITaxon_71275 rosids http://purl.obolibrary.org/obo/NCBITaxon_1437201 Pentapetalae http://purl.obolibrary.org/obo/SYMP_0000496 epigastric abdominal tenderness http://purl.obolibrary.org/obo/SYMP_0000484 abdominal tenderness http://purl.obolibrary.org/obo/SYMP_0000591 left upper quadrant abdominal tenderness http://purl.obolibrary.org/obo/SYMP_0000484 abdominal tenderness http://purl.obolibrary.org/obo/SYMP_0000202 acute painful vision loss http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/NCBITaxon_1457286 Dorylaimia http://purl.obolibrary.org/obo/SYMP_0000230 body ache http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0019142 lymphadenopathy http://purl.obolibrary.org/obo/SYMP_0000521 enlargement of lymph nodes http://purl.obolibrary.org/obo/NCBITaxon_1648037 Poodae http://purl.obolibrary.org/obo/NCBITaxon_147368 Pooideae http://purl.obolibrary.org/obo/SYMP_0020023 bone pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000736 lymph gland swelling http://purl.obolibrary.org/obo/SYMP_0000716 swelling symptom http://purl.obolibrary.org/obo/NCBITaxon_1652081 Poeae Chloroplast Group 2 (Poeae type) http://purl.obolibrary.org/obo/NCBITaxon_147387 Poeae http://purl.obolibrary.org/obo/SYMP_0000291 gas pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000717 leg swelling http://purl.obolibrary.org/obo/SYMP_0000716 swelling symptom http://purl.obolibrary.org/obo/NCBITaxon_3239874 Pichiomycetes http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/SYMP_0000404 dyspareunia http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000786 generalized pelvic mass http://purl.obolibrary.org/obo/SYMP_0000772 pelvic mass http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/NCBITaxon_147538 Pezizomycotina http://purl.obolibrary.org/obo/SYMP_0000576 chest pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000784 epigastric pelvic mass http://purl.obolibrary.org/obo/SYMP_0000772 pelvic mass http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147541 Dothideomycetes http://purl.obolibrary.org/obo/SYMP_0000362 progressive prostration http://purl.obolibrary.org/obo/SYMP_0000116 prostration http://purl.obolibrary.org/obo/SYMP_0000129 severe conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000128 conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000776 epigastric pelvic lump http://purl.obolibrary.org/obo/SYMP_0000773 pelvic lump http://purl.obolibrary.org/obo/NCBITaxon_451868 Pleosporomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147541 Dothideomycetes http://purl.obolibrary.org/obo/SYMP_0000757 mild conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000128 conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000802 epigastric abdominal mass http://purl.obolibrary.org/obo/SYMP_0000798 abdominal mass http://purl.obolibrary.org/obo/NCBITaxon_451870 Chaetothyriomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147545 Eurotiomycetes http://purl.obolibrary.org/obo/SYMP_0000707 flaccid muscle tone http://purl.obolibrary.org/obo/SYMP_0000183 muscle symptom http://purl.obolibrary.org/obo/SYMP_0000809 periumbilic abdominal lump http://purl.obolibrary.org/obo/SYMP_0000799 abdominal lump http://purl.obolibrary.org/obo/NCBITaxon_451871 Eurotiomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147545 Eurotiomycetes http://purl.obolibrary.org/obo/SYMP_0000094 muscle weakness http://purl.obolibrary.org/obo/SYMP_0000183 muscle symptom http://purl.obolibrary.org/obo/SYMP_0000813 right upper quadrant abdominal lump http://purl.obolibrary.org/obo/SYMP_0000799 abdominal lump http://purl.obolibrary.org/obo/NCBITaxon_222543 Hypocreomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147550 Sordariomycetes http://purl.obolibrary.org/obo/SYMP_0000234 cloudy cornea http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0000158 spleen symptom http://purl.obolibrary.org/obo/SYMP_0019138 immune system symptom http://purl.obolibrary.org/obo/NCBITaxon_222544 Sordariomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147550 Sordariomycetes http://purl.obolibrary.org/obo/SYMP_0000240 corneal opacity http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0019141 lymphatic system symptom http://purl.obolibrary.org/obo/SYMP_0019138 immune system symptom http://purl.obolibrary.org/obo/NCBITaxon_37987 Pneumocystales http://purl.obolibrary.org/obo/NCBITaxon_147553 Pneumocystomycetes http://purl.obolibrary.org/obo/SYMP_0000241 corneal ulcers http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0000208 anemia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/NCBITaxon_1513 Clostridium tetani http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/SYMP_0000314 keratitis http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0000634 leukocytosis http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/NCBITaxon_3691983 Clostridium botulinum group http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/SYMP_0000282 fixed dilated pupils http://purl.obolibrary.org/obo/SYMP_0000254 dilated pupil http://purl.obolibrary.org/obo/SYMP_0019143 coagulopathy http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/NCBITaxon_186625 Clupeocephala http://purl.obolibrary.org/obo/NCBITaxon_1489341 Osteoglossocephalai http://purl.obolibrary.org/obo/SYMP_0000396 mydriasis http://purl.obolibrary.org/obo/SYMP_0000254 dilated pupil http://purl.obolibrary.org/obo/SYMP_0000691 cytopenia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/NCBITaxon_123365 Neoteleostei http://purl.obolibrary.org/obo/NCBITaxon_1489388 Euteleosteomorpha http://purl.obolibrary.org/obo/SYMP_0000339 occasional diplopia http://purl.obolibrary.org/obo/SYMP_0000258 double vision http://purl.obolibrary.org/obo/SYMP_0019148 septicemia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/NCBITaxon_41705 Protacanthopterygii http://purl.obolibrary.org/obo/NCBITaxon_1489388 Euteleosteomorpha http://purl.obolibrary.org/obo/SYMP_0020005 acquired color vision deficiency http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0019146 hyponatremia http://purl.obolibrary.org/obo/SYMP_0019139 hemic system symptom http://purl.obolibrary.org/obo/NCBITaxon_1489841 Zeiogadaria http://purl.obolibrary.org/obo/NCBITaxon_1489838 Paracanthopterygii http://purl.obolibrary.org/obo/SYMP_0020009 blind spot http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0000182 bubo http://purl.obolibrary.org/obo/SYMP_0019155 lymphadenitis http://purl.obolibrary.org/obo/NCBITaxon_1489843 Gadariae http://purl.obolibrary.org/obo/NCBITaxon_1489841 Zeiogadaria http://purl.obolibrary.org/obo/SYMP_0000008 blindness http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/HP_0032465 Bladder trabeculation http://purl.obolibrary.org/obo/HP_0025487 Abnormal bladder morphology http://purl.obolibrary.org/obo/NCBITaxon_8043 Gadiformes http://purl.obolibrary.org/obo/NCBITaxon_1489843 Gadariae http://purl.obolibrary.org/obo/SYMP_0000258 double vision http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/HP_0006561 Lipid accumulation in hepatocytes http://purl.obolibrary.org/obo/HP_0031137 Storage in hepatocytes http://purl.obolibrary.org/obo/NCBITaxon_8045 Gadidae http://purl.obolibrary.org/obo/NCBITaxon_1489845 Gadoidei http://purl.obolibrary.org/obo/SYMP_0000321 loss of vision http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0000628 vision distortion http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/NCBITaxon_15956 Phleum http://purl.obolibrary.org/obo/NCBITaxon_2948964 Phleinae http://purl.obolibrary.org/obo/NCBITaxon_36826 Clostridium botulinum A http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/SYMP_0000416 amaurosis http://purl.obolibrary.org/obo/SYMP_0000321 loss of vision http://purl.obolibrary.org/obo/NCBITaxon_1678143 Paslahepevirus balayani http://purl.obolibrary.org/obo/NCBITaxon_2948857 Paslahepevirus http://purl.obolibrary.org/obo/NCBITaxon_36827 Clostridium botulinum B http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/SYMP_0000325 mild bronchitis http://purl.obolibrary.org/obo/SYMP_0000324 bronchitis http://purl.obolibrary.org/obo/NCBITaxon_766764 Debaryomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_2916678 Serinales http://purl.obolibrary.org/obo/NCBITaxon_36830 Clostridium botulinum E http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/SYMP_0000109 mouth papules http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/NCBITaxon_6937 Ornithodoros http://purl.obolibrary.org/obo/NCBITaxon_2945031 Ornithodorinae http://purl.obolibrary.org/obo/NCBITaxon_36831 Clostridium botulinum F http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/SYMP_0000260 dry mouth http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/NCBITaxon_186541 Tai Forest ebolavirus http://purl.obolibrary.org/obo/NCBITaxon_3052461 Orthoebolavirus taiense http://purl.obolibrary.org/obo/NCBITaxon_333774 unclassified Papillomaviridae http://purl.obolibrary.org/obo/NCBITaxon_151340 Papillomaviridae http://purl.obolibrary.org/obo/SYMP_0000330 mouth sore http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/NCBITaxon_206160 Sandfly fever Naples virus http://purl.obolibrary.org/obo/NCBITaxon_3052666 Phlebovirus napoliense http://purl.obolibrary.org/obo/NCBITaxon_2169595 Firstpapillomavirinae http://purl.obolibrary.org/obo/NCBITaxon_151340 Papillomaviridae http://purl.obolibrary.org/obo/SYMP_0000342 slurred speech http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/NCBITaxon_2560602 Mumps orthorubulavirus http://purl.obolibrary.org/obo/NCBITaxon_3052560 Orthorubulavirus parotitidis http://purl.obolibrary.org/obo/NCBITaxon_693762 Schizaeales http://purl.obolibrary.org/obo/NCBITaxon_1521262 Polypodiidae http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/NCBITaxon_28292 sandfly fever Sicilian virus http://purl.obolibrary.org/obo/NCBITaxon_3052681 Phlebovirus siciliaense http://purl.obolibrary.org/obo/NCBITaxon_3428212 Deltaretrovirus priTlym1 http://purl.obolibrary.org/obo/NCBITaxon_153136 Deltaretrovirus http://purl.obolibrary.org/obo/SYMP_0000650 thick white exudate on tongue http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/CHEBI_47016 tetrahydrofuranone http://purl.obolibrary.org/obo/CHEBI_26912 oxolanes http://purl.obolibrary.org/obo/CHEBI_39410 1,2,4-triazines http://purl.obolibrary.org/obo/CHEBI_38102 triazines http://purl.obolibrary.org/obo/NCBITaxon_8976 Galliformes http://purl.obolibrary.org/obo/NCBITaxon_1549675 Galloanserae http://purl.obolibrary.org/obo/SYMP_0000655 mouth bleeding http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/CHEBI_45924 trimethoprim http://purl.obolibrary.org/obo/CHEBI_51683 methoxybenzenes http://purl.obolibrary.org/obo/NCBITaxon_1851469 Trichosporonales http://purl.obolibrary.org/obo/NCBITaxon_155616 Tremellomycetes http://purl.obolibrary.org/obo/SYMP_0000727 palate weakness http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/CHEBI_33860 aromatic amine http://purl.obolibrary.org/obo/CHEBI_33659 organic aromatic compound http://purl.obolibrary.org/obo/NCBITaxon_5579 Aureobasidium http://purl.obolibrary.org/obo/NCBITaxon_1570301 Saccotheciaceae http://purl.obolibrary.org/obo/SYMP_0000752 herpetic lesion on upper lip http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/CHEBI_50995 secondary amino compound http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound http://purl.obolibrary.org/obo/NCBITaxon_157541 Zygodontomys brevicauda http://purl.obolibrary.org/obo/NCBITaxon_157540 Zygodontomys http://purl.obolibrary.org/obo/SYMP_0000865 lesions in mouth http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/CHEBI_50996 tertiary amino compound http://purl.obolibrary.org/obo/CHEBI_50047 organic amino compound http://purl.obolibrary.org/obo/NCBITaxon_15957 Phleum pratense http://purl.obolibrary.org/obo/NCBITaxon_15956 Phleum http://purl.obolibrary.org/obo/SYMP_0000877 decreased tongue tone http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/CHEBI_35467 phosphorodiamide http://purl.obolibrary.org/obo/CHEBI_17102 phosphoramide http://purl.obolibrary.org/obo/NCBITaxon_163159 Xenopsylla cheopis http://purl.obolibrary.org/obo/NCBITaxon_163158 Xenopsylla http://purl.obolibrary.org/obo/SYMP_0000507 head swelling http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/CHEBI_36683 organochlorine compound http://purl.obolibrary.org/obo/CHEBI_23117 chlorine molecular entity http://purl.obolibrary.org/obo/NCBITaxon_5820 Plasmodium http://purl.obolibrary.org/obo/NCBITaxon_1639119 Plasmodiidae http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/CHEBI_133004 bisbenzylisoquinoline alkaloid http://purl.obolibrary.org/obo/CHEBI_22750 benzylisoquinoline alkaloid http://purl.obolibrary.org/obo/NCBITaxon_138 Borrelia http://purl.obolibrary.org/obo/NCBITaxon_1643685 Borreliaceae http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/CHEBI_16899 D-mannitol http://purl.obolibrary.org/obo/CHEBI_29864 mannitol http://purl.obolibrary.org/obo/NCBITaxon_64895 Borreliella http://purl.obolibrary.org/obo/NCBITaxon_1643685 Borreliaceae http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/CHEBI_35681 secondary alcohol http://purl.obolibrary.org/obo/CHEBI_30879 alcohol http://purl.obolibrary.org/obo/NCBITaxon_170 Leptospiraceae http://purl.obolibrary.org/obo/NCBITaxon_1643688 Leptospirales http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/CHEBI_53018 2,4-dinitrophenyl group http://purl.obolibrary.org/obo/CHEBI_33249 organyl group http://purl.obolibrary.org/obo/NCBITaxon_1648 Erysipelothrix rhusiopathiae http://purl.obolibrary.org/obo/NCBITaxon_1647 Erysipelothrix http://purl.obolibrary.org/obo/SYMP_0000134 sinusitis http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/CHEBI_33859 aromatic carboxylic acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/NCBITaxon_147387 Poeae http://purl.obolibrary.org/obo/NCBITaxon_1648037 Poodae http://purl.obolibrary.org/obo/SYMP_0000664 yellow exudate from nose http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33709 amino acid http://purl.obolibrary.org/obo/NCBITaxon_3052303 Mammarenavirus choriomeningitidis http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SYMP_0000701 nasal discharge http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/CHEBI_15400 (-)-carvone http://purl.obolibrary.org/obo/CHEBI_38265 carvone http://purl.obolibrary.org/obo/NCBITaxon_3052310 Mammarenavirus lassaense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SYMP_0000741 nasal bleeding http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/CHEBI_28593 quinidine http://purl.obolibrary.org/obo/CHEBI_51323 cinchona alkaloid http://purl.obolibrary.org/obo/NCBITaxon_2169991 Mammarenavirus juninense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SYMP_0000019 deafness http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/CHEBI_53213 diisocyanate http://purl.obolibrary.org/obo/CHEBI_53212 isocyanates http://purl.obolibrary.org/obo/NCBITaxon_3052302 Mammarenavirus chapareense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SYMP_0000393 tinnitus http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/CL_0000000 cell http://purl.obolibrary.org/obo/NCBITaxon_3052307 Mammarenavirus guanaritoense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SYMP_0000703 droopy ears http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/CL_4023154 myelinating glial cell http://purl.obolibrary.org/obo/CL_0000125 glial cell http://purl.obolibrary.org/obo/NCBITaxon_3052314 Mammarenavirus lujoense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SYMP_0000397 unreactive mydriasis http://purl.obolibrary.org/obo/SYMP_0000396 mydriasis http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell http://purl.obolibrary.org/obo/CL_0000219 motile cell http://purl.obolibrary.org/obo/NCBITaxon_3052317 Mammarenavirus machupoense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SYMP_0000753 intense anxiety http://purl.obolibrary.org/obo/SYMP_0000412 anxiety http://purl.obolibrary.org/obo/CL_0001201 B cell, CD19-positive http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/NCBITaxon_3052331 Mammarenavirus whitewaterense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SYMP_0000415 amaurosis fugax http://purl.obolibrary.org/obo/SYMP_0000416 amaurosis http://purl.obolibrary.org/obo/CL_4052061 epidermal keratinocyte http://purl.obolibrary.org/obo/CL_0000362 epidermal cell http://purl.obolibrary.org/obo/NCBITaxon_169449 Coelopinae http://purl.obolibrary.org/obo/NCBITaxon_169440 Coelopidae http://purl.obolibrary.org/obo/SYMP_0000254 dilated pupil http://purl.obolibrary.org/obo/SYMP_0000417 pupil symptom http://purl.obolibrary.org/obo/CL_2000029 central nervous system neuron http://purl.obolibrary.org/obo/CL_0000540 neuron http://purl.obolibrary.org/obo/NCBITaxon_169455 Coelopellini http://purl.obolibrary.org/obo/NCBITaxon_169449 Coelopinae http://purl.obolibrary.org/obo/SYMP_0000418 contracted pupil http://purl.obolibrary.org/obo/SYMP_0000417 pupil symptom http://purl.obolibrary.org/obo/CL_0001065 innate lymphoid cell http://purl.obolibrary.org/obo/CL_0000542 lymphocyte http://purl.obolibrary.org/obo/NCBITaxon_169495 This http://purl.obolibrary.org/obo/NCBITaxon_169455 Coelopellini http://purl.obolibrary.org/obo/SYMP_0000419 miosis http://purl.obolibrary.org/obo/SYMP_0000418 contracted pupil http://purl.obolibrary.org/obo/CL_2000074 splenocyte http://purl.obolibrary.org/obo/CL_0000738 leukocyte http://purl.obolibrary.org/obo/NCBITaxon_721805 Amygdaleae http://purl.obolibrary.org/obo/NCBITaxon_171637 Amygdaloideae http://purl.obolibrary.org/obo/SYMP_0000611 periumbilic abdominal pain http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain http://purl.obolibrary.org/obo/CL_0001200 lymphocyte of B lineage, CD19-positive http://purl.obolibrary.org/obo/CL_0000945 lymphocyte of B lineage http://purl.obolibrary.org/obo/NCBITaxon_721813 Maleae http://purl.obolibrary.org/obo/NCBITaxon_171637 Amygdaloideae http://purl.obolibrary.org/obo/SYMP_0000648 tenesmus http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/CL_2000064 ovarian surface epithelial cell http://purl.obolibrary.org/obo/CL_0002078 meso-epithelial cell http://purl.obolibrary.org/obo/NCBITaxon_2706 Citrus http://purl.obolibrary.org/obo/NCBITaxon_1728959 Aurantioideae http://purl.obolibrary.org/obo/SYMP_0000311 intestinal hypermotility http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_10575 calcium metabolism disease http://purl.obolibrary.org/obo/DOID_0050032 mineral metabolism disease http://purl.obolibrary.org/obo/NCBITaxon_2037 Actinomycetales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/SYMP_0000725 necrosis of jejunum http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_2351 iron metabolism disease http://purl.obolibrary.org/obo/DOID_0050032 mineral metabolism disease http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/SYMP_0000702 distended loops of intestines on rectal http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_2485 phosphorus metabolism disease http://purl.obolibrary.org/obo/DOID_0050032 mineral metabolism disease http://purl.obolibrary.org/obo/NCBITaxon_85009 Propionibacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/SYMP_0000255 diminished gastro-intestinal motility http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_445 Bartter disease http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/SYMP_0000639 rectorrhagia http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_1355 paranasal sinus lymphoma http://purl.obolibrary.org/obo/DOID_0060058 lymphoma http://purl.obolibrary.org/obo/NCBITaxon_1769 Mycobacterium leprae http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/SYMP_0000509 flatulence http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/DOID_1357 maxillary sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/NCBITaxon_120793 Mycobacterium avium complex (MAC) http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/SYMP_0000001 abdominal cramp http://purl.obolibrary.org/obo/SYMP_0000461 abdominal symptom http://purl.obolibrary.org/obo/DOID_1360 frontal sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom http://purl.obolibrary.org/obo/SYMP_0000473 nutrition, metabolism, and development symptom http://purl.obolibrary.org/obo/DOID_1363 ethmoid sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/NCBITaxon_186458 Orthobornavirus http://purl.obolibrary.org/obo/NCBITaxon_178830 Bornaviridae http://purl.obolibrary.org/obo/SYMP_0000553 neurologic neglect syndrome http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/DOID_14546 sphenoidal sinus cancer http://purl.obolibrary.org/obo/DOID_0050619 paranasal sinus cancer http://purl.obolibrary.org/obo/NCBITaxon_1714619 Orthobornavirus bornaense http://purl.obolibrary.org/obo/NCBITaxon_186458 Orthobornavirus http://purl.obolibrary.org/obo/SYMP_0000124 seizure http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1352 paranasal sinus disease http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/SYMP_0000743 blotchy red rash http://purl.obolibrary.org/obo/SYMP_0000487 rash http://purl.obolibrary.org/obo/DOID_2598 laryngeal benign neoplasm http://purl.obolibrary.org/obo/DOID_786 laryngeal disease http://purl.obolibrary.org/obo/NCBITaxon_1489388 Euteleosteomorpha http://purl.obolibrary.org/obo/NCBITaxon_186625 Clupeocephala http://purl.obolibrary.org/obo/SYMP_0000693 decreased facial sensation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_3906 bronchial benign neoplasm http://purl.obolibrary.org/obo/DOID_1176 bronchial disease http://purl.obolibrary.org/obo/NCBITaxon_186634 Otomorpha http://purl.obolibrary.org/obo/NCBITaxon_186625 Clupeocephala http://purl.obolibrary.org/obo/SYMP_0000556 localized superficial lump http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_13110 bladder squamous papilloma http://purl.obolibrary.org/obo/DOID_0050623 bladder benign neoplasm http://purl.obolibrary.org/obo/NCBITaxon_186627 Cypriniphysae http://purl.obolibrary.org/obo/NCBITaxon_186626 Otophysi http://purl.obolibrary.org/obo/SYMP_0020020 abnormal scar formation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_14777 benign familial neonatal epilepsy http://purl.obolibrary.org/obo/DOID_0050702 neonatal period electroclinical syndrome http://purl.obolibrary.org/obo/NCBITaxon_7952 Cypriniformes http://purl.obolibrary.org/obo/NCBITaxon_186627 Cypriniphysae http://purl.obolibrary.org/obo/SYMP_0000017 crinkle http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_11312 Mobitz type II atrioventricular block http://purl.obolibrary.org/obo/DOID_0050822 second-degree atrioventricular block http://purl.obolibrary.org/obo/NCBITaxon_32519 Ostariophysi http://purl.obolibrary.org/obo/NCBITaxon_186634 Otomorpha http://purl.obolibrary.org/obo/SYMP_0000536 disturbance of skin sensation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_13884 sick sinus syndrome http://purl.obolibrary.org/obo/DOID_0050824 sinoatrial node disease http://purl.obolibrary.org/obo/NCBITaxon_186802 Eubacteriales http://purl.obolibrary.org/obo/NCBITaxon_186801 Clostridia http://purl.obolibrary.org/obo/SYMP_0000818 localized superficial mass http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_11299 vertebral artery occlusion http://purl.obolibrary.org/obo/DOID_5976 occlusion precerebral artery http://purl.obolibrary.org/obo/NCBITaxon_31979 Clostridiaceae http://purl.obolibrary.org/obo/NCBITaxon_186802 Eubacteriales http://purl.obolibrary.org/obo/SYMP_0000184 change in skin color http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/DOID_13095 vertebral artery insufficiency http://purl.obolibrary.org/obo/DOID_225 syndrome http://purl.obolibrary.org/obo/NCBITaxon_1386 Bacillus http://purl.obolibrary.org/obo/NCBITaxon_186817 Bacillaceae http://purl.obolibrary.org/obo/SYMP_0000130 severe headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/DOID_13446 basilar artery occlusion http://purl.obolibrary.org/obo/DOID_5976 occlusion precerebral artery http://purl.obolibrary.org/obo/NCBITaxon_1637 Listeria http://purl.obolibrary.org/obo/NCBITaxon_186820 Listeriaceae http://purl.obolibrary.org/obo/SYMP_0000630 frontal headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/DOID_14006 splenic artery aneurysm http://purl.obolibrary.org/obo/DOID_0050828 artery disease http://purl.obolibrary.org/obo/NCBITaxon_1300 Streptococcaceae http://purl.obolibrary.org/obo/NCBITaxon_186826 Lactobacillales http://purl.obolibrary.org/obo/SYMP_0000684 bifrontal headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/DOID_2388 renal artery disease http://purl.obolibrary.org/obo/DOID_0050828 artery disease http://purl.obolibrary.org/obo/NCBITaxon_119225 Protomacleaya http://purl.obolibrary.org/obo/NCBITaxon_190765 Ochlerotatus http://purl.obolibrary.org/obo/SYMP_0000082 lesions in lung http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom http://purl.obolibrary.org/obo/DOID_3407 carotid artery disease http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/NCBITaxon_197 Campylobacter jejuni http://purl.obolibrary.org/obo/NCBITaxon_194 Campylobacter http://purl.obolibrary.org/obo/SYMP_0000292 heart failure http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/DOID_3527 cerebral arterial disease http://purl.obolibrary.org/obo/DOID_13089 intracranial arterial disease http://purl.obolibrary.org/obo/NCBITaxon_11908 Human T-cell leukemia virus type I http://purl.obolibrary.org/obo/NCBITaxon_194440 Primate T-lymphotropic virus 1 http://purl.obolibrary.org/obo/SYMP_0000357 postphlebitic ulcer http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/DOID_116 pericardium cancer http://purl.obolibrary.org/obo/DOID_117 heart cancer http://purl.obolibrary.org/obo/NCBITaxon_3701028 Altocrustacea http://purl.obolibrary.org/obo/NCBITaxon_197562 Pancrustacea http://purl.obolibrary.org/obo/SYMP_0000298 hoarse voice http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/DOID_1312 focal segmental glomerulosclerosis http://purl.obolibrary.org/obo/DOID_0050851 glomerulosclerosis http://purl.obolibrary.org/obo/NCBITaxon_197562 Pancrustacea http://purl.obolibrary.org/obo/NCBITaxon_197563 Mandibulata http://purl.obolibrary.org/obo/SYMP_0000574 aphonia http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/DOID_12705 Friedreich ataxia http://purl.obolibrary.org/obo/DOID_0050950 autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinomycetota http://purl.obolibrary.org/obo/SYMP_0000704 dysphonia http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/DOID_10817 sexual sadism http://purl.obolibrary.org/obo/DOID_0060043 sexual health disorder http://purl.obolibrary.org/obo/NCBITaxon_69034 Rotaliidae http://purl.obolibrary.org/obo/NCBITaxon_203397 Rotaliacea http://purl.obolibrary.org/obo/SYMP_0020063 blood pressure http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/DOID_10849 sexual masochism http://purl.obolibrary.org/obo/DOID_0060043 sexual health disorder http://purl.obolibrary.org/obo/NCBITaxon_203491 Fusobacteriales http://purl.obolibrary.org/obo/NCBITaxon_203490 Fusobacteriia http://purl.obolibrary.org/obo/SYMP_0000015 giddiness http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/DOID_10834 voyeurism http://purl.obolibrary.org/obo/DOID_0060044 paraphilia disorder http://purl.obolibrary.org/obo/NCBITaxon_1129771 Leptotrichiaceae http://purl.obolibrary.org/obo/NCBITaxon_203491 Fusobacteriales http://purl.obolibrary.org/obo/SYMP_0000566 sleep disturbance http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000411 infant symptom http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/DOID_1235 fetishism http://purl.obolibrary.org/obo/DOID_0060044 paraphilia disorder http://purl.obolibrary.org/obo/SYMP_0000672 abscess http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/NCBITaxon_203692 Spirochaetia http://purl.obolibrary.org/obo/NCBITaxon_203691 Spirochaetota http://purl.obolibrary.org/obo/DOID_13351 pedophilia http://purl.obolibrary.org/obo/DOID_0060044 paraphilia disorder http://purl.obolibrary.org/obo/SYMP_0000177 weakness http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/NCBITaxon_3118682 Leptospiria http://purl.obolibrary.org/obo/NCBITaxon_203691 Spirochaetota http://purl.obolibrary.org/obo/DOID_10540 gastric lymphoma http://purl.obolibrary.org/obo/DOID_10534 stomach cancer http://purl.obolibrary.org/obo/SYMP_0000651 discharge http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/NCBITaxon_136 Spirochaetales http://purl.obolibrary.org/obo/NCBITaxon_203692 Spirochaetia http://purl.obolibrary.org/obo/DOID_10813 nasal cavity lymphoma http://purl.obolibrary.org/obo/DOID_10811 nasal cavity cancer http://purl.obolibrary.org/obo/SYMP_0000689 cramp http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/NCBITaxon_2049 Actinomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_2037 Actinomycetales http://purl.obolibrary.org/obo/NCBITaxon_204429 Chlamydiia http://purl.obolibrary.org/obo/NCBITaxon_204428 Chlamydiota http://purl.obolibrary.org/obo/DOID_1106 esophagus lymphoma http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer http://purl.obolibrary.org/obo/SYMP_0020011 bloody diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/NCBITaxon_51291 Chlamydiales http://purl.obolibrary.org/obo/NCBITaxon_204429 Chlamydiia http://purl.obolibrary.org/obo/DOID_11241 appendix lymphoma http://purl.obolibrary.org/obo/DOID_11239 appendix cancer http://purl.obolibrary.org/obo/SYMP_0000228 hemorrhagic diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/NCBITaxon_1654 Actinomyces http://purl.obolibrary.org/obo/NCBITaxon_2049 Actinomycetaceae http://purl.obolibrary.org/obo/DOID_11821 bladder lymphoma http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/SYMP_0000376 severe diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/SYMP_0000754 severe chest pain http://purl.obolibrary.org/obo/SYMP_0000576 chest pain http://purl.obolibrary.org/obo/NCBITaxon_2529408 Schaalia http://purl.obolibrary.org/obo/NCBITaxon_2049 Actinomycetaceae http://purl.obolibrary.org/obo/DOID_12001 tracheal lymphoma http://purl.obolibrary.org/obo/DOID_11920 tracheal cancer http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/SYMP_0000597 head and neck symptom http://purl.obolibrary.org/obo/NCBITaxon_481 Neisseriaceae http://purl.obolibrary.org/obo/NCBITaxon_206351 Neisseriales http://purl.obolibrary.org/obo/NCBITaxon_72294 Campylobacteraceae http://purl.obolibrary.org/obo/NCBITaxon_213849 Campylobacterales http://purl.obolibrary.org/obo/DOID_12253 testicular lymphoma http://purl.obolibrary.org/obo/DOID_2998 testicular cancer http://purl.obolibrary.org/obo/SYMP_0000671 sudden onset of fever http://purl.obolibrary.org/obo/SYMP_0000613 fever http://purl.obolibrary.org/obo/SYMP_0000627 disturbed vision http://purl.obolibrary.org/obo/SYMP_0000628 vision distortion http://purl.obolibrary.org/obo/NCBITaxon_63671 Turbinidae http://purl.obolibrary.org/obo/NCBITaxon_216285 Trochoidea http://purl.obolibrary.org/obo/DOID_12339 retroperitoneal lymphoma http://purl.obolibrary.org/obo/DOID_5875 retroperitoneal cancer http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/NCBITaxon_5592 Microascales http://purl.obolibrary.org/obo/NCBITaxon_222543 Hypocreomycetidae http://purl.obolibrary.org/obo/DOID_13996 small intestine lymphoma http://purl.obolibrary.org/obo/DOID_10154 small intestine cancer http://purl.obolibrary.org/obo/DOID_14139 anus lymphoma http://purl.obolibrary.org/obo/DOID_14110 anus cancer http://purl.obolibrary.org/obo/SYMP_0000618 abnormal posture http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/NCBITaxon_5151 Ophiostomatales http://purl.obolibrary.org/obo/NCBITaxon_222544 Sordariomycetidae http://purl.obolibrary.org/obo/DOID_14489 ureteral lymphoma http://purl.obolibrary.org/obo/DOID_11819 ureter cancer http://purl.obolibrary.org/obo/SYMP_0000694 decreased jaw tone http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/NCBITaxon_234 Brucella http://purl.obolibrary.org/obo/DOID_1522 cecum lymphoma http://purl.obolibrary.org/obo/DOID_1521 cecum cancer http://purl.obolibrary.org/obo/SYMP_0000713 inability to lie flat http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/DOID_1523 colon lymphoma http://purl.obolibrary.org/obo/DOID_219 colon cancer http://purl.obolibrary.org/obo/DOID_11624 penile benign neoplasm http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/NCBITaxon_1728959 Aurantioideae http://purl.obolibrary.org/obo/NCBITaxon_23513 Rutaceae http://purl.obolibrary.org/obo/SYMP_0000617 torticollis http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/DOID_916 liver benign neoplasm http://purl.obolibrary.org/obo/DOID_409 liver disease http://purl.obolibrary.org/obo/DOID_501 central nervous system hemangioma http://purl.obolibrary.org/obo/DOID_255 hemangioma http://purl.obolibrary.org/obo/NCBITaxon_1521262 Polypodiidae http://purl.obolibrary.org/obo/NCBITaxon_241806 Polypodiopsida http://purl.obolibrary.org/obo/SYMP_0000183 muscle symptom http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/SYMP_0000744 cervical lymphadenopathy http://purl.obolibrary.org/obo/SYMP_0019142 lymphadenopathy http://purl.obolibrary.org/obo/NCBITaxon_35793 Rickettsia sibirica http://purl.obolibrary.org/obo/NCBITaxon_266068 Rickettsia sibirica subgroup http://purl.obolibrary.org/obo/DOID_60006 benign vascular tumor http://purl.obolibrary.org/obo/DOID_0060091 cardiovascular organ benign neoplasm http://purl.obolibrary.org/obo/NCBITaxon_2711 Citrus sinensis http://purl.obolibrary.org/obo/NCBITaxon_2706 Citrus http://purl.obolibrary.org/obo/SYMP_0020007 anterior scleral inflammation http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000211 asthenopia http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_166 melanotic neuroectodermal tumor http://purl.obolibrary.org/obo/DOID_0060094 bone benign neoplasm http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/SYMP_0000212 eye strain http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/DOID_4386 myofibroma http://purl.obolibrary.org/obo/DOID_0060123 connective tissue benign neoplasm http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/DOID_11151 cholecystolithiasis http://purl.obolibrary.org/obo/DOID_0060262 gallbladder disease http://purl.obolibrary.org/obo/DOID_11665 Patau syndrome http://purl.obolibrary.org/obo/DOID_0080014 chromosomal disease http://purl.obolibrary.org/obo/SYMP_0000253 anisocoria http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/DOID_10488 imperforate anus http://purl.obolibrary.org/obo/DOID_3128 anus disease http://purl.obolibrary.org/obo/SYMP_0000281 eye discharge http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_11044 gastroschisis http://purl.obolibrary.org/obo/DOID_0080015 physical disorder http://purl.obolibrary.org/obo/SYMP_0000284 fixed pupil http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_11367 congenital aphakia http://purl.obolibrary.org/obo/DOID_110 lens disease http://purl.obolibrary.org/obo/SYMP_0000301 hypopyon http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_14177 congenital hypogammaglobulinemia http://purl.obolibrary.org/obo/DOID_2115 B cell deficiency http://purl.obolibrary.org/obo/NCBITaxon_9903 Bos http://purl.obolibrary.org/obo/NCBITaxon_27592 Bovinae http://purl.obolibrary.org/obo/SYMP_0000310 inflamed eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_2490 congenital nervous system abnormality http://purl.obolibrary.org/obo/DOID_863 nervous system disease http://purl.obolibrary.org/obo/NCBITaxon_299467 Leptotrombidium deliense http://purl.obolibrary.org/obo/NCBITaxon_279271 Leptotrombidium http://purl.obolibrary.org/obo/NCBITaxon_356 Hyphomicrobiales http://purl.obolibrary.org/obo/NCBITaxon_28211 Alphaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_766 Rickettsiales http://purl.obolibrary.org/obo/NCBITaxon_28211 Alphaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_206351 Neisseriales http://purl.obolibrary.org/obo/NCBITaxon_28216 Betaproteobacteria http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia http://purl.obolibrary.org/obo/DOID_583 hemolytic anemia http://purl.obolibrary.org/obo/NCBITaxon_80840 Burkholderiales http://purl.obolibrary.org/obo/NCBITaxon_28216 Betaproteobacteria http://purl.obolibrary.org/obo/SYMP_0000338 nystagmus http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_5598 Alternaria http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/DOID_1260 parametritis http://purl.obolibrary.org/obo/DOID_1003 pelvic inflammatory disease http://purl.obolibrary.org/obo/SYMP_0000417 pupil symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_91493 Exserohilum http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/DOID_11177 total internal ophthalmoplegia http://purl.obolibrary.org/obo/DOID_238 pupil disease http://purl.obolibrary.org/obo/SYMP_0000446 bloodshot eye http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_5502 Curvularia http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/DOID_11637 accommodative spasm http://purl.obolibrary.org/obo/DOID_10034 eye accommodation disease http://purl.obolibrary.org/obo/SYMP_0000665 yellow exudate from eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_5094 Talaromyces http://purl.obolibrary.org/obo/NCBITaxon_28568 Trichocomaceae http://purl.obolibrary.org/obo/DOID_11638 presbyopia http://purl.obolibrary.org/obo/DOID_10034 eye accommodation disease http://purl.obolibrary.org/obo/SYMP_0000690 cranial nerve palsies http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_56210 Calomys callosus http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/DOID_12304 conjunctival pigmentation http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease http://purl.obolibrary.org/obo/SYMP_0000714 intraretinal hemorrhage http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_56211 Calomys laucha http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/DOID_12305 Bloch-Sulzberger syndrome http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease http://purl.obolibrary.org/obo/SYMP_0000722 moderate conjuctival injection http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_56212 Calomys musculinus http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/DOID_12311 stromal corneal pigmentation http://purl.obolibrary.org/obo/DOID_10123 pigmentation disease http://purl.obolibrary.org/obo/SYMP_0000767 subconjunctival bleeding http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_137207 Oligoryzomys longicaudatus http://purl.obolibrary.org/obo/NCBITaxon_29120 Oligoryzomys http://purl.obolibrary.org/obo/NCBITaxon_37020 Oryzomys palustris http://purl.obolibrary.org/obo/NCBITaxon_29122 Oryzomys http://purl.obolibrary.org/obo/DOID_11028 pseudopterygium http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/SYMP_0019164 excessive tearing http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_29185 Rotaliida http://purl.obolibrary.org/obo/NCBITaxon_29178 Foraminifera http://purl.obolibrary.org/obo/DOID_11547 corneal deposit http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/SYMP_0019165 light sensitivity http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_203397 Rotaliacea http://purl.obolibrary.org/obo/NCBITaxon_29185 Rotaliida http://purl.obolibrary.org/obo/DOID_11552 Bowman's membrane folds or rupture http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/SYMP_0019172 ocular lesion http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/NCBITaxon_3031852 Epsilonproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_29547 Campylobacterota http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease http://purl.obolibrary.org/obo/DOID_12753 corneal staphyloma http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/SYMP_0000210 photophobia http://purl.obolibrary.org/obo/SYMP_0019165 light sensitivity http://purl.obolibrary.org/obo/NCBITaxon_6936 Argasidae http://purl.obolibrary.org/obo/NCBITaxon_297308 Ixodoidea http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/NCBITaxon_297308 Ixodoidea http://purl.obolibrary.org/obo/DOID_13447 corneal argyrosis http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/NCBITaxon_694002 Betacoronavirus http://purl.obolibrary.org/obo/NCBITaxon_2501931 Orthocoronavirinae http://purl.obolibrary.org/obo/NCBITaxon_29908 Sporothrix schenckii http://purl.obolibrary.org/obo/NCBITaxon_29907 Sporothrix http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/DOID_1436 corneal ectasia http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/NCBITaxon_38946 Paracoccidioides http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_2560194 Orthoavulavirus http://purl.obolibrary.org/obo/NCBITaxon_2560069 Avulavirinae http://purl.obolibrary.org/obo/DOID_2566 corneal dystrophy http://purl.obolibrary.org/obo/DOID_10124 corneal disease http://purl.obolibrary.org/obo/NCBITaxon_1955773 Emergomyces http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_2560195 Orthorubulavirus http://purl.obolibrary.org/obo/NCBITaxon_2560080 Rubulavirinae http://purl.obolibrary.org/obo/DOID_10428 stable condition keratoconus http://purl.obolibrary.org/obo/DOID_10126 keratoconus http://purl.obolibrary.org/obo/NCBITaxon_229219 Blastomyces http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_3051375 Orthoavulavirus javaense http://purl.obolibrary.org/obo/NCBITaxon_2560194 Orthoavulavirus http://purl.obolibrary.org/obo/NCBITaxon_234 Brucella http://purl.obolibrary.org/obo/NCBITaxon_2826938 Brucella/Ochrobactrum group http://purl.obolibrary.org/obo/DOID_11120 psychologic dyspareunia http://purl.obolibrary.org/obo/DOID_10132 psychosexual disorder http://purl.obolibrary.org/obo/NCBITaxon_121221 Pediculidae http://purl.obolibrary.org/obo/NCBITaxon_30005 Anoplura http://purl.obolibrary.org/obo/FOODON_00001046 animal seafood product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/DOID_13709 premature ejaculation http://purl.obolibrary.org/obo/DOID_10132 psychosexual disorder http://purl.obolibrary.org/obo/NCBITaxon_7953 Cyprinidae http://purl.obolibrary.org/obo/NCBITaxon_30727 Cyprinoidei http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/DOID_13868 hypoactive sexual desire disorder http://purl.obolibrary.org/obo/DOID_10132 psychosexual disorder http://purl.obolibrary.org/obo/DOID_11029 pinguecula http://purl.obolibrary.org/obo/DOID_10139 conjunctival degeneration http://purl.obolibrary.org/obo/NCBITaxon_2743709 Danionidae http://purl.obolibrary.org/obo/NCBITaxon_30727 Cyprinoidei http://purl.obolibrary.org/obo/SYMP_0020058 severe bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0020057 bronchiole inflammation http://purl.obolibrary.org/obo/DOID_12895 keratoconjunctivitis sicca http://purl.obolibrary.org/obo/DOID_10140 dry eye syndrome http://purl.obolibrary.org/obo/DOID_13499 jejunal cancer http://purl.obolibrary.org/obo/DOID_10154 small intestine cancer http://purl.obolibrary.org/obo/NCBITaxon_3051624 Amdoparvovirus carnivoran1 http://purl.obolibrary.org/obo/NCBITaxon_310911 Amdoparvovirus http://purl.obolibrary.org/obo/SYMP_0020059 suppurative bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0020057 bronchiole inflammation http://purl.obolibrary.org/obo/DOID_14202 adult dermatomyositis http://purl.obolibrary.org/obo/DOID_10223 dermatomyositis http://purl.obolibrary.org/obo/NCBITaxon_91561 Artiodactyla http://purl.obolibrary.org/obo/NCBITaxon_314145 Laurasiatheria http://purl.obolibrary.org/obo/NCBITaxon_3046277 Orthoflavivirus flavi http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3048158 Orthoflavivirus japonicum http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_14203 childhood type dermatomyositis http://purl.obolibrary.org/obo/DOID_10223 dermatomyositis http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_3048215 Orthoflavivirus murrayense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3048287 Orthoflavivirus powassanense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_13209 right bundle branch block http://purl.obolibrary.org/obo/DOID_10273 heart conduction disease http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_3048448 Orthoflavivirus nilense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_14451 hyperkalemic periodic paralysis http://purl.obolibrary.org/obo/DOID_1029 familial periodic paralysis http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_3048233 Orthoflavivirus omskense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_14452 hypokalemic periodic paralysis http://purl.obolibrary.org/obo/DOID_1029 familial periodic paralysis http://purl.obolibrary.org/obo/NCBITaxon_2801844 Arachnia http://purl.obolibrary.org/obo/NCBITaxon_31957 Propionibacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_3052465 Orthoflavivirus encephalitidis http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_13921 bacterial esophagitis http://purl.obolibrary.org/obo/DOID_11963 esophagitis http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_31979 Clostridiaceae http://purl.obolibrary.org/obo/NCBITaxon_3052468 Orthoflavivirus louisense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_1703 Richter's syndrome http://purl.obolibrary.org/obo/DOID_1040 chronic lymphocytic leukemia http://purl.obolibrary.org/obo/NCBITaxon_111527 pseudomallei group http://purl.obolibrary.org/obo/NCBITaxon_32008 Burkholderia http://purl.obolibrary.org/obo/NCBITaxon_3052464 Orthoflavivirus denguei http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_10442 hypopyon ulcer http://purl.obolibrary.org/obo/DOID_10443 hypopyon http://purl.obolibrary.org/obo/NCBITaxon_203490 Fusobacteriia http://purl.obolibrary.org/obo/NCBITaxon_32066 Fusobacteriota http://purl.obolibrary.org/obo/DOID_10480 diaphragmatic eventration http://purl.obolibrary.org/obo/DOID_10481 diaphragm disease http://purl.obolibrary.org/obo/NCBITaxon_3048170 Orthoflavivirus kyasanurense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_1489341 Osteoglossocephalai http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/DOID_10536 malignant gastric granular cell tumor http://purl.obolibrary.org/obo/DOID_10534 stomach cancer http://purl.obolibrary.org/obo/NCBITaxon_3048459 Orthoflavivirus zikaense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_186626 Otophysi http://purl.obolibrary.org/obo/NCBITaxon_32519 Ostariophysi http://purl.obolibrary.org/obo/DOID_10544 pylorus cancer http://purl.obolibrary.org/obo/DOID_10534 stomach cancer http://purl.obolibrary.org/obo/NCBITaxon_3700964 Euflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/DOID_10547 pyloric antrum cancer http://purl.obolibrary.org/obo/DOID_10544 pylorus cancer http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_3052505 Orthomarburgvirus marburgense http://purl.obolibrary.org/obo/NCBITaxon_3044783 Orthomarburgvirus http://purl.obolibrary.org/obo/DOID_12678 hypercalcemia http://purl.obolibrary.org/obo/DOID_10575 calcium metabolism disease http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_33743 Kyasanur Forest disease virus http://purl.obolibrary.org/obo/NCBITaxon_3048170 Orthoflavivirus kyasanurense http://purl.obolibrary.org/obo/DOID_12972 intrapelvic lymph node leukemic reticuloendotheliosis http://purl.obolibrary.org/obo/DOID_10619 lymph node cancer http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32604 Human betaherpesvirus 6B http://purl.obolibrary.org/obo/NCBITaxon_3050297 Roseolovirus humanbeta6b http://purl.obolibrary.org/obo/DOID_1066 residual stage of open angle glaucoma http://purl.obolibrary.org/obo/DOID_1067 open-angle glaucoma http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/DOID_13520 neonatal infective mastitis http://purl.obolibrary.org/obo/DOID_10690 mastitis http://purl.obolibrary.org/obo/NCBITaxon_72171 Ziziphus http://purl.obolibrary.org/obo/NCBITaxon_325284 Paliureae http://purl.obolibrary.org/obo/SO_0002387 5_prime_UTR_uORF_frameshift_variant http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/DOID_11520 benign hypertensive renal disease http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/SO_0002388 5_prime_UTR_uORF_stop_codon_gain_variant http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/SO_0002389 5_prime_UTR_uORF_stop_codon_loss_variant http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/NCBITaxon_6681 Malacostraca http://purl.obolibrary.org/obo/NCBITaxon_3701029 Communostraca http://purl.obolibrary.org/obo/DOID_11664 nephrosclerosis http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/NCBITaxon_153136 Deltaretrovirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_235 Brucella abortus http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/DOID_13730 malignant renovascular hypertension http://purl.obolibrary.org/obo/DOID_13731 malignant secondary hypertension http://purl.obolibrary.org/obo/DOID_1591 renovascular hypertension http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/DOID_3021 acute kidney failure http://purl.obolibrary.org/obo/DOID_1074 kidney failure http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_29459 Brucella melitensis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/DOID_11401 xanthogranulomatous pyelonephritis http://purl.obolibrary.org/obo/DOID_1076 chronic pyelonephritis http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_29461 Brucella suis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/DOID_11130 secondary hypertension http://purl.obolibrary.org/obo/DOID_10763 hypertension http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_36855 Brucella canis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/DOID_10812 nasal cavity olfactory neuroblastoma http://purl.obolibrary.org/obo/DOID_369 olfactory neuroblastoma http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/NCBITaxon_3691983 Clostridium botulinum group http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/DOID_10823 malignant essential hypertension http://purl.obolibrary.org/obo/DOID_10825 essential hypertension http://purl.obolibrary.org/obo/NCBITaxon_7147 Diptera http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/NCBITaxon_1593277 Onygenales incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/DOID_10913 benign essential hypertension http://purl.obolibrary.org/obo/DOID_10825 essential hypertension http://purl.obolibrary.org/obo/NCBITaxon_7509 Siphonaptera http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/DOID_12897 submandibular gland disease http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_12899 benign lymphoepithelial lesion of salivary gland http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/DOID_12901 necrotizing sialometaplasia http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/NCBITaxon_3048184 Orthoflavivirus loupingi http://purl.obolibrary.org/obo/NCBITaxon_3703354 Orthoflavivirus mediterranense http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/DOID_12904 mucocele of salivary gland http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/NCBITaxon_33342 Paraneoptera http://purl.obolibrary.org/obo/NCBITaxon_3701061 Eumetabola http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/DOID_12905 sialolithiasis http://purl.obolibrary.org/obo/DOID_10854 salivary gland disease http://purl.obolibrary.org/obo/NCBITaxon_33392 Endopterygota http://purl.obolibrary.org/obo/NCBITaxon_3701061 Eumetabola http://purl.obolibrary.org/obo/NCBITaxon_33259 Toxocaridae http://purl.obolibrary.org/obo/NCBITaxon_33256 Ascaridoidea http://purl.obolibrary.org/obo/DOID_10864 partial third-nerve palsy http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/NCBITaxon_6199 Cestoda http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/NCBITaxon_6267 Anisakidae http://purl.obolibrary.org/obo/NCBITaxon_33256 Ascaridoidea http://purl.obolibrary.org/obo/DOID_10866 total third-nerve palsy http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/NCBITaxon_6178 Trematoda http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/NCBITaxon_3703354 Orthoflavivirus mediterranense http://purl.obolibrary.org/obo/NCBITaxon_3700964 Euflavivirus http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/DOID_10869 fourth cranial nerve palsy http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/NCBITaxon_3701029 Communostraca http://purl.obolibrary.org/obo/NCBITaxon_3701028 Altocrustacea http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/DOID_1091 tooth disease http://purl.obolibrary.org/obo/NCBITaxon_3701061 Eumetabola http://purl.obolibrary.org/obo/NCBITaxon_33340 Neoptera http://purl.obolibrary.org/obo/NCBITaxon_3701030 Allotriocarida http://purl.obolibrary.org/obo/NCBITaxon_3701028 Altocrustacea http://purl.obolibrary.org/obo/DOID_11514 fissured tongue http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/NCBITaxon_1930602 Psocodea http://purl.obolibrary.org/obo/NCBITaxon_33342 Paraneoptera http://purl.obolibrary.org/obo/NCBITaxon_6960 Hexapoda http://purl.obolibrary.org/obo/NCBITaxon_3701030 Allotriocarida http://purl.obolibrary.org/obo/DOID_13333 hypertrophy of tongue papillae http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/NCBITaxon_173087 Human papillomavirus types http://purl.obolibrary.org/obo/NCBITaxon_333774 unclassified Papillomaviridae http://purl.obolibrary.org/obo/DOID_13500 hairy tongue http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/NCBITaxon_3701062 Aparaglossata http://purl.obolibrary.org/obo/NCBITaxon_33392 Endopterygota http://purl.obolibrary.org/obo/NCBITaxon_6683 Decapoda http://purl.obolibrary.org/obo/NCBITaxon_3701045 Stomatocarida http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/NCBITaxon_3701062 Aparaglossata http://purl.obolibrary.org/obo/DOID_1456 glossitis http://purl.obolibrary.org/obo/DOID_10944 tongue disease http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_5794 Apicomplexa http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/DOID_10472 obsolete candidal pneumonia A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain. http://purl.obolibrary.org/obo/DOID_8649 tongue cancer http://purl.obolibrary.org/obo/DOID_8618 oral cavity cancer http://purl.obolibrary.org/obo/NCBITaxon_5653 Kinetoplastea http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/DOID_10508 obsolete Bacillus anthracis pneumonia A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis. http://purl.obolibrary.org/obo/DOID_1063 interstitial nephritis http://purl.obolibrary.org/obo/DOID_10952 nephritis http://purl.obolibrary.org/obo/NCBITaxon_337963 Neotominae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/DOID_10510 obsolete influenza virus pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills. http://purl.obolibrary.org/obo/DOID_10963 cholesteatoma of attic http://purl.obolibrary.org/obo/DOID_10964 cholesteatoma of middle ear http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/DOID_10527 obsolete Haemophilus influenzae pneumonia A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless. http://purl.obolibrary.org/obo/DOID_10971 acute salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_10972 salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_10531 obsolete pneumococcal pneumonia A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting. http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/DOID_12265 chronic salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_10972 salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_13942 acute gonococcal salpingitis http://purl.obolibrary.org/obo/DOID_10973 acute salpingitis http://purl.obolibrary.org/obo/DOID_10532 obsolete streptococcal pneumonia A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias. http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/DOID_10972 salpingo-oophoritis http://purl.obolibrary.org/obo/DOID_10974 oophoritis http://purl.obolibrary.org/obo/DOID_10535 obsolete coxsackie myocarditis A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart. http://purl.obolibrary.org/obo/NCBITaxon_42407 Neotoma http://purl.obolibrary.org/obo/NCBITaxon_337963 Neotominae http://purl.obolibrary.org/obo/DOID_11364 lens subluxation http://purl.obolibrary.org/obo/DOID_110 lens disease http://purl.obolibrary.org/obo/DOID_11031 bullous keratopathy http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/NCBITaxon_1437183 Mesangiospermae http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/DOID_10545 obsolete coxsackievirus infectious disease An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. http://purl.obolibrary.org/obo/DOID_11032 secondary corneal edema http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/NCBITaxon_780 Rickettsia http://purl.obolibrary.org/obo/NCBITaxon_33988 Rickettsieae http://purl.obolibrary.org/obo/DOID_10551 obsolete cerebral toxoplasmosis A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. http://purl.obolibrary.org/obo/DOID_11033 idiopathic corneal edema http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/DOID_11034 contact lens corneal edema http://purl.obolibrary.org/obo/DOID_11030 corneal edema http://purl.obolibrary.org/obo/NCBITaxon_69474 Orientia http://purl.obolibrary.org/obo/NCBITaxon_33988 Rickettsieae http://purl.obolibrary.org/obo/DOID_10564 obsolete gangosa of yaws A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue. http://purl.obolibrary.org/obo/NCBITaxon_262 Francisella http://purl.obolibrary.org/obo/NCBITaxon_34064 Francisellaceae http://purl.obolibrary.org/obo/DOID_10731 obsolete nodular lung tuberculosis A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. http://purl.obolibrary.org/obo/DOID_11593 bladder lateral wall cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/NCBITaxon_34105 Streptobacillus moniliformis http://purl.obolibrary.org/obo/NCBITaxon_34104 Streptobacillus http://purl.obolibrary.org/obo/DOID_1077 obsolete Spirurida infectious disease A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida. http://purl.obolibrary.org/obo/NCBITaxon_43987 Geotrichum http://purl.obolibrary.org/obo/NCBITaxon_34353 Dipodascaceae http://purl.obolibrary.org/obo/NCBITaxon_34390 Epidermophyton http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/DOID_11809 bladder neck cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_1078 obsolete Chromadorea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands. http://purl.obolibrary.org/obo/NCBITaxon_1915381 Nannizzia http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/DOID_11811 urinary bladder posterior wall cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_10902 obsolete pulmonary actinomycosis An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses. http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/NCBITaxon_34395 Chaetothyriales http://purl.obolibrary.org/obo/DOID_11813 bladder trigone cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_10910 obsolete echovirus meningitis A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness. http://purl.obolibrary.org/obo/NCBITaxon_181088 Haemaphysalis flava http://purl.obolibrary.org/obo/NCBITaxon_34622 Haemaphysalis http://purl.obolibrary.org/obo/DOID_11814 urinary bladder anterior wall cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_10911 obsolete echovirus infectious disease An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. http://purl.obolibrary.org/obo/NCBITaxon_523089 Haemaphysalis concinna http://purl.obolibrary.org/obo/NCBITaxon_34622 Haemaphysalis http://purl.obolibrary.org/obo/DOID_11817 urachus cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_10919 obsolete transsexualism A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. http://purl.obolibrary.org/obo/NCBITaxon_426455 Rhipicephalus http://purl.obolibrary.org/obo/NCBITaxon_34630 Rhipicephalus http://purl.obolibrary.org/obo/DOID_11820 bladder dome cancer http://purl.obolibrary.org/obo/DOID_11054 urinary bladder cancer http://purl.obolibrary.org/obo/DOID_10957 obsolete Enterobacter aerogenes intestinal infectious disease An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers. http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/DOID_1677 low implantation of placenta http://purl.obolibrary.org/obo/DOID_11060 placenta praevia http://purl.obolibrary.org/obo/DOID_10958 obsolete Salmonella arizonae intestinal infectious disease A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea. http://purl.obolibrary.org/obo/NCBITaxon_9895 Bovidae http://purl.obolibrary.org/obo/NCBITaxon_35500 Pecora http://purl.obolibrary.org/obo/DOID_11282 solar retinopathy http://purl.obolibrary.org/obo/DOID_11086 chorioretinal scar http://purl.obolibrary.org/obo/DOID_10959 obsolete Escherichia coli intestinal infectious disease A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting. http://purl.obolibrary.org/obo/NCBITaxon_118882 Brucellaceae http://purl.obolibrary.org/obo/NCBITaxon_356 Hyphomicrobiales http://purl.obolibrary.org/obo/DOID_11283 peripheral scars of retina http://purl.obolibrary.org/obo/DOID_11086 chorioretinal scar http://purl.obolibrary.org/obo/DOID_10978 obsolete poliovirus type III nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/NCBITaxon_772 Bartonellaceae http://purl.obolibrary.org/obo/NCBITaxon_356 Hyphomicrobiales http://purl.obolibrary.org/obo/DOID_1073 renal hypertension http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_13143 benign secondary hypertension http://purl.obolibrary.org/obo/DOID_11130 secondary hypertension http://purl.obolibrary.org/obo/DOID_13731 malignant secondary hypertension http://purl.obolibrary.org/obo/DOID_11130 secondary hypertension http://purl.obolibrary.org/obo/DOID_11133 prostatic cyst http://purl.obolibrary.org/obo/DOID_11132 prostatic hypertrophy http://purl.obolibrary.org/obo/DOID_10979 obsolete poliovirus type I nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/NCBITaxon_147368 Pooideae http://purl.obolibrary.org/obo/NCBITaxon_359160 BOP clade http://purl.obolibrary.org/obo/DOID_13206 nodular prostate http://purl.obolibrary.org/obo/DOID_11132 prostatic hypertrophy http://purl.obolibrary.org/obo/DOID_14152 spinal cord sarcoma http://purl.obolibrary.org/obo/DOID_5612 spinal cancer http://purl.obolibrary.org/obo/DOID_11203 Angelucci's syndrome http://purl.obolibrary.org/obo/DOID_11204 allergic conjunctivitis http://purl.obolibrary.org/obo/DOID_12537 hypermobility of coccyx http://purl.obolibrary.org/obo/DOID_1123 spondyloarthropathy http://purl.obolibrary.org/obo/DOID_10980 obsolete poliovirus type II nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/NCBITaxon_325284 Paliureae http://purl.obolibrary.org/obo/NCBITaxon_3608 Rhamnaceae http://purl.obolibrary.org/obo/DOID_6590 spondylitis http://purl.obolibrary.org/obo/DOID_1123 spondyloarthropathy http://purl.obolibrary.org/obo/DOID_11092 obsolete Salmonella gastroenteritis A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness. http://purl.obolibrary.org/obo/DOID_11093 obsolete bacterial gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting. http://purl.obolibrary.org/obo/NCBITaxon_36087 Trichuris trichiura http://purl.obolibrary.org/obo/NCBITaxon_36086 Trichuris http://purl.obolibrary.org/obo/DOID_11246 DIC in newborn http://purl.obolibrary.org/obo/DOID_11247 disseminated intravascular coagulation http://purl.obolibrary.org/obo/DOID_11097 obsolete pulmonary syphilis A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever. http://purl.obolibrary.org/obo/NCBITaxon_1003877 Benincaseae http://purl.obolibrary.org/obo/NCBITaxon_3650 Cucurbitaceae http://purl.obolibrary.org/obo/DOID_1129 pituitary apoplexy http://purl.obolibrary.org/obo/DOID_1130 pituitary infarct http://purl.obolibrary.org/obo/DOID_11167 obsolete uterine cervix condylomata acuminata An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts. http://purl.obolibrary.org/obo/NCBITaxon_3656 Cucumis melo http://purl.obolibrary.org/obo/NCBITaxon_3655 Cucumis http://purl.obolibrary.org/obo/DOID_13402 skin sarcoidosis http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/DOID_11169 obsolete vaginal condylomata acuminata An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts. http://purl.obolibrary.org/obo/NCBITaxon_6033 Encephalitozoon http://purl.obolibrary.org/obo/NCBITaxon_36734 Unikaryonidae http://purl.obolibrary.org/obo/DOID_13407 hypercalcemic sarcoidosis http://purl.obolibrary.org/obo/DOID_11335 sarcoidosis http://purl.obolibrary.org/obo/DOID_11170 obsolete vulvar condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts. http://purl.obolibrary.org/obo/NCBITaxon_3608 Rhamnaceae http://purl.obolibrary.org/obo/NCBITaxon_3744 Rosales http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/DOID_11343 scleral disease http://purl.obolibrary.org/obo/DOID_11171 obsolete urethral condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts. http://purl.obolibrary.org/obo/NCBITaxon_3745 Rosaceae http://purl.obolibrary.org/obo/NCBITaxon_3744 Rosales http://purl.obolibrary.org/obo/DOID_13452 scleritis http://purl.obolibrary.org/obo/DOID_11343 scleral disease http://purl.obolibrary.org/obo/DOID_11172 obsolete anal condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts. http://purl.obolibrary.org/obo/NCBITaxon_171637 Amygdaloideae http://purl.obolibrary.org/obo/NCBITaxon_3745 Rosaceae http://purl.obolibrary.org/obo/NCBITaxon_3750 Malus domestica http://purl.obolibrary.org/obo/NCBITaxon_3749 Malus http://purl.obolibrary.org/obo/DOID_11354 stone in bladder diverticulum http://purl.obolibrary.org/obo/DOID_11353 bladder diverticulum http://purl.obolibrary.org/obo/DOID_11179 obsolete otitis media with effusion A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. http://purl.obolibrary.org/obo/NCBITaxon_36596 Prunus armeniaca http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/NCBITaxon_3758 Prunus domestica http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/DOID_12087 deep corneal vascularisation http://purl.obolibrary.org/obo/DOID_11382 corneal neovascularization http://purl.obolibrary.org/obo/DOID_11182 obsolete chronic otitis media with effusion A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting. http://purl.obolibrary.org/obo/NCBITaxon_3760 Prunus persica http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/DOID_11259 obsolete Cytomegalovirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. http://purl.obolibrary.org/obo/DOID_1138 spinal meningioma http://purl.obolibrary.org/obo/DOID_3565 meningioma http://purl.obolibrary.org/obo/NCBITaxon_42229 Prunus avium http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/DOID_11261 obsolete foot and mouth disease A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness. http://purl.obolibrary.org/obo/DOID_1076 chronic pyelonephritis http://purl.obolibrary.org/obo/DOID_11400 pyelonephritis http://purl.obolibrary.org/obo/NCBITaxon_44281 Pneumocystaceae http://purl.obolibrary.org/obo/NCBITaxon_37987 Pneumocystales http://purl.obolibrary.org/obo/DOID_11314 obsolete Histoplasma duboisii retinitis An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions. http://purl.obolibrary.org/obo/NCBITaxon_4479 Poaceae http://purl.obolibrary.org/obo/NCBITaxon_38820 Poales http://purl.obolibrary.org/obo/DOID_1142 alternating exotropia http://purl.obolibrary.org/obo/DOID_1143 exotropia http://purl.obolibrary.org/obo/DOID_11340 obsolete Pneumocystis infectious disease An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. http://purl.obolibrary.org/obo/NCBITaxon_121759 Paracoccidioides brasiliensis http://purl.obolibrary.org/obo/NCBITaxon_38946 Paracoccidioides http://purl.obolibrary.org/obo/DOID_11853 monocular exotropia http://purl.obolibrary.org/obo/DOID_1143 exotropia http://purl.obolibrary.org/obo/DOID_11341 obsolete fungal lung infectious disease A lung disease that is a mycosis caused by fungal growth in the lungs. http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/DOID_11488 idiopathic peripheral autonomic neuropathy http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease http://purl.obolibrary.org/obo/DOID_11404 obsolete diphtheritic laryngotracheitis A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough. http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/DOID_11504 autonomic neuropathy http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/DOID_11418 obsolete Trichomonas urethritis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination. http://purl.obolibrary.org/obo/DOID_3223 complex regional pain syndrome http://purl.obolibrary.org/obo/DOID_11465 autonomic nervous system disease http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/DOID_11523 obsolete Clostridium perfringens gastroenteritis A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas. http://purl.obolibrary.org/obo/DOID_11503 diabetic autonomic neuropathy http://purl.obolibrary.org/obo/DOID_11504 autonomic neuropathy http://purl.obolibrary.org/obo/DOID_12307 anterior corneal pigmentation http://purl.obolibrary.org/obo/DOID_11547 corneal deposit http://purl.obolibrary.org/obo/DOID_13448 posterior corneal pigmentation http://purl.obolibrary.org/obo/DOID_11547 corneal deposit http://purl.obolibrary.org/obo/DOID_11914 gastroparesis http://purl.obolibrary.org/obo/DOID_1159 functional gastric disease http://purl.obolibrary.org/obo/NCBITaxon_54292 Apodemus flavicollis http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_310911 Amdoparvovirus http://purl.obolibrary.org/obo/NCBITaxon_40119 Parvovirinae http://purl.obolibrary.org/obo/NCBITaxon_40121 Erythroparvovirus http://purl.obolibrary.org/obo/NCBITaxon_40119 Parvovirinae http://purl.obolibrary.org/obo/DOID_11607 obsolete candidal meningitis A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses. http://purl.obolibrary.org/obo/DOID_8439 postgastrectomy syndrome http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/NCBITaxon_157540 Zygodontomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/DOID_11680 obsolete ocular onchocerciasis A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness. http://purl.obolibrary.org/obo/DOID_11594 ring staphyloma http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/NCBITaxon_29120 Oligoryzomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/NCBITaxon_29122 Oryzomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/DOID_11699 obsolete intrathoracic lymph node tuberculosis A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe. http://purl.obolibrary.org/obo/DOID_13787 localized anterior staphyloma http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/DOID_13788 equatorial staphyloma http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/NCBITaxon_42414 Sigmodon http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/DOID_11741 obsolete Chlamydophila pneumoniae pneumonia A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress. http://purl.obolibrary.org/obo/DOID_13789 staphyloma posticum http://purl.obolibrary.org/obo/DOID_11595 scleral staphyloma http://purl.obolibrary.org/obo/NCBITaxon_431037 unclassified Roseolovirus http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/DOID_11892 obsolete Amoebozoa infectious disease A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa. http://purl.obolibrary.org/obo/DOID_12246 histoplasmosis meningitis http://purl.obolibrary.org/obo/DOID_11608 fungal meningitis http://purl.obolibrary.org/obo/NCBITaxon_3050298 Roseolovirus humanbeta7 http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/DOID_11893 obsolete cutaneous amebiasis An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body. http://purl.obolibrary.org/obo/DOID_11839 glans penis cancer http://purl.obolibrary.org/obo/DOID_11615 penile cancer http://purl.obolibrary.org/obo/NCBITaxon_3050297 Roseolovirus humanbeta6b http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/DOID_11896 obsolete Acanthamoeba keratitis A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye. http://purl.obolibrary.org/obo/DOID_11988 conjunctival concretion http://purl.obolibrary.org/obo/DOID_11653 conjunctival deposit http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/DOID_11897 obsolete Blastocystis hominis infectious disease A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence. http://purl.obolibrary.org/obo/DOID_1171 hyperlipoproteinemia type V http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia http://purl.obolibrary.org/obo/NCBITaxon_4070 Solanaceae http://purl.obolibrary.org/obo/NCBITaxon_4069 Solanales http://purl.obolibrary.org/obo/DOID_11902 obsolete cerebral amebiasis An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses. http://purl.obolibrary.org/obo/DOID_1172 hyperlipoproteinemia type IV http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia http://purl.obolibrary.org/obo/NCBITaxon_424551 Solanoideae http://purl.obolibrary.org/obo/NCBITaxon_4070 Solanaceae http://purl.obolibrary.org/obo/DOID_11943 obsolete Trichomonas vaginitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. http://purl.obolibrary.org/obo/DOID_13809 familial combined hyperlipidemia http://purl.obolibrary.org/obo/DOID_1168 familial hyperlipidemia http://purl.obolibrary.org/obo/NCBITaxon_49274 Solanum subgen. Lycopersicon http://purl.obolibrary.org/obo/NCBITaxon_4107 Solanum http://purl.obolibrary.org/obo/DOID_11944 obsolete Trichomonas prostatitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis. http://purl.obolibrary.org/obo/DOID_14535 malignant cardiac germ cell tumor http://purl.obolibrary.org/obo/DOID_117 heart cancer http://purl.obolibrary.org/obo/DOID_11781 regular astigmatism http://purl.obolibrary.org/obo/DOID_11782 astigmatism http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/DOID_11945 obsolete Trichomonas cystitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color. http://purl.obolibrary.org/obo/DOID_11964 obsolete Histoplasma capsulatum retinitis An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions. http://purl.obolibrary.org/obo/DOID_12017 obsolete group B streptococcal pneumonia A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly. http://purl.obolibrary.org/obo/DOID_12019 obsolete group A streptococcal pneumonia A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst. http://purl.obolibrary.org/obo/DOID_13919 irregular astigmatism http://purl.obolibrary.org/obo/DOID_11782 astigmatism http://purl.obolibrary.org/obo/DOID_11829 degenerative myopia http://purl.obolibrary.org/obo/DOID_11830 myopia http://purl.obolibrary.org/obo/NCBITaxon_5597 Scedosporium boydii http://purl.obolibrary.org/obo/NCBITaxon_41687 Scedosporium http://purl.obolibrary.org/obo/DOID_12052 obsolete cryptococcal meningitis A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion. http://purl.obolibrary.org/obo/DOID_10966 lipoid nephrosis http://purl.obolibrary.org/obo/DOID_1184 nephrotic syndrome http://purl.obolibrary.org/obo/NCBITaxon_8006 Salmoniformes http://purl.obolibrary.org/obo/NCBITaxon_41705 Protacanthopterygii http://purl.obolibrary.org/obo/DOID_12054 obsolete Trypanosoma meningitis A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species. http://purl.obolibrary.org/obo/DOID_12526 tarsal tunnel syndrome http://purl.obolibrary.org/obo/DOID_1187 tibial neuropathy http://purl.obolibrary.org/obo/NCBITaxon_36330 Plasmodium ovale http://purl.obolibrary.org/obo/NCBITaxon_418103 Plasmodium http://purl.obolibrary.org/obo/NCBITaxon_5855 Plasmodium vivax http://purl.obolibrary.org/obo/NCBITaxon_418103 Plasmodium http://purl.obolibrary.org/obo/DOID_12115 obsolete streptococcal pharyngitis A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills. http://purl.obolibrary.org/obo/DOID_1187 tibial neuropathy http://purl.obolibrary.org/obo/DOID_1188 mononeuropathy http://purl.obolibrary.org/obo/DOID_12171 radial neuropathy http://purl.obolibrary.org/obo/DOID_1188 mononeuropathy http://purl.obolibrary.org/obo/NCBITaxon_5833 Plasmodium falciparum http://purl.obolibrary.org/obo/NCBITaxon_418107 Laverania http://purl.obolibrary.org/obo/DOID_12133 obsolete Yersinia enterocolitica intestinal infectious disease A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children). http://purl.obolibrary.org/obo/DOID_11888 schwannoma of ureter http://purl.obolibrary.org/obo/DOID_956 peripheral nerve schwannoma http://purl.obolibrary.org/obo/NCBITaxon_43801 Ceratopogoninae http://purl.obolibrary.org/obo/NCBITaxon_41819 Ceratopogonidae http://purl.obolibrary.org/obo/DOID_12141 obsolete adenovirus meningitis An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion. http://purl.obolibrary.org/obo/DOID_13147 fungal esophagitis http://purl.obolibrary.org/obo/DOID_1564 fungal infectious disease http://purl.obolibrary.org/obo/NCBITaxon_7157 Culicidae http://purl.obolibrary.org/obo/NCBITaxon_41827 Culicoidea http://purl.obolibrary.org/obo/DOID_122 obsolete abdominal cancer A cancer by anatomical entitiy that affects the organs in the abdominal cavity. http://purl.obolibrary.org/obo/DOID_13976 peptic esophagitis http://purl.obolibrary.org/obo/DOID_11963 esophagitis http://purl.obolibrary.org/obo/NCBITaxon_41819 Ceratopogonidae http://purl.obolibrary.org/obo/NCBITaxon_41828 Chironomoidea http://purl.obolibrary.org/obo/DOID_1221 obsolete infiltrative lung tuberculosis A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung. http://purl.obolibrary.org/obo/DOID_1742 drug psychosis http://purl.obolibrary.org/obo/DOID_1203 drug-induced mental disorder http://purl.obolibrary.org/obo/NCBITaxon_7197 Psychodidae http://purl.obolibrary.org/obo/NCBITaxon_41831 Psychodoidea http://purl.obolibrary.org/obo/DOID_12210 obsolete Wuchereria bancrofti filariasis A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis. http://purl.obolibrary.org/obo/DOID_12574 posterior uveitis http://purl.obolibrary.org/obo/DOID_12030 panuveitis http://purl.obolibrary.org/obo/NCBITaxon_23513 Rutaceae http://purl.obolibrary.org/obo/NCBITaxon_41937 Sapindales http://purl.obolibrary.org/obo/DOID_12245 obsolete histoplasmosis endocarditis A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. http://purl.obolibrary.org/obo/DOID_1407 anterior uveitis http://purl.obolibrary.org/obo/DOID_12030 panuveitis http://purl.obolibrary.org/obo/NCBITaxon_5819 Haemosporida http://purl.obolibrary.org/obo/NCBITaxon_422676 Aconoidasida http://purl.obolibrary.org/obo/DOID_12252 obsolete Cushing's syndrome An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. http://purl.obolibrary.org/obo/DOID_13329 toxic optic neuropathy http://purl.obolibrary.org/obo/DOID_1210 optic neuritis http://purl.obolibrary.org/obo/NCBITaxon_5863 Piroplasmida http://purl.obolibrary.org/obo/NCBITaxon_422676 Aconoidasida http://purl.obolibrary.org/obo/DOID_12302 obsolete diphtheritic membranous angina A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils. http://purl.obolibrary.org/obo/DOID_14155 acute retrobulbar neuritis http://purl.obolibrary.org/obo/DOID_1210 optic neuritis http://purl.obolibrary.org/obo/NCBITaxon_5809 Sarcocystidae http://purl.obolibrary.org/obo/NCBITaxon_423054 Eimeriorina http://purl.obolibrary.org/obo/DOID_12404 obsolete tinea A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin. http://purl.obolibrary.org/obo/DOID_12162 pseudoretinitis pigmentosa http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/NCBITaxon_35082 Cryptosporidiidae http://purl.obolibrary.org/obo/NCBITaxon_423054 Eimeriorina http://purl.obolibrary.org/obo/DOID_1253 obsolete Enoplea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands. http://purl.obolibrary.org/obo/DOID_12163 senile reticular retinal degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/NCBITaxon_42408 Neotoma albigula http://purl.obolibrary.org/obo/NCBITaxon_42407 Neotoma http://purl.obolibrary.org/obo/DOID_12569 obsolete Chagas cardiomyopathy A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death. http://purl.obolibrary.org/obo/DOID_12164 Blessig's cysts http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/NCBITaxon_134742 Sigmodon alstoni http://purl.obolibrary.org/obo/NCBITaxon_42414 Sigmodon http://purl.obolibrary.org/obo/DOID_12608 obsolete staphylococcal pneumonia A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. http://purl.obolibrary.org/obo/DOID_12165 retinal lattice degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/NCBITaxon_42415 Sigmodon hispidus http://purl.obolibrary.org/obo/NCBITaxon_42414 Sigmodon http://purl.obolibrary.org/obo/DOID_12633 obsolete cervicofacial actinomycosis An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. http://purl.obolibrary.org/obo/DOID_12166 cobblestone retinal degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/NCBITaxon_424574 Solaneae http://purl.obolibrary.org/obo/NCBITaxon_424551 Solanoideae http://purl.obolibrary.org/obo/DOID_12634 obsolete cerebral actinomycosis An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess. http://purl.obolibrary.org/obo/DOID_12167 secondary vitreoretinal degeneration http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/NCBITaxon_4107 Solanum http://purl.obolibrary.org/obo/NCBITaxon_424574 Solaneae http://purl.obolibrary.org/obo/DOID_1265 obsolete genitourinary cancer An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs. http://purl.obolibrary.org/obo/DOID_12170 radial nerve lesion http://purl.obolibrary.org/obo/DOID_12171 radial neuropathy http://purl.obolibrary.org/obo/NCBITaxon_34625 Hyalomma http://purl.obolibrary.org/obo/NCBITaxon_426438 Hyalomminae http://purl.obolibrary.org/obo/NCBITaxon_34622 Haemaphysalis http://purl.obolibrary.org/obo/NCBITaxon_426439 Haemaphysalinae http://purl.obolibrary.org/obo/DOID_12710 obsolete Histoplasma duboisii pneumonia An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. http://purl.obolibrary.org/obo/DOID_12175 dyshormonogenic goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/NCBITaxon_426441 Amblyomminae http://purl.obolibrary.org/obo/DOID_12739 obsolete bronchial tuberculosis A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways. http://purl.obolibrary.org/obo/DOID_13195 nontoxic goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/NCBITaxon_426442 Ixodinae http://purl.obolibrary.org/obo/NCBITaxon_127007 Rhipicephalus pumilio http://purl.obolibrary.org/obo/NCBITaxon_426455 Rhipicephalus http://purl.obolibrary.org/obo/DOID_1275 obsolete Pneumovirus infectious disease A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions. http://purl.obolibrary.org/obo/DOID_13196 lingual goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/NCBITaxon_578835 Rhipicephalus sanguineus group http://purl.obolibrary.org/obo/NCBITaxon_426455 Rhipicephalus http://purl.obolibrary.org/obo/DOID_12763 obsolete classic Kaposi's sarcoma A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet. http://purl.obolibrary.org/obo/DOID_13197 nodular goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/NCBITaxon_10368 Human betaherpesvirus 6 http://purl.obolibrary.org/obo/NCBITaxon_431037 unclassified Roseolovirus http://purl.obolibrary.org/obo/NCBITaxon_5600 Phialophora http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_12765 obsolete peritonsillar abscess A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common. http://purl.obolibrary.org/obo/DOID_13200 substernal goiter http://purl.obolibrary.org/obo/DOID_12176 goiter http://purl.obolibrary.org/obo/NCBITaxon_66225 Phaeoannellomyces http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_12773 obsolete endemic African Kaposi's sarcoma A Kaposi's sarcoma that is located_in black Africans. http://purl.obolibrary.org/obo/DOID_12191 splenic flexure cancer http://purl.obolibrary.org/obo/DOID_12190 descending colon cancer http://purl.obolibrary.org/obo/NCBITaxon_5583 Exophiala http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_12779 obsolete recurrent Kaposi's sarcoma A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes. http://purl.obolibrary.org/obo/DOID_11245 transient neonatal neutropenia http://purl.obolibrary.org/obo/DOID_1227 neutropenia http://purl.obolibrary.org/obo/NCBITaxon_5587 Rhinocladiella http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_12819 obsolete Clostridium difficile intestinal infectious disease A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain. http://purl.obolibrary.org/obo/DOID_12325 kyphoscoliotic heart disease http://purl.obolibrary.org/obo/DOID_12326 chronic pulmonary heart disease http://purl.obolibrary.org/obo/NCBITaxon_82105 Cladophialophora http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_12840 obsolete Ancylostoma ceylanicum ancylostomiasis An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine. http://purl.obolibrary.org/obo/DOID_14096 infertility due to extratesticular cause http://purl.obolibrary.org/obo/DOID_12336 male infertility http://purl.obolibrary.org/obo/NCBITaxon_40354 Fonsecaea http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/DOID_12888 obsolete Chlamydophila psittaci pneumonia An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum. http://purl.obolibrary.org/obo/DOID_1233 transvestism http://purl.obolibrary.org/obo/DOID_1235 fetishism http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/DOID_1301 obsolete RNA virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material. http://purl.obolibrary.org/obo/DOID_12362 thyrotoxic exophthalmos http://purl.obolibrary.org/obo/DOID_12359 endocrine exophthalmos http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/DOID_13019 obsolete cryptococcal gastroenteritis A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain. http://purl.obolibrary.org/obo/DOID_11164 band keratopathy http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/DOID_13020 obsolete pulmonary cryptococcosis A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing. http://purl.obolibrary.org/obo/DOID_11267 keratomalacia http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/DOID_11342 arcus senilis http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_13021 obsolete AIDS-related cryptococcosis A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV. http://purl.obolibrary.org/obo/NCBITaxon_480118 Eremoneura http://purl.obolibrary.org/obo/NCBITaxon_43733 Muscomorpha http://purl.obolibrary.org/obo/DOID_11541 recurrent corneal erosion http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_13032 obsolete Trichomonas balanoposthitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin. http://purl.obolibrary.org/obo/DOID_13047 obsolete Ancylostoma braziliense ancylostomiasis An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions. http://purl.obolibrary.org/obo/NCBITaxon_1262365 Tabanoidea http://purl.obolibrary.org/obo/NCBITaxon_43735 Tabanomorpha http://purl.obolibrary.org/obo/DOID_11793 phthisical cornea http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_13049 obsolete Ancylostoma duodenale ancylostomiasis An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia. http://purl.obolibrary.org/obo/NCBITaxon_43741 Acalyptratae http://purl.obolibrary.org/obo/NCBITaxon_43738 Schizophora http://purl.obolibrary.org/obo/DOID_14507 peripheral degeneration of cornea http://purl.obolibrary.org/obo/DOID_1237 corneal degeneration http://purl.obolibrary.org/obo/DOID_1305 obsolete AIDS dementia complex A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. http://purl.obolibrary.org/obo/NCBITaxon_43750 Sciomyzoidea http://purl.obolibrary.org/obo/NCBITaxon_43741 Acalyptratae http://purl.obolibrary.org/obo/DOID_12395 spastic entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/DOID_1306 obsolete HIV encephalopathy An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change. http://purl.obolibrary.org/obo/NCBITaxon_169440 Coelopidae http://purl.obolibrary.org/obo/NCBITaxon_43750 Sciomyzoidea http://purl.obolibrary.org/obo/DOID_12836 senile entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/DOID_13076 obsolete abdominal actinomycosis An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation. http://purl.obolibrary.org/obo/NCBITaxon_41827 Culicoidea http://purl.obolibrary.org/obo/NCBITaxon_43786 Culicomorpha http://purl.obolibrary.org/obo/DOID_13112 mechanical entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/DOID_13077 obsolete cutaneous actinomycosis An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules. http://purl.obolibrary.org/obo/NCBITaxon_41828 Chironomoidea http://purl.obolibrary.org/obo/NCBITaxon_43786 Culicomorpha http://purl.obolibrary.org/obo/DOID_13113 cicatricial entropion http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/DOID_1308 obsolete AIDS related complex A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss. http://purl.obolibrary.org/obo/NCBITaxon_41831 Psychodoidea http://purl.obolibrary.org/obo/NCBITaxon_43787 Psychodomorpha http://purl.obolibrary.org/obo/DOID_1241 luxation of globe http://purl.obolibrary.org/obo/DOID_1242 globe disease http://purl.obolibrary.org/obo/DOID_1311 obsolete HIV-associated nephropathy A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (greater than 3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. http://purl.obolibrary.org/obo/NCBITaxon_58262 Culicoidini http://purl.obolibrary.org/obo/NCBITaxon_43801 Ceratopogoninae http://purl.obolibrary.org/obo/DOID_1313 obsolete HIV wasting syndrome An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. http://purl.obolibrary.org/obo/DOID_14070 vestibular nystagmus http://purl.obolibrary.org/obo/DOID_1242 globe disease http://purl.obolibrary.org/obo/DOID_13149 obsolete tuberculous lung fibrosis A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred). http://purl.obolibrary.org/obo/NCBITaxon_1056966 Aedini http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/DOID_14199 posterior dislocation of lens http://purl.obolibrary.org/obo/DOID_1242 globe disease http://purl.obolibrary.org/obo/DOID_13164 obsolete Bordetella pertussis pneumonia A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing. http://purl.obolibrary.org/obo/NCBITaxon_53549 Sabethini http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/DOID_12465 secondary hyperparathyroidism of renal origin http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_13165 obsolete Aspergillus pneumonia An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever. http://purl.obolibrary.org/obo/NCBITaxon_53550 Culicini http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/DOID_2213 hemorrhagic disease http://purl.obolibrary.org/obo/DOID_1247 blood coagulation disease http://purl.obolibrary.org/obo/DOID_13251 obsolete HIV enteropathy A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12. http://purl.obolibrary.org/obo/NCBITaxon_59848 Chrysopsini http://purl.obolibrary.org/obo/NCBITaxon_43920 Chrysopsinae http://purl.obolibrary.org/obo/DOID_11446 sciatic neuropathy http://purl.obolibrary.org/obo/DOID_12528 lesion of sciatic nerve http://purl.obolibrary.org/obo/NCBITaxon_4753 Pneumocystis http://purl.obolibrary.org/obo/NCBITaxon_44281 Pneumocystaceae http://purl.obolibrary.org/obo/DOID_13257 obsolete Histoplasma duboisii endocarditis An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. http://purl.obolibrary.org/obo/DOID_1829 urethral stricture http://purl.obolibrary.org/obo/DOID_12577 urethral obstruction http://purl.obolibrary.org/obo/NCBITaxon_445 Legionella http://purl.obolibrary.org/obo/NCBITaxon_444 Legionellaceae http://purl.obolibrary.org/obo/DOID_13273 obsolete Escherichia coli pneumonia A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages. http://purl.obolibrary.org/obo/DOID_14099 acquired gastric outlet stenosis http://purl.obolibrary.org/obo/DOID_12639 pyloric stenosis http://purl.obolibrary.org/obo/NCBITaxon_1437197 Petrosaviidae http://purl.obolibrary.org/obo/NCBITaxon_4447 Liliopsida http://purl.obolibrary.org/obo/DOID_13274 obsolete enzootic pneumonia of calves A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms. http://purl.obolibrary.org/obo/DOID_12641 displacement of cardia through esophageal hiatus http://purl.obolibrary.org/obo/DOID_12642 hiatus hernia http://purl.obolibrary.org/obo/NCBITaxon_446 Legionella pneumophila http://purl.obolibrary.org/obo/NCBITaxon_445 Legionella http://purl.obolibrary.org/obo/DOID_13275 obsolete rickettsial pneumonia A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema. http://purl.obolibrary.org/obo/DOID_12668 abnormal retinal correspondence http://purl.obolibrary.org/obo/DOID_12667 binocular vision disease http://purl.obolibrary.org/obo/DOID_1278 tolosa-hunt syndrome http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/NCBITaxon_44537 Pyretophorus http://purl.obolibrary.org/obo/NCBITaxon_44534 Cellia http://purl.obolibrary.org/obo/DOID_13277 obsolete Mycoplasma hyopneumoniae pneumonia A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough. http://purl.obolibrary.org/obo/DOID_539 ophthalmoplegia http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/NCBITaxon_59140 Myzomyia http://purl.obolibrary.org/obo/NCBITaxon_44534 Cellia http://purl.obolibrary.org/obo/DOID_13278 obsolete Salmonella pneumonia A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation. http://purl.obolibrary.org/obo/DOID_9650 pathologic nystagmus http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/NCBITaxon_44542 gambiae species complex http://purl.obolibrary.org/obo/NCBITaxon_44537 Pyretophorus http://purl.obolibrary.org/obo/DOID_13285 obsolete enteroinvasive Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever. http://purl.obolibrary.org/obo/DOID_13662 ulcer of anus and rectum http://purl.obolibrary.org/obo/DOID_1285 rectal disease http://purl.obolibrary.org/obo/NCBITaxon_7165 Anopheles gambiae http://purl.obolibrary.org/obo/NCBITaxon_44542 gambiae species complex http://purl.obolibrary.org/obo/DOID_13305 obsolete anterior nasal diphtheria A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy. http://purl.obolibrary.org/obo/DOID_14483 chorea gravidarum http://purl.obolibrary.org/obo/DOID_12859 choreatic disease http://purl.obolibrary.org/obo/NCBITaxon_29031 Phlebotomus papatasi http://purl.obolibrary.org/obo/NCBITaxon_44556 Phlebotomus http://purl.obolibrary.org/obo/DOID_13307 obsolete pseudomembranous diphtheritic conjunctivitis A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane. http://purl.obolibrary.org/obo/DOID_12707 myoclonic cerebellar dyssynergia http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease http://purl.obolibrary.org/obo/NCBITaxon_447135 Myodes glareolus http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/DOID_13308 obsolete diphtheritic myocarditis A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae. http://purl.obolibrary.org/obo/DOID_13548 secondary Parkinson disease http://purl.obolibrary.org/obo/DOID_1289 neurodegenerative disease http://purl.obolibrary.org/obo/NCBITaxon_359160 BOP clade http://purl.obolibrary.org/obo/NCBITaxon_4479 Poaceae http://purl.obolibrary.org/obo/DOID_13309 obsolete nasopharyngeal diphtheria A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic bullneck apprearance. http://purl.obolibrary.org/obo/DOID_12958 paralytic lagophthalmos http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/DOID_1332 obsolete Bunyaviridae infectious disease A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors. http://purl.obolibrary.org/obo/DOID_13037 mechanical lagophthalmos http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/NCBITaxon_5204 Basidiomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/DOID_1333 obsolete african horse sickness A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue. http://purl.obolibrary.org/obo/DOID_13038 cicatricial lagophthalmos http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/NCBITaxon_147553 Pneumocystomycetes http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/DOID_13335 obsolete Toxoplasma hepatitis A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice. http://purl.obolibrary.org/obo/DOID_1227 neutropenia http://purl.obolibrary.org/obo/DOID_12987 agranulocytosis http://purl.obolibrary.org/obo/NCBITaxon_134362 Capnodiales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/DOID_13338 obsolete Toxoplasma myocarditis A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain. http://purl.obolibrary.org/obo/DOID_13139 crescentic glomerulonephritis http://purl.obolibrary.org/obo/DOID_13138 acute proliferative glomerulonephritis http://purl.obolibrary.org/obo/NCBITaxon_5014 Dothideales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/DOID_1334 obsolete Reoviridae infectious disease A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses. http://purl.obolibrary.org/obo/DOID_12732 intermediate uveitis http://purl.obolibrary.org/obo/DOID_13141 uveitis http://purl.obolibrary.org/obo/NCBITaxon_2726946 Cladosporiales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/DOID_13342 obsolete Toxoplasma pneumonia A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales. http://purl.obolibrary.org/obo/DOID_13239 internal pathological resorption http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/NCBITaxon_2726947 Mycosphaerellales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/DOID_13343 obsolete ocular toxoplasmosis A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness. http://purl.obolibrary.org/obo/DOID_14529 external pathological resorption http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/DOID_14550 root resorption http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/NCBITaxon_92860 Pleosporales http://purl.obolibrary.org/obo/NCBITaxon_451868 Pleosporomycetidae http://purl.obolibrary.org/obo/DOID_1335 obsolete bluetongue A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue. http://purl.obolibrary.org/obo/DOID_13271 cutaneous porphyria http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/NCBITaxon_34395 Chaetothyriales http://purl.obolibrary.org/obo/NCBITaxon_451870 Chaetothyriomycetidae http://purl.obolibrary.org/obo/DOID_1336 obsolete Nairobi sheep disease A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration. http://purl.obolibrary.org/obo/DOID_13909 red-green color blindness http://purl.obolibrary.org/obo/DOID_13399 color blindness http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/NCBITaxon_451871 Eurotiomycetidae http://purl.obolibrary.org/obo/DOID_13459 obsolete secondary syphilitic hepatitis A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions. http://purl.obolibrary.org/obo/DOID_13910 red color blindness http://purl.obolibrary.org/obo/DOID_13399 color blindness http://purl.obolibrary.org/obo/NCBITaxon_5042 Eurotiales http://purl.obolibrary.org/obo/NCBITaxon_451871 Eurotiomycetidae http://purl.obolibrary.org/obo/DOID_13470 obsolete primary anal syphilis A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum. http://purl.obolibrary.org/obo/DOID_13912 acquired color blindness http://purl.obolibrary.org/obo/DOID_13399 color blindness http://purl.obolibrary.org/obo/NCBITaxon_5498 Cladosporium http://purl.obolibrary.org/obo/NCBITaxon_452563 Cladosporiaceae http://purl.obolibrary.org/obo/NCBITaxon_12058 Picornaviridae http://purl.obolibrary.org/obo/NCBITaxon_464095 Picornavirales http://purl.obolibrary.org/obo/NCBITaxon_38820 Poales http://purl.obolibrary.org/obo/NCBITaxon_4734 commelinids http://purl.obolibrary.org/obo/DOID_13526 obsolete candidal endocarditis A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly. http://purl.obolibrary.org/obo/DOID_12055 sarcoid meningitis http://purl.obolibrary.org/obo/DOID_13403 neurosarcoidosis http://purl.obolibrary.org/obo/NCBITaxon_42068 Pneumocystis jirovecii http://purl.obolibrary.org/obo/NCBITaxon_4753 Pneumocystis http://purl.obolibrary.org/obo/DOID_13527 obsolete candidal otitis externa A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis. http://purl.obolibrary.org/obo/DOID_12550 hepatic coma http://purl.obolibrary.org/obo/DOID_13413 hepatic encephalopathy http://purl.obolibrary.org/obo/NCBITaxon_163158 Xenopsylla http://purl.obolibrary.org/obo/NCBITaxon_476427 Xenopsyllinae http://purl.obolibrary.org/obo/DOID_13528 obsolete candidal enteritis A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration. http://purl.obolibrary.org/obo/DOID_13676 posterior scleritis http://purl.obolibrary.org/obo/DOID_13452 scleritis http://purl.obolibrary.org/obo/NCBITaxon_43738 Schizophora http://purl.obolibrary.org/obo/NCBITaxon_480117 Cyclorrhapha http://purl.obolibrary.org/obo/DOID_13601 obsolete enteropathogenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea. http://purl.obolibrary.org/obo/DOID_13794 anterior scleritis http://purl.obolibrary.org/obo/DOID_13452 scleritis http://purl.obolibrary.org/obo/NCBITaxon_480117 Cyclorrhapha http://purl.obolibrary.org/obo/NCBITaxon_480118 Eremoneura http://purl.obolibrary.org/obo/DOID_13623 obsolete staphylococcal enterocolitis A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea. http://purl.obolibrary.org/obo/DOID_1358 maxillary sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/NCBITaxon_482 Neisseria http://purl.obolibrary.org/obo/NCBITaxon_481 Neisseriaceae http://purl.obolibrary.org/obo/DOID_13663 obsolete acute suppurative otitis media with tympanic membrane intact A purulent acute otitis media with no perforation of the tympanic membrane. http://purl.obolibrary.org/obo/DOID_1361 frontal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/NCBITaxon_4081 Solanum lycopersicum http://purl.obolibrary.org/obo/NCBITaxon_49274 Solanum subgen. Lycopersicon http://purl.obolibrary.org/obo/DOID_13720 obsolete Schistosoma mattheei infectious disease A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei. http://purl.obolibrary.org/obo/DOID_1364 ethmoidal sinus benign neoplasm http://purl.obolibrary.org/obo/DOID_1350 paranasal sinus benign neoplasm http://purl.obolibrary.org/obo/NCBITaxon_1570301 Saccotheciaceae http://purl.obolibrary.org/obo/NCBITaxon_5014 Dothideales http://purl.obolibrary.org/obo/DOID_13723 obsolete Schistosoma bovis infectious disease A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis. http://purl.obolibrary.org/obo/DOID_12466 secondary hyperparathyroidism http://purl.obolibrary.org/obo/DOID_13543 hyperparathyroidism http://purl.obolibrary.org/obo/NCBITaxon_28568 Trichocomaceae http://purl.obolibrary.org/obo/NCBITaxon_5042 Eurotiales http://purl.obolibrary.org/obo/DOID_13734 obsolete AIDS-related Pneumocystis jirovecii pneumonia A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV. http://purl.obolibrary.org/obo/DOID_13575 non-renal secondary hyperparathyroidism http://purl.obolibrary.org/obo/DOID_13543 hyperparathyroidism http://purl.obolibrary.org/obo/NCBITaxon_1131492 Aspergillaceae http://purl.obolibrary.org/obo/NCBITaxon_5042 Eurotiales http://purl.obolibrary.org/obo/DOID_13753 obsolete Histoplasma duboisii meningitis An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. http://purl.obolibrary.org/obo/DOID_14332 postencephalitic Parkinson disease http://purl.obolibrary.org/obo/DOID_13548 secondary Parkinson disease http://purl.obolibrary.org/obo/NCBITaxon_8016 Oncorhynchus http://purl.obolibrary.org/obo/NCBITaxon_504568 Salmoninae http://purl.obolibrary.org/obo/DOID_13754 obsolete Histoplasma capsulatum meningitis An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. http://purl.obolibrary.org/obo/DOID_13756 epiphora due to insufficient drainage http://purl.obolibrary.org/obo/DOID_13757 excessive tearing http://purl.obolibrary.org/obo/NCBITaxon_8028 Salmo http://purl.obolibrary.org/obo/NCBITaxon_504568 Salmoninae http://purl.obolibrary.org/obo/DOID_13755 obsolete Histoplasma duboisii pericarditis An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. http://purl.obolibrary.org/obo/DOID_14244 epiphora due to excess lacrimation http://purl.obolibrary.org/obo/DOID_13757 excessive tearing http://purl.obolibrary.org/obo/NCBITaxon_85512 Dicondylia http://purl.obolibrary.org/obo/NCBITaxon_50557 Insecta http://purl.obolibrary.org/obo/NCBITaxon_517 Bordetella http://purl.obolibrary.org/obo/NCBITaxon_506 Alcaligenaceae http://purl.obolibrary.org/obo/DOID_13762 obsolete bovine trypanosomiasis A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss. http://purl.obolibrary.org/obo/DOID_2664 sweat gland benign neoplasm http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/NCBITaxon_2752537 Talaromyces sect. Talaromyces http://purl.obolibrary.org/obo/NCBITaxon_5094 Talaromyces http://purl.obolibrary.org/obo/NCBITaxon_809 Chlamydiaceae http://purl.obolibrary.org/obo/NCBITaxon_51291 Chlamydiales http://purl.obolibrary.org/obo/DOID_13763 obsolete dourine A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs. http://purl.obolibrary.org/obo/DOID_1391 Norum disease http://purl.obolibrary.org/obo/DOID_1387 hypolipoproteinemia http://purl.obolibrary.org/obo/NCBITaxon_5152 Ophiostomataceae http://purl.obolibrary.org/obo/NCBITaxon_5151 Ophiostomatales http://purl.obolibrary.org/obo/DOID_10593 idiopathic progressive polyneuropathy http://purl.obolibrary.org/obo/DOID_1389 polyneuropathy http://purl.obolibrary.org/obo/DOID_13979 obsolete primary pulmonary coccidioidomycosis A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules. http://purl.obolibrary.org/obo/NCBITaxon_29907 Sporothrix http://purl.obolibrary.org/obo/NCBITaxon_5152 Ophiostomataceae http://purl.obolibrary.org/obo/DOID_13649 polyneuropathy in collagen vascular disease http://purl.obolibrary.org/obo/DOID_1389 polyneuropathy http://purl.obolibrary.org/obo/DOID_13980 obsolete coccidioidal meningitis A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus. http://purl.obolibrary.org/obo/NCBITaxon_519 Bordetella parapertussis http://purl.obolibrary.org/obo/NCBITaxon_517 Bordetella http://purl.obolibrary.org/obo/DOID_11975 coloboma of optic nerve http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/DOID_14311 obsolete Norovirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever. http://purl.obolibrary.org/obo/NCBITaxon_520 Bordetella pertussis http://purl.obolibrary.org/obo/NCBITaxon_517 Bordetella http://purl.obolibrary.org/obo/DOID_13295 crater-like holes of optic disc http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/DOID_14326 obsolete avian malaria A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia. http://purl.obolibrary.org/obo/NCBITaxon_5302 Agaricomycotina http://purl.obolibrary.org/obo/NCBITaxon_5204 Basidiomycota http://purl.obolibrary.org/obo/DOID_1392 pseudopapilledema http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/DOID_14338 obsolete Pseudomonal pneumonia A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias. http://purl.obolibrary.org/obo/NCBITaxon_452284 Ustilaginomycotina http://purl.obolibrary.org/obo/NCBITaxon_5204 Basidiomycota http://purl.obolibrary.org/obo/NCBITaxon_526525 Erysipelotrichales http://purl.obolibrary.org/obo/NCBITaxon_526524 Erysipelotrichia http://purl.obolibrary.org/obo/NCBITaxon_128827 Erysipelotrichaceae http://purl.obolibrary.org/obo/NCBITaxon_526525 Erysipelotrichales http://purl.obolibrary.org/obo/DOID_5691 visual cortex disease http://purl.obolibrary.org/obo/DOID_1393 visual pathway disease http://purl.obolibrary.org/obo/DOID_14360 obsolete Opisthorchis viverrini infectious disease A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. http://purl.obolibrary.org/obo/DOID_14419 obsolete Mansonella ozzardi infectious disease A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease. http://purl.obolibrary.org/obo/NCBITaxon_155616 Tremellomycetes http://purl.obolibrary.org/obo/NCBITaxon_5302 Agaricomycotina http://purl.obolibrary.org/obo/DOID_10499 orbital granuloma http://purl.obolibrary.org/obo/DOID_1397 chronic orbital inflammation http://purl.obolibrary.org/obo/DOID_14421 obsolete Brugia malayi filariasis A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection. http://purl.obolibrary.org/obo/NCBITaxon_162997 Culex annulirostris http://purl.obolibrary.org/obo/NCBITaxon_53527 Culex http://purl.obolibrary.org/obo/DOID_11134 prolapse of lacrimal gland http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/NCBITaxon_7178 Culex tritaeniorhynchus http://purl.obolibrary.org/obo/NCBITaxon_53527 Culex http://purl.obolibrary.org/obo/DOID_14433 obsolete enterohemorrhagic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge. http://purl.obolibrary.org/obo/NCBITaxon_7174 Culex http://purl.obolibrary.org/obo/NCBITaxon_53550 Culicini http://purl.obolibrary.org/obo/DOID_13651 eversion of lacrimal punctum http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/DOID_14434 obsolete enterotoxigenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever. http://purl.obolibrary.org/obo/DOID_13653 stenosis of lacrimal punctum http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/NCBITaxon_570 Klebsiella http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_590 Salmonella http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/DOID_14473 obsolete adenovirus pneumonia An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells. http://purl.obolibrary.org/obo/DOID_13654 stenosis of lacrimal passage http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/NCBITaxon_548681 Herpesvirales http://purl.obolibrary.org/obo/DOID_14474 obsolete respiratory syncytial virus pneumonia A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium. http://purl.obolibrary.org/obo/DOID_13655 acquired tear duct stenosis http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/NCBITaxon_5501 Coccidioides immitis http://purl.obolibrary.org/obo/NCBITaxon_5500 Coccidioides http://purl.obolibrary.org/obo/DOID_14475 obsolete parainfluenzal pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever. http://purl.obolibrary.org/obo/DOID_13757 excessive tearing http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/NCBITaxon_5970 Exophiala dermatitidis http://purl.obolibrary.org/obo/NCBITaxon_5583 Exophiala http://purl.obolibrary.org/obo/DOID_14476 obsolete SARS coronavirus pneumonia A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure. http://purl.obolibrary.org/obo/DOID_13929 lacrimal duct obstruction http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/NCBITaxon_86056 Rhinocladiella mackenziei http://purl.obolibrary.org/obo/NCBITaxon_5587 Rhinocladiella http://purl.obolibrary.org/obo/NCBITaxon_5593 Microascaceae http://purl.obolibrary.org/obo/NCBITaxon_5592 Microascales http://purl.obolibrary.org/obo/DOID_14477 obsolete Cytomegalovirus pneumonia A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies. http://purl.obolibrary.org/obo/DOID_1399 primary lacrimal atrophy http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/NCBITaxon_41687 Scedosporium http://purl.obolibrary.org/obo/NCBITaxon_5593 Microascaceae http://purl.obolibrary.org/obo/DOID_14520 obsolete adenovirus gastroenteritis An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever. http://purl.obolibrary.org/obo/DOID_950 dacryoadenitis http://purl.obolibrary.org/obo/DOID_1400 lacrimal apparatus disease http://purl.obolibrary.org/obo/NCBITaxon_2704647 Metakinetoplastina http://purl.obolibrary.org/obo/NCBITaxon_5653 Kinetoplastea http://purl.obolibrary.org/obo/DOID_1492 obsolete eye and adnexa disease A sensory system disease that is located_in the eye or the adnexa of the eye. http://purl.obolibrary.org/obo/DOID_1404 residual stage angle-closure glaucoma http://purl.obolibrary.org/obo/DOID_1405 primary angle-closure glaucoma http://purl.obolibrary.org/obo/NCBITaxon_1286322 Leishmaniinae http://purl.obolibrary.org/obo/NCBITaxon_5654 Trypanosomatidae http://purl.obolibrary.org/obo/DOID_153 obsolete fibroepithelial neoplasm A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue. http://purl.obolibrary.org/obo/DOID_157 obsolete epithelial carcinoma A carcinoma that derives_from the cells that line an organ. http://purl.obolibrary.org/obo/DOID_9383 iridocyclitis http://purl.obolibrary.org/obo/DOID_1407 anterior uveitis http://purl.obolibrary.org/obo/NCBITaxon_3390273 Klebsiella pneumoniae complex http://purl.obolibrary.org/obo/NCBITaxon_570 Klebsiella http://purl.obolibrary.org/obo/DOID_1665 obsolete central nervous system embryonal cancer An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord. http://purl.obolibrary.org/obo/DOID_1730 obsolete histoplasmosis pneumonia A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. http://purl.obolibrary.org/obo/DOID_14145 malignant anus melanoma http://purl.obolibrary.org/obo/DOID_1909 melanoma http://purl.obolibrary.org/obo/NCBITaxon_34632 Rhipicephalus sanguineus http://purl.obolibrary.org/obo/NCBITaxon_578835 Rhipicephalus sanguineus group http://purl.obolibrary.org/obo/DOID_1734 obsolete viral gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting. http://purl.obolibrary.org/obo/DOID_11406 choroiditis http://purl.obolibrary.org/obo/DOID_1417 choroid disease http://purl.obolibrary.org/obo/NCBITaxon_1280412 Conoidasida http://purl.obolibrary.org/obo/NCBITaxon_5794 Apicomplexa http://purl.obolibrary.org/obo/DOID_338 obsolete cranial nerve neoplasm A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. http://purl.obolibrary.org/obo/DOID_12759 choroid cancer http://purl.obolibrary.org/obo/DOID_3479 uveal cancer http://purl.obolibrary.org/obo/NCBITaxon_422676 Aconoidasida http://purl.obolibrary.org/obo/NCBITaxon_5794 Apicomplexa http://purl.obolibrary.org/obo/DOID_4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/DOID_1415 gyrate atrophy http://purl.obolibrary.org/obo/DOID_1417 choroid disease http://purl.obolibrary.org/obo/NCBITaxon_75739 Eucoccidiorida http://purl.obolibrary.org/obo/NCBITaxon_5796 Coccidia http://purl.obolibrary.org/obo/HP_0003674 onset The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/DOID_11885 ureteral benign neoplasm http://purl.obolibrary.org/obo/DOID_731 urinary system benign neoplasm http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/DOID_0111372 obsolete autosomal dominant endosteal hyperostosis An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_1425 pyoureter http://purl.obolibrary.org/obo/DOID_1426 ureteral disease http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/DOID_0051079 obsolete monogenic chronic kidney disease A chronic kidney disease that has_material_basis_in a mutation in a single gene. http://purl.obolibrary.org/obo/DOID_13656 gastrin secretion abnormality http://purl.obolibrary.org/obo/DOID_1428 endocrine pancreas disease http://purl.obolibrary.org/obo/NCBITaxon_5810 Toxoplasma http://purl.obolibrary.org/obo/NCBITaxon_5809 Sarcocystidae http://purl.obolibrary.org/obo/SYMP_0000462 symptom A symptom is a perceived change in function, sensation, loss, disturbance or appearance reported by a patient indicative of a disease. http://purl.obolibrary.org/obo/DOID_14427 abnormality of glucagon secretion http://purl.obolibrary.org/obo/DOID_1428 endocrine pancreas disease http://purl.obolibrary.org/obo/NCBITaxon_1639119 Plasmodiidae http://purl.obolibrary.org/obo/NCBITaxon_5819 Haemosporida http://purl.obolibrary.org/obo/TRANS_0000000 transmission process A process that is the means during which the pathogen is transmitted directly or indirectly from its natural reservoir, a susceptible host or source to a new host. http://purl.obolibrary.org/obo/DOID_10742 cerebral lipidosis http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration http://purl.obolibrary.org/obo/NCBITaxon_41820 Culicoides http://purl.obolibrary.org/obo/NCBITaxon_58262 Culicoidini http://purl.obolibrary.org/obo/DOID_0111201 obsolete distal hereditary motor neuronopathy type 7A A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. http://purl.obolibrary.org/obo/DOID_14524 senile degeneration of brain http://purl.obolibrary.org/obo/DOID_1443 cerebral degeneration http://purl.obolibrary.org/obo/NCBITaxon_59142 funestus group http://purl.obolibrary.org/obo/NCBITaxon_59140 Myzomyia http://purl.obolibrary.org/obo/DOID_14111 median rhomboid glossitis http://purl.obolibrary.org/obo/DOID_1456 glossitis http://purl.obolibrary.org/obo/DOID_0111204 obsolete distal hereditary motor neuronopathy type 5A A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3. http://purl.obolibrary.org/obo/NCBITaxon_62324 Anopheles funestus http://purl.obolibrary.org/obo/NCBITaxon_59142 funestus group http://purl.obolibrary.org/obo/DOID_1453 atrophic glossitis http://purl.obolibrary.org/obo/DOID_1456 glossitis http://purl.obolibrary.org/obo/DOID_0111208 obsolete distal hereditary motor neuronopathy type 2A A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23. http://purl.obolibrary.org/obo/NCBITaxon_36734 Unikaryonidae http://purl.obolibrary.org/obo/NCBITaxon_6032 Apansporoblastina http://purl.obolibrary.org/obo/DOID_11633 thyroid hormone resistance syndrome http://purl.obolibrary.org/obo/DOID_1459 hypothyroidism http://purl.obolibrary.org/obo/DOID_0090121 obsolete apparent mineralocorticoid excess An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/DOID_11634 myxedema http://purl.obolibrary.org/obo/DOID_1459 hypothyroidism http://purl.obolibrary.org/obo/DOID_0070075 obsolete Kleefstra Syndrome An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/NCBITaxon_147100 Rhabditophora http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/DOID_1458 postsurgical hypothyroidism http://purl.obolibrary.org/obo/DOID_1459 hypothyroidism http://purl.obolibrary.org/obo/DOID_0070076 obsolete Koolen-De Vries syndrome An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/NCBITaxon_6200 Eucestoda http://purl.obolibrary.org/obo/NCBITaxon_6199 Cestoda http://purl.obolibrary.org/obo/DOID_14555 Foster-Kennedy syndrome http://purl.obolibrary.org/obo/DOID_146 papilledema http://purl.obolibrary.org/obo/DOID_0070101 obsolete Noonan syndrome 1 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13. http://purl.obolibrary.org/obo/NCBITaxon_621 Shigella boydii http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/NCBITaxon_622 Shigella dysenteriae http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/DOID_14121 blue toe syndrome http://purl.obolibrary.org/obo/DOID_1461 cholesterol embolism http://purl.obolibrary.org/obo/DOID_0070102 obsolete Noonan syndrome 2 A Noonan syndrome that has_material_basis_in an autosomal recessive mutation. http://purl.obolibrary.org/obo/DOID_0070103 obsolete Noonan syndrome 3 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1. http://purl.obolibrary.org/obo/NCBITaxon_623 Shigella flexneri http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/DOID_1460 atheroembolism of kidney http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_13943 acute gonococcal prostatitis http://purl.obolibrary.org/obo/DOID_14654 prostatitis http://purl.obolibrary.org/obo/DOID_0070104 obsolete Noonan syndrome 4 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1. http://purl.obolibrary.org/obo/DOID_0070105 obsolete Noonan syndrome 5 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2. http://purl.obolibrary.org/obo/NCBITaxon_624 Shigella sonnei http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/DOID_1134 gingival recession http://purl.obolibrary.org/obo/DOID_1483 gingival disease http://purl.obolibrary.org/obo/DOID_0070106 obsolete Noonan syndrome 6 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2. http://purl.obolibrary.org/obo/NCBITaxon_6201 Cyclophyllidea http://purl.obolibrary.org/obo/NCBITaxon_6200 Eucestoda http://purl.obolibrary.org/obo/DOID_3086 gingival overgrowth http://purl.obolibrary.org/obo/DOID_1483 gingival disease http://purl.obolibrary.org/obo/DOID_0070107 obsolete Noonan syndrome 7 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34. http://purl.obolibrary.org/obo/NCBITaxon_1224679 Diphyllobothriidea http://purl.obolibrary.org/obo/NCBITaxon_6200 Eucestoda http://purl.obolibrary.org/obo/DOID_3087 gingivitis http://purl.obolibrary.org/obo/DOID_1483 gingival disease http://purl.obolibrary.org/obo/NCBITaxon_6208 Taeniidae http://purl.obolibrary.org/obo/NCBITaxon_6201 Cyclophyllidea http://purl.obolibrary.org/obo/DOID_0070108 obsolete Noonan syndrome 8 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_1525 nodular nonsuppurative panniculitis http://purl.obolibrary.org/obo/DOID_1526 panniculitis http://purl.obolibrary.org/obo/NCBITaxon_6204 Taenia solium http://purl.obolibrary.org/obo/NCBITaxon_6202 Taenia http://purl.obolibrary.org/obo/DOID_0070109 obsolete Noonan syndrome 9 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3. http://purl.obolibrary.org/obo/DOID_11615 penile cancer http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/NCBITaxon_6206 Taenia saginata http://purl.obolibrary.org/obo/NCBITaxon_6202 Taenia http://purl.obolibrary.org/obo/DOID_0070110 obsolete Noonan syndrome 10 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_0081119 obsolete benign familial infantile seizures 6 A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_13031 balanoposthitis http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/NCBITaxon_6202 Taenia http://purl.obolibrary.org/obo/NCBITaxon_6208 Taeniidae http://purl.obolibrary.org/obo/DOID_0081376 obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. http://purl.obolibrary.org/obo/DOID_13033 balanitis http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/NCBITaxon_6209 Echinococcus http://purl.obolibrary.org/obo/NCBITaxon_6208 Taeniidae http://purl.obolibrary.org/obo/ECO_0000000 evidence A type of information that is used to support an assertion. http://purl.obolibrary.org/obo/DOID_12782 cicatricial ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/DOID_13356 senile ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/NCBITaxon_119088 Enoplea http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_119089 Chromadorea http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/DOID_0070190 obsolete autosomal dominant chronic granulomatous disease A chronic granulomatous disease characterized by autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_1569 mechanical ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/NCBITaxon_33256 Ascaridoidea http://purl.obolibrary.org/obo/NCBITaxon_6249 Ascaridomorpha http://purl.obolibrary.org/obo/DOID_0070312 obsolete Peters-Plus Syndrome A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability. http://purl.obolibrary.org/obo/DOID_1571 spastic ectropion http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/NCBITaxon_6268 Anisakis http://purl.obolibrary.org/obo/NCBITaxon_6267 Anisakidae http://purl.obolibrary.org/obo/DOID_0111292 obsolete idiopathic generalized epilepsy 10 An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_11126 acquired thrombocytopenia http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia http://purl.obolibrary.org/obo/NCBITaxon_6270 Pseudoterranova http://purl.obolibrary.org/obo/NCBITaxon_6267 Anisakidae http://purl.obolibrary.org/obo/DOID_0111312 obsolete idiopathic generalized epilepsy 11 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1. http://purl.obolibrary.org/obo/DOID_1587 thrombocytopenia due to platelet alloimmunization http://purl.obolibrary.org/obo/DOID_1588 thrombocytopenia http://purl.obolibrary.org/obo/DOID_10782 mesenteric lymphadenitis http://purl.obolibrary.org/obo/DOID_1602 lymphadenitis http://purl.obolibrary.org/obo/NCBITaxon_644710 Anisakis simplex complex http://purl.obolibrary.org/obo/NCBITaxon_6268 Anisakis http://purl.obolibrary.org/obo/DOID_0111313 obsolete idiopathic generalized epilepsy 12 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2. http://purl.obolibrary.org/obo/DOID_13072 acquired hyperkeratosis http://purl.obolibrary.org/obo/DOID_161 keratosis http://purl.obolibrary.org/obo/NCBITaxon_1649845 Yersinia pseudotuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_629 Yersinia http://purl.obolibrary.org/obo/DOID_0111314 obsolete idiopathic generalized epilepsy 13 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. http://purl.obolibrary.org/obo/DOID_6498 seborrheic keratosis http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/NCBITaxon_455381 Capillariidae http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/DOID_0111315 obsolete idiopathic generalized epilepsy 14 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12. http://purl.obolibrary.org/obo/DOID_0111316 obsolete idiopathic generalized epilepsy 15 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13. http://purl.obolibrary.org/obo/DOID_12355 prostatocystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/NCBITaxon_119093 Trichuridae http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/DOID_0111317 obsolete idiopathic generalized epilepsy 2 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_13507 trigonitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/NCBITaxon_6332 Trichinellidae http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/DOID_0111318 obsolete idiopathic generalized epilepsy 3 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33. http://purl.obolibrary.org/obo/DOID_13949 interstitial cystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/NCBITaxon_63672 Turbo http://purl.obolibrary.org/obo/NCBITaxon_63671 Turbinidae http://purl.obolibrary.org/obo/DOID_0111319 obsolete idiopathic generalized epilepsy 4 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26. http://purl.obolibrary.org/obo/DOID_1680 chronic cystitis http://purl.obolibrary.org/obo/DOID_1679 cystitis http://purl.obolibrary.org/obo/NCBITaxon_133423 Batillus http://purl.obolibrary.org/obo/NCBITaxon_63672 Turbo http://purl.obolibrary.org/obo/DOID_0111320 obsolete idiopathic generalized epilepsy 5 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22. http://purl.obolibrary.org/obo/DOID_13832 patent ductus arteriosus http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease http://purl.obolibrary.org/obo/DOID_0111321 obsolete idiopathic generalized epilepsy 7 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. http://purl.obolibrary.org/obo/NCBITaxon_6448 Gastropoda http://purl.obolibrary.org/obo/NCBITaxon_6447 Mollusca http://purl.obolibrary.org/obo/DOID_1681 heart septal defect http://purl.obolibrary.org/obo/DOID_1682 congenital heart disease http://purl.obolibrary.org/obo/NCBITaxon_216275 Vetigastropoda http://purl.obolibrary.org/obo/NCBITaxon_6448 Gastropoda http://purl.obolibrary.org/obo/DOID_0111322 obsolete idiopathic generalized epilepsy 8 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. http://purl.obolibrary.org/obo/NCBITaxon_139 Borreliella burgdorferi http://purl.obolibrary.org/obo/NCBITaxon_64895 Borreliella http://purl.obolibrary.org/obo/DOID_1726 partial of retinal vein occlusion http://purl.obolibrary.org/obo/DOID_1727 retinal vein occlusion http://purl.obolibrary.org/obo/NCBITaxon_197563 Mandibulata http://purl.obolibrary.org/obo/NCBITaxon_6656 Arthropoda http://purl.obolibrary.org/obo/DOID_0111323 obsolete idiopathic generalized epilepsy 9 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. http://purl.obolibrary.org/obo/DOID_13514 venous tributary occlusion of retina http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/NCBITaxon_6843 Chelicerata http://purl.obolibrary.org/obo/NCBITaxon_6656 Arthropoda http://purl.obolibrary.org/obo/DOID_0080701 obsolete prothrombin thrombophilia A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0060963 obsolete dystonia, DOPA-responsive A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_0080191 obsolete PTEN hamartoma tumor syndrome A syndrome comprised of a spectrum of related disorders characterized by the formation of hamartomas, overgrowth, and predisposition to cancer that has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. http://purl.obolibrary.org/obo/DOID_0110952 obsolete Waardenburg syndrome type 2D A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11. http://purl.obolibrary.org/obo/NCBITaxon_72041 Eumalacostraca http://purl.obolibrary.org/obo/NCBITaxon_6681 Malacostraca http://purl.obolibrary.org/obo/DOID_1727 retinal vein occlusion http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/DOID_0111794 obsolete congenital nystagmus 4 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33. http://purl.obolibrary.org/obo/NCBITaxon_6684 Dendrobranchiata http://purl.obolibrary.org/obo/NCBITaxon_6683 Decapoda http://purl.obolibrary.org/obo/DOID_8483 retinal artery occlusion http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/NCBITaxon_6692 Pleocyemata http://purl.obolibrary.org/obo/NCBITaxon_6683 Decapoda http://purl.obolibrary.org/obo/DOID_0111810 obsolete syndromic microphthalmia 4 A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28. http://purl.obolibrary.org/obo/DOID_12239 anal margin squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_4284 anal margin carcinoma http://purl.obolibrary.org/obo/NCBITaxon_111520 Penaeoidea http://purl.obolibrary.org/obo/NCBITaxon_6684 Dendrobranchiata http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver Environmental or genetic mechanisms driving the occurrance of complex diseases. http://purl.obolibrary.org/obo/DOID_13538 cornea squamous cell carcinoma http://purl.obolibrary.org/obo/DOID_6199 cornea cancer http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/NCBITaxon_6685 Penaeidae http://purl.obolibrary.org/obo/DOID_0081164 obsolete dilated cardiomyopathy 3B A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21. http://purl.obolibrary.org/obo/DOID_13865 facial neuralgia http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease http://purl.obolibrary.org/obo/NCBITaxon_6752 Brachyura http://purl.obolibrary.org/obo/NCBITaxon_6692 Pleocyemata http://purl.obolibrary.org/obo/DOID_0061095 obsolete immunodeficiency 130 A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_13934 facial paralysis http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease http://purl.obolibrary.org/obo/DOID_14075 geniculate ganglionitis http://purl.obolibrary.org/obo/DOID_1756 facial nerve disease http://purl.obolibrary.org/obo/NCBITaxon_116704 Eubrachyura http://purl.obolibrary.org/obo/NCBITaxon_6752 Brachyura http://purl.obolibrary.org/obo/DOID_0111612 obsolete autosomal recessive spinocerebellar ataxia 3 An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. http://purl.obolibrary.org/obo/DOID_2462 retinal vascular disease http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_0080713 obsolete MECP2 duplication syndrome A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking. http://purl.obolibrary.org/obo/NCBITaxon_85552 Scylla paramamosain http://purl.obolibrary.org/obo/NCBITaxon_6760 Scylla http://purl.obolibrary.org/obo/DOID_11481 constrictive pericarditis http://purl.obolibrary.org/obo/DOID_1787 pericarditis http://purl.obolibrary.org/obo/NCBITaxon_6757 Portunidae http://purl.obolibrary.org/obo/NCBITaxon_6774 Portunoidea http://purl.obolibrary.org/obo/DOID_10437 obsolete metastasis to lymph node http://purl.obolibrary.org/obo/DOID_1044 obsolete nontraumatic rupture of muscle http://purl.obolibrary.org/obo/DOID_1375 neonatal urinary tract infectious disease http://purl.obolibrary.org/obo/DOID_18 urinary system disease http://purl.obolibrary.org/obo/NCBITaxon_6854 Arachnida http://purl.obolibrary.org/obo/NCBITaxon_6843 Chelicerata http://purl.obolibrary.org/obo/DOID_10447 obsolete thyroid dysfunction complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_1439 pyuria http://purl.obolibrary.org/obo/DOID_18 urinary system disease http://purl.obolibrary.org/obo/DOID_1045 obsolete fascia disease http://purl.obolibrary.org/obo/NCBITaxon_6933 Acari http://purl.obolibrary.org/obo/NCBITaxon_6854 Arachnida http://purl.obolibrary.org/obo/DOID_5200 urinary tract obstruction http://purl.obolibrary.org/obo/DOID_18 urinary system disease http://purl.obolibrary.org/obo/DOID_10469 obsolete diabetes mellitus juvenile type, uncontrolled, with neurological manifestations http://purl.obolibrary.org/obo/NCBITaxon_29189 Ammonia http://purl.obolibrary.org/obo/NCBITaxon_69034 Rotaliidae http://purl.obolibrary.org/obo/NCBITaxon_6934 Parasitiformes http://purl.obolibrary.org/obo/NCBITaxon_6933 Acari http://purl.obolibrary.org/obo/DOID_11832 visual epilepsy http://purl.obolibrary.org/obo/DOID_1826 epilepsy http://purl.obolibrary.org/obo/DOID_1047 obsolete Mental disorder complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/NCBITaxon_6946 Acariformes http://purl.obolibrary.org/obo/NCBITaxon_6933 Acari http://purl.obolibrary.org/obo/DOID_13658 infective urethral stricture http://purl.obolibrary.org/obo/DOID_1829 urethral stricture http://purl.obolibrary.org/obo/DOID_10473 obsolete wrist or carpus enthesopathy http://purl.obolibrary.org/obo/DOID_13620 patent foramen ovale http://purl.obolibrary.org/obo/DOID_1882 atrial heart septal defect http://purl.obolibrary.org/obo/NCBITaxon_6935 Ixodida http://purl.obolibrary.org/obo/NCBITaxon_6934 Parasitiformes http://purl.obolibrary.org/obo/DOID_10483 obsolete hypertonic, incoordinate, or prolonged uterine contractions http://purl.obolibrary.org/obo/DOID_12010 anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease http://purl.obolibrary.org/obo/NCBITaxon_297308 Ixodoidea http://purl.obolibrary.org/obo/NCBITaxon_6935 Ixodida http://purl.obolibrary.org/obo/DOID_10489 obsolete transient disorder of initiating or maintaining wakefulness http://purl.obolibrary.org/obo/DOID_13561 optic disk drusen http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease http://purl.obolibrary.org/obo/DOID_146 papilledema http://purl.obolibrary.org/obo/DOID_1891 optic nerve disease http://purl.obolibrary.org/obo/DOID_13160 scrotum melanoma http://purl.obolibrary.org/obo/DOID_518 scrotum neoplasm http://purl.obolibrary.org/obo/NCBITaxon_140564 Ornithodoros parkeri http://purl.obolibrary.org/obo/NCBITaxon_6937 Ornithodoros http://purl.obolibrary.org/obo/NCBITaxon_69826 Ornithodoros savignyi http://purl.obolibrary.org/obo/NCBITaxon_6937 Ornithodoros http://purl.obolibrary.org/obo/NCBITaxon_693766 Anemiaceae http://purl.obolibrary.org/obo/NCBITaxon_693762 Schizaeales http://purl.obolibrary.org/obo/DOID_10494 obsolete pulmonary valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_14151 spinal cord melanoma http://purl.obolibrary.org/obo/DOID_5612 spinal cancer http://purl.obolibrary.org/obo/DOID_10501 obsolete menopausal and postmenopausal disorder http://purl.obolibrary.org/obo/DOID_10505 obsolete generalized nonconvulsive epilepsy disease http://purl.obolibrary.org/obo/NCBITaxon_426438 Hyalomminae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/DOID_4359 amelanotic melanoma http://purl.obolibrary.org/obo/DOID_1909 melanoma http://purl.obolibrary.org/obo/NCBITaxon_426439 Haemaphysalinae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/DOID_10521 obsolete pinna disease http://purl.obolibrary.org/obo/DOID_11383 cryptorchidism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development http://purl.obolibrary.org/obo/DOID_10528 obsolete Haemophilus influenzae infectious disease http://purl.obolibrary.org/obo/NCBITaxon_426441 Amblyomminae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/NCBITaxon_426442 Ixodinae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/NCBITaxon_2509494 Merbecovirus http://purl.obolibrary.org/obo/NCBITaxon_694002 Betacoronavirus http://purl.obolibrary.org/obo/NCBITaxon_2509511 Sarbecovirus http://purl.obolibrary.org/obo/NCBITaxon_694002 Betacoronavirus http://purl.obolibrary.org/obo/NCBITaxon_2901879 Severe acute respiratory syndrome coronavirus http://purl.obolibrary.org/obo/NCBITaxon_694009 Severe acute respiratory syndrome-related coronavirus http://purl.obolibrary.org/obo/DOID_11613 hyperandrogenism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development http://purl.obolibrary.org/obo/DOID_3765 pseudohermaphroditism http://purl.obolibrary.org/obo/DOID_1923 disorder of sexual development http://purl.obolibrary.org/obo/DOID_10587 Krabbe disease http://purl.obolibrary.org/obo/DOID_1927 sphingolipidosis http://purl.obolibrary.org/obo/DOID_11864 peripheral focal chorioretinitis http://purl.obolibrary.org/obo/DOID_1979 focal chorioretinitis http://purl.obolibrary.org/obo/DOID_10529 obsolete primary Haemophilus infectious disease http://purl.obolibrary.org/obo/NCBITaxon_34607 Amblyomma cajennense http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/DOID_10873 Kuhnt-Junius degeneration http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/DOID_1053 obsolete developmental dislocation of joint http://purl.obolibrary.org/obo/NCBITaxon_34608 Amblyomma hebraeum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/DOID_13214 hole retinal cyst http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/DOID_10537 obsolete recurrent malignant gastric neoplasm http://purl.obolibrary.org/obo/DOID_1054 obsolete glaucoma associated with chamber angle anomalies http://purl.obolibrary.org/obo/NCBITaxon_34609 Amblyomma maculatum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/DOID_14245 cystoid macular retinal degeneration http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/DOID_10549 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations http://purl.obolibrary.org/obo/NCBITaxon_34610 Amblyomma variegatum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/DOID_2569 retinal drusen http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/DOID_1055 obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes http://purl.obolibrary.org/obo/NCBITaxon_6943 Amblyomma americanum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/DOID_13088 periventricular leukomalacia http://purl.obolibrary.org/obo/DOID_2034 encephalomalacia http://purl.obolibrary.org/obo/DOID_10557 obsolete maternal distress http://purl.obolibrary.org/obo/NCBITaxon_83136 Trombidiformes http://purl.obolibrary.org/obo/NCBITaxon_6946 Acariformes http://purl.obolibrary.org/obo/DOID_13566 tibial collateral ligament bursitis http://purl.obolibrary.org/obo/DOID_204 enthesopathy http://purl.obolibrary.org/obo/DOID_10561 obsolete yaws hyperkeratosis http://purl.obolibrary.org/obo/NCBITaxon_83138 Anystina http://purl.obolibrary.org/obo/NCBITaxon_6947 Prostigmata http://purl.obolibrary.org/obo/DOID_12084 transient arthropathy http://purl.obolibrary.org/obo/DOID_2092 transient arthritis http://purl.obolibrary.org/obo/DOID_10569 obsolete myopathy of critical illness http://purl.obolibrary.org/obo/NCBITaxon_784 Orientia tsutsugamushi http://purl.obolibrary.org/obo/NCBITaxon_69474 Orientia http://purl.obolibrary.org/obo/DOID_12661 tooth ankylosis http://purl.obolibrary.org/obo/DOID_227 ankylosis http://purl.obolibrary.org/obo/DOID_1057 obsolete inborn amino acid transport disorder http://purl.obolibrary.org/obo/NCBITaxon_50557 Insecta http://purl.obolibrary.org/obo/NCBITaxon_6960 Hexapoda http://purl.obolibrary.org/obo/NCBITaxon_713 Actinobacillus http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/DOID_12733 hypercementosis http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/DOID_13240 tooth resorption http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/DOID_10574 obsolete vitamin D deficiency http://purl.obolibrary.org/obo/NCBITaxon_724 Haemophilus http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/DOID_2498 tooth erosion http://purl.obolibrary.org/obo/DOID_214 teeth hard tissue disease http://purl.obolibrary.org/obo/DOID_1058 obsolete amino acid transport disease http://purl.obolibrary.org/obo/NCBITaxon_745 Pasteurella http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/DOID_10461 dentin caries http://purl.obolibrary.org/obo/DOID_216 dental caries http://purl.obolibrary.org/obo/DOID_10585 obsolete hereditary and idiopathic peripheral neuropathy http://purl.obolibrary.org/obo/NCBITaxon_3650 Cucurbitaceae http://purl.obolibrary.org/obo/NCBITaxon_71239 Cucurbitales http://purl.obolibrary.org/obo/DOID_11736 odontoclasia http://purl.obolibrary.org/obo/DOID_216 dental caries http://purl.obolibrary.org/obo/DOID_10594 obsolete idiopathic neuropathy http://purl.obolibrary.org/obo/NCBITaxon_91827 Gunneridae http://purl.obolibrary.org/obo/NCBITaxon_71240 eudicotyledons http://purl.obolibrary.org/obo/DOID_14089 root caries http://purl.obolibrary.org/obo/DOID_216 dental caries http://purl.obolibrary.org/obo/DOID_10597 obsolete gonococcal meningitis http://purl.obolibrary.org/obo/NCBITaxon_91888 lamiids http://purl.obolibrary.org/obo/NCBITaxon_71274 asterids http://purl.obolibrary.org/obo/DOID_14683 Binder syndrome http://purl.obolibrary.org/obo/DOID_2163 nasal cavity disease http://purl.obolibrary.org/obo/DOID_10602 obsolete steatorrhea http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/NCBITaxon_71275 rosids http://purl.obolibrary.org/obo/DOID_1061 obsolete renal aminoaciduria http://purl.obolibrary.org/obo/DOID_12190 descending colon cancer http://purl.obolibrary.org/obo/DOID_219 colon cancer http://purl.obolibrary.org/obo/NCBITaxon_91836 malvids http://purl.obolibrary.org/obo/NCBITaxon_71275 rosids http://purl.obolibrary.org/obo/DOID_10621 obsolete Fissure of nipple associated with childbirth http://purl.obolibrary.org/obo/DOID_12192 sigmoid colon cancer http://purl.obolibrary.org/obo/DOID_219 colon cancer http://purl.obolibrary.org/obo/NCBITaxon_7148 Nematocera http://purl.obolibrary.org/obo/NCBITaxon_7147 Diptera http://purl.obolibrary.org/obo/DOID_10626 obsolete insulin dependent type diabetes mellitus uncontrolled with ketoacidosis http://purl.obolibrary.org/obo/DOID_3326 purpura http://purl.obolibrary.org/obo/DOID_2213 hemorrhagic disease http://purl.obolibrary.org/obo/DOID_11125 qualitative platelet defect http://purl.obolibrary.org/obo/DOID_2218 blood platelet disease http://purl.obolibrary.org/obo/NCBITaxon_7203 Brachycera http://purl.obolibrary.org/obo/NCBITaxon_7147 Diptera http://purl.obolibrary.org/obo/DOID_10630 obsolete optic atrophy associated with retinal dystrophy http://purl.obolibrary.org/obo/DOID_12382 complex partial epilepsy http://purl.obolibrary.org/obo/DOID_2234 focal epilepsy http://purl.obolibrary.org/obo/NCBITaxon_43786 Culicomorpha http://purl.obolibrary.org/obo/NCBITaxon_7148 Nematocera http://purl.obolibrary.org/obo/DOID_10645 obsolete chronic state latent schizophrenia with acute exacerbation http://purl.obolibrary.org/obo/DOID_12351 alcoholic hepatitis http://purl.obolibrary.org/obo/DOID_0070658 alcohol-associated liver disease http://purl.obolibrary.org/obo/NCBITaxon_43787 Psychodomorpha http://purl.obolibrary.org/obo/NCBITaxon_7148 Nematocera http://purl.obolibrary.org/obo/DOID_10659 obsolete colonic ganglioneuroma http://purl.obolibrary.org/obo/DOID_13003 vertebrobasilar insufficiency http://purl.obolibrary.org/obo/DOID_224 transient cerebral ischemia http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/NCBITaxon_715340 Pleosporineae http://purl.obolibrary.org/obo/DOID_13002 subclavian steal syndrome http://purl.obolibrary.org/obo/DOID_225 syndrome http://purl.obolibrary.org/obo/NCBITaxon_43816 Anophelinae http://purl.obolibrary.org/obo/NCBITaxon_7157 Culicidae http://purl.obolibrary.org/obo/DOID_10689 obsolete galactorrhea not associated with childbirth http://purl.obolibrary.org/obo/DOID_10708 obsolete passive-aggressive personality disorder http://purl.obolibrary.org/obo/DOID_14283 primary hypertrophic osteoarthropathy http://purl.obolibrary.org/obo/DOID_225 syndrome http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/NCBITaxon_7157 Culicidae http://purl.obolibrary.org/obo/DOID_10717 obsolete meningococcal septicemia http://purl.obolibrary.org/obo/DOID_13097 intracranial arteriosclerosis http://purl.obolibrary.org/obo/DOID_2349 arteriosclerosis http://purl.obolibrary.org/obo/NCBITaxon_147541 Dothideomycetes http://purl.obolibrary.org/obo/NCBITaxon_715962 dothideomyceta http://purl.obolibrary.org/obo/DOID_10747 obsolete lymphoid leukemia http://purl.obolibrary.org/obo/NCBITaxon_147550 Sordariomycetes http://purl.obolibrary.org/obo/NCBITaxon_715989 sordariomyceta http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_147538 Pezizomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/DOID_10657 colonic lymphangioma http://purl.obolibrary.org/obo/DOID_235 colonic benign neoplasm http://purl.obolibrary.org/obo/DOID_1075 obsolete chronic pyelonephritis with lesion of renal medullary necrosis http://purl.obolibrary.org/obo/NCBITaxon_147545 Eurotiomycetes http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/NCBITaxon_715962 dothideomyceta http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/DOID_11518 abnormal pupillary function http://purl.obolibrary.org/obo/DOID_238 pupil disease http://purl.obolibrary.org/obo/DOID_10760 obsolete choroidal rupture http://purl.obolibrary.org/obo/NCBITaxon_715989 sordariomyceta http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/DOID_11452 perinatal jaundice due to hepatocellular damage http://purl.obolibrary.org/obo/DOID_2383 neonatal jaundice http://purl.obolibrary.org/obo/DOID_10764 obsolete liver abscess and sequelae of chronic liver disease http://purl.obolibrary.org/obo/NCBITaxon_7198 Phlebotominae http://purl.obolibrary.org/obo/NCBITaxon_7197 Psychodidae http://purl.obolibrary.org/obo/DOID_12043 kernicterus due to isoimmunization http://purl.obolibrary.org/obo/DOID_2383 neonatal jaundice http://purl.obolibrary.org/obo/DOID_1406 iritis http://purl.obolibrary.org/obo/DOID_240 iris disease http://purl.obolibrary.org/obo/DOID_10772 thrombotic thrombocytopenic purpura http://purl.obolibrary.org/obo/DOID_2452 thrombophilia http://purl.obolibrary.org/obo/DOID_10774 obsolete cutaneous plague http://purl.obolibrary.org/obo/NCBITaxon_13203 Phlebotomus http://purl.obolibrary.org/obo/NCBITaxon_7198 Phlebotominae http://purl.obolibrary.org/obo/NCBITaxon_43733 Muscomorpha http://purl.obolibrary.org/obo/NCBITaxon_7203 Brachycera http://purl.obolibrary.org/obo/DOID_11247 disseminated intravascular coagulation http://purl.obolibrary.org/obo/DOID_2452 thrombophilia http://purl.obolibrary.org/obo/DOID_10788 obsolete osteitis condensans http://purl.obolibrary.org/obo/NCBITaxon_43735 Tabanomorpha http://purl.obolibrary.org/obo/NCBITaxon_7203 Brachycera http://purl.obolibrary.org/obo/DOID_13999 contact blepharoconjunctivitis http://purl.obolibrary.org/obo/DOID_2456 blepharoconjunctivitis http://purl.obolibrary.org/obo/DOID_10795 obsolete congenital syphilitic encephalitis http://purl.obolibrary.org/obo/NCBITaxon_3701045 Stomatocarida http://purl.obolibrary.org/obo/NCBITaxon_72041 Eumalacostraca http://purl.obolibrary.org/obo/DOID_11295 retinal microaneurysm http://purl.obolibrary.org/obo/DOID_2462 retinal vascular disease http://purl.obolibrary.org/obo/DOID_10803 obsolete Haemophilus influenzae meningitis http://purl.obolibrary.org/obo/NCBITaxon_43920 Chrysopsinae http://purl.obolibrary.org/obo/NCBITaxon_7205 Tabanidae http://purl.obolibrary.org/obo/DOID_8947 diabetic retinopathy http://purl.obolibrary.org/obo/DOID_2462 retinal vascular disease http://purl.obolibrary.org/obo/NCBITaxon_157914 Ziziphus mauritiana http://purl.obolibrary.org/obo/NCBITaxon_72171 Ziziphus http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/NCBITaxon_721805 Amygdaleae http://purl.obolibrary.org/obo/DOID_10815 obsolete recurrent duodenal cancer http://purl.obolibrary.org/obo/DOID_8646 substance-induced psychosis http://purl.obolibrary.org/obo/DOID_2468 psychotic disorder http://purl.obolibrary.org/obo/NCBITaxon_3749 Malus http://purl.obolibrary.org/obo/NCBITaxon_721813 Maleae http://purl.obolibrary.org/obo/DOID_10818 obsolete leptospiral meningitis http://purl.obolibrary.org/obo/DOID_10827 obsolete gender identity disorder in adolescent or adult http://purl.obolibrary.org/obo/DOID_13326 chronic follicular conjunctivitis http://purl.obolibrary.org/obo/DOID_2475 chronic conjunctivitis http://purl.obolibrary.org/obo/NCBITaxon_34064 Francisellaceae http://purl.obolibrary.org/obo/NCBITaxon_72273 Thiotrichales http://purl.obolibrary.org/obo/DOID_10836 obsolete diabetes mellitus with hyperosmolarity http://purl.obolibrary.org/obo/DOID_13341 parasitic conjunctivitis http://purl.obolibrary.org/obo/DOID_2475 chronic conjunctivitis http://purl.obolibrary.org/obo/NCBITaxon_194 Campylobacter http://purl.obolibrary.org/obo/NCBITaxon_72294 Campylobacteraceae http://purl.obolibrary.org/obo/DOID_10837 obsolete diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled http://purl.obolibrary.org/obo/DOID_10846 angiodysplasia of intestine http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/NCBITaxon_730 [Haemophilus] ducreyi http://purl.obolibrary.org/obo/NCBITaxon_724 Haemophilus http://purl.obolibrary.org/obo/DOID_10838 obsolete diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled http://purl.obolibrary.org/obo/DOID_10848 obsolete intrauterine hypoxia and birth asphyxia http://purl.obolibrary.org/obo/DOID_13629 dentine erosion http://purl.obolibrary.org/obo/DOID_2498 tooth erosion http://purl.obolibrary.org/obo/NCBITaxon_747 Pasteurella multocida http://purl.obolibrary.org/obo/NCBITaxon_745 Pasteurella http://purl.obolibrary.org/obo/DOID_1086 obsolete congenital chromosomal disease http://purl.obolibrary.org/obo/DOID_14140 pulp erosion http://purl.obolibrary.org/obo/DOID_2498 tooth erosion http://purl.obolibrary.org/obo/DOID_11994 atrophy of testis http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/NCBITaxon_33340 Neoptera http://purl.obolibrary.org/obo/NCBITaxon_7496 Pterygota http://purl.obolibrary.org/obo/DOID_10875 obsolete premature labor http://purl.obolibrary.org/obo/DOID_10877 obsolete disorganized type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_11996 spermatic cord torsion http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/DOID_12332 hematocele of tunica vaginalis testis http://purl.obolibrary.org/obo/DOID_2519 testicular disease http://purl.obolibrary.org/obo/NCBITaxon_140693 Pulicomorpha http://purl.obolibrary.org/obo/NCBITaxon_7509 Siphonaptera http://purl.obolibrary.org/obo/NCBITaxon_476427 Xenopsyllinae http://purl.obolibrary.org/obo/NCBITaxon_7511 Pulicidae http://purl.obolibrary.org/obo/NCBITaxon_423054 Eimeriorina http://purl.obolibrary.org/obo/NCBITaxon_75739 Eucoccidiorida http://purl.obolibrary.org/obo/NCBITaxon_775 Rickettsiaceae http://purl.obolibrary.org/obo/NCBITaxon_766 Rickettsiales http://purl.obolibrary.org/obo/DOID_10901 obsolete leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/DOID_10918 obsolete transsexuality with asexual history http://purl.obolibrary.org/obo/DOID_10922 obsolete sickle-cell crisis http://purl.obolibrary.org/obo/DOID_11786 splenic sequestration http://purl.obolibrary.org/obo/DOID_2529 splenic disease http://purl.obolibrary.org/obo/NCBITaxon_942 Anaplasmataceae http://purl.obolibrary.org/obo/NCBITaxon_766 Rickettsiales http://purl.obolibrary.org/obo/DOID_10924 obsolete catatonic type schizophrenia chronic state http://purl.obolibrary.org/obo/DOID_11787 chronic congestive splenomegaly http://purl.obolibrary.org/obo/DOID_2529 splenic disease http://purl.obolibrary.org/obo/NCBITaxon_106179 phagocytophilum group http://purl.obolibrary.org/obo/NCBITaxon_768 Anaplasma http://purl.obolibrary.org/obo/DOID_10925 obsolete catatonic schizophrenia http://purl.obolibrary.org/obo/DOID_14183 alcoholic neuropathy http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy http://purl.obolibrary.org/obo/NCBITaxon_2499399 Cornidovirineae http://purl.obolibrary.org/obo/NCBITaxon_76804 Nidovirales http://purl.obolibrary.org/obo/DOID_1097 obsolete hydrops fetalis http://purl.obolibrary.org/obo/DOID_14184 polyneuropathy due to drug http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy http://purl.obolibrary.org/obo/DOID_10998 obsolete chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/DOID_14402 critical illness polyneuropathy http://purl.obolibrary.org/obo/DOID_2537 inflammatory and toxic neuropathy http://purl.obolibrary.org/obo/DOID_11000 obsolete progressive iris atrophy http://purl.obolibrary.org/obo/DOID_11001 obsolete Iris and ciliary body degeneration http://purl.obolibrary.org/obo/DOID_11002 obsolete Iridoschisis http://purl.obolibrary.org/obo/DOID_11003 obsolete pupillary margin miotic cyst http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/NCBITaxon_772 Bartonellaceae http://purl.obolibrary.org/obo/DOID_13081 hemangioma of subcutaneous tissue http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_11005 obsolete Atrophy of sphincter of iris http://purl.obolibrary.org/obo/NCBITaxon_38323 Bartonella henselae http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/DOID_14308 skin epithelioid hemangioma http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_11018 obsolete postsurgical testicular hypofunction http://purl.obolibrary.org/obo/NCBITaxon_56426 Bartonella clarridgeiae http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/DOID_471 skin hemangioma http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_11019 obsolete testicular dysfunction http://purl.obolibrary.org/obo/NCBITaxon_774 Bartonella bacilliformis http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/NCBITaxon_803 Bartonella quintana http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/DOID_474 histiocytoid hemangioma http://purl.obolibrary.org/obo/DOID_255 hemangioma http://purl.obolibrary.org/obo/DOID_11020 obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/DOID_5241 hemangioblastoma http://purl.obolibrary.org/obo/DOID_255 hemangioma http://purl.obolibrary.org/obo/DOID_11027 obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis http://purl.obolibrary.org/obo/NCBITaxon_33988 Rickettsieae http://purl.obolibrary.org/obo/NCBITaxon_775 Rickettsiaceae http://purl.obolibrary.org/obo/DOID_11472 subglottis cancer http://purl.obolibrary.org/obo/DOID_2596 larynx cancer http://purl.obolibrary.org/obo/DOID_1103 obsolete malignant esophageal neoplasm by topographic region http://purl.obolibrary.org/obo/DOID_1105 obsolete esophageal metastasis http://purl.obolibrary.org/obo/DOID_11056 obsolete Pasteurella hemorrhagic septicemia http://purl.obolibrary.org/obo/NCBITaxon_777 Coxiella burnetii http://purl.obolibrary.org/obo/NCBITaxon_776 Coxiella http://purl.obolibrary.org/obo/DOID_13348 laryngeal cartilage cancer http://purl.obolibrary.org/obo/DOID_2596 larynx cancer http://purl.obolibrary.org/obo/DOID_11074 obsolete cyst of thyroid http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_241806 Polypodiopsida http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/DOID_13476 supraglottis cancer http://purl.obolibrary.org/obo/DOID_2596 larynx cancer http://purl.obolibrary.org/obo/DOID_1109 obsolete extracutaneous melanoma http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/DOID_10610 pancreatic steatorrhea http://purl.obolibrary.org/obo/DOID_26 pancreas disease http://purl.obolibrary.org/obo/DOID_11091 obsolete perinatal respiratory disorder http://purl.obolibrary.org/obo/DOID_13313 pancreatic mucinous ductal ectasia http://purl.obolibrary.org/obo/DOID_26 pancreas disease http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_30727 Cyprinoidei http://purl.obolibrary.org/obo/NCBITaxon_7952 Cypriniformes http://purl.obolibrary.org/obo/DOID_11096 obsolete renal syphilis http://purl.obolibrary.org/obo/DOID_139 squamous cell papilloma http://purl.obolibrary.org/obo/DOID_2615 papilloma http://purl.obolibrary.org/obo/NCBITaxon_2743694 Cyprininae http://purl.obolibrary.org/obo/NCBITaxon_7953 Cyprinidae http://purl.obolibrary.org/obo/DOID_11099 obsolete primary Rickettsiaceae infectious disease http://purl.obolibrary.org/obo/DOID_1627 intraductal papilloma http://purl.obolibrary.org/obo/DOID_3013 intraductal breast benign neoplasm http://purl.obolibrary.org/obo/NCBITaxon_7955 Danio rerio http://purl.obolibrary.org/obo/NCBITaxon_7954 Danio http://purl.obolibrary.org/obo/DOID_1110 obsolete gastrointestinal melanoma http://purl.obolibrary.org/obo/DOID_173 eccrine sweat gland neoplasm http://purl.obolibrary.org/obo/DOID_2664 sweat gland benign neoplasm http://purl.obolibrary.org/obo/DOID_11106 obsolete glaucoma associated with anterior segment anomaly http://purl.obolibrary.org/obo/NCBITaxon_7962 Cyprinus carpio http://purl.obolibrary.org/obo/NCBITaxon_7961 Cyprinus http://purl.obolibrary.org/obo/DOID_11107 obsolete glaucoma associated with ocular disorder http://purl.obolibrary.org/obo/DOID_13454 gonococcal synovitis http://purl.obolibrary.org/obo/DOID_2703 synovitis http://purl.obolibrary.org/obo/NCBITaxon_8015 Salmonidae http://purl.obolibrary.org/obo/NCBITaxon_8006 Salmoniformes http://purl.obolibrary.org/obo/DOID_1111 obsolete malignant neoplasm of cervical part of esophagus http://purl.obolibrary.org/obo/DOID_10762 portal hypertension http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease http://purl.obolibrary.org/obo/NCBITaxon_504568 Salmoninae http://purl.obolibrary.org/obo/NCBITaxon_8015 Salmonidae http://purl.obolibrary.org/obo/NCBITaxon_8022 Oncorhynchus mykiss http://purl.obolibrary.org/obo/NCBITaxon_8016 Oncorhynchus http://purl.obolibrary.org/obo/NCBITaxon_8030 Salmo salar http://purl.obolibrary.org/obo/NCBITaxon_8028 Salmo http://purl.obolibrary.org/obo/DOID_11110 obsolete psychosexual dysfunction with female orgasmic disease http://purl.obolibrary.org/obo/DOID_13738 hepatic infarction http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease http://purl.obolibrary.org/obo/NCBITaxon_1489845 Gadoidei http://purl.obolibrary.org/obo/NCBITaxon_8043 Gadiformes http://purl.obolibrary.org/obo/DOID_11118 obsolete syphilitic retrobulbar neuritis http://purl.obolibrary.org/obo/DOID_13739 nutmeg liver http://purl.obolibrary.org/obo/DOID_272 hepatic vascular disease http://purl.obolibrary.org/obo/NCBITaxon_8048 Gadus http://purl.obolibrary.org/obo/NCBITaxon_8045 Gadidae http://purl.obolibrary.org/obo/DOID_1112 obsolete neck cancer http://purl.obolibrary.org/obo/DOID_11330 erysipelas http://purl.obolibrary.org/obo/DOID_2723 dermatitis http://purl.obolibrary.org/obo/NCBITaxon_8049 Gadus morhua http://purl.obolibrary.org/obo/NCBITaxon_8048 Gadus http://purl.obolibrary.org/obo/NCBITaxon_119060 Burkholderiaceae http://purl.obolibrary.org/obo/NCBITaxon_80840 Burkholderiales http://purl.obolibrary.org/obo/DOID_1113 obsolete malignant esophageal neoplasm by anatomic region http://purl.obolibrary.org/obo/DOID_11144 obsolete anthrax septicemia http://purl.obolibrary.org/obo/DOID_11129 dislocation of ear ossicle http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/NCBITaxon_506 Alcaligenaceae http://purl.obolibrary.org/obo/NCBITaxon_80840 Burkholderiales http://purl.obolibrary.org/obo/DOID_11145 obsolete Pars plana primary cyst http://purl.obolibrary.org/obo/DOID_11783 necrosis of ear ossicle http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/NCBITaxon_1113537 Chlamydia/Chlamydophila group http://purl.obolibrary.org/obo/NCBITaxon_809 Chlamydiaceae http://purl.obolibrary.org/obo/DOID_11147 obsolete vascular lesions of cord complicating labor and delivery http://purl.obolibrary.org/obo/DOID_11150 obsolete glaucoma due to raised episcleral venous pressure http://purl.obolibrary.org/obo/DOID_2889 retrocochlear disease http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/NCBITaxon_813 Chlamydia trachomatis http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/DOID_11158 obsolete disorder of optic chiasm associated with non-pituitary neoplasm http://purl.obolibrary.org/obo/DOID_5100 middle ear disease http://purl.obolibrary.org/obo/DOID_2742 auditory system disease http://purl.obolibrary.org/obo/NCBITaxon_83558 Chlamydia pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/DOID_11163 obsolete apnea of prematurity http://purl.obolibrary.org/obo/DOID_11400 pyelonephritis http://purl.obolibrary.org/obo/DOID_2744 pyelitis http://purl.obolibrary.org/obo/NCBITaxon_83554 Chlamydia psittaci http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/DOID_11183 obsolete Haemophilus influenzae septicemia http://purl.obolibrary.org/obo/DOID_4205 cerebellum cancer http://purl.obolibrary.org/obo/DOID_4706 infratentorial cancer http://purl.obolibrary.org/obo/NCBITaxon_89940 Cladophialophora bantiana http://purl.obolibrary.org/obo/NCBITaxon_82105 Cladophialophora http://purl.obolibrary.org/obo/DOID_1119 obsolete large for dates affecting management of mother http://purl.obolibrary.org/obo/DOID_1352 paranasal sinus disease http://purl.obolibrary.org/obo/DOID_2825 nose disease http://purl.obolibrary.org/obo/NCBITaxon_86049 Cladophialophora carrionii http://purl.obolibrary.org/obo/NCBITaxon_82105 Cladophialophora http://purl.obolibrary.org/obo/DOID_11215 obsolete premature rupture of the fetal membranes http://purl.obolibrary.org/obo/DOID_2163 nasal cavity disease http://purl.obolibrary.org/obo/DOID_2825 nose disease http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/DOID_10783 methemoglobinemia http://purl.obolibrary.org/obo/DOID_2860 hemoglobinopathy http://purl.obolibrary.org/obo/DOID_1122 obsolete spinal enthesopathy http://purl.obolibrary.org/obo/NCBITaxon_6947 Prostigmata http://purl.obolibrary.org/obo/NCBITaxon_83136 Trombidiformes http://purl.obolibrary.org/obo/DOID_12657 vestibulocochlear nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/DOID_11248 obsolete hemorrhagic disease of newborn http://purl.obolibrary.org/obo/DOID_12756 lacrimal duct cancer http://purl.obolibrary.org/obo/DOID_292 lacrimal system cancer http://purl.obolibrary.org/obo/NCBITaxon_83141 Parasitengona http://purl.obolibrary.org/obo/NCBITaxon_83138 Anystina http://purl.obolibrary.org/obo/DOID_11264 obsolete Chlamydophila infectious disease http://purl.obolibrary.org/obo/DOID_10976 membranous glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/NCBITaxon_92088 Trombiculoidea http://purl.obolibrary.org/obo/NCBITaxon_83141 Parasitengona http://purl.obolibrary.org/obo/DOID_11268 obsolete vitamin A deficiency with keratomalacia http://purl.obolibrary.org/obo/DOID_11271 obsolete hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium http://purl.obolibrary.org/obo/DOID_11036 chronic rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/DOID_11275 obsolete muscle syphilis http://purl.obolibrary.org/obo/DOID_13138 acute proliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/DOID_11284 obsolete disseminated scars of retina http://purl.obolibrary.org/obo/DOID_14064 acute poststreptococcal glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/NCBITaxon_1653 Corynebacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/DOID_4781 diffuse glomerulonephritis http://purl.obolibrary.org/obo/DOID_2921 glomerulonephritis http://purl.obolibrary.org/obo/DOID_11286 obsolete neuromuscular junction toxic disorder http://purl.obolibrary.org/obo/DOID_11287 obsolete conditions involving the integument and temperature regulation of fetus and newborn http://purl.obolibrary.org/obo/DOID_113 obsolete pneumopericardium http://purl.obolibrary.org/obo/DOID_566 labyrinthine dysfunction http://purl.obolibrary.org/obo/DOID_2952 inner ear disease http://purl.obolibrary.org/obo/DOID_12276 malignant tumor of undescended testis http://purl.obolibrary.org/obo/DOID_2998 testicular cancer http://purl.obolibrary.org/obo/DOID_12286 testicular leukemia http://purl.obolibrary.org/obo/DOID_2998 testicular cancer http://purl.obolibrary.org/obo/NCBITaxon_85025 Nocardiaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/DOID_11307 obsolete subchronic state latent schizophrenia with acute exacerbation http://purl.obolibrary.org/obo/DOID_12342 retroperitoneum carcinoma http://purl.obolibrary.org/obo/DOID_5875 retroperitoneal cancer http://purl.obolibrary.org/obo/NCBITaxon_31957 Propionibacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85009 Propionibacteriales http://purl.obolibrary.org/obo/DOID_11308 obsolete latent schizophrenia in remission http://purl.obolibrary.org/obo/DOID_3445 scrotal carcinoma http://purl.obolibrary.org/obo/DOID_518 scrotum neoplasm http://purl.obolibrary.org/obo/NCBITaxon_1817 Nocardia http://purl.obolibrary.org/obo/NCBITaxon_85025 Nocardiaceae http://purl.obolibrary.org/obo/DOID_11309 obsolete chronic latent schizophrenia http://purl.obolibrary.org/obo/DOID_3181 oligodendroglioma http://purl.obolibrary.org/obo/DOID_3070 high grade glioma http://purl.obolibrary.org/obo/DOID_13924 necrotizing ulcerative gingivitis http://purl.obolibrary.org/obo/DOID_3087 gingivitis http://purl.obolibrary.org/obo/NCBITaxon_7496 Pterygota http://purl.obolibrary.org/obo/NCBITaxon_85512 Dicondylia http://purl.obolibrary.org/obo/DOID_11327 obsolete acute schizophrenic episode subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_171 neuroectodermal tumor http://purl.obolibrary.org/obo/DOID_3093 nervous system cancer http://purl.obolibrary.org/obo/DOID_11346 obsolete congenital osteodystrophy http://purl.obolibrary.org/obo/NCBITaxon_30005 Anoplura http://purl.obolibrary.org/obo/NCBITaxon_85819 Phthiraptera http://purl.obolibrary.org/obo/DOID_11347 obsolete Meniere's disease in remission http://purl.obolibrary.org/obo/DOID_12298 intrahepatic gall duct cancer http://purl.obolibrary.org/obo/DOID_3121 gallbladder cancer http://purl.obolibrary.org/obo/NCBITaxon_10090 Mus musculus http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/DOID_11349 obsolete epilepsia partialis continua http://purl.obolibrary.org/obo/DOID_12639 pyloric stenosis http://purl.obolibrary.org/obo/DOID_3122 gastric outlet obstruction http://purl.obolibrary.org/obo/NCBITaxon_1392 Bacillus anthracis http://purl.obolibrary.org/obo/NCBITaxon_86661 Bacillus cereus group http://purl.obolibrary.org/obo/DOID_11350 obsolete grand mal status epilepticus http://purl.obolibrary.org/obo/DOID_11014 anorectal stricture http://purl.obolibrary.org/obo/DOID_3128 anus disease http://purl.obolibrary.org/obo/NCBITaxon_8825 Neognathae http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/DOID_11352 obsolete epilepsia partialis continua with intractable epilepsy http://purl.obolibrary.org/obo/DOID_11374 anal spasm http://purl.obolibrary.org/obo/DOID_3128 anus disease http://purl.obolibrary.org/obo/NCBITaxon_1549675 Galloanserae http://purl.obolibrary.org/obo/NCBITaxon_8825 Neognathae http://purl.obolibrary.org/obo/DOID_14498 lipoid proteinosis http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder http://purl.obolibrary.org/obo/DOID_11361 obsolete tickborne fever http://purl.obolibrary.org/obo/NCBITaxon_6656 Arthropoda http://purl.obolibrary.org/obo/NCBITaxon_88770 Panarthropoda http://purl.obolibrary.org/obo/DOID_14692 Smith-Lemli-Opitz syndrome http://purl.obolibrary.org/obo/DOID_3146 lipid metabolism disorder http://purl.obolibrary.org/obo/DOID_11377 obsolete calculus of gallbladder and bile duct with acute cholecystitis http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/DOID_14116 multiple symmetric lipomatosis http://purl.obolibrary.org/obo/DOID_3153 lipomatosis http://purl.obolibrary.org/obo/DOID_11403 obsolete depressive state induced by drug http://purl.obolibrary.org/obo/NCBITaxon_9005 Phasianidae http://purl.obolibrary.org/obo/NCBITaxon_8976 Galliformes http://purl.obolibrary.org/obo/DOID_172 clear cell acanthoma http://purl.obolibrary.org/obo/DOID_3165 skin benign neoplasm http://purl.obolibrary.org/obo/DOID_11409 obsolete syphilitic disseminated chorioretinitis http://purl.obolibrary.org/obo/NCBITaxon_12066 Coxsackievirus http://purl.obolibrary.org/obo/NCBITaxon_90010 unclassified Enterovirus http://purl.obolibrary.org/obo/DOID_174 acanthoma http://purl.obolibrary.org/obo/DOID_3168 squamous cell neoplasm http://purl.obolibrary.org/obo/DOID_1141 obsolete alternating exotropia with V pattern http://purl.obolibrary.org/obo/NCBITaxon_33758 Echovirus http://purl.obolibrary.org/obo/NCBITaxon_90010 unclassified Enterovirus http://purl.obolibrary.org/obo/DOID_1089 tethered spinal cord syndrome http://purl.obolibrary.org/obo/DOID_319 spinal cord disease http://purl.obolibrary.org/obo/DOID_11421 obsolete acquired cavovarus foot deformity http://purl.obolibrary.org/obo/NCBITaxon_9072 Phasianinae http://purl.obolibrary.org/obo/NCBITaxon_9005 Phasianidae http://purl.obolibrary.org/obo/DOID_12689 acoustic neuroma http://purl.obolibrary.org/obo/DOID_3192 neurilemmoma http://purl.obolibrary.org/obo/DOID_11436 obsolete recurrent cholesteatoma post-mastoidectomy http://purl.obolibrary.org/obo/NCBITaxon_9031 Gallus gallus http://purl.obolibrary.org/obo/NCBITaxon_9030 Gallus http://purl.obolibrary.org/obo/DOID_956 peripheral nerve schwannoma http://purl.obolibrary.org/obo/DOID_3192 neurilemmoma http://purl.obolibrary.org/obo/DOID_11441 obsolete macrodactylia of toes http://purl.obolibrary.org/obo/NCBITaxon_9030 Gallus http://purl.obolibrary.org/obo/NCBITaxon_9072 Phasianinae http://purl.obolibrary.org/obo/DOID_14500 fucosidosis http://purl.obolibrary.org/obo/DOID_3211 lysosomal storage disease http://purl.obolibrary.org/obo/DOID_11442 obsolete malignant mast cell tumors involving lymph node of head http://purl.obolibrary.org/obo/NCBITaxon_1279 Staphylococcus http://purl.obolibrary.org/obo/NCBITaxon_90964 Staphylococcaceae http://purl.obolibrary.org/obo/DOID_14022 algoneurodystrophy http://purl.obolibrary.org/obo/DOID_3223 complex regional pain syndrome http://purl.obolibrary.org/obo/DOID_11451 obsolete secondary syphilitic meningitis http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/NCBITaxon_91061 Bacilli http://purl.obolibrary.org/obo/DOID_14224 tracheal calcification http://purl.obolibrary.org/obo/DOID_3225 tracheal disease http://purl.obolibrary.org/obo/DOID_11489 obsolete vitamin A deficiency with conjunctival xerosis and Bitot's spot http://purl.obolibrary.org/obo/NCBITaxon_186826 Lactobacillales http://purl.obolibrary.org/obo/NCBITaxon_91061 Bacilli http://purl.obolibrary.org/obo/DOID_12835 quadriplegia http://purl.obolibrary.org/obo/DOID_331 central nervous system disease http://purl.obolibrary.org/obo/DOID_11490 obsolete vitamin A deficiency with night blindness http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_91347 Enterobacterales http://purl.obolibrary.org/obo/DOID_319 spinal cord disease http://purl.obolibrary.org/obo/DOID_331 central nervous system disease http://purl.obolibrary.org/obo/DOID_1150 obsolete bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/NCBITaxon_1903411 Yersiniaceae http://purl.obolibrary.org/obo/NCBITaxon_91347 Enterobacterales http://purl.obolibrary.org/obo/DOID_11840 coronary artery vasospasm http://purl.obolibrary.org/obo/DOID_3393 coronary artery disease http://purl.obolibrary.org/obo/DOID_11524 obsolete Hyphema of iris and ciliary body http://purl.obolibrary.org/obo/NCBITaxon_9845 Ruminantia http://purl.obolibrary.org/obo/NCBITaxon_91561 Artiodactyla http://purl.obolibrary.org/obo/DOID_11843 coronary artery anomaly http://purl.obolibrary.org/obo/DOID_3393 coronary artery disease http://purl.obolibrary.org/obo/DOID_11525 obsolete Iris and ciliary body vascular disorder http://purl.obolibrary.org/obo/NCBITaxon_1437201 Pentapetalae http://purl.obolibrary.org/obo/NCBITaxon_91827 Gunneridae http://purl.obolibrary.org/obo/DOID_11847 coronary thrombosis http://purl.obolibrary.org/obo/DOID_0060903 thrombosis http://purl.obolibrary.org/obo/DOID_11535 obsolete dysplasia of prostate http://purl.obolibrary.org/obo/NCBITaxon_3744 Rosales http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/DOID_13001 carotid stenosis http://purl.obolibrary.org/obo/DOID_3407 carotid artery disease http://purl.obolibrary.org/obo/DOID_11575 obsolete pneumococcal meningitis http://purl.obolibrary.org/obo/NCBITaxon_71239 Cucurbitales http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/DOID_1272 telangiectasis http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/DOID_11578 obsolete Escherichia coli meningitis http://purl.obolibrary.org/obo/NCBITaxon_3646 Malpighiales http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/DOID_12918 thromboangiitis obliterans http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/DOID_11582 obsolete syphilitic aortitis http://purl.obolibrary.org/obo/NCBITaxon_41937 Sapindales http://purl.obolibrary.org/obo/NCBITaxon_91836 malvids http://purl.obolibrary.org/obo/DOID_13252 mesenteric vascular occlusion http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/NCBITaxon_4069 Solanales http://purl.obolibrary.org/obo/NCBITaxon_91888 lamiids http://purl.obolibrary.org/obo/DOID_11584 obsolete acute schizophrenic episode in remission http://purl.obolibrary.org/obo/DOID_1729 retinal vascular occlusion http://purl.obolibrary.org/obo/DOID_341 peripheral vascular disease http://purl.obolibrary.org/obo/NCBITaxon_92251 Trombiculidae http://purl.obolibrary.org/obo/NCBITaxon_92088 Trombiculoidea http://purl.obolibrary.org/obo/NCBITaxon_279271 Leptotrombidium http://purl.obolibrary.org/obo/NCBITaxon_92251 Trombiculidae http://purl.obolibrary.org/obo/DOID_11597 obsolete cold injury syndrome of newborn http://purl.obolibrary.org/obo/DOID_12491 Vagus nerve disease http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease http://purl.obolibrary.org/obo/NCBITaxon_715340 Pleosporineae http://purl.obolibrary.org/obo/NCBITaxon_92860 Pleosporales http://purl.obolibrary.org/obo/DOID_11600 obsolete secondary malignant neoplasm of lymph nodes of multiple site http://purl.obolibrary.org/obo/DOID_13866 multiple cranial nerve palsy http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/DOID_11604 obsolete idiopathic hydrops fetalis http://purl.obolibrary.org/obo/NCBITaxon_768 Anaplasma http://purl.obolibrary.org/obo/NCBITaxon_942 Anaplasmataceae http://purl.obolibrary.org/obo/DOID_14423 glossopharyngeal neuralgia http://purl.obolibrary.org/obo/DOID_3418 glossopharyngeal nerve disease http://purl.obolibrary.org/obo/DOID_11606 obsolete ileal disease http://purl.obolibrary.org/obo/NCBITaxon_943 Ehrlichia http://purl.obolibrary.org/obo/NCBITaxon_942 Anaplasmataceae http://purl.obolibrary.org/obo/DOID_240 iris disease http://purl.obolibrary.org/obo/DOID_3480 uveal disease http://purl.obolibrary.org/obo/DOID_11649 obsolete transitory tachypnea of newborn http://purl.obolibrary.org/obo/DOID_11654 obsolete nevus of ota http://purl.obolibrary.org/obo/NCBITaxon_106178 canis group http://purl.obolibrary.org/obo/NCBITaxon_943 Ehrlichia http://purl.obolibrary.org/obo/DOID_10941 intracranial aneurysm http://purl.obolibrary.org/obo/DOID_3527 cerebral arterial disease http://purl.obolibrary.org/obo/DOID_11662 obsolete color vision defect http://purl.obolibrary.org/obo/NCBITaxon_35500 Pecora http://purl.obolibrary.org/obo/NCBITaxon_9845 Ruminantia http://purl.obolibrary.org/obo/DOID_14174 central neurocytoma http://purl.obolibrary.org/obo/DOID_3541 cerebral ventricle cancer http://purl.obolibrary.org/obo/NCBITaxon_27592 Bovinae http://purl.obolibrary.org/obo/NCBITaxon_9895 Bovidae http://purl.obolibrary.org/obo/DOID_11683 obsolete glaucoma associated with systemic syndromes http://purl.obolibrary.org/obo/DOID_13687 chronic duodenal ileus http://purl.obolibrary.org/obo/DOID_3558 duodenal obstruction http://purl.obolibrary.org/obo/NCBITaxon_9963 Caprinae http://purl.obolibrary.org/obo/NCBITaxon_9895 Bovidae http://purl.obolibrary.org/obo/DOID_11696 obsolete chronic hypomanic disorder http://purl.obolibrary.org/obo/DOID_11316 histoplasmosis retinitis http://purl.obolibrary.org/obo/DOID_3612 retinitis http://purl.obolibrary.org/obo/NCBITaxon_9913 Bos taurus http://purl.obolibrary.org/obo/NCBITaxon_9903 Bos http://purl.obolibrary.org/obo/DOID_11705 obsolete impaired renal function disease http://purl.obolibrary.org/obo/DOID_1130 pituitary infarct http://purl.obolibrary.org/obo/DOID_3646 necrosis of pituitary http://purl.obolibrary.org/obo/NCBITaxon_9925 Capra hircus http://purl.obolibrary.org/obo/NCBITaxon_9922 Capra http://purl.obolibrary.org/obo/DOID_11711 obsolete Pregnancy in Diabetics http://purl.obolibrary.org/obo/DOID_11355 bladder calculus http://purl.obolibrary.org/obo/DOID_9590 lower urinary tract calculus http://purl.obolibrary.org/obo/NCBITaxon_9922 Capra http://purl.obolibrary.org/obo/NCBITaxon_9963 Caprinae http://purl.obolibrary.org/obo/DOID_11730 obsolete Borrelia infectious disease http://purl.obolibrary.org/obo/DOID_12143 neurogenic bladder http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/UBERON_0001301 epididymis http://purl.obolibrary.org/obo/UBERON_0005904 duct of male reproductive system http://purl.obolibrary.org/obo/DOID_11732 obsolete syphilitic myocarditis http://purl.obolibrary.org/obo/DOID_12144 low compliance bladder http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/DOID_11733 obsolete syphilitic aortic aneurysm http://purl.obolibrary.org/obo/DOID_12145 detrusor sphincter dyssynergia http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/DOID_11734 obsolete syphilitic pericarditis http://purl.obolibrary.org/obo/DOID_13948 bladder neck obstruction http://purl.obolibrary.org/obo/DOID_365 bladder disease http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_11735 obsolete single manic episode in full remission http://purl.obolibrary.org/obo/DOID_12309 urticaria pigmentosa http://purl.obolibrary.org/obo/DOID_3663 cutaneous mastocytosis http://purl.obolibrary.org/obo/DOID_11753 obsolete biliary calculus with acute cholecystitis http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/DOID_12016 frontal lobe neoplasm http://purl.obolibrary.org/obo/DOID_368 cerebrum cancer http://purl.obolibrary.org/obo/DOID_11756 obsolete calculus of bile duct with acute cholecystitis http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_3153 lipomatosis http://purl.obolibrary.org/obo/DOID_37 skin disease http://purl.obolibrary.org/obo/DOID_11770 obsolete hypersecretion of testicular hormones http://purl.obolibrary.org/obo/UBERON_0000977 pleura http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/DOID_10541 microinvasive gastric cancer http://purl.obolibrary.org/obo/DOID_3717 gastric adenocarcinoma http://purl.obolibrary.org/obo/DOID_11775 obsolete hereditary trophedema http://purl.obolibrary.org/obo/UBERON_0002358 peritoneum http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/DOID_12123 postinflammatory pulmonary fibrosis http://purl.obolibrary.org/obo/DOID_3770 pulmonary fibrosis http://purl.obolibrary.org/obo/DOID_11802 obsolete protein deficiency http://purl.obolibrary.org/obo/UBERON_0001297 serosa of uterus http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_1123 spondyloarthropathy http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_11806 obsolete macrodactylia of fingers http://purl.obolibrary.org/obo/UBERON_0002095 mesentery http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/DOID_12225 Plica syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_11810 obsolete metastatic neoplasm to the bladder http://purl.obolibrary.org/obo/UBERON_0001714 cranial ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/DOID_13781 hypermobility syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/UBERON_0001800 sensory ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/DOID_11815 obsolete recurrent malignant bladder neoplasm http://purl.obolibrary.org/obo/DOID_14107 De Quervain disease http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/DOID_11828 obsolete visual cortex disorder due to vascular disorder http://purl.obolibrary.org/obo/DOID_14276 shoulder impingement syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_1183 obsolete nephrotic syndrome with lesion of membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/DOID_14284 patellofemoral pain syndrome http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_11837 obsolete malignant neoplasm of scapula and long bones of upper limb http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/DOID_14286 neurogenic arthropathy http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_11849 obsolete degenerative changes of ciliary body http://purl.obolibrary.org/obo/UBERON_0001765 mammary duct http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/DOID_1670 Behcet's syndrome arthropathy http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_11852 obsolete aortic valve syphilitic endocarditis http://purl.obolibrary.org/obo/UBERON_0003928 digestive system duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/DOID_2092 transient arthritis http://purl.obolibrary.org/obo/DOID_381 arthropathy http://purl.obolibrary.org/obo/DOID_11854 obsolete monocular exotropia with A pattern http://purl.obolibrary.org/obo/UBERON_0005904 duct of male reproductive system http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_13169 spermatic cord cancer http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_11855 obsolete intermittent monocular exotropia http://purl.obolibrary.org/obo/UBERON_0006553 renal duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/DOID_518 scrotum neoplasm http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_11856 obsolete monocular exotropia with V pattern http://purl.obolibrary.org/obo/UBERON_0001811 conjunctiva http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/DOID_5639 rete testis neoplasm http://purl.obolibrary.org/obo/DOID_3856 male reproductive organ cancer http://purl.obolibrary.org/obo/DOID_11861 obsolete prolonged pregnancy http://purl.obolibrary.org/obo/UBERON_0016435 chest wall http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/DOID_10880 iliac vein thrombophlebitis http://purl.obolibrary.org/obo/DOID_3875 thrombophlebitis http://purl.obolibrary.org/obo/DOID_11862 obsolete late pregnancy http://purl.obolibrary.org/obo/DOID_11868 obsolete chronic erythremia http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11872 obsolete Staphylococcus aureus septicemia http://purl.obolibrary.org/obo/DOID_12282 femoral vein thrombophlebitis http://purl.obolibrary.org/obo/DOID_3875 thrombophlebitis http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11873 obsolete staphylococcal septicemia http://purl.obolibrary.org/obo/DOID_10778 fiedler's myocarditis http://purl.obolibrary.org/obo/DOID_3951 acute myocarditis http://purl.obolibrary.org/obo/UBERON_0003037 septum http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11939 obsolete schizo-affective type schizophrenia subchronic state http://purl.obolibrary.org/obo/DOID_10493 adrenal cortical hypofunction http://purl.obolibrary.org/obo/DOID_3952 adrenal cortex disease http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11946 obsolete habitual abortion http://purl.obolibrary.org/obo/DOID_12932 endomyocardial fibrosis http://purl.obolibrary.org/obo/DOID_397 restrictive cardiomyopathy http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11947 obsolete recurrent major depression in complete remission http://purl.obolibrary.org/obo/DOID_12935 alcoholic cardiomyopathy http://purl.obolibrary.org/obo/DOID_3978 extrinsic cardiomyopathy http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11950 obsolete Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_5749 pulmonary valve disease http://purl.obolibrary.org/obo/DOID_4079 heart valve disease http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11952 obsolete Congenital cardiovascular disorder of mother, with delivery http://purl.obolibrary.org/obo/DOID_61 mitral valve disease http://purl.obolibrary.org/obo/DOID_4079 heart valve disease http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11954 obsolete psychosexual dysfunction with inhibited sexual excitement http://purl.obolibrary.org/obo/DOID_5082 liver cirrhosis http://purl.obolibrary.org/obo/DOID_409 liver disease http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11955 obsolete malnutrition of moderate degree http://purl.obolibrary.org/obo/DOID_13168 prepuce cancer http://purl.obolibrary.org/obo/DOID_4159 skin cancer http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11970 obsolete symptomatic menopausal or female climacteric state http://purl.obolibrary.org/obo/DOID_1577 limited scleroderma http://purl.obolibrary.org/obo/DOID_418 systemic scleroderma http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11977 obsolete disorder of magnesium metabolism http://purl.obolibrary.org/obo/DOID_11978 obsolete chronic pyelonephritis without lesion of renal medullary necrosis http://purl.obolibrary.org/obo/DOID_1578 pulmonary systemic sclerosis http://purl.obolibrary.org/obo/DOID_850 lung disease http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_11987 obsolete anorectal gonorrhea http://purl.obolibrary.org/obo/DOID_1580 diffuse scleroderma http://purl.obolibrary.org/obo/DOID_418 systemic scleroderma http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_12000 obsolete secondary malignant neoplasm of trachea http://purl.obolibrary.org/obo/DOID_4195 hyperglycemia http://purl.obolibrary.org/obo/DOID_4194 glucose metabolism disease http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_12020 obsolete malignant neoplasm of corpus uteri, except isthmus http://purl.obolibrary.org/obo/DOID_10603 glucose intolerance http://purl.obolibrary.org/obo/DOID_4195 hyperglycemia http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_12021 obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_11669 hypertrichosis of eyelid http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/DOID_12022 obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease http://purl.obolibrary.org/obo/DOID_929 myopathy of extraocular muscle http://purl.obolibrary.org/obo/DOID_423 myopathy http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_1204 obsolete arthropathy due to hypersensitivity reaction http://purl.obolibrary.org/obo/DOID_12040 obsolete immune hydrops fetalis http://purl.obolibrary.org/obo/DOID_10989 conjunctival vascular disease http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/UBERON_0000955 brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/DOID_12056 obsolete meningitis with clear cerebrospinal fluid http://purl.obolibrary.org/obo/DOID_11653 conjunctival deposit http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/UBERON_0000997 mammalian vulva http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_12058 obsolete Fetal-maternal hemorrhage affecting management of mother http://purl.obolibrary.org/obo/DOID_12061 obsolete fetal blood loss http://purl.obolibrary.org/obo/DOID_1248 ocular hyperemia http://purl.obolibrary.org/obo/DOID_4251 conjunctival disease http://purl.obolibrary.org/obo/UBERON_0001043 esophagus http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_12065 obsolete ganglioneuroma of the mediastinum http://purl.obolibrary.org/obo/DOID_14043 neonatal myasthenia gravis http://purl.obolibrary.org/obo/DOID_437 myasthenia gravis http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_12076 obsolete interstitial emphysema and related conditions of newborn http://purl.obolibrary.org/obo/DOID_2007 degeneration of macula and posterior pole http://purl.obolibrary.org/obo/DOID_4448 macular degeneration http://purl.obolibrary.org/obo/UBERON_0005057 immune organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_12091 obsolete vitamin A deficiency with corneal xerosis http://purl.obolibrary.org/obo/DOID_4479 pseudohypoaldosteronism http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_12092 obsolete Galactorrhea associated with childbirth http://purl.obolibrary.org/obo/DOID_11671 hypotrichosis of eyelid http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/UBERON_0000171 respiration organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/UBERON_0002075 viscus http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/DOID_12097 obsolete rat-bite fever http://purl.obolibrary.org/obo/DOID_11240 appendiceal neoplasm http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm http://purl.obolibrary.org/obo/UBERON_0002097 skin of body http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_12104 obsolete vitamin A deficiency with corneal xerosis and ulcer http://purl.obolibrary.org/obo/DOID_7505 small intestine benign neoplasm http://purl.obolibrary.org/obo/DOID_4610 intestinal benign neoplasm http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_12106 obsolete tricuspid valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_11382 corneal neovascularization http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_12107 obsolete primary retinal cyst http://purl.obolibrary.org/obo/DOID_12111 obsolete vitamin A deficiency with xerophthalmic corneal scar http://purl.obolibrary.org/obo/DOID_11871 macular keratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/UBERON_0004177 hemopoietic organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_12113 obsolete nerve deafness http://purl.obolibrary.org/obo/DOID_12196 superficial keratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_12121 obsolete secondary syphilitic periostitis http://purl.obolibrary.org/obo/DOID_13626 photokeratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/DOID_1213 obsolete Tympanosclerosis of tympanic membrane and ossicles http://purl.obolibrary.org/obo/DOID_8463 corneal ulcer http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/DOID_12135 obsolete acquired factor VIII deficiency http://purl.obolibrary.org/obo/DOID_9858 deep keratitis http://purl.obolibrary.org/obo/DOID_4677 keratitis http://purl.obolibrary.org/obo/DOID_12136 obsolete acquired coagulation factor deficiency http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_10661 mediastinum ganglioneuroblastoma http://purl.obolibrary.org/obo/DOID_4691 malignant mediastinal neurogenic neoplasm http://purl.obolibrary.org/obo/DOID_1215 obsolete Tympanosclerosis of tympanic membrane only http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_12150 obsolete calculus of gallbladder with acute cholecystitis, with obstruction http://purl.obolibrary.org/obo/DOID_12064 mediastinum neurofibroma http://purl.obolibrary.org/obo/DOID_962 neurofibroma http://purl.obolibrary.org/obo/DOID_12151 obsolete currently pregnant habitual aborter http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/DOID_11132 prostatic hypertrophy http://purl.obolibrary.org/obo/DOID_47 prostate disease http://purl.obolibrary.org/obo/DOID_12180 obsolete Fetal Macrosomia http://purl.obolibrary.org/obo/DOID_13689 prostate calculus http://purl.obolibrary.org/obo/DOID_9590 lower urinary tract calculus http://purl.obolibrary.org/obo/UBERON_0005179 pelvic region element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/DOID_12189 obsolete metastatic tumor to the colon http://purl.obolibrary.org/obo/DOID_14654 prostatitis http://purl.obolibrary.org/obo/DOID_47 prostate disease http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/DOID_12204 obsolete catatonic schizophrenia in remission http://purl.obolibrary.org/obo/DOID_12221 obsolete Synovial, tendon or bursa disorder http://purl.obolibrary.org/obo/DOID_12223 obsolete specific bursitis often of occupational origin http://purl.obolibrary.org/obo/DOID_12224 obsolete calcium deposits in tendon and bursa http://purl.obolibrary.org/obo/DOID_12226 obsolete hearing disease http://purl.obolibrary.org/obo/DOID_12228 obsolete secondary malignant neoplasm of large intestine and rectum http://purl.obolibrary.org/obo/DOID_4203 brain stem cancer http://purl.obolibrary.org/obo/DOID_4706 infratentorial cancer http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/DOID_12251 obsolete hypoaldosteronism http://purl.obolibrary.org/obo/DOID_14066 acute diffuse nephritis http://purl.obolibrary.org/obo/DOID_4781 diffuse glomerulonephritis http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/DOID_12254 obsolete metastatic tumor to the testis http://purl.obolibrary.org/obo/DOID_10835 chylocele of tunica vaginalis http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/UBERON_0035651 glans http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/DOID_12255 obsolete congenital adrenal hyperplasia http://purl.obolibrary.org/obo/DOID_11997 spermatocele http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_12256 obsolete adrenogenital disease http://purl.obolibrary.org/obo/UBERON_0001257 trigone of urinary bladder http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_12333 male genital organ stricture http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_12258 obsolete acquired factor IX deficiency http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_12335 male genital organ vascular disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_12268 obsolete eclampsia with delivery http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_12336 male infertility http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_12269 obsolete Toxemia with convulsions complicating pregnancy, childbirth or the puerperium http://purl.obolibrary.org/obo/DOID_12274 obsolete anisometropia and aniseikonia http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_1529 penile disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_1228 obsolete paranoid type schizophrenia in remission http://purl.obolibrary.org/obo/DOID_12284 obsolete maternal pyrexia in labor http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/DOID_47 prostate disease http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_12292 obsolete recurrent malignant endocervical neoplasm http://purl.obolibrary.org/obo/UBERON_0001851 cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_9365 vesiculitis http://purl.obolibrary.org/obo/DOID_48 male reproductive system disease http://purl.obolibrary.org/obo/DOID_12301 obsolete speckled lentiginous nevus http://purl.obolibrary.org/obo/UBERON_0001862 vestibular labyrinth http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_13839 extrapyramidal and movement disease http://purl.obolibrary.org/obo/DOID_480 movement disease http://purl.obolibrary.org/obo/DOID_1231 obsolete chronic schizophrenia http://purl.obolibrary.org/obo/UBERON_0003215 alveolus http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_1713 benign shuddering attacks http://purl.obolibrary.org/obo/DOID_480 movement disease http://purl.obolibrary.org/obo/DOID_1232 obsolete paranoid type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_14463 cavernous hemangioma of orbit http://purl.obolibrary.org/obo/DOID_483 cavernous hemangioma http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_14491 regional ureteric cancer http://purl.obolibrary.org/obo/DOID_4939 ureter carcinoma http://purl.obolibrary.org/obo/DOID_12324 obsolete transsexuality with homosexual history http://purl.obolibrary.org/obo/DOID_12338 obsolete redundant prepuce and phimosis http://purl.obolibrary.org/obo/DOID_12424 thyrocalcitonin secretion disease http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_12346 obsolete hyperkinetic heart syndrome http://purl.obolibrary.org/obo/DOID_12837 thyroid crisis http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease http://purl.obolibrary.org/obo/DOID_12356 obsolete bacterial prostatitis http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/DOID_50 thyroid gland disease http://purl.obolibrary.org/obo/DOID_12378 obsolete predominant psychomotor disturbance http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0016526 lobe of cerebral hemisphere http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/DOID_1660 malignant pineal area germ cell neoplasm http://purl.obolibrary.org/obo/DOID_5032 pineal gland cancer http://purl.obolibrary.org/obo/DOID_12379 obsolete mixed disorder as reaction to stress http://purl.obolibrary.org/obo/UBERON_0022275 colic flexure http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0001558 lower respiratory tract http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/DOID_1238 obsolete acute erythremia and erythroleukemia in remission http://purl.obolibrary.org/obo/DOID_1108 esophagus melanoma http://purl.obolibrary.org/obo/DOID_5041 esophageal cancer http://purl.obolibrary.org/obo/UBERON_0001737 larynx http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/DOID_12380 obsolete predominant disturbance of consciousness http://purl.obolibrary.org/obo/DOID_14018 alcoholic liver cirrhosis http://purl.obolibrary.org/obo/DOID_0070658 alcohol-associated liver disease http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0001130 vertebral column http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/DOID_1239 obsolete acute erythremia and erythroleukemia http://purl.obolibrary.org/obo/DOID_10964 cholesteatoma of middle ear http://purl.obolibrary.org/obo/DOID_869 cholesteatoma http://purl.obolibrary.org/obo/UBERON_0001270 bony pelvis http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0013118 sulcus of brain http://purl.obolibrary.org/obo/UBERON_0000093 sulcus http://purl.obolibrary.org/obo/DOID_12392 obsolete leukemic reticuloendotheliosis involving lymph nodes of head, face and neck http://purl.obolibrary.org/obo/DOID_12396 obsolete entropion and trichiasis of eyelid http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_5100 middle ear disease http://purl.obolibrary.org/obo/DOID_14032 malignant parietal pleura tumor http://purl.obolibrary.org/obo/DOID_5158 pleural cancer http://purl.obolibrary.org/obo/UBERON_0002360 meninx http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/DOID_12417 obsolete psychogenic dysmenorrhea http://purl.obolibrary.org/obo/DOID_14033 malignant visceral pleura tumor http://purl.obolibrary.org/obo/DOID_5158 pleural cancer http://purl.obolibrary.org/obo/UBERON_0002185 bronchus http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/DOID_12448 obsolete hematologic pregnancy complication http://purl.obolibrary.org/obo/DOID_14175 von Hippel-Lindau disease http://purl.obolibrary.org/obo/DOID_5241 hemangioblastoma http://purl.obolibrary.org/obo/UBERON_0003126 trachea http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/DOID_1249 obsolete Conjunctival vascular disorder and cysts http://purl.obolibrary.org/obo/DOID_10486 intestinal atresia http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/UBERON_0002186 bronchiole http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/DOID_12508 obsolete simple type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_10607 tropical sprue http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_12525 obsolete Lateral cutaneous femoral nerve of thigh compression or syndrome http://purl.obolibrary.org/obo/DOID_10611 protein-losing enteropathy http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/UBERON_0002076 cuticle of hair http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/DOID_12538 obsolete Chlamydia trachomatis pharyngitis http://purl.obolibrary.org/obo/DOID_1285 rectal disease http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/DOID_12539 obsolete Chlamydia trachomatis proctitis http://purl.obolibrary.org/obo/DOID_13248 mucocele of appendix http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/DOID_13249 pneumatosis cystoides intestinalis http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/UBERON_0002211 nerve root http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/DOID_12541 obsolete catatonic type schizophrenia subchronic state http://purl.obolibrary.org/obo/DOID_13419 neurogenic bowel http://purl.obolibrary.org/obo/DOID_5295 intestinal disease http://purl.obolibrary.org/obo/UBERON_0004904 neuron projection bundle connecting eye with brain http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/DOID_12542 obsolete catatonic type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_3646 necrosis of pituitary http://purl.obolibrary.org/obo/DOID_53 pituitary gland disease http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/DOID_12543 obsolete catatonic type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_12397 entropion http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_12551 obsolete Escherichia coli septicemia http://purl.obolibrary.org/obo/DOID_12959 lagophthalmos http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/UBERON_0001245 anus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/DOID_12555 obsolete acute renal failure with lesion of renal cortical necrosis http://purl.obolibrary.org/obo/UBERON_0012303 ureteral orifice http://purl.obolibrary.org/obo/UBERON_0010418 urethral opening http://purl.obolibrary.org/obo/DOID_1570 ectropion http://purl.obolibrary.org/obo/DOID_530 eyelid disease http://purl.obolibrary.org/obo/DOID_1257 obsolete Transient hypertension of pregnancy http://purl.obolibrary.org/obo/UBERON_0010418 urethral opening http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/DOID_12582 obsolete enthesopathy of elbow http://purl.obolibrary.org/obo/DOID_12584 obsolete Diabetes mellitus of mother, with delivery http://purl.obolibrary.org/obo/UBERON_0001158 descending colon http://purl.obolibrary.org/obo/UBERON_0000168 proximal-distal subdivision of colon http://purl.obolibrary.org/obo/DOID_12514 retinal perforation http://purl.obolibrary.org/obo/DOID_5327 retinal detachment http://purl.obolibrary.org/obo/DOID_12604 obsolete secondary malignant neoplasm of suprarenal gland http://purl.obolibrary.org/obo/UBERON_0001159 sigmoid colon http://purl.obolibrary.org/obo/UBERON_0000168 proximal-distal subdivision of colon http://purl.obolibrary.org/obo/DOID_11189 pulp degeneration http://purl.obolibrary.org/obo/DOID_5330 dental pulp disease http://purl.obolibrary.org/obo/DOID_12605 obsolete metastasis to adrenals http://purl.obolibrary.org/obo/UBERON_0002048 lung http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_10655 lipoma of colon http://purl.obolibrary.org/obo/DOID_6460 large intestine lipoma http://purl.obolibrary.org/obo/DOID_1261 obsolete AIDS-related pelvic inflammatory disease http://purl.obolibrary.org/obo/DOID_12610 obsolete adrenal hemorrhage of fetus or newborn http://purl.obolibrary.org/obo/UBERON_0000178 blood http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/DOID_10656 colon leiomyoma http://purl.obolibrary.org/obo/DOID_5353 colonic disease http://purl.obolibrary.org/obo/DOID_12612 obsolete gastrointestinal hemorrhage of fetus or newborn http://purl.obolibrary.org/obo/UBERON_0002391 lymph http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/DOID_11371 functional diarrhea http://purl.obolibrary.org/obo/DOID_5353 colonic disease http://purl.obolibrary.org/obo/DOID_12647 obsolete Congenital or acquired abnormality of vulva, with delivery http://purl.obolibrary.org/obo/UBERON_0012332 broad ligament of uterus http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/DOID_13135 exophthalmic ophthalmoplegia http://purl.obolibrary.org/obo/DOID_539 ophthalmoplegia http://purl.obolibrary.org/obo/DOID_12651 obsolete disorder of optic chiasm associated with inflammatory disorder http://purl.obolibrary.org/obo/UBERON_0008845 nonskeletal ligament http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/DOID_10863 paralytic squint http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_12670 obsolete fusion with defective stereopsis http://purl.obolibrary.org/obo/UBERON_0008846 skeletal ligament http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/DOID_1143 exotropia http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_1269 obsolete thyroid gland tuberculosis http://purl.obolibrary.org/obo/UBERON_0015214 arcuate ligament http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/DOID_12445 conjugate gaze palsy http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/UBERON_0036262 uterine ligament http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_12667 binocular vision disease http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_9306 mechanical strabismus http://purl.obolibrary.org/obo/DOID_540 strabismus http://purl.obolibrary.org/obo/DOID_12679 nephrocalcinosis http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_12694 obsolete hyperemesis gravidarum with metabolic disturbance http://purl.obolibrary.org/obo/UBERON_0001295 endometrium http://purl.obolibrary.org/obo/UBERON_0019042 reproductive system mucosa http://purl.obolibrary.org/obo/DOID_13068 renal osteodystrophy http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_12702 obsolete Rotator cuff shoulder syndrome and allied disorder http://purl.obolibrary.org/obo/UBERON_0001826 nasal cavity mucosa http://purl.obolibrary.org/obo/UBERON_0004785 respiratory system mucosa http://purl.obolibrary.org/obo/DOID_2744 pyelitis http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_12713 obsolete medullary sponge kidney http://purl.obolibrary.org/obo/UBERON_0003729 mouth mucosa http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/DOID_3116 kidney benign neoplasm http://purl.obolibrary.org/obo/DOID_731 urinary system benign neoplasm http://purl.obolibrary.org/obo/DOID_12715 obsolete infectious myositis http://purl.obolibrary.org/obo/UBERON_0004785 respiratory system mucosa http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/DOID_447 renal tubular transport disease http://purl.obolibrary.org/obo/DOID_557 kidney disease http://purl.obolibrary.org/obo/DOID_12722 obsolete liver metastasis http://purl.obolibrary.org/obo/DOID_12723 obsolete lung carcinoma metastatic to the liver http://purl.obolibrary.org/obo/UBERON_0004983 mucosa of vagina http://purl.obolibrary.org/obo/UBERON_0019042 reproductive system mucosa http://purl.obolibrary.org/obo/DOID_12724 obsolete breast arcinoma metastatic to the liver http://purl.obolibrary.org/obo/DOID_12098 trigeminal neuralgia http://purl.obolibrary.org/obo/DOID_561 trigeminal nerve disease http://purl.obolibrary.org/obo/UBERON_0019042 reproductive system mucosa http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_12727 obsolete retroverted incarcerated gravid uterus http://purl.obolibrary.org/obo/DOID_1140 spinal canal and spinal cord meningioma http://purl.obolibrary.org/obo/DOID_5612 spinal cancer http://purl.obolibrary.org/obo/UBERON_0008230 tibialis http://purl.obolibrary.org/obo/UBERON_0004256 hindlimb zeugopod muscle http://purl.obolibrary.org/obo/DOID_12758 obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid http://purl.obolibrary.org/obo/DOID_13742 neurofibroma of spinal cord http://purl.obolibrary.org/obo/DOID_962 neurofibroma http://purl.obolibrary.org/obo/UBERON_0001831 parotid gland http://purl.obolibrary.org/obo/UBERON_0012102 buccal salivary gland http://purl.obolibrary.org/obo/DOID_12784 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations http://purl.obolibrary.org/obo/DOID_1279 ocular motility disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/DOID_12796 obsolete Posterior synechiae http://purl.obolibrary.org/obo/DOID_238 pupil disease http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/DOID_128 obsolete vaginal soft tissue tumor http://purl.obolibrary.org/obo/DOID_790 ocular hypotension http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_12838 obsolete secondary thyroid hyperplasia http://purl.obolibrary.org/obo/UBERON_0000167 oral cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_8886 chorioretinitis http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_12839 obsolete thyrotoxicosis from ectopic thyroid nodule http://purl.obolibrary.org/obo/UBERON_0003691 epidural space http://purl.obolibrary.org/obo/UBERON_0010276 space in vertebral column http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/DOID_12843 obsolete polyneuritis http://purl.obolibrary.org/obo/UBERON_0003693 retroperitoneal space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/UBERON_0000093 sulcus http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/DOID_12852 obsolete adhesions of drum head to incus http://purl.obolibrary.org/obo/DOID_9835 refractive error http://purl.obolibrary.org/obo/DOID_5614 eye disease http://purl.obolibrary.org/obo/UBERON_0002224 thoracic cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/DOID_12853 obsolete adhesions of drum head to promontorium http://purl.obolibrary.org/obo/DOID_11550 oculomotor nerve paralysis http://purl.obolibrary.org/obo/DOID_562 third cranial nerve disease http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/DOID_12854 obsolete adhesions of drum head to stapes http://purl.obolibrary.org/obo/DOID_13864 trochlear nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/UBERON_0010276 space in vertebral column http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/DOID_561 trigeminal nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/UBERON_0014930 perivascular space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/DOID_12860 obsolete non-neoplastic nevus of skin http://purl.obolibrary.org/obo/DOID_562 third cranial nerve disease http://purl.obolibrary.org/obo/DOID_5656 cranial nerve disease http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/DOID_12863 obsolete senile nevus http://purl.obolibrary.org/obo/DOID_14165 bilateral hyperactive labyrinth http://purl.obolibrary.org/obo/DOID_566 labyrinthine dysfunction http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/DOID_12864 obsolete acrosyringeal nevus http://purl.obolibrary.org/obo/DOID_14413 labyrinthine bilateral reactive loss http://purl.obolibrary.org/obo/DOID_566 labyrinthine dysfunction http://purl.obolibrary.org/obo/DOID_12879 obsolete Pars plana exudative cyst http://purl.obolibrary.org/obo/DOID_11086 chorioretinal scar http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/DOID_12881 obsolete idiopathic urticaria http://purl.obolibrary.org/obo/DOID_11561 hypertensive retinopathy http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/DOID_12910 obsolete sickle-cell/Hb-C disease with crisis http://purl.obolibrary.org/obo/DOID_13025 retinopathy of prematurity http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/UBERON_0000016 endocrine pancreas http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/DOID_13401 angioid streaks http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_12921 obsolete childhood schizophrenia http://purl.obolibrary.org/obo/DOID_12922 obsolete acute undifferentiated schizophrenia http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/DOID_12923 obsolete chronic undifferentiated schizophrenia http://purl.obolibrary.org/obo/UBERON_0002101 limb http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/DOID_14000 rubeosis iridis http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_12928 obsolete nutritional cardiomyopathy http://purl.obolibrary.org/obo/UBERON_0000026 appendage http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_3612 retinitis http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_5327 retinal detachment http://purl.obolibrary.org/obo/DOID_5679 retinal disease http://purl.obolibrary.org/obo/DOID_11831 cortical blindness http://purl.obolibrary.org/obo/DOID_5691 visual cortex disease http://purl.obolibrary.org/obo/DOID_12936 obsolete secondary cardiomyopathy http://purl.obolibrary.org/obo/DOID_12973 obsolete secondary malignant neoplasm of intrapelvic lymph node http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_12168 ulnar nerve lesion http://purl.obolibrary.org/obo/DOID_572 mononeuritis of upper limb and mononeuritis multiplex http://purl.obolibrary.org/obo/DOID_10627 primary optic atrophy http://purl.obolibrary.org/obo/DOID_5723 optic atrophy http://purl.obolibrary.org/obo/DOID_12983 obsolete transient disorder of initiating or maintaining sleep http://purl.obolibrary.org/obo/UBERON_0001464 hip http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0008337 inguinal part of abdomen http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_12985 obsolete functional disorder of polymorphonuclear neutrophils http://purl.obolibrary.org/obo/DOID_10631 partial optic atrophy http://purl.obolibrary.org/obo/DOID_5723 optic atrophy http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_10973 acute salpingitis http://purl.obolibrary.org/obo/DOID_5733 salpingitis http://purl.obolibrary.org/obo/DOID_130 obsolete female genitalia nevus http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_5731 chronic salpingitis http://purl.obolibrary.org/obo/DOID_5733 salpingitis http://purl.obolibrary.org/obo/DOID_13023 obsolete sickle cell trait http://purl.obolibrary.org/obo/DOID_13040 obsolete syphilitic optic atrophy http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/DOID_13913 lumbosacral plexus lesion http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease http://purl.obolibrary.org/obo/DOID_13063 obsolete moderate recurrent major depression http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/DOID_573 nerve compression syndrome http://purl.obolibrary.org/obo/DOID_574 peripheral nervous system disease http://purl.obolibrary.org/obo/DOID_13121 obsolete deficiency anemia http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_11217 chronic tympanitis http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_1314 obsolete wasting syndrome http://purl.obolibrary.org/obo/UBERON_0011818 superficial fascia http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_1214 tympanosclerosis http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_13157 obsolete sensory disorder of eyelid http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_12546 atrophic nonflaccid tympanic membrane http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/DOID_13175 obsolete female genital tuberculosis http://purl.obolibrary.org/obo/DOID_13790 acute tympanitis http://purl.obolibrary.org/obo/DOID_5782 tympanic membrane disease http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_13177 obsolete chronic erythremia in remission http://purl.obolibrary.org/obo/UBERON_0001758 periodontium http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_13192 obsolete pulmonary congestion and hypostasis http://purl.obolibrary.org/obo/DOID_2860 hemoglobinopathy http://purl.obolibrary.org/obo/DOID_589 congenital hemolytic anemia http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/DOID_13194 obsolete non-toxic nodular goiter http://purl.obolibrary.org/obo/DOID_14534 malignant cardiac peripheral nerve sheath neoplasm http://purl.obolibrary.org/obo/DOID_5940 malignant peripheral nerve sheath tumor http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/DOID_13202 obsolete secondary syphilitic iridocyclitis http://purl.obolibrary.org/obo/DOID_14172 rheumatic congestive heart failure http://purl.obolibrary.org/obo/DOID_6000 congestive heart failure http://purl.obolibrary.org/obo/DOID_13211 obsolete secondary malignant neoplasm of brain and spinal cord http://purl.obolibrary.org/obo/UBERON_0002068 urachus http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/DOID_10485 esophageal atresia http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/DOID_13212 obsolete metastasis to skin http://purl.obolibrary.org/obo/DOID_112 esophageal varix http://purl.obolibrary.org/obo/DOID_866 vein disease http://purl.obolibrary.org/obo/UBERON_0002298 brainstem http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_11963 esophagitis http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/UBERON_0002407 pericardium http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/DOID_13213 obsolete metastatic cancer to the breast http://purl.obolibrary.org/obo/DOID_13185 esophageal diverticulosis http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/DOID_13219 obsolete transsexuality with heterosexual history http://purl.obolibrary.org/obo/DOID_13186 megaesophagus http://purl.obolibrary.org/obo/DOID_6050 esophageal disease http://purl.obolibrary.org/obo/UBERON_0000073 regional part of nervous system http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/DOID_13224 obsolete introverted personality http://purl.obolibrary.org/obo/DOID_1323 obsolete malignant neoplasm of trachea, bronchus and lung http://purl.obolibrary.org/obo/DOID_11502 mitral valve insufficiency http://purl.obolibrary.org/obo/DOID_61 mitral valve disease http://purl.obolibrary.org/obo/DOID_13232 obsolete Diffuse cholesteatosis of middle ear and mastoid http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/DOID_11184 acute conjunctivitis http://purl.obolibrary.org/obo/DOID_6195 conjunctivitis http://purl.obolibrary.org/obo/DOID_13253 obsolete jejunal disease http://purl.obolibrary.org/obo/UBERON_0002749 regional part of cerebellar cortex http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_2475 chronic conjunctivitis http://purl.obolibrary.org/obo/DOID_6195 conjunctivitis http://purl.obolibrary.org/obo/DOID_13262 obsolete hallucinatory state induced by drug http://purl.obolibrary.org/obo/DOID_13315 obsolete relapsing pancreatitis http://purl.obolibrary.org/obo/DOID_13319 obsolete lower limb lymph node mast cell malignancy http://purl.obolibrary.org/obo/DOID_13350 obsolete gender identity disorder in children http://purl.obolibrary.org/obo/DOID_13361 obsolete nephrotic syndrome with lesion of proliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_13364 obsolete chronobiology disease http://purl.obolibrary.org/obo/DOID_13376 obsolete congenital aortic insufficiency http://purl.obolibrary.org/obo/DOID_13380 obsolete acute pyelonephritis with lesion of renal medullary necrosis http://purl.obolibrary.org/obo/UBERON_0007375 roof of mouth http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/DOID_12451 sulfhemoglobinemia http://purl.obolibrary.org/obo/DOID_620 blood protein disease http://purl.obolibrary.org/obo/DOID_13387 obsolete upper limb cancer http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/DOID_633 myositis http://purl.obolibrary.org/obo/DOID_13397 obsolete atypical manic disorder http://purl.obolibrary.org/obo/UBERON_0003244 epithelium of mammary gland http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_13042 persistent fetal circulation syndrome http://purl.obolibrary.org/obo/DOID_6432 pulmonary hypertension http://purl.obolibrary.org/obo/DOID_13398 obsolete open angle with borderline glaucoma findings http://purl.obolibrary.org/obo/UBERON_0003843 dental epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_11949 Creutzfeldt-Jakob disease http://purl.obolibrary.org/obo/DOID_649 prion disease http://purl.obolibrary.org/obo/DOID_13408 obsolete metastasis to pleura http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_11685 inflamed seborrheic keratosis http://purl.obolibrary.org/obo/DOID_6498 seborrheic keratosis http://purl.obolibrary.org/obo/DOID_1341 obsolete congenital anemia http://purl.obolibrary.org/obo/UBERON_0004670 ependyma http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/DOID_12105 inflammatory spondylopathy http://purl.obolibrary.org/obo/DOID_6590 spondylitis http://purl.obolibrary.org/obo/DOID_13416 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_13127 gonococcal spondylitis http://purl.obolibrary.org/obo/DOID_6590 spondylitis http://purl.obolibrary.org/obo/DOID_13468 obsolete primary genital syphilis http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/DOID_10991 basal ganglia cerebrovascular disease http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_13469 obsolete secondary cutaneous syphilis http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_11390 cerebral arteritis http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_13471 obsolete secondary syphilitic lymphadenitis http://purl.obolibrary.org/obo/UBERON_0007376 outer epithelium http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/DOID_13089 intracranial arterial disease http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_13480 obsolete paranoid type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/UBERON_0007601 ciliated epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/DOID_13100 intracranial vasospasm http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_13484 obsolete disorganized type schizophrenia chronic state http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/DOID_5976 occlusion precerebral artery http://purl.obolibrary.org/obo/DOID_6713 cerebrovascular disease http://purl.obolibrary.org/obo/DOID_13518 obsolete stiffness of joint http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/DOID_13535 obsolete intrapelvic lymph node mast cell malignancy http://purl.obolibrary.org/obo/DOID_14350 suppurative thyroiditis http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/DOID_13554 obsolete gonococcal peritonitis http://purl.obolibrary.org/obo/DOID_14351 Riedel's fibrosing thyroiditis http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/UBERON_0001136 mesothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/DOID_13555 obsolete pharyngeal gonorrhea http://purl.obolibrary.org/obo/DOID_14353 acute thyroiditis http://purl.obolibrary.org/obo/DOID_7166 thyroiditis http://purl.obolibrary.org/obo/UBERON_0002113 kidney http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_13556 obsolete gonococcal keratosis http://purl.obolibrary.org/obo/DOID_12577 urethral obstruction http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/UBERON_0002240 spinal cord http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_13558 obsolete gonococcal urethritis http://purl.obolibrary.org/obo/DOID_1343 urethritis http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/DOID_1356 obsolete lymphoma by site http://purl.obolibrary.org/obo/DOID_13461 urethral intrinsic sphincter deficiency http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/DOID_13562 obsolete glaucoma associated with pupillary block http://purl.obolibrary.org/obo/DOID_13498 urethral syndrome http://purl.obolibrary.org/obo/DOID_732 urethral disease http://purl.obolibrary.org/obo/UBERON_0003258 endoderm of foregut http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/DOID_13573 obsolete schizo-affective type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_620 blood protein disease http://purl.obolibrary.org/obo/DOID_74 hematopoietic system disease http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/DOID_13577 obsolete ascorbic acid deficiency http://purl.obolibrary.org/obo/DOID_11223 small intestine diverticulitis http://purl.obolibrary.org/obo/DOID_7475 diverticulitis http://purl.obolibrary.org/obo/UBERON_0000925 endoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/DOID_13581 obsolete magnesium deficiency http://purl.obolibrary.org/obo/DOID_2529 splenic disease http://purl.obolibrary.org/obo/DOID_75 lymphatic system disease http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/DOID_13582 obsolete potassium deficiency http://purl.obolibrary.org/obo/DOID_9942 lymph node disease http://purl.obolibrary.org/obo/DOID_75 lymphatic system disease http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/DOID_13583 obsolete fetal nutrition disorder http://purl.obolibrary.org/obo/DOID_10808 gastric ulcer http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/UBERON_0000362 renal medulla http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/DOID_13602 obsolete acute schizophrenic episode subchronic state http://purl.obolibrary.org/obo/DOID_10927 gastrojejunal ulcer http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/UBERON_0001365 sacro-iliac joint http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_13604 obsolete acute schizophrenic episode chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_1724 duodenal ulcer http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/UBERON_0002001 joint of rib http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/DOID_13605 obsolete acute schizophrenic episode chronic state http://purl.obolibrary.org/obo/DOID_13643 obsolete pneumococcal septicemia http://purl.obolibrary.org/obo/DOID_1159 functional gastric disease http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/UBERON_0002217 synovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/DOID_13644 obsolete streptococcal septicemia http://purl.obolibrary.org/obo/DOID_12070 Dieulafoy lesion http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/UBERON_0008114 joint of girdle http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/DOID_13648 obsolete paranoid state http://purl.obolibrary.org/obo/DOID_12072 pylorospasm http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/DOID_13650 obsolete joint disorder http://purl.obolibrary.org/obo/DOID_13668 obsolete meningococcal encephalitis http://purl.obolibrary.org/obo/DOID_12234 cascade stomach http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/UBERON_0000065 respiratory tract http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/DOID_13670 obsolete hypocalcemia and hypomagnesemia of newborn http://purl.obolibrary.org/obo/DOID_12642 hiatus hernia http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/UBERON_0001020 nervous system commissure http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/DOID_13679 obsolete simple type schizophrenia subchronic state http://purl.obolibrary.org/obo/DOID_3122 gastric outlet obstruction http://purl.obolibrary.org/obo/DOID_76 stomach disease http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/DOID_13680 obsolete simple type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_371 extracranial neuroblastoma http://purl.obolibrary.org/obo/DOID_769 neuroblastoma http://purl.obolibrary.org/obo/UBERON_0011591 tract of diencephalon http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/DOID_13681 obsolete simple type schizophrenia in remission http://purl.obolibrary.org/obo/DOID_4163 ganglioneuroblastoma http://purl.obolibrary.org/obo/DOID_769 neuroblastoma http://purl.obolibrary.org/obo/UBERON_0002473 intercerebral commissure http://purl.obolibrary.org/obo/UBERON_0019294 commissure of telencephalon http://purl.obolibrary.org/obo/DOID_13682 obsolete simple type schizophrenia chronic state http://purl.obolibrary.org/obo/DOID_750 peptic ulcer disease http://purl.obolibrary.org/obo/DOID_77 gastrointestinal system disease http://purl.obolibrary.org/obo/UBERON_0005970 brain commissure http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/DOID_13693 obsolete disorder of ureter http://purl.obolibrary.org/obo/DOID_11527 laryngostenosis http://purl.obolibrary.org/obo/DOID_786 laryngeal disease http://purl.obolibrary.org/obo/UBERON_0019294 commissure of telencephalon http://purl.obolibrary.org/obo/UBERON_0005970 brain commissure http://purl.obolibrary.org/obo/DOID_13694 obsolete unilateral vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/DOID_11766 blind hypotensive eye http://purl.obolibrary.org/obo/DOID_790 ocular hypotension http://purl.obolibrary.org/obo/UBERON_0001322 sciatic nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/DOID_13695 obsolete bilateral vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/DOID_12349 primary eye hypotony http://purl.obolibrary.org/obo/DOID_790 ocular hypotension http://purl.obolibrary.org/obo/UBERON_0035642 laryngeal nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/DOID_13696 obsolete vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/DOID_12573 neonatal thyrotoxicosis http://purl.obolibrary.org/obo/DOID_7997 thyrotoxicosis http://purl.obolibrary.org/obo/UBERON_0001027 sensory nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/DOID_13702 obsolete postpartum benign essential hypertension http://purl.obolibrary.org/obo/DOID_10719 toxic diffuse goiter http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism http://purl.obolibrary.org/obo/UBERON_0003431 leg nerve http://purl.obolibrary.org/obo/UBERON_0003442 hindlimb nerve http://purl.obolibrary.org/obo/DOID_1376 obsolete perinatal infectious disease http://purl.obolibrary.org/obo/DOID_11277 Plummer's disease http://purl.obolibrary.org/obo/DOID_7998 hyperthyroidism http://purl.obolibrary.org/obo/UBERON_0003440 limb nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/DOID_1378 obsolete uterine corpus mixed epithelial and mesenchymal tumor http://purl.obolibrary.org/obo/DOID_11269 chronic apical periodontitis http://purl.obolibrary.org/obo/DOID_823 periapical periodontitis http://purl.obolibrary.org/obo/UBERON_0003442 hindlimb nerve http://purl.obolibrary.org/obo/UBERON_0003440 limb nerve http://purl.obolibrary.org/obo/DOID_13817 obsolete single episode manic disease moderate degree http://purl.obolibrary.org/obo/DOID_11693 acute apical periodontitis http://purl.obolibrary.org/obo/DOID_823 periapical periodontitis http://purl.obolibrary.org/obo/UBERON_0011779 nerve of head region http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/DOID_13818 obsolete single episode manic disorder mild degree http://purl.obolibrary.org/obo/DOID_823 periapical periodontitis http://purl.obolibrary.org/obo/DOID_824 periodontitis http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomy http://purl.obolibrary.org/obo/DOID_13820 obsolete congenital pneumonia http://purl.obolibrary.org/obo/DOID_11242 plethora of newborn http://purl.obolibrary.org/obo/DOID_8432 polycythemia http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomy http://purl.obolibrary.org/obo/DOID_13837 obsolete convergence excess or spasm http://purl.obolibrary.org/obo/DOID_14495 dumping syndrome http://purl.obolibrary.org/obo/DOID_8439 postgastrectomy syndrome http://purl.obolibrary.org/obo/DOID_12108 bullous retinoschisis http://purl.obolibrary.org/obo/DOID_8465 retinoschisis http://purl.obolibrary.org/obo/UBERON_0003379 cardiac muscle of right atrium http://purl.obolibrary.org/obo/UBERON_0004490 cardiac muscle tissue of atrium http://purl.obolibrary.org/obo/DOID_1384 obsolete Chlamydia trachomatis urethritis http://purl.obolibrary.org/obo/DOID_12161 peripheral retinal degeneration http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration http://purl.obolibrary.org/obo/UBERON_0004490 cardiac muscle tissue of atrium http://purl.obolibrary.org/obo/UBERON_0004493 cardiac muscle tissue of myocardium http://purl.obolibrary.org/obo/DOID_13844 obsolete suppressed lactation - delivered http://purl.obolibrary.org/obo/DOID_8465 retinoschisis http://purl.obolibrary.org/obo/DOID_8466 retinal degeneration http://purl.obolibrary.org/obo/UBERON_0004493 cardiac muscle tissue of myocardium http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/DOID_13845 obsolete suppressed lactation http://purl.obolibrary.org/obo/UBERON_0010131 conducting tissue of heart http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/DOID_13094 branch retinal artery occlusion http://purl.obolibrary.org/obo/DOID_8483 retinal artery occlusion http://purl.obolibrary.org/obo/DOID_13850 obsolete acquired hallux varus http://purl.obolibrary.org/obo/DOID_13869 obsolete psychosexual dysfunction with male orgasmic disease http://purl.obolibrary.org/obo/UBERON_0003885 mesometrium http://purl.obolibrary.org/obo/UBERON_0002095 mesentery http://purl.obolibrary.org/obo/DOID_14522 partial arterial retinal occlusion http://purl.obolibrary.org/obo/DOID_8483 retinal artery occlusion http://purl.obolibrary.org/obo/UBERON_0004256 hindlimb zeugopod muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_13887 obsolete residual chronic schizophrenia http://purl.obolibrary.org/obo/DOID_11874 abnormal threshold of rods http://purl.obolibrary.org/obo/DOID_8499 night blindness http://purl.obolibrary.org/obo/UBERON_0012336 perianal skin http://purl.obolibrary.org/obo/UBERON_0001415 skin of pelvis http://purl.obolibrary.org/obo/DOID_13906 obsolete malignant pleural effusion http://purl.obolibrary.org/obo/DOID_13227 retinal dystrophies primarily involving Bruch's membrane http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/UBERON_0004088 orbital region http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/DOID_13923 obsolete acute psychogenic paranoid psychosis http://purl.obolibrary.org/obo/DOID_13954 obsolete mitotically active variant uterine corpus leiomyoma http://purl.obolibrary.org/obo/DOID_14251 vitreoretinal dystrophy http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/UBERON_0019241 pedal digit 1 or 5 http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/DOID_13962 obsolete peripheral focal retinitis and retinochoroiditis http://purl.obolibrary.org/obo/DOID_14252 dystrophies primarily involving the retinal pigment epithelium http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/UBERON_0002446 patella http://purl.obolibrary.org/obo/UBERON_0011141 appendicular ossicle http://purl.obolibrary.org/obo/DOID_13969 obsolete schizo-affective type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_14253 retinal dystrophy in systemic or cerebroretinal lipidoses http://purl.obolibrary.org/obo/DOID_8501 fundus dystrophy http://purl.obolibrary.org/obo/UBERON_0002428 limb bone http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/DOID_13970 obsolete schizo-affective type schizophrenia chronic state http://purl.obolibrary.org/obo/DOID_11907 ecthyma http://purl.obolibrary.org/obo/DOID_8504 impetigo http://purl.obolibrary.org/obo/UBERON_0002513 endochondral bone http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/DOID_13975 obsolete metastatic tumor to the brain stem http://purl.obolibrary.org/obo/DOID_12326 chronic pulmonary heart disease http://purl.obolibrary.org/obo/DOID_8515 Cor pulmonale http://purl.obolibrary.org/obo/UBERON_0002514 intramembranous bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_13995 obsolete secondary malignant neoplasm to the small Intestine http://purl.obolibrary.org/obo/DOID_1203 drug-induced mental disorder http://purl.obolibrary.org/obo/DOID_8646 substance-induced psychosis http://purl.obolibrary.org/obo/UBERON_0003457 head bone http://purl.obolibrary.org/obo/UBERON_0007914 bone of craniocervical region http://purl.obolibrary.org/obo/DOID_14001 obsolete diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder http://purl.obolibrary.org/obo/DOID_1195 ischemic neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy http://purl.obolibrary.org/obo/UBERON_0003460 arm bone http://purl.obolibrary.org/obo/UBERON_0008962 forelimb bone http://purl.obolibrary.org/obo/DOID_1402 obsolete agalactia http://purl.obolibrary.org/obo/DOID_9743 diabetic neuropathy http://purl.obolibrary.org/obo/DOID_870 neuropathy http://purl.obolibrary.org/obo/UBERON_0003461 shoulder bone http://purl.obolibrary.org/obo/UBERON_0010741 bone of pectoral complex http://purl.obolibrary.org/obo/DOID_12731 pars planitis http://purl.obolibrary.org/obo/DOID_8886 chorioretinitis http://purl.obolibrary.org/obo/DOID_14038 obsolete precocious puberty http://purl.obolibrary.org/obo/DOID_14041 obsolete endocrine tuberculosis http://purl.obolibrary.org/obo/UBERON_0003462 facial bone http://purl.obolibrary.org/obo/UBERON_0003457 head bone http://purl.obolibrary.org/obo/UBERON_0003464 hindlimb bone http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/DOID_1979 focal chorioretinitis http://purl.obolibrary.org/obo/DOID_8886 chorioretinitis http://purl.obolibrary.org/obo/DOID_14044 obsolete rheumatic pericarditis http://purl.obolibrary.org/obo/UBERON_0003466 forelimb zeugopod bone http://purl.obolibrary.org/obo/UBERON_0003460 arm bone http://purl.obolibrary.org/obo/DOID_13207 proliferative diabetic retinopathy http://purl.obolibrary.org/obo/DOID_8947 diabetic retinopathy http://purl.obolibrary.org/obo/DOID_14045 obsolete syndrome of infant of a diabetic mother http://purl.obolibrary.org/obo/UBERON_0003826 upper leg bone http://purl.obolibrary.org/obo/UBERON_0005893 leg bone http://purl.obolibrary.org/obo/DOID_13208 background diabetic retinopathy http://purl.obolibrary.org/obo/DOID_8947 diabetic retinopathy http://purl.obolibrary.org/obo/DOID_14056 obsolete rheumatic endocarditis http://purl.obolibrary.org/obo/UBERON_0004247 bone of dorsum http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/UBERON_0004250 upper arm bone http://purl.obolibrary.org/obo/UBERON_0003460 arm bone http://purl.obolibrary.org/obo/DOID_14548 steroid-induced glaucoma - borderline http://purl.obolibrary.org/obo/DOID_9283 borderline glaucoma http://purl.obolibrary.org/obo/DOID_11175 enophthalmos http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_14063 obsolete acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/UBERON_0004251 hindlimb zeugopod bone http://purl.obolibrary.org/obo/UBERON_0005893 leg bone http://purl.obolibrary.org/obo/DOID_11230 acute orbital inflammation http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_14072 obsolete neoplastic pregnancy complications http://purl.obolibrary.org/obo/UBERON_0004375 bone of free limb or fin http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/DOID_12359 endocrine exophthalmos http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_14090 obsolete heartwater disease http://purl.obolibrary.org/obo/UBERON_0004376 fin bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_12360 lateral displacement of eye http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_14108 obsolete syphilitic peritonitis http://purl.obolibrary.org/obo/UBERON_0004766 cranial bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_12363 intermittent proptosis http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_14114 obsolete congenital adhesion of tongue http://purl.obolibrary.org/obo/UBERON_0004768 bone of lower jaw http://purl.obolibrary.org/obo/UBERON_0012360 bone of jaw http://purl.obolibrary.org/obo/DOID_12364 pulsating exophthalmos http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_14117 obsolete group A hyperlipidemia http://purl.obolibrary.org/obo/UBERON_0005893 leg bone http://purl.obolibrary.org/obo/UBERON_0003464 hindlimb bone http://purl.obolibrary.org/obo/DOID_1397 chronic orbital inflammation http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_14233 orbital cyst http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_14459 hemangioma of orbit http://purl.obolibrary.org/obo/DOID_930 orbital disease http://purl.obolibrary.org/obo/DOID_14157 obsolete malnutrition of mild degree http://purl.obolibrary.org/obo/UBERON_0007842 membrane bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_11581 phlyctenulosis http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_14163 obsolete metastatic malignant tumor to the anus http://purl.obolibrary.org/obo/DOID_12125 neurotrophic keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_14178 obsolete immunodeficiency with increased IgM http://purl.obolibrary.org/obo/UBERON_0007914 bone of craniocervical region http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_14182 obsolete metastatic tumor to the choroid http://purl.obolibrary.org/obo/DOID_12197 punctate epithelial keratoconjunctivitis http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/UBERON_0008193 pneumatized bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_1419 obsolete residual schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_13014 shipyard eye http://purl.obolibrary.org/obo/DOID_9368 keratoconjunctivitis http://purl.obolibrary.org/obo/UBERON_0008202 bone of hip region http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0008907 dermal bone http://purl.obolibrary.org/obo/UBERON_0007842 membrane bone http://purl.obolibrary.org/obo/DOID_10443 hypopyon http://purl.obolibrary.org/obo/DOID_9383 iridocyclitis http://purl.obolibrary.org/obo/DOID_14190 obsolete shared paranoid disease http://purl.obolibrary.org/obo/DOID_10802 acute gonococcal epididymo-orchitis http://purl.obolibrary.org/obo/DOID_9401 epididymo-orchitis http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_14191 obsolete simple paranoid state http://purl.obolibrary.org/obo/UBERON_0010741 bone of pectoral complex http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/DOID_10648 acute inferoposterior infarction http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/DOID_14200 obsolete diplopia http://purl.obolibrary.org/obo/UBERON_0010742 bone of pelvic complex http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/DOID_10649 acute inferolateral myocardial infarction http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/DOID_10651 acute anterolateral myocardial infarction http://purl.obolibrary.org/obo/DOID_9408 acute myocardial infarction http://purl.obolibrary.org/obo/DOID_14215 obsolete hyperamylasemia http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/DOID_13823 parasitic eyelid infestation http://purl.obolibrary.org/obo/DOID_9423 blepharitis http://purl.obolibrary.org/obo/DOID_14258 obsolete leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/UBERON_0012360 bone of jaw http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_13825 squamous blepharitis http://purl.obolibrary.org/obo/DOID_9423 blepharitis http://purl.obolibrary.org/obo/DOID_14263 obsolete fits in newborn http://purl.obolibrary.org/obo/UBERON_0013630 short bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/DOID_11459 pseudotumor cerebri http://purl.obolibrary.org/obo/DOID_9428 intracranial hypertension http://purl.obolibrary.org/obo/DOID_1427 obsolete disorder of pancreatic internal secretion http://purl.obolibrary.org/obo/UBERON_0001258 neck of urinary bladder http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/DOID_14268 sclerosing cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/DOID_14278 obsolete arthropathy of the hand http://purl.obolibrary.org/obo/UBERON_0003831 respiratory system muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/DOID_14269 suppurative cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/DOID_14312 obsolete nontoxic uninodular goiter http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/DOID_14270 ascending cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/DOID_14313 obsolete thyroid nodule http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/DOID_14327 obsolete gonococcal pericarditis http://purl.obolibrary.org/obo/DOID_14271 acute cholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/UBERON_0001675 trigeminal ganglion http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/DOID_14339 obsolete paraphrenia http://purl.obolibrary.org/obo/DOID_14272 pericholangitis http://purl.obolibrary.org/obo/DOID_9446 cholangitis http://purl.obolibrary.org/obo/UBERON_0012069 epithelium-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0003830 thoracic segment muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_14363 obsolete congenital syphilitic meningitis http://purl.obolibrary.org/obo/DOID_14503 neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/DOID_9455 lipid storage disease http://purl.obolibrary.org/obo/UBERON_0001813 spinal nerve plexus http://purl.obolibrary.org/obo/UBERON_0001810 nerve plexus http://purl.obolibrary.org/obo/DOID_14401 obsolete cutis marmorata http://purl.obolibrary.org/obo/DOID_14559 anaerobic meningitis http://purl.obolibrary.org/obo/DOID_9470 bacterial meningitis http://purl.obolibrary.org/obo/UBERON_0001736 submandibular gland http://purl.obolibrary.org/obo/UBERON_0001829 major salivary gland http://purl.obolibrary.org/obo/DOID_1442 obsolete Alpers syndrome http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_12156 arachnoiditis http://purl.obolibrary.org/obo/DOID_9471 meningitis http://purl.obolibrary.org/obo/DOID_14425 obsolete secondary malignant neoplasm of intra-abdominal lymph node http://purl.obolibrary.org/obo/UBERON_0003498 heart blood vessel http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/DOID_12524 plantar nerve lesion http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/DOID_14426 obsolete secondary malignant neoplasm of intrathoracic lymph node http://purl.obolibrary.org/obo/UBERON_0003501 retina blood vessel http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/DOID_12527 common peroneal nerve lesion http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/DOID_14467 obsolete drug-induced persisting amnestic disease http://purl.obolibrary.org/obo/UBERON_0003504 respiratory system blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_12528 lesion of sciatic nerve http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_14490 obsolete metastasis to the ureter http://purl.obolibrary.org/obo/DOID_14492 obsolete metastatic neoplasm of ureter http://purl.obolibrary.org/obo/UBERON_0003514 limb blood vessel http://purl.obolibrary.org/obo/UBERON_0007301 appendage blood vessel http://purl.obolibrary.org/obo/DOID_12529 tibial nerve palsy http://purl.obolibrary.org/obo/DOID_9473 mononeuritis of lower limb http://purl.obolibrary.org/obo/UBERON_0003516 hindlimb blood vessel http://purl.obolibrary.org/obo/UBERON_0003514 limb blood vessel http://purl.obolibrary.org/obo/DOID_145 obsolete papilledema associated with retinal disorder http://purl.obolibrary.org/obo/DOID_12809 chronic lacrimal gland enlargement http://purl.obolibrary.org/obo/DOID_950 dacryoadenitis http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_14518 obsolete Idiopathic cysts of iris and ciliary body http://purl.obolibrary.org/obo/DOID_12986 leukostasis http://purl.obolibrary.org/obo/DOID_9500 leukocyte disease http://purl.obolibrary.org/obo/UBERON_0003834 thoracic segment blood vessel http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel http://purl.obolibrary.org/obo/DOID_14521 obsolete cutaneous breast cancer http://purl.obolibrary.org/obo/DOID_12257 medulloadrenal hyperfunction http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_14530 obsolete syringomyelia and syringobulbia http://purl.obolibrary.org/obo/DOID_14539 obsolete metastasis to heart http://purl.obolibrary.org/obo/DOID_14542 obsolete macular or paramacular focal retinitis and retinochoroiditis http://purl.obolibrary.org/obo/DOID_3947 adrenal gland hyperfunction http://purl.obolibrary.org/obo/DOID_9553 adrenal gland disease http://purl.obolibrary.org/obo/UBERON_0007301 appendage blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_14549 obsolete Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear http://purl.obolibrary.org/obo/DOID_13664 post-vaccinal encephalitis http://purl.obolibrary.org/obo/DOID_9588 encephalitis http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/DOID_14558 obsolete nontoxic multinodular goiter http://purl.obolibrary.org/obo/DOID_11875 denture stomatitis http://purl.obolibrary.org/obo/DOID_9637 stomatitis http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/UBERON_0002293 costochondral joint http://purl.obolibrary.org/obo/UBERON_0002215 synchondrosis http://purl.obolibrary.org/obo/DOID_1465 obsolete Salmonella septicemia http://purl.obolibrary.org/obo/DOID_1466 obsolete Salmonella infectious disease http://purl.obolibrary.org/obo/DOID_11771 spontaneous ocular nystagmus http://purl.obolibrary.org/obo/DOID_9650 pathologic nystagmus http://purl.obolibrary.org/obo/UBERON_0003528 brain gray matter http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0007245 nuclear complex of neuraxis http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue http://purl.obolibrary.org/obo/UBERON_8600006 visceral striated muscle tissue http://purl.obolibrary.org/obo/DOID_14676 obsolete congenital contricting bands http://purl.obolibrary.org/obo/DOID_13174 dissociated nystagmus http://purl.obolibrary.org/obo/DOID_9650 pathologic nystagmus http://purl.obolibrary.org/obo/UBERON_8600006 visceral striated muscle tissue http://purl.obolibrary.org/obo/UBERON_8600004 visceral muscle tissue http://purl.obolibrary.org/obo/DOID_14680 obsolete hereditary inflammatory vasculitis http://purl.obolibrary.org/obo/DOID_14192 bicipital tenosynovitis http://purl.obolibrary.org/obo/DOID_970 tenosynovitis http://purl.obolibrary.org/obo/DOID_10471 patellar tendinitis http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/DOID_10810 tibialis tendinitis http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/DOID_1469 obsolete single major depressive episode in full remission http://purl.obolibrary.org/obo/UBERON_0002200 vasculature of head http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/DOID_14181 calcific tendinitis http://purl.obolibrary.org/obo/DOID_971 tendinitis http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/DOID_14727 obsolete dominant cogenital severe sensorineural deafness http://purl.obolibrary.org/obo/DOID_14739 obsolete progressive high-tone neural deafness http://purl.obolibrary.org/obo/DOID_14787 obsolete Fryns syndrome http://purl.obolibrary.org/obo/DOID_11816 vitreous syneresis http://purl.obolibrary.org/obo/DOID_9720 vitreous disease http://purl.obolibrary.org/obo/UBERON_0004864 vasculature of retina http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0005629 vascular plexus http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/DOID_1486 obsolete secondary syphilitic chorioretinitis http://purl.obolibrary.org/obo/DOID_1487 obsolete secondary syphilitic uveitis http://purl.obolibrary.org/obo/DOID_10697 chronic endophthalmitis http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/DOID_1491 obsolete corneal anesthesia and hypoesthesia http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/DOID_1499 obsolete Vibrio infectious disease http://purl.obolibrary.org/obo/DOID_11752 acute endophthalmitis http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/DOID_1511 obsolete residual schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_13732 panophthalmitis http://purl.obolibrary.org/obo/DOID_9724 purulent endophthalmitis http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/DOID_1515 obsolete mitral valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_2825 nose disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/DOID_3225 tracheal disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/DOID_1516 obsolete syphilitic endocarditis http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/DOID_786 laryngeal disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/DOID_1528 obsolete penile non-neoplastic disease http://purl.obolibrary.org/obo/UBERON_0010391 parametrium http://purl.obolibrary.org/obo/UBERON_0003885 mesometrium http://purl.obolibrary.org/obo/DOID_9561 nasopharyngeal disease http://purl.obolibrary.org/obo/DOID_974 upper respiratory tract disease http://purl.obolibrary.org/obo/DOID_1530 obsolete male non-neoplastic reproductive system disease http://purl.obolibrary.org/obo/DOID_1543 obsolete metastatic neoplasm of parathyroid http://purl.obolibrary.org/obo/UBERON_0002085 interatrial septum http://purl.obolibrary.org/obo/UBERON_0002099 cardiac septum http://purl.obolibrary.org/obo/DOID_13409 perforation of bile duct http://purl.obolibrary.org/obo/DOID_9741 biliary tract disease http://purl.obolibrary.org/obo/DOID_155 obsolete glandular and epithelial neoplasm http://purl.obolibrary.org/obo/UBERON_0002094 interventricular septum http://purl.obolibrary.org/obo/UBERON_0002099 cardiac septum http://purl.obolibrary.org/obo/DOID_12337 varicocele http://purl.obolibrary.org/obo/DOID_9742 pelvic varices http://purl.obolibrary.org/obo/DOID_1550 obsolete gestational diabetes complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/UBERON_0005989 atrioventricular septum http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/DOID_12785 diabetic polyneuropathy http://purl.obolibrary.org/obo/DOID_9743 diabetic neuropathy http://purl.obolibrary.org/obo/DOID_1568 obsolete calculus of gallbladder and bile duct with acute and chronic cholecystitis http://purl.obolibrary.org/obo/UBERON_0002134 tricuspid valve http://purl.obolibrary.org/obo/UBERON_0005208 right atrium valve http://purl.obolibrary.org/obo/DOID_1585 obsolete rheumatic pneumonia http://purl.obolibrary.org/obo/DOID_11772 leukocoria http://purl.obolibrary.org/obo/DOID_9799 eye degenerative disease http://purl.obolibrary.org/obo/UBERON_0001776 optic choroid http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/DOID_159 obsolete mesothelial neoplasm http://purl.obolibrary.org/obo/DOID_11850 transient refractive change http://purl.obolibrary.org/obo/DOID_9835 refractive error http://purl.obolibrary.org/obo/UBERON_0002215 synchondrosis http://purl.obolibrary.org/obo/UBERON_0002213 cartilaginous joint http://purl.obolibrary.org/obo/DOID_1592 obsolete secondary malignant neoplasm of retroperitoneum and peritoneum http://purl.obolibrary.org/obo/DOID_12273 anisometropia http://purl.obolibrary.org/obo/DOID_9835 refractive error http://purl.obolibrary.org/obo/UBERON_0003685 cranial suture http://purl.obolibrary.org/obo/UBERON_0009198 craniofacial suture http://purl.obolibrary.org/obo/DOID_1593 obsolete metastasis to the peritoneum http://purl.obolibrary.org/obo/DOID_13490 active cochleovestibular Meniere's disease http://purl.obolibrary.org/obo/DOID_9849 Meniere's disease http://purl.obolibrary.org/obo/UBERON_0009198 craniofacial suture http://purl.obolibrary.org/obo/UBERON_0002209 fibrous joint http://purl.obolibrary.org/obo/DOID_1597 obsolete single episode mild major depression http://purl.obolibrary.org/obo/DOID_13491 active vestibular Meniere's disease http://purl.obolibrary.org/obo/DOID_9849 Meniere's disease http://purl.obolibrary.org/obo/UBERON_0009623 spinal nerve root http://purl.obolibrary.org/obo/UBERON_0002211 nerve root http://purl.obolibrary.org/obo/DOID_1599 obsolete single episode moderate major depression http://purl.obolibrary.org/obo/DOID_13492 active cochlear Meniere's disease http://purl.obolibrary.org/obo/DOID_9849 Meniere's disease http://purl.obolibrary.org/obo/DOID_1620 obsolete breast fibroepithelial tumor http://purl.obolibrary.org/obo/UBERON_0011107 synovial joint of pelvic girdle http://purl.obolibrary.org/obo/UBERON_0008114 joint of girdle http://purl.obolibrary.org/obo/DOID_13353 diffuse interstitial keratitis http://purl.obolibrary.org/obo/DOID_9857 interstitial keratitis http://purl.obolibrary.org/obo/UBERON_0001820 sweat gland http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/DOID_1624 obsolete breast soft tissue tumor http://purl.obolibrary.org/obo/DOID_11543 corneal abscess http://purl.obolibrary.org/obo/DOID_9858 deep keratitis http://purl.obolibrary.org/obo/UBERON_0002107 liver http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/DOID_163 obsolete mucoepidermoid tumor http://purl.obolibrary.org/obo/DOID_11719 oculopharyngeal muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy http://purl.obolibrary.org/obo/UBERON_0000409 serous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/DOID_1634 obsolete breast papillomatosis http://purl.obolibrary.org/obo/DOID_11727 facioscapulohumeral muscular dystrophy http://purl.obolibrary.org/obo/DOID_9884 muscular dystrophy http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/DOID_164 obsolete cystic, mucinous, and serous neoplasm http://purl.obolibrary.org/obo/DOID_12996 acute dacryocystitis http://purl.obolibrary.org/obo/DOID_9938 dacryocystitis http://purl.obolibrary.org/obo/UBERON_0010047 oral gland http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/DOID_1661 obsolete malignant intracranial germ cell neoplasm http://purl.obolibrary.org/obo/DOID_12997 Phlegmonous dacryocystitis http://purl.obolibrary.org/obo/DOID_9938 dacryocystitis http://purl.obolibrary.org/obo/UBERON_0010243 merocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0012344 holocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/DOID_1666 obsolete hip enthesopathy http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/DOID_13585 alveolar periostitis http://purl.obolibrary.org/obo/DOID_9957 periostitis http://purl.obolibrary.org/obo/DOID_11981 morbid obesity http://purl.obolibrary.org/obo/DOID_9970 obesity http://purl.obolibrary.org/obo/DOID_1667 obsolete peripheral enthesopathy http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/HP_0410008 Abnormality of the peripheral nervous system http://purl.obolibrary.org/obo/HP_0000707 Abnormality of the nervous system http://purl.obolibrary.org/obo/DOID_1685 obsolete glaucoma associated with vascular disorder http://purl.obolibrary.org/obo/DOID_1695 obsolete congenital ichthyosis http://purl.obolibrary.org/obo/UBERON_0007771 epidermis gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/HP_0040068 Abnormality of limb bone http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/DOID_1699 obsolete congenital ichthyosiform erythroderma http://purl.obolibrary.org/obo/UBERON_0008962 forelimb bone http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/HP_0001480 Freckling http://purl.obolibrary.org/obo/HP_0001000 Abnormal skin pigmentation http://purl.obolibrary.org/obo/DOID_1709 obsolete rickettsiosis http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/HP_0004326 Cachexia http://purl.obolibrary.org/obo/HP_0001824 Weight loss http://purl.obolibrary.org/obo/DOID_1741 obsolete drug-induced psychotic disease with delusion http://purl.obolibrary.org/obo/UBERON_0001535 vertebral artery http://purl.obolibrary.org/obo/UBERON_0002458 spinal artery http://purl.obolibrary.org/obo/HP_0033100 Increased proteinogenic amino acid level in urine http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/DOID_1744 obsolete malignant lymphatic vessel tumor http://purl.obolibrary.org/obo/UBERON_0002387 foot http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/NCBITaxon_11077 Kunjin virus http://purl.obolibrary.org/obo/NCBITaxon_11082 West Nile virus http://purl.obolibrary.org/obo/DOID_2214 obsolete inherited blood coagulation disease http://purl.obolibrary.org/obo/UBERON_0002398 hand http://purl.obolibrary.org/obo/UBERON_0008785 upper limb segment http://purl.obolibrary.org/obo/NCBITaxon_121224 Pediculus humanus corporis http://purl.obolibrary.org/obo/NCBITaxon_121225 Pediculus humanus http://purl.obolibrary.org/obo/DOID_2481 obsolete infantile epileptic encephalopathy http://purl.obolibrary.org/obo/UBERON_0002336 corpus callosum http://purl.obolibrary.org/obo/UBERON_0005340 dorsal telencephalic commissure http://purl.obolibrary.org/obo/NCBITaxon_11053 dengue virus type 1 http://purl.obolibrary.org/obo/NCBITaxon_12637 Dengue virus http://purl.obolibrary.org/obo/DOID_715 obsolete T-cell lymphoblastic leukemia/lymphoma http://purl.obolibrary.org/obo/UBERON_0001677 sphenoid bone http://purl.obolibrary.org/obo/UBERON_0015060 sphenoid endochondral element http://purl.obolibrary.org/obo/NCBITaxon_47466 Borrelia miyamotoi http://purl.obolibrary.org/obo/NCBITaxon_138 Borrelia http://purl.obolibrary.org/obo/NCBITaxon_1639 Listeria monocytogenes http://purl.obolibrary.org/obo/NCBITaxon_1637 Listeria http://purl.obolibrary.org/obo/NCBITaxon_1 ncbitaxon http://purl.obolibrary.org/obo/UBERON_0002228 rib http://purl.obolibrary.org/obo/UBERON_0015019 rib endochondral element http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/UBERON_0001062 anatomy http://purl.obolibrary.org/obo/UBERON_2001364 hemal spine http://purl.obolibrary.org/obo/UBERON_0004247 bone of dorsum http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/UBERON_0002165 endocardium http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/NCBITaxon_172148 Alkhumra hemorrhagic fever virus http://purl.obolibrary.org/obo/NCBITaxon_33743 Kyasanur Forest disease virus http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/UBERON_0002470 autopod region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/NCBITaxon_34620 Dermacentor andersoni http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/DOID_0080220 obsolete major affective disorder 1 http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/NCBITaxon_34621 Dermacentor variabilis http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/DOID_0080221 obsolete major affective disorder 2 http://purl.obolibrary.org/obo/UBERON_0008785 upper limb segment http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/NCBITaxon_49202 Dermacentor marginatus http://purl.obolibrary.org/obo/NCBITaxon_34619 Dermacentor http://purl.obolibrary.org/obo/DOID_0080229 obsolete autosomal dominant mental retardation 61 http://purl.obolibrary.org/obo/UBERON_0001044 saliva-secreting gland http://purl.obolibrary.org/obo/UBERON_0010047 oral gland http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/DOID_0080340 obsolete X-linked dominant disease http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_112252 Fungi incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/DOID_0080341 obsolete X-linked recessive disease http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/doid#chebi chebi http://purl.obolibrary.org/obo/UBERON_0002419 skin gland http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/DOID_0080783 obsolete X-linked sensorineural deafness http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_2036922 Cladosporium cf. cladosporoides http://purl.obolibrary.org/obo/NCBITaxon_5498 Cladosporium http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_523103 Trichophyton mentagrophytes http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/NCBITaxon_63417 Trichophyton verrucosum http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/DOID_0070175 obsolete spermatogenic failure 9 http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/NCBITaxon_63418 Trichophyton equinum http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004859 eye gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_63419 Trichophyton concentricum http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/MIM_607681 obsolete susceptibility to childhood absence epilepsy 2 http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_5553 Trichosporon beigelii http://purl.obolibrary.org/obo/NCBITaxon_5552 Trichosporon http://purl.obolibrary.org/obo/MIM_615032 obsolete susceptibility to autism 18 http://purl.obolibrary.org/obo/UBERON_0006868 seminal fluid secreting gland http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/NCBITaxon_418103 Plasmodium http://purl.obolibrary.org/obo/NCBITaxon_5820 Plasmodium http://purl.obolibrary.org/obo/MIM_616568 obsolete glioma susceptibility 9 http://purl.obolibrary.org/obo/UBERON_0015152 gland of ocular region http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_418107 Laverania http://purl.obolibrary.org/obo/NCBITaxon_5820 Plasmodium http://purl.obolibrary.org/obo/RO_0002202 develops from http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/UBERON_0002389 finger http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/NCBITaxon_29930 Ixodes pacificus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/UBERON_0001466 toe http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/NCBITaxon_34613 Ixodes ricinus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to http://purl.obolibrary.org/obo/UBERON_0006048 digit 1 http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/NCBITaxon_65647 Ixodes holocyclus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 has characteristic http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/NCBITaxon_6945 Ixodes scapularis http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/RO_0007001 has disease driver http://purl.obolibrary.org/obo/RO_0007000 has driver http://purl.obolibrary.org/obo/UBERON_0001707 nasal cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/NCBITaxon_34615 Ixodes persulcatus http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/RO_0002452 has symptom http://purl.obolibrary.org/obo/RO_0002200 has phenotype http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/NCBITaxon_53542 Finlaya http://purl.obolibrary.org/obo/NCBITaxon_7158 Aedes http://purl.obolibrary.org/obo/RO_0002241 has exposure stressor http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/UBERON_0003728 mediastinum http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/NCBITaxon_53541 Stegomyia http://purl.obolibrary.org/obo/NCBITaxon_7158 Aedes http://purl.obolibrary.org/obo/RO_0002200 has phenotype http://purl.obolibrary.org/obo/RO_0016001 has phenotype or disease http://purl.obolibrary.org/obo/UBERON_0001179 peritoneal cavity http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/NCBITaxon_53527 Culex http://purl.obolibrary.org/obo/NCBITaxon_7174 Culex http://purl.obolibrary.org/obo/RO_0001020 is allergic trigger for http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/UBERON_0002402 pleural cavity http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/NCBITaxon_780 Rickettsia http://purl.obolibrary.org/obo/RO_0001021 is autoimmune trigger for http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/UBERON_0004704 bone fossa http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/NCBITaxon_114292 typhus group http://purl.obolibrary.org/obo/NCBITaxon_780 Rickettsia http://purl.obolibrary.org/obo/RO_0003304 contributes to condition http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/UBERON_0004867 orbital cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/NCBITaxon_226665 Rickettsia conorii subsp. heilongjiangensis http://purl.obolibrary.org/obo/NCBITaxon_781 Rickettsia conorii http://purl.obolibrary.org/obo/RO_0003303 causes condition http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/UBERON_0013411 cranial cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/UBERON_0001085 skin of trunk http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/RO_0001022 has allergic trigger http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/UBERON_0001415 skin of pelvis http://purl.obolibrary.org/obo/UBERON_0003836 abdominal segment skin http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/UBERON_0003836 abdominal segment skin http://purl.obolibrary.org/obo/UBERON_0001085 skin of trunk http://purl.obolibrary.org/obo/UBERON_0035014 functional part of brain http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/UBERON_0015474 axilla skin http://purl.obolibrary.org/obo/UBERON_8480025 skin of clavicle region http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/UBERON_0001898 hypothalamus http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_8410021 inguinal region skin http://purl.obolibrary.org/obo/UBERON_0003836 abdominal segment skin http://purl.obolibrary.org/obo/UBERON_8480025 skin of clavicle region http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/UBERON_8480029 skin of external genitalia http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/UBERON_0000970 eye http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_0001723 tongue http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0002099 cardiac septum http://purl.obolibrary.org/obo/UBERON_0003037 septum http://purl.obolibrary.org/obo/RO_0002220 adjacent to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/UBERON_0001690 ear http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0001833 lip http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to http://purl.obolibrary.org/obo/UBERON_0002268 olfactory organ http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to http://purl.obolibrary.org/obo/UBERON_0010230 eyeball of camera-type eye http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/RO_0004005 has major susceptibility factor http://purl.obolibrary.org/obo/RO_0004000 condition has genetic basis in http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/RO_0004000 condition has genetic basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/UBERON_0001004 respiratory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/UBERON_0001016 nervous system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0002299 alveolus of lung http://purl.obolibrary.org/obo/UBERON_0003215 alveolus http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/UBERON_0001750 lacrimal apparatus http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/UBERON_0002351 sinoatrial node http://purl.obolibrary.org/obo/UBERON_0010131 conducting tissue of heart http://purl.obolibrary.org/obo/UBERON_0002204 musculoskeletal system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/UBERON_0001739 laryngeal cartilage http://purl.obolibrary.org/obo/UBERON_0011004 pharyngeal arch cartilage http://purl.obolibrary.org/obo/UBERON_0002330 exocrine system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/UBERON_0001323 tibial nerve http://purl.obolibrary.org/obo/UBERON_0003431 leg nerve http://purl.obolibrary.org/obo/UBERON_0002416 integumental system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/UBERON_0001423 radius bone http://purl.obolibrary.org/obo/UBERON_0015001 radius endochondral element http://purl.obolibrary.org/obo/UBERON_0004535 cardiovascular system http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/UBERON_0004087 vena cava http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/UBERON_0005409 alimentary part of gastrointestinal system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/RO_0007000 has driver A relation between two entities, in which one of the entities is any natural or human-influenced factor that directly or indirectly causes a change in the other entity. http://purl.obolibrary.org/obo/UBERON_0001673 central retinal vein http://purl.obolibrary.org/obo/UBERON_0009141 craniocervical region vein http://purl.obolibrary.org/obo/UBERON_0004122 genitourinary system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/IDO_0000664 has material basis in Relating the disease to it’s causation (disease and disorder). http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_8450002 excretory system http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/RO#_is_a is_a Relation defining child to partent inheritance type. http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/RO_0002324 developmentally related to http://purl.obolibrary.org/obo/UBERON_0003221 phalanx http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0001829 major salivary gland http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/RO_0000053 has characteristic http://purl.obolibrary.org/obo/UBERON_0000981 femur http://purl.obolibrary.org/obo/UBERON_0015052 femur endochondral element http://purl.obolibrary.org/obo/UBERON_0012102 buccal salivary gland http://purl.obolibrary.org/obo/UBERON_0001044 saliva-secreting gland http://purl.obolibrary.org/obo/RO_0001000 derives from http://purl.obolibrary.org/obo/UBERON_0003663 hindlimb muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0001184 renal artery http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/RO_0003000 produces http://purl.obolibrary.org/obo/UBERON_0001383 muscle of leg http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/RO_0003001 produced by http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary artery http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/UBERON_0002491 lambdoid suture http://purl.obolibrary.org/obo/UBERON_0003685 cranial suture http://purl.obolibrary.org/obo/RO_0016001 has phenotype or disease http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/UBERON_2005036 supraintestinal artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0001103 diaphragm http://purl.obolibrary.org/obo/UBERON_0003831 respiratory system muscle http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/UBERON_0035307 branch of vertebral artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0001091 calcareous tooth http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/so#has_origin has_origin http://purl.obolibrary.org/obo/UBERON_0001194 splenic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/UBERON_0001620 central retinal artery http://purl.obolibrary.org/obo/UBERON_0003501 retina blood vessel http://purl.obolibrary.org/obo/UBERON_0007502 epithelial plexus http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to http://purl.obolibrary.org/obo/RO_0002321 ecologically related to http://purl.obolibrary.org/obo/UBERON_0002458 spinal artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0006615 venous sinus http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/UBERON_0004449 cerebral artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0011004 pharyngeal arch cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0005208 right atrium valve http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0005616 mesenteric artery http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/UBERON_0004014 labium minora http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0001724 sphenoidal sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/UBERON_0004085 labium majora http://purl.obolibrary.org/obo/UBERON_0004084 genital labium http://purl.obolibrary.org/obo/UBERON_0000159 anal canal http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0001760 frontal sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/UBERON_0003959 rete testis http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0001764 maxillary sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0002453 ethmoid sinus http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0002372 tonsil http://purl.obolibrary.org/obo/UBERON_0001962 gut-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0001962 gut-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001961 mucosa-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001352 external acoustic meatus http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0012330 nasal-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001962 gut-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0000007 pituitary gland http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0005744 bone foramen http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0011859 internal acoustic meatus http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0001132 parathyroid gland http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/UBERON_0002046 thyroid gland http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0002367 prostate gland http://purl.obolibrary.org/obo/UBERON_0010147 male accessory sex gland http://purl.obolibrary.org/obo/UBERON_0002370 thymus http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0006858 adrenal/interrenal gland http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000056 ureter http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/UBERON_0000948 heart http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000114 lung connective tissue http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000989 penis http://purl.obolibrary.org/obo/UBERON_0008811 intromittent organ http://purl.obolibrary.org/obo/UBERON_0001013 adipose tissue http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0000996 vagina http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0000998 seminal vesicle http://purl.obolibrary.org/obo/UBERON_0006868 seminal fluid secreting gland http://purl.obolibrary.org/obo/UBERON_0003570 respiratory system connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0003889 fallopian tube http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0003580 lower respiratory tract connective tissue http://purl.obolibrary.org/obo/UBERON_0003570 respiratory system connective tissue http://purl.obolibrary.org/obo/UBERON_0006589 round ligament of uterus http://purl.obolibrary.org/obo/UBERON_0008845 nonskeletal ligament http://purl.obolibrary.org/obo/UBERON_0001533 subclavian artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0003586 trunk connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0000966 retina http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0003837 thoracic segment connective tissue http://purl.obolibrary.org/obo/UBERON_0003586 trunk connective tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0001017 central nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/UBERON_2000364 hypural http://purl.obolibrary.org/obo/UBERON_2001364 hemal spine http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0019231 manual digit 1 or 5 http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/UBERON_0008789 cranial fossa http://purl.obolibrary.org/obo/UBERON_0004704 bone fossa http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0004913 hepatopancreatic ampulla http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/UBERON_0003135 male reproductive organ http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like structure http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0008811 intromittent organ http://purl.obolibrary.org/obo/UBERON_0003135 male reproductive organ http://purl.obolibrary.org/obo/UBERON_0000029 lymph node http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0004756 dermal skeletal element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0002106 spleen http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0001385 tibialis anterior http://purl.obolibrary.org/obo/UBERON_0008230 tibialis http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_8440011 cortical visual area http://purl.obolibrary.org/obo/UBERON_0035014 functional part of brain http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0001299 glans penis http://purl.obolibrary.org/obo/UBERON_0035651 glans http://purl.obolibrary.org/obo/UBERON_0004742 dentary http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/NCBITaxon_33278 Ancylostomatidae http://purl.obolibrary.org/obo/NCBITaxon_27829 Strongyloidea http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/NCBITaxon_55271 Metastrongylidae http://purl.obolibrary.org/obo/NCBITaxon_27829 Strongyloidea http://purl.obolibrary.org/obo/UBERON_0000059 large intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000160 intestine http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/NCBITaxon_119095 Capillaria http://purl.obolibrary.org/obo/NCBITaxon_455381 Capillariidae http://purl.obolibrary.org/obo/UBERON_0000165 mouth http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/NCBITaxon_51031 Necator americanus http://purl.obolibrary.org/obo/NCBITaxon_51030 Necator http://purl.obolibrary.org/obo/UBERON_0000945 stomach http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/NCBITaxon_6248 Strongyloides stercoralis http://purl.obolibrary.org/obo/NCBITaxon_6247 Strongyloides http://purl.obolibrary.org/obo/UBERON_0001052 rectum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/NCBITaxon_1535325 Candida/Lodderomyces clade http://purl.obolibrary.org/obo/NCBITaxon_766764 Debaryomycetaceae http://purl.obolibrary.org/obo/UBERON_0001155 colon http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/NCBITaxon_3981 Hevea brasiliensis http://purl.obolibrary.org/obo/NCBITaxon_3980 Hevea http://purl.obolibrary.org/obo/UBERON_0002108 small intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/NCBITaxon_55194 Malassezia furfur http://purl.obolibrary.org/obo/NCBITaxon_55193 Malassezia http://purl.obolibrary.org/obo/UBERON_0002114 duodenum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/NCBITaxon_6247 Strongyloides http://purl.obolibrary.org/obo/NCBITaxon_6246 Strongyloididae http://purl.obolibrary.org/obo/UBERON_0002115 jejunum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/NCBITaxon_162474 Malasseziales http://purl.obolibrary.org/obo/NCBITaxon_1538075 Malasseziomycetes http://purl.obolibrary.org/obo/UBERON_0002116 ileum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0006562 pharynx http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/NCBITaxon_204428 Chlamydiota http://purl.obolibrary.org/obo/NCBITaxon_1783257 PVC group http://purl.obolibrary.org/obo/UBERON_0000168 proximal-distal subdivision of colon http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/NCBITaxon_79922 Clonorchis http://purl.obolibrary.org/obo/NCBITaxon_6196 Opisthorchiidae http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/NCBITaxon_6264 Toxocara http://purl.obolibrary.org/obo/NCBITaxon_33259 Toxocaridae http://purl.obolibrary.org/obo/NCBITaxon_53477 Bunostominae http://purl.obolibrary.org/obo/NCBITaxon_33278 Ancylostomatidae http://purl.obolibrary.org/obo/NCBITaxon_51030 Necator http://purl.obolibrary.org/obo/NCBITaxon_53477 Bunostominae http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/HP_0031481 Abnormal mitral valve physiology http://purl.obolibrary.org/obo/HP_0031650 Abnormal atrioventricular valve physiology http://purl.obolibrary.org/obo/UBERON_0002523 tunica intima http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/HP_0031650 Abnormal atrioventricular valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/UBERON_0005358 ventricle of nervous system http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/HP_0031652 Abnormal aortic valve physiology http://purl.obolibrary.org/obo/HP_0031653 Abnormal heart valve physiology http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/NCBITaxon_2497574 Monjiviricetes http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/NCBITaxon_11308 Orthomyxoviridae http://purl.obolibrary.org/obo/NCBITaxon_2499411 Articulavirales http://purl.obolibrary.org/obo/UBERON_0018260 layer of muscle tissue http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/NCBITaxon_11229 Morbillivirus http://purl.obolibrary.org/obo/NCBITaxon_2560076 Orthoparamyxovirinae http://purl.obolibrary.org/obo/UBERON_0022351 parietal serous membrane http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/NCBITaxon_260964 Henipavirus http://purl.obolibrary.org/obo/NCBITaxon_2560076 Orthoparamyxovirinae http://purl.obolibrary.org/obo/UBERON_0034933 layer of smooth muscle tissue http://purl.obolibrary.org/obo/UBERON_0018260 layer of muscle tissue http://purl.obolibrary.org/obo/NCBITaxon_3433633 Betacoronavirus cameli http://purl.obolibrary.org/obo/NCBITaxon_2509494 Merbecovirus http://purl.obolibrary.org/obo/UBERON_0006810 olecranon http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/NCBITaxon_555406 Archamoebae http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_2497570 Haploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/UBERON_0001437 epiphysis http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/UBERON_0001438 metaphysis http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/UBERON_0001300 scrotum http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0005352 spermatic cord http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/NCBITaxon_2497574 Monjiviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497570 Haploviricotina http://purl.obolibrary.org/obo/UBERON_0009853 body of uterus http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0011374 prepuce http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/NCBITaxon_2497577 Insthoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/NCBITaxon_3151693 Bunyaviricetes http://purl.obolibrary.org/obo/NCBITaxon_2497571 Polyploviricotina http://purl.obolibrary.org/obo/UBERON_0012337 cauda equina http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/NCBITaxon_2499411 Articulavirales http://purl.obolibrary.org/obo/NCBITaxon_2497577 Insthoviricetes http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/NCBITaxon_3418604 Betacoronavirus pandemicum http://purl.obolibrary.org/obo/NCBITaxon_2509511 Sarbecovirus http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/HP_0025745 Abnormal urine amino acid level http://purl.obolibrary.org/obo/HP_0033354 Abnormal urine metabolite level http://purl.obolibrary.org/obo/UBERON_0001774 skeletal muscle of trunk http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/NCBITaxon_3151693 Bunyaviricetes http://purl.obolibrary.org/obo/CHEBI_83822 non-proteinogenic L-alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_83925 non-proteinogenic alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_76224 aromatic ketone http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/UBERON_0000965 lens of camera-type eye http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0010145 paraurethral gland http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/CHEBI_102166 thiopental http://purl.obolibrary.org/obo/CHEBI_22693 barbiturates http://purl.obolibrary.org/obo/UBERON_0011826 vestibular gland http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/UBERON_0010147 male accessory sex gland http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/CHEBI_8069 phenobarbital http://purl.obolibrary.org/obo/CHEBI_22693 barbiturates http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/CHEBI_22723 benzoic acids http://purl.obolibrary.org/obo/CHEBI_33859 aromatic carboxylic acid http://purl.obolibrary.org/obo/CHEBI_51683 methoxybenzenes http://purl.obolibrary.org/obo/CHEBI_35618 aromatic ether http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/UBERON_0005744 bone foramen http://purl.obolibrary.org/obo/CHEBI_35871 oxo monocarboxylic acid http://purl.obolibrary.org/obo/CHEBI_25754 oxo carboxylic acid http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/UBERON_0005913 zone of bone organ http://purl.obolibrary.org/obo/CHEBI_79020 alpha,beta-unsaturated monocarboxylic acid http://purl.obolibrary.org/obo/CHEBI_25384 monocarboxylic acid http://purl.obolibrary.org/obo/UBERON_0001463 thumb http://purl.obolibrary.org/obo/UBERON_0019231 manual digit 1 or 5 http://purl.obolibrary.org/obo/CHEBI_9334 sulfasalazine http://purl.obolibrary.org/obo/CHEBI_22682 azobenzenes http://purl.obolibrary.org/obo/UBERON_0003631 big toe http://purl.obolibrary.org/obo/UBERON_0019241 pedal digit 1 or 5 http://purl.obolibrary.org/obo/CHEBI_37667 sesquiterpene lactone http://purl.obolibrary.org/obo/CHEBI_37668 terpene lactone http://purl.obolibrary.org/obo/UBERON_0000978 leg http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/CHEBI_36181 succinate ester http://purl.obolibrary.org/obo/CHEBI_33308 carboxylic ester http://purl.obolibrary.org/obo/UBERON_0005486 venous dural sinus http://purl.obolibrary.org/obo/UBERON_0006615 venous sinus http://purl.obolibrary.org/obo/CHEBI_25384 monocarboxylic acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/CHEBI_25754 oxo carboxylic acid http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/UBERON_0013141 capillary bed http://purl.obolibrary.org/obo/UBERON_0007502 epithelial plexus http://purl.obolibrary.org/obo/CHEBI_15705 L-alpha-amino acid http://purl.obolibrary.org/obo/CHEBI_33704 alpha-amino acid http://purl.obolibrary.org/obo/UBERON_0001810 nerve plexus http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/CHEBI_38179 monocyclic heteroarene http://purl.obolibrary.org/obo/CHEBI_33833 heteroarene http://purl.obolibrary.org/obo/UBERON_1100000 digestive tract junction http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/CHEBI_22712 benzenes http://purl.obolibrary.org/obo/CHEBI_33836 benzenoid aromatic compound http://purl.obolibrary.org/obo/UBERON_0003406 cartilage of respiratory system http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/CHEBI_26195 polyphenol http://purl.obolibrary.org/obo/CHEBI_33853 phenols http://purl.obolibrary.org/obo/UBERON_0003933 cranial cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/CHEBI_34444 4-tert-butylphenol http://purl.obolibrary.org/obo/CHEBI_33853 phenols http://purl.obolibrary.org/obo/UBERON_0011135 intervertebral cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/UBERON_0001465 knee http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/UBERON_0011136 ligament of vertebral column http://purl.obolibrary.org/obo/UBERON_0008846 skeletal ligament http://purl.obolibrary.org/obo/CHEBI_22315 alkaloid http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/UBERON_0001705 nail http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/UBERON_0000916 abdomen http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/CHEBI_83821 amino-acid derivative http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/UBERON_0002356 perineum http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/CHEBI_24436 guanidines http://purl.obolibrary.org/obo/CHEBI_35352 organonitrogen compound http://purl.obolibrary.org/obo/UBERON_0001153 caecum http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/CHEBI_87228 sulfonamide antibiotic http://purl.obolibrary.org/obo/CHEBI_35358 sulfonamide http://purl.obolibrary.org/obo/UBERON_0001160 fundus of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/CHEBI_9332 sulfamethoxazole http://purl.obolibrary.org/obo/CHEBI_87228 sulfonamide antibiotic http://purl.obolibrary.org/obo/UBERON_0001162 cardia of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/CHEBI_17087 ketone http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/UBERON_0001165 pyloric antrum http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/CHEBI_33308 carboxylic ester http://purl.obolibrary.org/obo/CHEBI_35701 ester http://purl.obolibrary.org/obo/UBERON_0001166 pylorus http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/CHEBI_33575 carboxylic acid http://purl.obolibrary.org/obo/CHEBI_35605 carbon oxoacid http://purl.obolibrary.org/obo/UBERON_0000964 cornea http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CHEBI_17478 aldehyde http://purl.obolibrary.org/obo/CHEBI_36586 carbonyl compound http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CHEBI_35873 carboxylic anhydride http://purl.obolibrary.org/obo/CHEBI_36606 acid anhydride http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CHEBI_35701 ester http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CHEBI_78616 carbohydrates and carbohydrate derivatives http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CHEBI_26596 salicylates http://purl.obolibrary.org/obo/CHEBI_36963 organooxygen compound http://purl.obolibrary.org/obo/UBERON_0003947 brain ventricle/choroid plexus http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CHEBI_29347 monocarboxylic acid amide http://purl.obolibrary.org/obo/CHEBI_37622 carboxamide http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CHEBI_38337 pyrimidone http://purl.obolibrary.org/obo/CHEBI_39447 pyrimidines http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CHEBI_38418 1,3-thiazoles http://purl.obolibrary.org/obo/CHEBI_48901 thiazoles http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/CHEBI_78840 olefinic compound http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/CHEBI_72588 semisynthetic derivative http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/UBERON_0034978 paraganglion (generic) http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/CHEBI_64709 organic acid http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/UBERON_0010011 collection of basal ganglia http://purl.obolibrary.org/obo/UBERON_0010009 aggregate regional part of brain http://purl.obolibrary.org/obo/CHEBI_36606 acid anhydride http://purl.obolibrary.org/obo/CHEBI_50860 organic molecular entity http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/UBERON_0014382 collection of hairs on head or neck http://purl.obolibrary.org/obo/CHEBI_51069 organic halide salt http://purl.obolibrary.org/obo/CHEBI_24868 organic salt http://purl.obolibrary.org/obo/UBERON_0014382 collection of hairs on head or neck http://purl.obolibrary.org/obo/UBERON_0010164 collection of hairs http://purl.obolibrary.org/obo/CHEBI_128458 disodium cromoglycate http://purl.obolibrary.org/obo/CHEBI_38700 organic sodium salt http://purl.obolibrary.org/obo/UBERON_0010167 beard http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/CHEBI_53767 chloramine T http://purl.obolibrary.org/obo/CHEBI_38700 organic sodium salt http://purl.obolibrary.org/obo/UBERON_0010163 eyebrow http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/CHEBI_24583 hexitol http://purl.obolibrary.org/obo/CHEBI_17522 alditol http://purl.obolibrary.org/obo/UBERON_3000701 intervertebral space http://purl.obolibrary.org/obo/UBERON_0010276 space in vertebral column http://purl.obolibrary.org/obo/CHEBI_47857 ureas http://purl.obolibrary.org/obo/CHEBI_33256 primary amide http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/CHEBI_48369 organic bromide salt http://purl.obolibrary.org/obo/CHEBI_51069 organic halide salt http://purl.obolibrary.org/obo/UBERON_0001708 jaw skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/CHEBI_26822 sulfide http://purl.obolibrary.org/obo/CHEBI_26835 sulfur molecular entity http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/CHEBI_33424 sulfur oxoacid derivative http://purl.obolibrary.org/obo/CHEBI_33241 oxoacid derivative http://purl.obolibrary.org/obo/UBERON_0015019 rib endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/CHEBI_25985 phenylalanine derivative http://purl.obolibrary.org/obo/CHEBI_83821 amino-acid derivative http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/CHEBI_33363 palladium http://purl.obolibrary.org/obo/CHEBI_88184 metal allergen http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/CHEBI_3614 chlorhexidine http://purl.obolibrary.org/obo/CHEBI_83403 monochlorobenzenes http://purl.obolibrary.org/obo/UBERON_0015060 sphenoid endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/CHEBI_33350 chromium group element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/CHEBI_33358 cobalt group element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/CHEBI_33362 nickel group element atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/UBERON_0006058 multi-limb segment region http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/CHEBI_33674 s-block molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/UBERON_0014795 pelvic appendage muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/CHEBI_138675 gas molecular entity http://purl.obolibrary.org/obo/CHEBI_33579 main group molecular entity http://purl.obolibrary.org/obo/UBERON_0011141 appendicular ossicle http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/CHEBI_33655 aromatic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/UBERON_0013631 sesamoid element http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/CHEBI_33597 homocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/UBERON_0002209 fibrous joint http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/CHEBI_33635 polycyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/CHEBI_33636 bicyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/UBERON_0002213 cartilaginous joint http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/CHEBI_33661 monocyclic compound http://purl.obolibrary.org/obo/CHEBI_33595 cyclic compound http://purl.obolibrary.org/obo/UBERON_0001066 intervertebral disk http://purl.obolibrary.org/obo/UBERON_0011135 intervertebral cartilage http://purl.obolibrary.org/obo/CHEBI_36688 heterotricyclic compound http://purl.obolibrary.org/obo/CHEBI_33671 heteropolycyclic compound http://purl.obolibrary.org/obo/UBERON_0000956 cerebral cortex http://purl.obolibrary.org/obo/UBERON_0016548 central nervous system gray matter layer http://purl.obolibrary.org/obo/CHEBI_37175 organic hydride http://purl.obolibrary.org/obo/CHEBI_33692 hydrides http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/CHEBI_51403 1,4-phenylenediamine http://purl.obolibrary.org/obo/CHEBI_51402 phenylenediamine http://purl.obolibrary.org/obo/UBERON_0016550 spinal cord column http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/CHEBI_53555 toluene meta-diisocyanate http://purl.obolibrary.org/obo/CHEBI_53213 diisocyanate http://purl.obolibrary.org/obo/UBERON_0000010 peripheral nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/CHEBI_53578 hexamethylene diisocyanate http://purl.obolibrary.org/obo/CHEBI_53213 diisocyanate http://purl.obolibrary.org/obo/UBERON_0002410 autonomic nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/HP_0011001 Increased bone mineral density http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density http://purl.obolibrary.org/obo/UBERON_0006558 lymphatic part of lymphoid system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/HP_0005339 Abnormality of complement system http://purl.obolibrary.org/obo/HP_0005368 Abnormality of humoral immunity http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/HP_0009815 Aplasia/hypoplasia of the extremities http://purl.obolibrary.org/obo/HP_0040064 Abnormality of limbs http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/HP_0010884 Acromelia http://purl.obolibrary.org/obo/HP_0009815 Aplasia/hypoplasia of the extremities http://purl.obolibrary.org/obo/HP_0010957 Congenital posterior urethral valve http://purl.obolibrary.org/obo/HP_0034378 Urethrovesical occlusion http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/HP_0000272 Malar flattening http://purl.obolibrary.org/obo/HP_0010668 Abnormal zygomatic bone morphology http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/HP_0004313 Decreased circulating immunoglobulin concentration http://purl.obolibrary.org/obo/HP_0010701 Abnormal circulating immunoglobulin concentration http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/HP_0011129 Bilateral fetal pyelectasis http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/HP_0012649 Increased inflammatory response http://purl.obolibrary.org/obo/HP_0012647 Abnormal inflammatory response http://purl.obolibrary.org/obo/UBERON_0001961 mucosa-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0012069 epithelium-associated lymphoid tissue http://purl.obolibrary.org/obo/HP_0100034 Motor tics http://purl.obolibrary.org/obo/HP_0100033 Tics http://purl.obolibrary.org/obo/UBERON_0015189 perineural vascular plexus http://purl.obolibrary.org/obo/UBERON_0013141 capillary bed http://purl.obolibrary.org/obo/HP_0100035 Phonic tics http://purl.obolibrary.org/obo/HP_4000074 Involuntary vocalization http://purl.obolibrary.org/obo/UBERON_0000995 uterus http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/NCBITaxon_131567 cellular organisms http://purl.obolibrary.org/obo/NCBITaxon_1 ncbitaxon http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0001051 hypopharynx http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/NCBITaxon_2787823 unclassified entries http://purl.obolibrary.org/obo/NCBITaxon_1 ncbitaxon http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/NCBITaxon_3655 Cucumis http://purl.obolibrary.org/obo/NCBITaxon_1003877 Benincaseae http://purl.obolibrary.org/obo/UBERON_0001479 sesamoid bone http://purl.obolibrary.org/obo/UBERON_0013631 sesamoid element http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/UBERON_0002279 vestibular aqueduct http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_10116 Rattus norvegicus http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/UBERON_0018321 foramen for glossopharyngeal nerve http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/NCBITaxon_39030 Apodemus agrarius http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/UBERON_0002027 stratum corneum of epidermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/NCBITaxon_10240 Poxviridae http://purl.obolibrary.org/obo/UBERON_0001154 vermiform appendix http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/NCBITaxon_10257 Parapoxvirus http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/UBERON_0000366 flexor muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/NCBITaxon_10278 Molluscipoxvirus http://purl.obolibrary.org/obo/NCBITaxon_10241 Chordopoxvirinae http://purl.obolibrary.org/obo/UBERON_0003661 limb muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/NCBITaxon_3431481 Orthopoxvirus cowpox http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/UBERON_0010890 pelvic complex muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/NCBITaxon_3431483 Orthopoxvirus monkeypox http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/NCBITaxon_3431487 Orthopoxvirus variola http://purl.obolibrary.org/obo/NCBITaxon_10242 Orthopoxvirus http://purl.obolibrary.org/obo/UBERON_0015001 radius endochondral element http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/UBERON_0015053 humerus endochondral element http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/NCBITaxon_3431390 Parapoxvirus pseudocowpox http://purl.obolibrary.org/obo/NCBITaxon_10257 Parapoxvirus http://purl.obolibrary.org/obo/UBERON_0015004 tibia endochondral element http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/NCBITaxon_3431389 Parapoxvirus orf http://purl.obolibrary.org/obo/NCBITaxon_10257 Parapoxvirus http://purl.obolibrary.org/obo/UBERON_0015052 femur endochondral element http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/NCBITaxon_3430922 Molluscipoxvirus molluscum http://purl.obolibrary.org/obo/NCBITaxon_10278 Molluscipoxvirus http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/NCBITaxon_10294 Simplexvirus http://purl.obolibrary.org/obo/NCBITaxon_10293 Alphaherpesvirinae http://purl.obolibrary.org/obo/UBERON_0015154 lateral gland of orbital region http://purl.obolibrary.org/obo/UBERON_0015152 gland of ocular region http://purl.obolibrary.org/obo/NCBITaxon_10319 Varicellovirus http://purl.obolibrary.org/obo/NCBITaxon_10293 Alphaherpesvirinae http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/NCBITaxon_3050292 Simplexvirus humanalpha1 http://purl.obolibrary.org/obo/NCBITaxon_10294 Simplexvirus http://purl.obolibrary.org/obo/UBERON_0002405 immune system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/NCBITaxon_3050293 Simplexvirus humanalpha2 http://purl.obolibrary.org/obo/NCBITaxon_10294 Simplexvirus http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/NCBITaxon_3050294 Varicellovirus humanalpha3 http://purl.obolibrary.org/obo/NCBITaxon_10319 Varicellovirus http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/NCBITaxon_10357 Betaherpesvirinae http://purl.obolibrary.org/obo/UBERON_0002257 ventral horn of spinal cord http://purl.obolibrary.org/obo/UBERON_0016550 spinal cord column http://purl.obolibrary.org/obo/UBERON_0004084 genital labium http://purl.obolibrary.org/obo/UBERON_8480029 skin of external genitalia http://purl.obolibrary.org/obo/NCBITaxon_10358 Cytomegalovirus http://purl.obolibrary.org/obo/NCBITaxon_10357 Betaherpesvirinae http://purl.obolibrary.org/obo/UBERON_0007100 primary circulatory organ http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/NCBITaxon_10375 Lymphocryptovirus http://purl.obolibrary.org/obo/NCBITaxon_10374 Gammaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_10379 Rhadinovirus http://purl.obolibrary.org/obo/NCBITaxon_10374 Gammaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3050299 Lymphocryptovirus humangamma4 http://purl.obolibrary.org/obo/NCBITaxon_10375 Lymphocryptovirus http://purl.obolibrary.org/obo/UBERON_0001872 parietal lobe http://purl.obolibrary.org/obo/UBERON_0016526 lobe of cerebral hemisphere http://purl.obolibrary.org/obo/UBERON_0016525 frontal lobe http://purl.obolibrary.org/obo/UBERON_0016526 lobe of cerebral hemisphere http://purl.obolibrary.org/obo/UBERON_0004885 hilum http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/NCBITaxon_3050300 Rhadinovirus humangamma8 http://purl.obolibrary.org/obo/NCBITaxon_10379 Rhadinovirus http://purl.obolibrary.org/obo/UBERON_0005340 dorsal telencephalic commissure http://purl.obolibrary.org/obo/UBERON_0019294 commissure of telencephalon http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/NCBITaxon_10404 Hepadnaviridae http://purl.obolibrary.org/obo/UBERON_0022276 splenic flexure of colon http://purl.obolibrary.org/obo/UBERON_0022275 colic flexure http://purl.obolibrary.org/obo/NCBITaxon_3431302 Orthohepadnavirus hominoidei http://purl.obolibrary.org/obo/NCBITaxon_10405 Orthohepadnavirus http://purl.obolibrary.org/obo/UBERON_0016548 central nervous system gray matter layer http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0001366 parietal peritoneum http://purl.obolibrary.org/obo/UBERON_0022351 parietal serous membrane http://purl.obolibrary.org/obo/NCBITaxon_10509 Mastadenovirus http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/UBERON_0004529 anatomical projection http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/NCBITaxon_3241406 Mastadenovirus blackbeardi http://purl.obolibrary.org/obo/NCBITaxon_10509 Mastadenovirus http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/NCBITaxon_7158 Aedes http://purl.obolibrary.org/obo/NCBITaxon_1056966 Aedini http://purl.obolibrary.org/obo/NCBITaxon_190765 Ochlerotatus http://purl.obolibrary.org/obo/NCBITaxon_1056966 Aedini http://purl.obolibrary.org/obo/UBERON_0001756 middle ear http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/NCBITaxon_945 Ehrlichia chaffeensis http://purl.obolibrary.org/obo/NCBITaxon_106178 canis group http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/NCBITaxon_951 Ehrlichia sennetsu http://purl.obolibrary.org/obo/NCBITaxon_106178 canis group http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/NCBITaxon_948 Anaplasma phagocytophilum http://purl.obolibrary.org/obo/NCBITaxon_106179 phagocytophilum group http://purl.obolibrary.org/obo/UBERON_0010009 aggregate regional part of brain http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/NCBITaxon_40119 Parvovirinae http://purl.obolibrary.org/obo/NCBITaxon_10780 Parvoviridae http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/NCBITaxon_10519 Human adenovirus 7 http://purl.obolibrary.org/obo/NCBITaxon_108098 Human mastadenovirus B http://purl.obolibrary.org/obo/UBERON_0010164 collection of hairs http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/NCBITaxon_45659 Human adenovirus B3 http://purl.obolibrary.org/obo/NCBITaxon_108098 Human mastadenovirus B http://purl.obolibrary.org/obo/UBERON_0000341 throat http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/NCBITaxon_3428066 Coltivirus dermacentoris http://purl.obolibrary.org/obo/NCBITaxon_10911 Coltivirus http://purl.obolibrary.org/obo/UBERON_0019243 skin crease http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/NCBITaxon_11018 Togaviridae http://purl.obolibrary.org/obo/NCBITaxon_59201 Salmonella enterica subsp. enterica http://purl.obolibrary.org/obo/NCBITaxon_28901 Salmonella enterica http://purl.obolibrary.org/obo/NCBITaxon_3426294 Alphavirus barmah http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/NCBITaxon_28901 Salmonella enterica http://purl.obolibrary.org/obo/NCBITaxon_590 Salmonella http://purl.obolibrary.org/obo/NCBITaxon_3426299 Alphavirus eastern http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/SO_0001260 sequence_collection http://purl.obolibrary.org/obo/NCBITaxon_3426314 Alphavirus rossriver http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_3426322 Alphavirus venezuelan http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_3426323 Alphavirus western http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_3426312 Alphavirus onyong http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/SYMP_0000461 abdominal symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_3426298 Alphavirus chikungunya http://purl.obolibrary.org/obo/NCBITaxon_11019 Alphavirus http://purl.obolibrary.org/obo/SYMP_0000473 nutrition, metabolism, and development symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_2846071 Rubivirus rubellae http://purl.obolibrary.org/obo/NCBITaxon_11040 Rubivirus http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_11102 Orthohepacivirus http://purl.obolibrary.org/obo/NCBITaxon_11050 Flaviviridae http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_11050 Flaviviridae http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_3052230 Orthohepacivirus hominis http://purl.obolibrary.org/obo/NCBITaxon_11102 Orthohepacivirus http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_2501931 Orthocoronavirinae http://purl.obolibrary.org/obo/NCBITaxon_11118 Coronaviridae http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/NCBITaxon_1113537 Chlamydia/Chlamydophila group http://purl.obolibrary.org/obo/NCBITaxon_6685 Penaeidae http://purl.obolibrary.org/obo/NCBITaxon_111520 Penaeoidea http://purl.obolibrary.org/obo/SYMP_0000597 head and neck symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_13373 Burkholderia mallei http://purl.obolibrary.org/obo/NCBITaxon_111527 pseudomallei group http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/NCBITaxon_11244 Pneumoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/NCBITaxon_11266 Filoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/NCBITaxon_11270 Rhabdoviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/GENO_0000938 incomplete X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/NCBITaxon_178830 Bornaviridae http://purl.obolibrary.org/obo/NCBITaxon_11157 Mononegavirales http://purl.obolibrary.org/obo/GENO_0000939 co-dominant X-linked inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/NCBITaxon_2560076 Orthoparamyxovirinae http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/GENO_0000937 complete X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000143 co-dominant autosomal inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/NCBITaxon_2560069 Avulavirinae http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/GENO_0000144 complete autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/NCBITaxon_2560080 Rubulavirinae http://purl.obolibrary.org/obo/NCBITaxon_11158 Paramyxoviridae http://purl.obolibrary.org/obo/GENO_0000145 incomplete autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000952 sex-limited autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/NCBITaxon_3052345 Morbillivirus hominis http://purl.obolibrary.org/obo/NCBITaxon_11229 Morbillivirus http://purl.obolibrary.org/obo/GENO_0000953 sex-limited autosomal recessive inheritance http://purl.obolibrary.org/obo/GENO_0000148 autosomal recessive inheritance http://purl.obolibrary.org/obo/SO_0001745 maternal_uniparental_disomy http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/NCBITaxon_1868215 Orthopneumovirus http://purl.obolibrary.org/obo/NCBITaxon_11244 Pneumoviridae http://purl.obolibrary.org/obo/SO_0001746 paternal_uniparental_disomy http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/NCBITaxon_3044781 Orthoebolavirus http://purl.obolibrary.org/obo/NCBITaxon_11266 Filoviridae http://purl.obolibrary.org/obo/SO_0000199 translocation http://purl.obolibrary.org/obo/SO_0001785 structural_alteration http://purl.obolibrary.org/obo/NCBITaxon_3044783 Orthomarburgvirus http://purl.obolibrary.org/obo/NCBITaxon_11266 Filoviridae http://purl.obolibrary.org/obo/HP_0012758 Neurodevelopmental delay http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/NCBITaxon_2842407 Alpharhabdovirinae http://purl.obolibrary.org/obo/NCBITaxon_11270 Rhabdoviridae http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/NCBITaxon_11292 Lyssavirus rabies http://purl.obolibrary.org/obo/NCBITaxon_11286 Lyssavirus http://purl.obolibrary.org/obo/HP_0025033 Abnormal digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/NCBITaxon_34104 Streptobacillus http://purl.obolibrary.org/obo/NCBITaxon_1129771 Leptotrichiaceae http://purl.obolibrary.org/obo/HP_0000975 Hyperhidrosis http://purl.obolibrary.org/obo/HP_0025276 Abnormality of skin adnexa physiology http://purl.obolibrary.org/obo/NCBITaxon_35788 Rickettsia africae http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0010468 Aplasia/Hypoplasia of the testes http://purl.obolibrary.org/obo/HP_0045058 Abnormality of the testis size http://purl.obolibrary.org/obo/NCBITaxon_35789 Rickettsia helvetica http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/HP_0032120 Abnormal peripheral nervous system physiology http://purl.obolibrary.org/obo/HP_0410008 Abnormality of the peripheral nervous system http://purl.obolibrary.org/obo/NCBITaxon_35790 Rickettsia japonica http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SO_0000055 hyperploid http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/NCBITaxon_35792 Rickettsia parkeri http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/NCBITaxon_37816 Rickettsia honei http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/NCBITaxon_42862 Rickettsia felis http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/NCBITaxon_781 Rickettsia conorii http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SO_0002219 functionally_normal http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/NCBITaxon_783 Rickettsia rickettsii http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SO_0002220 function_uncertain_variant http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/NCBITaxon_786 Rickettsia akari http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/NCBITaxon_787 Rickettsia australis http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SO_0002318 altered_gene_product_sequence http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/NCBITaxon_266068 Rickettsia sibirica subgroup http://purl.obolibrary.org/obo/NCBITaxon_114277 spotted fever group http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/NCBITaxon_782 Rickettsia prowazekii http://purl.obolibrary.org/obo/NCBITaxon_114292 typhus group http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/NCBITaxon_785 Rickettsia typhi http://purl.obolibrary.org/obo/NCBITaxon_114292 typhus group http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/NCBITaxon_3052409 Orthobunyavirus lacrosseense http://purl.obolibrary.org/obo/NCBITaxon_11572 Orthobunyavirus http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/NCBITaxon_3052429 Orthobunyavirus oropoucheense http://purl.obolibrary.org/obo/NCBITaxon_11572 Orthobunyavirus http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/NCBITaxon_3052676 Phlebovirus riftense http://purl.obolibrary.org/obo/NCBITaxon_11584 Phlebovirus http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/NCBITaxon_11617 Arenaviridae http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/NCBITaxon_3418650 Lentivirus humimdef1 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/NCBITaxon_3418651 Lentivirus humimdef2 http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/SO_0001549 transcription_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/NCBITaxon_116706 Heterotremata http://purl.obolibrary.org/obo/NCBITaxon_116704 Eubrachyura http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/NCBITaxon_6774 Portunoidea http://purl.obolibrary.org/obo/NCBITaxon_116706 Heterotremata http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/NCBITaxon_117571 Euteleostomi http://purl.obolibrary.org/obo/SO_0001602 complex_change_of_translational_product_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/NCBITaxon_2826938 Brucella/Ochrobactrum group http://purl.obolibrary.org/obo/NCBITaxon_118882 Brucellaceae http://purl.obolibrary.org/obo/SO_0001541 decreased_transcript_level_variant http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_776 Coxiella http://purl.obolibrary.org/obo/NCBITaxon_118968 Coxiellaceae http://purl.obolibrary.org/obo/SO_0001542 increased_transcript_level_variant http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_118968 Coxiellaceae http://purl.obolibrary.org/obo/NCBITaxon_118969 Legionellales http://purl.obolibrary.org/obo/SO_0001544 editing_variant http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/NCBITaxon_444 Legionellaceae http://purl.obolibrary.org/obo/NCBITaxon_118969 Legionellales http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/NCBITaxon_32008 Burkholderia http://purl.obolibrary.org/obo/NCBITaxon_119060 Burkholderiaceae http://purl.obolibrary.org/obo/SO_0001802 increased_polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001803 decreased_polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/NCBITaxon_1457286 Dorylaimia http://purl.obolibrary.org/obo/NCBITaxon_119088 Enoplea http://purl.obolibrary.org/obo/SO_0001547 decreased_transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/NCBITaxon_6236 Rhabditida http://purl.obolibrary.org/obo/NCBITaxon_119089 Chromadorea http://purl.obolibrary.org/obo/SO_0001548 increased_transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/NCBITaxon_36086 Trichuris http://purl.obolibrary.org/obo/NCBITaxon_119093 Trichuridae http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/SO_0001549 transcription_variant http://purl.obolibrary.org/obo/NCBITaxon_7162 Ochlerotatus triseriatus http://purl.obolibrary.org/obo/NCBITaxon_119225 Protomacleaya http://purl.obolibrary.org/obo/SO_0001551 increased_transcription_rate_variant http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/NCBITaxon_90010 unclassified Enterovirus http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/SO_0001552 decreased_transcription_rate_variant http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/NCBITaxon_3428500 Enterovirus alphacoxsackie http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/SO_0001555 decreased_translational_product_level http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/NCBITaxon_3428502 Enterovirus betacoxsackie http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/SO_0001556 increased_translational_product_level http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/NCBITaxon_3428505 Enterovirus coxsackiepol http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/SO_0001557 polypeptide_gain_of_function_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/NCBITaxon_3428506 Enterovirus deconjuncti http://purl.obolibrary.org/obo/NCBITaxon_12059 Enterovirus http://purl.obolibrary.org/obo/SO_0001558 polypeptide_localization_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/NCBITaxon_88770 Panarthropoda http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/SO_0001562 polypeptide_post_translational_processing_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/SO_0001560 inactive_ligand_binding_site http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/NCBITaxon_6447 Mollusca http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/SO_0001561 polypeptide_partial_loss_of_function http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/NCBITaxon_2750822 unclassified Mycobacterium avium complex (MAC) http://purl.obolibrary.org/obo/NCBITaxon_120793 Mycobacterium avium complex (MAC) http://purl.obolibrary.org/obo/SO_0001618 inactive_catalytic_site http://purl.obolibrary.org/obo/SO_0001560 inactive_ligand_binding_site http://purl.obolibrary.org/obo/NCBITaxon_3429217 Hepatovirus fejalco http://purl.obolibrary.org/obo/NCBITaxon_12091 Hepatovirus http://purl.obolibrary.org/obo/SO_0001911 copy_number_increase http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/NCBITaxon_121222 Pediculus http://purl.obolibrary.org/obo/NCBITaxon_121221 Pediculidae http://purl.obolibrary.org/obo/SO_0001912 copy_number_decrease http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/NCBITaxon_121225 Pediculus humanus http://purl.obolibrary.org/obo/NCBITaxon_121222 Pediculus http://purl.obolibrary.org/obo/NCBITaxon_121752 Lacazia loboi http://purl.obolibrary.org/obo/NCBITaxon_121739 Lacazia http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/SO_0001598 translational_product_structure_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/SO_0002152 genic_downstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/NCBITaxon_28211 Alphaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/SO_0002153 genic_upstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/NCBITaxon_28216 Betaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/SO_0002085 unidirectional_gene_fusion http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/NCBITaxon_123366 Eurypterygia http://purl.obolibrary.org/obo/NCBITaxon_123365 Neoteleostei http://purl.obolibrary.org/obo/SO_0002086 bidirectional_gene_fusion http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/NCBITaxon_123367 Ctenosquamata http://purl.obolibrary.org/obo/NCBITaxon_123366 Eurypterygia http://purl.obolibrary.org/obo/NCBITaxon_123368 Acanthomorphata http://purl.obolibrary.org/obo/NCBITaxon_123367 Ctenosquamata http://purl.obolibrary.org/obo/SO_0001782 TF_binding_site_variant http://purl.obolibrary.org/obo/SO_0001566 regulatory_region_variant http://purl.obolibrary.org/obo/NCBITaxon_1489838 Paracanthopterygii http://purl.obolibrary.org/obo/NCBITaxon_123368 Acanthomorphata http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/NCBITaxon_118969 Legionellales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/SO_0001572 exon_loss_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/NCBITaxon_135625 Pasteurellales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/SO_0001573 intron_gain_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/NCBITaxon_72273 Thiotrichales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/NCBITaxon_91347 Enterobacterales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/NCBITaxon_135623 Vibrionales http://purl.obolibrary.org/obo/NCBITaxon_1236 Gammaproteobacteria http://purl.obolibrary.org/obo/SO_0001995 extended_intronic_splice_region_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/NCBITaxon_186801 Clostridia http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/SO_0002169 splice_polypyrimidine_tract_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/NCBITaxon_526524 Erysipelotrichia http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/SO_0001570 cryptic_splice_acceptor http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/NCBITaxon_91061 Bacilli http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/NCBITaxon_7205 Tabanidae http://purl.obolibrary.org/obo/NCBITaxon_1262365 Tabanoidea http://purl.obolibrary.org/obo/SO_0001571 cryptic_splice_donor http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/NCBITaxon_1280 Staphylococcus aureus http://purl.obolibrary.org/obo/NCBITaxon_1279 Staphylococcus http://purl.obolibrary.org/obo/SO_0002327 splice_acceptor_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/NCBITaxon_5796 Coccidia http://purl.obolibrary.org/obo/NCBITaxon_1280412 Conoidasida http://purl.obolibrary.org/obo/SO_0002328 splice_acceptor_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/NCBITaxon_1647 Erysipelothrix http://purl.obolibrary.org/obo/NCBITaxon_128827 Erysipelotrichaceae http://purl.obolibrary.org/obo/SO_0002325 splice_donor_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/NCBITaxon_7511 Pulicidae http://purl.obolibrary.org/obo/NCBITaxon_129369 Pulicoidea http://purl.obolibrary.org/obo/SO_0002326 splice_donor_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/NCBITaxon_1301 Streptococcus http://purl.obolibrary.org/obo/NCBITaxon_1300 Streptococcaceae http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_1314 Streptococcus pyogenes http://purl.obolibrary.org/obo/NCBITaxon_1301 Streptococcus http://purl.obolibrary.org/obo/SO_0001577 complex_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_1313 Streptococcus pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_1301 Streptococcus http://purl.obolibrary.org/obo/SO_0001596 transcript_secondary_structure_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/SO_0001619 non_coding_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_2 Bacteria http://purl.obolibrary.org/obo/NCBITaxon_131567 cellular organisms http://purl.obolibrary.org/obo/SO_0001621 NMD_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/NCBITaxon_131567 cellular organisms http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_44556 Phlebotomus http://purl.obolibrary.org/obo/NCBITaxon_13203 Phlebotomus http://purl.obolibrary.org/obo/SO_0001791 exon_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_63673 Turbo cornutus http://purl.obolibrary.org/obo/NCBITaxon_133423 Batillus http://purl.obolibrary.org/obo/SO_0002011 intragenic_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_29960 Penaeus indicus http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/NCBITaxon_6687 Penaeus monodon http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_6689 Penaeus vannamei http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/SO_0001582 initiator_codon_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/NCBITaxon_6690 Penaeus aztecus http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/SO_0001590 terminator_codon_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/NCBITaxon_147571 Piedraiaceae http://purl.obolibrary.org/obo/NCBITaxon_134362 Capnodiales http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/NCBITaxon_135625 Pasteurellales http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/NCBITaxon_1643685 Borreliaceae http://purl.obolibrary.org/obo/NCBITaxon_136 Spirochaetales http://purl.obolibrary.org/obo/SO_0002012 start_lost http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/NCBITaxon_2845253 Treponemataceae http://purl.obolibrary.org/obo/NCBITaxon_136 Spirochaetales http://purl.obolibrary.org/obo/SO_0002019 start_retained_variant http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/NCBITaxon_186817 Bacillaceae http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/SO_0001585 conservative_missense_variant http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/NCBITaxon_186820 Listeriaceae http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/SO_0001586 non_conservative_missense_variant http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/NCBITaxon_90964 Staphylococcaceae http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/SO_0001586 non_conservative_missense_variant http://purl.obolibrary.org/obo/NCBITaxon_86661 Bacillus cereus group http://purl.obolibrary.org/obo/NCBITaxon_1386 Bacillus http://purl.obolibrary.org/obo/NCBITaxon_31704 Coxsackievirus A16 http://purl.obolibrary.org/obo/NCBITaxon_138948 Enterovirus A http://purl.obolibrary.org/obo/SO_0002321 stop_gained_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/NCBITaxon_39054 Enterovirus A71 http://purl.obolibrary.org/obo/NCBITaxon_138948 Enterovirus A http://purl.obolibrary.org/obo/SO_0002322 stop_gained_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/NCBITaxon_12080 Poliovirus 1 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/SO_0001591 frame_restoring_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/NCBITaxon_12083 Poliovirus 2 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/SO_0001592 minus_1_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/NCBITaxon_12086 Poliovirus 3 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/SO_0001593 minus_2_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/NCBITaxon_12089 Coxsackievirus A24 http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/SO_0001594 plus_1_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/NCBITaxon_12090 enterovirus D70 http://purl.obolibrary.org/obo/NCBITaxon_138951 Enterovirus D http://purl.obolibrary.org/obo/SO_0001595 plus_2_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/NCBITaxon_129369 Pulicoidea http://purl.obolibrary.org/obo/NCBITaxon_140693 Pulicomorpha http://purl.obolibrary.org/obo/SO_0001909 frameshift_elongation http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/NCBITaxon_314145 Laurasiatheria http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/SO_0001910 frameshift_truncation http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/SO_0002323 frameshift_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/NCBITaxon_4447 Liliopsida http://purl.obolibrary.org/obo/NCBITaxon_1437183 Mesangiospermae http://purl.obolibrary.org/obo/SO_0002324 frameshift_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/NCBITaxon_71240 eudicotyledons http://purl.obolibrary.org/obo/NCBITaxon_1437183 Mesangiospermae http://purl.obolibrary.org/obo/SO_0001567 stop_retained_variant http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/NCBITaxon_4734 commelinids http://purl.obolibrary.org/obo/NCBITaxon_1437197 Petrosaviidae http://purl.obolibrary.org/obo/SO_0001578 stop_lost http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/NCBITaxon_71274 asterids http://purl.obolibrary.org/obo/NCBITaxon_1437201 Pentapetalae http://purl.obolibrary.org/obo/SO_0001626 incomplete_terminal_codon_variant http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/NCBITaxon_71275 rosids http://purl.obolibrary.org/obo/NCBITaxon_1437201 Pentapetalae http://purl.obolibrary.org/obo/SO_0001597 compensatory_transcript_secondary_structure_variant http://purl.obolibrary.org/obo/SO_0001596 transcript_secondary_structure_variant http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/NCBITaxon_1457286 Dorylaimia http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/SO_0001598 translational_product_structure_variant http://purl.obolibrary.org/obo/NCBITaxon_1648037 Poodae http://purl.obolibrary.org/obo/NCBITaxon_147368 Pooideae http://purl.obolibrary.org/obo/SO_0001600 complex_3D_structural_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/NCBITaxon_1652081 Poeae Chloroplast Group 2 (Poeae type) http://purl.obolibrary.org/obo/NCBITaxon_147387 Poeae http://purl.obolibrary.org/obo/NCBITaxon_3239874 Pichiomycetes http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/SO_0001601 conformational_change_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/NCBITaxon_147538 Pezizomycotina http://purl.obolibrary.org/obo/SO_0002093 structural_interaction_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147541 Dothideomycetes http://purl.obolibrary.org/obo/SO_0001604 amino_acid_deletion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/NCBITaxon_451868 Pleosporomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147541 Dothideomycetes http://purl.obolibrary.org/obo/SO_0001605 amino_acid_insertion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/NCBITaxon_451870 Chaetothyriomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147545 Eurotiomycetes http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/NCBITaxon_451871 Eurotiomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147545 Eurotiomycetes http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/NCBITaxon_222543 Hypocreomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147550 Sordariomycetes http://purl.obolibrary.org/obo/SO_0001616 polypeptide_fusion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/NCBITaxon_222544 Sordariomycetidae http://purl.obolibrary.org/obo/NCBITaxon_147550 Sordariomycetes http://purl.obolibrary.org/obo/SO_0001617 polypeptide_truncation http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/NCBITaxon_37987 Pneumocystales http://purl.obolibrary.org/obo/NCBITaxon_147553 Pneumocystomycetes http://purl.obolibrary.org/obo/SO_0001607 conservative_amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/NCBITaxon_1513 Clostridium tetani http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/SO_0001608 non_conservative_amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/NCBITaxon_3691983 Clostridium botulinum group http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/NCBITaxon_186625 Clupeocephala http://purl.obolibrary.org/obo/NCBITaxon_1489341 Osteoglossocephalai http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/NCBITaxon_123365 Neoteleostei http://purl.obolibrary.org/obo/NCBITaxon_1489388 Euteleosteomorpha http://purl.obolibrary.org/obo/SO_0001612 elongated_in_frame_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/NCBITaxon_41705 Protacanthopterygii http://purl.obolibrary.org/obo/NCBITaxon_1489388 Euteleosteomorpha http://purl.obolibrary.org/obo/SO_0001613 elongated_out_of_frame_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/NCBITaxon_1489841 Zeiogadaria http://purl.obolibrary.org/obo/NCBITaxon_1489838 Paracanthopterygii http://purl.obolibrary.org/obo/SO_0001614 elongated_in_frame_polypeptide_N_terminal_elongation http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/NCBITaxon_1489843 Gadariae http://purl.obolibrary.org/obo/NCBITaxon_1489841 Zeiogadaria http://purl.obolibrary.org/obo/SO_0001615 elongated_out_of_frame_polypeptide_N_terminal http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/NCBITaxon_8043 Gadiformes http://purl.obolibrary.org/obo/NCBITaxon_1489843 Gadariae http://purl.obolibrary.org/obo/SO_0001620 mature_miRNA_variant http://purl.obolibrary.org/obo/SO_0001619 non_coding_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_8045 Gadidae http://purl.obolibrary.org/obo/NCBITaxon_1489845 Gadoidei http://purl.obolibrary.org/obo/SO_0001792 non_coding_transcript_exon_variant http://purl.obolibrary.org/obo/SO_0001791 exon_variant http://purl.obolibrary.org/obo/NCBITaxon_36826 Clostridium botulinum A http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/SO_0001970 non_coding_transcript_intron_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/NCBITaxon_36827 Clostridium botulinum B http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/SO_0002088 non_coding_transcript_splice_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/NCBITaxon_36830 Clostridium botulinum E http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/NCBITaxon_36831 Clostridium botulinum F http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/NCBITaxon_333774 unclassified Papillomaviridae http://purl.obolibrary.org/obo/NCBITaxon_151340 Papillomaviridae http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/NCBITaxon_2169595 Firstpapillomavirinae http://purl.obolibrary.org/obo/NCBITaxon_151340 Papillomaviridae http://purl.obolibrary.org/obo/SO_0002013 5_prime_UTR_truncation http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/NCBITaxon_693762 Schizaeales http://purl.obolibrary.org/obo/NCBITaxon_1521262 Polypodiidae http://purl.obolibrary.org/obo/SO_0002014 5_prime_UTR_elongation http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/NCBITaxon_3428212 Deltaretrovirus priTlym1 http://purl.obolibrary.org/obo/NCBITaxon_153136 Deltaretrovirus http://purl.obolibrary.org/obo/SO_0002091 5_prime_UTR_intron_variant http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/NCBITaxon_8976 Galliformes http://purl.obolibrary.org/obo/NCBITaxon_1549675 Galloanserae http://purl.obolibrary.org/obo/SO_0002092 5_prime_UTR_exon_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/NCBITaxon_1851469 Trichosporonales http://purl.obolibrary.org/obo/NCBITaxon_155616 Tremellomycetes http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/NCBITaxon_5579 Aureobasidium http://purl.obolibrary.org/obo/NCBITaxon_1570301 Saccotheciaceae http://purl.obolibrary.org/obo/SO_0002015 3_prime_UTR_truncation http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/NCBITaxon_157541 Zygodontomys brevicauda http://purl.obolibrary.org/obo/NCBITaxon_157540 Zygodontomys http://purl.obolibrary.org/obo/SO_0002016 3_prime_UTR_elongation http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/NCBITaxon_15957 Phleum pratense http://purl.obolibrary.org/obo/NCBITaxon_15956 Phleum http://purl.obolibrary.org/obo/SO_0002089 3_prime_UTR_exon_variant http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/NCBITaxon_163159 Xenopsylla cheopis http://purl.obolibrary.org/obo/NCBITaxon_163158 Xenopsylla http://purl.obolibrary.org/obo/SO_0002090 3_prime_UTR_intron_variant http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/NCBITaxon_5820 Plasmodium http://purl.obolibrary.org/obo/NCBITaxon_1639119 Plasmodiidae http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_138 Borrelia http://purl.obolibrary.org/obo/NCBITaxon_1643685 Borreliaceae http://purl.obolibrary.org/obo/SO_0002018 conserved_intron_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/NCBITaxon_64895 Borreliella http://purl.obolibrary.org/obo/NCBITaxon_1643685 Borreliaceae http://purl.obolibrary.org/obo/SO_0001574 splice_acceptor_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/NCBITaxon_170 Leptospiraceae http://purl.obolibrary.org/obo/NCBITaxon_1643688 Leptospirales http://purl.obolibrary.org/obo/SO_0001575 splice_donor_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/NCBITaxon_1648 Erysipelothrix rhusiopathiae http://purl.obolibrary.org/obo/NCBITaxon_1647 Erysipelothrix http://purl.obolibrary.org/obo/SO_0001787 splice_donor_5th_base_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/NCBITaxon_147387 Poeae http://purl.obolibrary.org/obo/NCBITaxon_1648037 Poodae http://purl.obolibrary.org/obo/SO_0002084 exonic_splice_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/NCBITaxon_3052303 Mammarenavirus choriomeningitidis http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SO_0002170 splice_donor_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/NCBITaxon_3052310 Mammarenavirus lassaense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SO_0001635 5KB_upstream_variant http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/NCBITaxon_2169991 Mammarenavirus juninense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SO_0001636 2KB_upstream_variant http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/NCBITaxon_3052302 Mammarenavirus chapareense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SO_0001633 5KB_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/NCBITaxon_3052307 Mammarenavirus guanaritoense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SO_0001634 500B_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/NCBITaxon_3052314 Mammarenavirus lujoense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SO_0002083 2KB_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/NCBITaxon_3052317 Mammarenavirus machupoense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SO_0001820 inframe_indel http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/NCBITaxon_3052331 Mammarenavirus whitewaterense http://purl.obolibrary.org/obo/NCBITaxon_1653394 Mammarenavirus http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/NCBITaxon_169449 Coelopinae http://purl.obolibrary.org/obo/NCBITaxon_169440 Coelopidae http://purl.obolibrary.org/obo/SO_0001775 maternal_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/NCBITaxon_169455 Coelopellini http://purl.obolibrary.org/obo/NCBITaxon_169449 Coelopinae http://purl.obolibrary.org/obo/NCBITaxon_169495 This http://purl.obolibrary.org/obo/NCBITaxon_169455 Coelopellini http://purl.obolibrary.org/obo/SO_0001776 paternal_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/SO_0001777 somatic_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/NCBITaxon_721805 Amygdaleae http://purl.obolibrary.org/obo/NCBITaxon_171637 Amygdaloideae http://purl.obolibrary.org/obo/SO_0001778 germline_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/NCBITaxon_721813 Maleae http://purl.obolibrary.org/obo/NCBITaxon_171637 Amygdaloideae http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_2706 Citrus http://purl.obolibrary.org/obo/NCBITaxon_1728959 Aurantioideae http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_2037 Actinomycetales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/NCBITaxon_85009 Propionibacteriales http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/NCBITaxon_1769 Mycobacterium leprae http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/SO_0001823 conservative_inframe_insertion http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/NCBITaxon_120793 Mycobacterium avium complex (MAC) http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/SO_0001824 disruptive_inframe_insertion http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/NCBITaxon_77643 Mycobacterium tuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_1763 Mycobacterium http://purl.obolibrary.org/obo/SO_0001825 conservative_inframe_deletion http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/NCBITaxon_186458 Orthobornavirus http://purl.obolibrary.org/obo/NCBITaxon_178830 Bornaviridae http://purl.obolibrary.org/obo/SO_0001826 disruptive_inframe_deletion http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/NCBITaxon_1714619 Orthobornavirus bornaense http://purl.obolibrary.org/obo/NCBITaxon_186458 Orthobornavirus http://purl.obolibrary.org/obo/SO_0001017 silent_mutation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/NCBITaxon_1489388 Euteleosteomorpha http://purl.obolibrary.org/obo/NCBITaxon_186625 Clupeocephala http://purl.obolibrary.org/obo/SO_0001566 regulatory_region_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/NCBITaxon_186634 Otomorpha http://purl.obolibrary.org/obo/NCBITaxon_186625 Clupeocephala http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/NCBITaxon_186627 Cypriniphysae http://purl.obolibrary.org/obo/NCBITaxon_186626 Otophysi http://purl.obolibrary.org/obo/SO_0001907 feature_elongation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/NCBITaxon_7952 Cypriniformes http://purl.obolibrary.org/obo/NCBITaxon_186627 Cypriniphysae http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/NCBITaxon_32519 Ostariophysi http://purl.obolibrary.org/obo/NCBITaxon_186634 Otomorpha http://purl.obolibrary.org/obo/SO_0001893 transcript_ablation http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/NCBITaxon_186802 Eubacteriales http://purl.obolibrary.org/obo/NCBITaxon_186801 Clostridia http://purl.obolibrary.org/obo/SO_0001894 regulatory_region_ablation http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/NCBITaxon_31979 Clostridiaceae http://purl.obolibrary.org/obo/NCBITaxon_186802 Eubacteriales http://purl.obolibrary.org/obo/SO_0001889 transcript_amplification http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/NCBITaxon_1386 Bacillus http://purl.obolibrary.org/obo/NCBITaxon_186817 Bacillaceae http://purl.obolibrary.org/obo/SO_0001891 regulatory_region_amplification http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/NCBITaxon_1637 Listeria http://purl.obolibrary.org/obo/NCBITaxon_186820 Listeriaceae http://purl.obolibrary.org/obo/SO_0001883 transcript_translocation http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/NCBITaxon_1300 Streptococcaceae http://purl.obolibrary.org/obo/NCBITaxon_186826 Lactobacillales http://purl.obolibrary.org/obo/SO_0001884 regulatory_region_translocation http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/NCBITaxon_119225 Protomacleaya http://purl.obolibrary.org/obo/NCBITaxon_190765 Ochlerotatus http://purl.obolibrary.org/obo/SO_0001886 transcript_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/NCBITaxon_197 Campylobacter jejuni http://purl.obolibrary.org/obo/NCBITaxon_194 Campylobacter http://purl.obolibrary.org/obo/SO_0001887 regulatory_region_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/NCBITaxon_11908 Human T-cell leukemia virus type I http://purl.obolibrary.org/obo/NCBITaxon_194440 Primate T-lymphotropic virus 1 http://purl.obolibrary.org/obo/SO_0001890 transcript_regulatory_region_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/NCBITaxon_3701028 Altocrustacea http://purl.obolibrary.org/obo/NCBITaxon_197562 Pancrustacea http://purl.obolibrary.org/obo/SO_0001885 TFBS_translocation http://purl.obolibrary.org/obo/SO_0001884 regulatory_region_translocation http://purl.obolibrary.org/obo/NCBITaxon_197562 Pancrustacea http://purl.obolibrary.org/obo/NCBITaxon_197563 Mandibulata http://purl.obolibrary.org/obo/SO_0001888 TFBS_fusion http://purl.obolibrary.org/obo/SO_0001887 regulatory_region_fusion http://purl.obolibrary.org/obo/NCBITaxon_1760 Actinomycetes http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinomycetota http://purl.obolibrary.org/obo/SO_0001892 TFBS_amplification http://purl.obolibrary.org/obo/SO_0001891 regulatory_region_amplification http://purl.obolibrary.org/obo/NCBITaxon_69034 Rotaliidae http://purl.obolibrary.org/obo/NCBITaxon_203397 Rotaliacea http://purl.obolibrary.org/obo/SO_0001895 TFBS_ablation http://purl.obolibrary.org/obo/SO_0001894 regulatory_region_ablation http://purl.obolibrary.org/obo/NCBITaxon_203491 Fusobacteriales http://purl.obolibrary.org/obo/NCBITaxon_203490 Fusobacteriia http://purl.obolibrary.org/obo/SO_0001587 stop_gained http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/NCBITaxon_1129771 Leptotrichiaceae http://purl.obolibrary.org/obo/NCBITaxon_203491 Fusobacteriales http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/SO_0001907 feature_elongation http://purl.obolibrary.org/obo/NCBITaxon_203692 Spirochaetia http://purl.obolibrary.org/obo/NCBITaxon_203691 Spirochaetota http://purl.obolibrary.org/obo/SO_0001988 5_prime_UTR_premature_start_codon_gain_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/NCBITaxon_3118682 Leptospiria http://purl.obolibrary.org/obo/NCBITaxon_203691 Spirochaetota http://purl.obolibrary.org/obo/SO_0001989 5_prime_UTR_premature_start_codon_loss_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/NCBITaxon_136 Spirochaetales http://purl.obolibrary.org/obo/NCBITaxon_203692 Spirochaetia http://purl.obolibrary.org/obo/SO_0001990 five_prime_UTR_premature_start_codon_location_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/NCBITaxon_2049 Actinomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_2037 Actinomycetales http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/SO_0002009 selenocysteine_loss http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/NCBITaxon_204429 Chlamydiia http://purl.obolibrary.org/obo/NCBITaxon_204428 Chlamydiota http://purl.obolibrary.org/obo/SO_0002010 pyrrolysine_loss http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/NCBITaxon_51291 Chlamydiales http://purl.obolibrary.org/obo/NCBITaxon_204429 Chlamydiia http://purl.obolibrary.org/obo/SO_0002317 absent_gene_product http://purl.obolibrary.org/obo/SO_0002316 decreased_gene_product_level http://purl.obolibrary.org/obo/NCBITaxon_1654 Actinomyces http://purl.obolibrary.org/obo/NCBITaxon_2049 Actinomycetaceae http://purl.obolibrary.org/obo/SO_0002076 incomplete_transcript_3UTR_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_2529408 Schaalia http://purl.obolibrary.org/obo/NCBITaxon_2049 Actinomycetaceae http://purl.obolibrary.org/obo/SO_0002077 incomplete_transcript_5UTR_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_481 Neisseriaceae http://purl.obolibrary.org/obo/NCBITaxon_206351 Neisseriales http://purl.obolibrary.org/obo/SO_0002078 incomplete_transcript_intronic_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_72294 Campylobacteraceae http://purl.obolibrary.org/obo/NCBITaxon_213849 Campylobacterales http://purl.obolibrary.org/obo/SO_0002079 incomplete_transcript_splice_region_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_63671 Turbinidae http://purl.obolibrary.org/obo/NCBITaxon_216285 Trochoidea http://purl.obolibrary.org/obo/SO_0002080 incomplete_transcript_exonic_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_5592 Microascales http://purl.obolibrary.org/obo/NCBITaxon_222543 Hypocreomycetidae http://purl.obolibrary.org/obo/NCBITaxon_5151 Ophiostomatales http://purl.obolibrary.org/obo/NCBITaxon_222544 Sordariomycetidae http://purl.obolibrary.org/obo/SO_0002081 incomplete_transcript_CDS http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/NCBITaxon_234 Brucella http://purl.obolibrary.org/obo/SO_0002082 incomplete_transcript_coding_splice_variant http://purl.obolibrary.org/obo/SO_0002079 incomplete_transcript_splice_region_variant http://purl.obolibrary.org/obo/NCBITaxon_1728959 Aurantioideae http://purl.obolibrary.org/obo/NCBITaxon_23513 Rutaceae http://purl.obolibrary.org/obo/SO_1000029 chromosomal_deletion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/NCBITaxon_1521262 Polypodiidae http://purl.obolibrary.org/obo/NCBITaxon_241806 Polypodiopsida http://purl.obolibrary.org/obo/SO_1000030 chromosomal_inversion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/NCBITaxon_35793 Rickettsia sibirica http://purl.obolibrary.org/obo/NCBITaxon_266068 Rickettsia sibirica subgroup http://purl.obolibrary.org/obo/SO_1000045 ring_chromosome http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/NCBITaxon_2711 Citrus sinensis http://purl.obolibrary.org/obo/NCBITaxon_2706 Citrus http://purl.obolibrary.org/obo/SO_0002060 interchromosomal_translocation http://purl.obolibrary.org/obo/SO_1000044 chromosomal_translocation http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/SO_1000037 chromosomal_duplication http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/SO_1000044 chromosomal_translocation http://purl.obolibrary.org/obo/SO_0000199 translocation http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_2759 Eukaryota http://purl.obolibrary.org/obo/SYMP_0000195 abnormal hemiwalking hemistanding http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/NCBITaxon_9903 Bos http://purl.obolibrary.org/obo/NCBITaxon_27592 Bovinae http://purl.obolibrary.org/obo/SYMP_0000670 abnormal hemiwalking http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/NCBITaxon_299467 Leptotrombidium deliense http://purl.obolibrary.org/obo/NCBITaxon_279271 Leptotrombidium http://purl.obolibrary.org/obo/SYMP_0000190 wheelbarrowing http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/NCBITaxon_356 Hyphomicrobiales http://purl.obolibrary.org/obo/NCBITaxon_28211 Alphaproteobacteria http://purl.obolibrary.org/obo/SYMP_0000669 abnormal hemistanding http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/NCBITaxon_766 Rickettsiales http://purl.obolibrary.org/obo/NCBITaxon_28211 Alphaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_73230 [Emmonsia] crescens http://purl.obolibrary.org/obo/NCBITaxon_1955773 Emergomyces http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_206351 Neisseriales http://purl.obolibrary.org/obo/NCBITaxon_28216 Betaproteobacteria http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/NCBITaxon_80840 Burkholderiales http://purl.obolibrary.org/obo/NCBITaxon_28216 Betaproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_6246 Strongyloididae http://purl.obolibrary.org/obo/NCBITaxon_2082224 Strongyloidoidea http://purl.obolibrary.org/obo/NCBITaxon_5598 Alternaria http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/NCBITaxon_60516 Dibothriocephalus latus http://purl.obolibrary.org/obo/NCBITaxon_2267273 Dibothriocephalus http://purl.obolibrary.org/obo/NCBITaxon_91493 Exserohilum http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/CHEBI_53662 biguanides http://purl.obolibrary.org/obo/CHEBI_24436 guanidines http://purl.obolibrary.org/obo/NCBITaxon_5502 Curvularia http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/CHEBI_55373 isoxazoles http://purl.obolibrary.org/obo/CHEBI_35790 oxazole http://purl.obolibrary.org/obo/NCBITaxon_5094 Talaromyces http://purl.obolibrary.org/obo/NCBITaxon_28568 Trichocomaceae http://purl.obolibrary.org/obo/CHEBI_26401 purines http://purl.obolibrary.org/obo/CHEBI_35875 imidazopyrimidine http://purl.obolibrary.org/obo/NCBITaxon_56210 Calomys callosus http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/CHEBI_22693 barbiturates http://purl.obolibrary.org/obo/CHEBI_38337 pyrimidone http://purl.obolibrary.org/obo/NCBITaxon_56211 Calomys laucha http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/NCBITaxon_56212 Calomys musculinus http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/CHEBI_33365 platinum group metal atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/NCBITaxon_137207 Oligoryzomys longicaudatus http://purl.obolibrary.org/obo/NCBITaxon_29120 Oligoryzomys http://purl.obolibrary.org/obo/CHEBI_36388 saturated organic heterocyclic parent http://purl.obolibrary.org/obo/CHEBI_35552 heterocyclic organic fundamental parent http://purl.obolibrary.org/obo/NCBITaxon_37020 Oryzomys palustris http://purl.obolibrary.org/obo/NCBITaxon_29122 Oryzomys http://purl.obolibrary.org/obo/CHEBI_36607 cyclic acid anhydride http://purl.obolibrary.org/obo/CHEBI_36606 acid anhydride http://purl.obolibrary.org/obo/NCBITaxon_29185 Rotaliida http://purl.obolibrary.org/obo/NCBITaxon_29178 Foraminifera http://purl.obolibrary.org/obo/CHEBI_53556 toluene 2,4-diisocyanate http://purl.obolibrary.org/obo/CHEBI_53555 toluene meta-diisocyanate http://purl.obolibrary.org/obo/NCBITaxon_203397 Rotaliacea http://purl.obolibrary.org/obo/NCBITaxon_29185 Rotaliida http://purl.obolibrary.org/obo/SO_0000135 maternally_imprinted http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/NCBITaxon_3031852 Epsilonproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_29547 Campylobacterota http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/NCBITaxon_6936 Argasidae http://purl.obolibrary.org/obo/NCBITaxon_297308 Ixodoidea http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/NCBITaxon_297308 Ixodoidea http://purl.obolibrary.org/obo/NCBITaxon_5552 Trichosporon http://purl.obolibrary.org/obo/NCBITaxon_1759442 Trichosporonaceae http://purl.obolibrary.org/obo/NCBITaxon_29908 Sporothrix schenckii http://purl.obolibrary.org/obo/NCBITaxon_29907 Sporothrix http://purl.obolibrary.org/obo/NCBITaxon_333754 Alphapapillomavirus 10 http://purl.obolibrary.org/obo/NCBITaxon_333750 Alphapapillomavirus http://purl.obolibrary.org/obo/NCBITaxon_38946 Paracoccidioides http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_32594 Babesiidae http://purl.obolibrary.org/obo/NCBITaxon_5863 Piroplasmida http://purl.obolibrary.org/obo/NCBITaxon_1955773 Emergomyces http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_31244 Schistosomatoidea http://purl.obolibrary.org/obo/NCBITaxon_6180 Strigeidida http://purl.obolibrary.org/obo/NCBITaxon_229219 Blastomyces http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_27847 Echinostoma http://purl.obolibrary.org/obo/NCBITaxon_99737 Echinostomatidae http://purl.obolibrary.org/obo/NCBITaxon_3052189 Erythroparvovirus primate1 http://purl.obolibrary.org/obo/NCBITaxon_40121 Erythroparvovirus http://purl.obolibrary.org/obo/NCBITaxon_121221 Pediculidae http://purl.obolibrary.org/obo/NCBITaxon_30005 Anoplura http://purl.obolibrary.org/obo/NCBITaxon_1538075 Malasseziomycetes http://purl.obolibrary.org/obo/NCBITaxon_452284 Ustilaginomycotina http://purl.obolibrary.org/obo/NCBITaxon_7953 Cyprinidae http://purl.obolibrary.org/obo/NCBITaxon_30727 Cyprinoidei http://purl.obolibrary.org/obo/NCBITaxon_742845 Malasseziaceae http://purl.obolibrary.org/obo/NCBITaxon_162474 Malasseziales http://purl.obolibrary.org/obo/NCBITaxon_2743709 Danionidae http://purl.obolibrary.org/obo/NCBITaxon_30727 Cyprinoidei http://purl.obolibrary.org/obo/NCBITaxon_3051624 Amdoparvovirus carnivoran1 http://purl.obolibrary.org/obo/NCBITaxon_310911 Amdoparvovirus http://purl.obolibrary.org/obo/NCBITaxon_1759442 Trichosporonaceae http://purl.obolibrary.org/obo/NCBITaxon_1851469 Trichosporonales http://purl.obolibrary.org/obo/NCBITaxon_55193 Malassezia http://purl.obolibrary.org/obo/NCBITaxon_742845 Malasseziaceae http://purl.obolibrary.org/obo/NCBITaxon_91561 Artiodactyla http://purl.obolibrary.org/obo/NCBITaxon_314145 Laurasiatheria http://purl.obolibrary.org/obo/SYMP_0000531 splenomegaly http://purl.obolibrary.org/obo/SYMP_0000158 spleen symptom http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_314146 Euarchontoglires http://purl.obolibrary.org/obo/NCBITaxon_629 Yersinia http://purl.obolibrary.org/obo/NCBITaxon_1903411 Yersiniaceae http://purl.obolibrary.org/obo/NCBITaxon_160148 Troctomorpha http://purl.obolibrary.org/obo/NCBITaxon_1930602 Psocodea http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/NCBITaxon_314147 Glires http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/NCBITaxon_3193 Embryophyta http://purl.obolibrary.org/obo/NCBITaxon_1980517 Orthonairovirus http://purl.obolibrary.org/obo/NCBITaxon_1980415 Nairoviridae http://purl.obolibrary.org/obo/NCBITaxon_2801844 Arachnia http://purl.obolibrary.org/obo/NCBITaxon_31957 Propionibacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_1980456 Orthohantavirus andesense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1485 Clostridium http://purl.obolibrary.org/obo/NCBITaxon_31979 Clostridiaceae http://purl.obolibrary.org/obo/NCBITaxon_3052480 Orthohantavirus hantanense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_111527 pseudomallei group http://purl.obolibrary.org/obo/NCBITaxon_32008 Burkholderia http://purl.obolibrary.org/obo/NCBITaxon_3052493 Orthohantavirus puumalaense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_203490 Fusobacteriia http://purl.obolibrary.org/obo/NCBITaxon_32066 Fusobacteriota http://purl.obolibrary.org/obo/NCBITaxon_1489341 Osteoglossocephalai http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_3052498 Orthohantavirus seoulense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_186626 Otophysi http://purl.obolibrary.org/obo/NCBITaxon_32519 Ostariophysi http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_32523 Tetrapoda http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_3431295 Orthohantavirus mamorense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/NCBITaxon_32524 Amniota http://purl.obolibrary.org/obo/NCBITaxon_3052470 Orthohantavirus bayoui http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_3052477 Orthohantavirus dobravaense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_72171 Ziziphus http://purl.obolibrary.org/obo/NCBITaxon_325284 Paliureae http://purl.obolibrary.org/obo/NCBITaxon_3052490 Orthohantavirus nigrorivense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_1329799 Archelosauria http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_3052499 Orthohantavirus sinnombreense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_11646 Lentivirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_2732559 Rowavirales http://purl.obolibrary.org/obo/NCBITaxon_153136 Deltaretrovirus http://purl.obolibrary.org/obo/NCBITaxon_327045 Orthoretrovirinae http://purl.obolibrary.org/obo/NCBITaxon_10293 Alphaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_33090 Viridiplantae http://purl.obolibrary.org/obo/NCBITaxon_10357 Betaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/NCBITaxon_10374 Gammaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta http://purl.obolibrary.org/obo/HP_0004340 Abnormal circulating vitamin B concentration http://purl.obolibrary.org/obo/HP_0020350 Abnormal circulating vitamin concentration http://purl.obolibrary.org/obo/NCBITaxon_299071 Ajellomycetaceae http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/GENO_0000941 Y-linked inheritance http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/NCBITaxon_1593277 Onygenales incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/SYMP_0020064 high blood pressure http://purl.obolibrary.org/obo/SYMP_0020063 blood pressure http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/SO_0001986 upstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/NCBITaxon_33259 Toxocaridae http://purl.obolibrary.org/obo/NCBITaxon_33256 Ascaridoidea http://purl.obolibrary.org/obo/SO_0001987 downstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/NCBITaxon_6267 Anisakidae http://purl.obolibrary.org/obo/NCBITaxon_33256 Ascaridoidea http://purl.obolibrary.org/obo/NCBITaxon_1206794 Ecdysozoa http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/SO_0002017 conserved_intergenic_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_33317 Protostomia http://purl.obolibrary.org/obo/SO_0002074 intergenic_1kb_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/NCBITaxon_3701061 Eumetabola http://purl.obolibrary.org/obo/NCBITaxon_33340 Neoptera http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_1930602 Psocodea http://purl.obolibrary.org/obo/NCBITaxon_33342 Paraneoptera http://purl.obolibrary.org/obo/GENO_0000932 polygenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/NCBITaxon_173087 Human papillomavirus types http://purl.obolibrary.org/obo/NCBITaxon_333774 unclassified Papillomaviridae http://purl.obolibrary.org/obo/GENO_0000930 digenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/NCBITaxon_3701062 Aparaglossata http://purl.obolibrary.org/obo/NCBITaxon_33392 Endopterygota http://purl.obolibrary.org/obo/GENO_0000931 oligogenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_33511 Deuterostomia http://purl.obolibrary.org/obo/GENO_0000892 heteroplasmic mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000893 homoplasmic mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/NCBITaxon_5794 Apicomplexa http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_11072 Japanese encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3048158 Orthoflavivirus japonicum http://purl.obolibrary.org/obo/NCBITaxon_5653 Kinetoplastea http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_11086 Louping ill virus http://purl.obolibrary.org/obo/NCBITaxon_3048184 Orthoflavivirus loupingi http://purl.obolibrary.org/obo/NCBITaxon_337963 Neotominae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_11079 Murray Valley encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3048215 Orthoflavivirus murrayense http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_11083 Powassan virus http://purl.obolibrary.org/obo/NCBITaxon_3048287 Orthoflavivirus powassanense http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_11082 West Nile virus http://purl.obolibrary.org/obo/NCBITaxon_3048448 Orthoflavivirus nilense http://purl.obolibrary.org/obo/NCBITaxon_10066 Muridae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_11320 Influenza A virus http://purl.obolibrary.org/obo/NCBITaxon_2955291 Alphainfluenzavirus influenzae http://purl.obolibrary.org/obo/NCBITaxon_11250 human respiratory syncytial virus http://purl.obolibrary.org/obo/NCBITaxon_3049954 Orthopneumovirus hominis http://purl.obolibrary.org/obo/NCBITaxon_337677 Cricetidae http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_42407 Neotoma http://purl.obolibrary.org/obo/NCBITaxon_337963 Neotominae http://purl.obolibrary.org/obo/NCBITaxon_11552 Influenza C virus http://purl.obolibrary.org/obo/NCBITaxon_2955935 Gammainfluenzavirus influenzae http://purl.obolibrary.org/obo/NCBITaxon_11577 La Crosse virus http://purl.obolibrary.org/obo/NCBITaxon_3052409 Orthobunyavirus lacrosseense http://purl.obolibrary.org/obo/NCBITaxon_1437183 Mesangiospermae http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_118655 Oropouche virus http://purl.obolibrary.org/obo/NCBITaxon_3052429 Orthobunyavirus oropoucheense http://purl.obolibrary.org/obo/NCBITaxon_780 Rickettsia http://purl.obolibrary.org/obo/NCBITaxon_33988 Rickettsieae http://purl.obolibrary.org/obo/NCBITaxon_213849 Campylobacterales http://purl.obolibrary.org/obo/NCBITaxon_3031852 Epsilonproteobacteria http://purl.obolibrary.org/obo/NCBITaxon_69474 Orientia http://purl.obolibrary.org/obo/NCBITaxon_33988 Rickettsieae http://purl.obolibrary.org/obo/NCBITaxon_2560319 avian paramyxovirus 1 http://purl.obolibrary.org/obo/NCBITaxon_3051375 Orthoavulavirus javaense http://purl.obolibrary.org/obo/NCBITaxon_262 Francisella http://purl.obolibrary.org/obo/NCBITaxon_34064 Francisellaceae http://purl.obolibrary.org/obo/NCBITaxon_1643688 Leptospirales http://purl.obolibrary.org/obo/NCBITaxon_3118682 Leptospiria http://purl.obolibrary.org/obo/NCBITaxon_34105 Streptobacillus moniliformis http://purl.obolibrary.org/obo/NCBITaxon_34104 Streptobacillus http://purl.obolibrary.org/obo/HP_0025780 Abnormal volitional state http://purl.obolibrary.org/obo/HP_0025766 Abnormal affect http://purl.obolibrary.org/obo/HP_0034434 Abnormal communication http://purl.obolibrary.org/obo/HP_0025792 Abnormal cognitive process http://purl.obolibrary.org/obo/NCBITaxon_43987 Geotrichum http://purl.obolibrary.org/obo/NCBITaxon_34353 Dipodascaceae http://purl.obolibrary.org/obo/NCBITaxon_2842321 Kolmioviridae http://purl.obolibrary.org/obo/NCBITaxon_3471199 Ribozyviria incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_34390 Epidermophyton http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/CL_0011026 progenitor cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/NCBITaxon_5550 Trichophyton http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/SO_0000340 chromosome http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/NCBITaxon_1915381 Nannizzia http://purl.obolibrary.org/obo/NCBITaxon_34384 Arthrodermataceae http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/NCBITaxon_34395 Chaetothyriales http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_1000035 duplication http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/NCBITaxon_181088 Haemaphysalis flava http://purl.obolibrary.org/obo/NCBITaxon_34622 Haemaphysalis http://purl.obolibrary.org/obo/NCBITaxon_3050295 Cytomegalovirus humanbeta5 http://purl.obolibrary.org/obo/NCBITaxon_10358 Cytomegalovirus http://purl.obolibrary.org/obo/NCBITaxon_1230527 Curvularia hawaiiensis http://purl.obolibrary.org/obo/NCBITaxon_5502 Curvularia http://purl.obolibrary.org/obo/NCBITaxon_523089 Haemaphysalis concinna http://purl.obolibrary.org/obo/NCBITaxon_34622 Haemaphysalis http://purl.obolibrary.org/obo/NCBITaxon_6249 Ascaridomorpha http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/NCBITaxon_426455 Rhipicephalus http://purl.obolibrary.org/obo/NCBITaxon_34630 Rhipicephalus http://purl.obolibrary.org/obo/NCBITaxon_2072717 Gnathostomatomorpha http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/NCBITaxon_131221 Streptophytina http://purl.obolibrary.org/obo/NCBITaxon_35493 Streptophyta http://purl.obolibrary.org/obo/NCBITaxon_91942 Hortaea http://purl.obolibrary.org/obo/NCBITaxon_668547 Teratosphaeriaceae http://purl.obolibrary.org/obo/NCBITaxon_9895 Bovidae http://purl.obolibrary.org/obo/NCBITaxon_35500 Pecora http://purl.obolibrary.org/obo/NCBITaxon_5052 Aspergillus http://purl.obolibrary.org/obo/NCBITaxon_1131492 Aspergillaceae http://purl.obolibrary.org/obo/NCBITaxon_118882 Brucellaceae http://purl.obolibrary.org/obo/NCBITaxon_356 Hyphomicrobiales http://purl.obolibrary.org/obo/NCBITaxon_3049954 Orthopneumovirus hominis http://purl.obolibrary.org/obo/NCBITaxon_1868215 Orthopneumovirus http://purl.obolibrary.org/obo/NCBITaxon_772 Bartonellaceae http://purl.obolibrary.org/obo/NCBITaxon_356 Hyphomicrobiales http://purl.obolibrary.org/obo/NCBITaxon_3977 Euphorbiaceae http://purl.obolibrary.org/obo/NCBITaxon_3646 Malpighiales http://purl.obolibrary.org/obo/NCBITaxon_235631 Crotonoideae http://purl.obolibrary.org/obo/NCBITaxon_3977 Euphorbiaceae http://purl.obolibrary.org/obo/NCBITaxon_147368 Pooideae http://purl.obolibrary.org/obo/NCBITaxon_359160 BOP clade http://purl.obolibrary.org/obo/NCBITaxon_40355 Fonsecaea pedrosoi http://purl.obolibrary.org/obo/NCBITaxon_40354 Fonsecaea http://purl.obolibrary.org/obo/NCBITaxon_86057 Fonsecaea compacta http://purl.obolibrary.org/obo/NCBITaxon_40354 Fonsecaea http://purl.obolibrary.org/obo/NCBITaxon_325284 Paliureae http://purl.obolibrary.org/obo/NCBITaxon_3608 Rhamnaceae http://purl.obolibrary.org/obo/NCBITaxon_36087 Trichuris trichiura http://purl.obolibrary.org/obo/NCBITaxon_36086 Trichuris http://purl.obolibrary.org/obo/NCBITaxon_28843 Diphyllobothriidae http://purl.obolibrary.org/obo/NCBITaxon_1224679 Diphyllobothriidea http://purl.obolibrary.org/obo/NCBITaxon_121739 Lacazia http://purl.obolibrary.org/obo/NCBITaxon_1593277 Onygenales incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_1003877 Benincaseae http://purl.obolibrary.org/obo/NCBITaxon_3650 Cucurbitaceae http://purl.obolibrary.org/obo/NCBITaxon_3052225 Henipavirus nipahense http://purl.obolibrary.org/obo/NCBITaxon_260964 Henipavirus http://purl.obolibrary.org/obo/NCBITaxon_3656 Cucumis melo http://purl.obolibrary.org/obo/NCBITaxon_3655 Cucumis http://purl.obolibrary.org/obo/NCBITaxon_2267273 Dibothriocephalus http://purl.obolibrary.org/obo/NCBITaxon_28843 Diphyllobothriidae http://purl.obolibrary.org/obo/NCBITaxon_6033 Encephalitozoon http://purl.obolibrary.org/obo/NCBITaxon_36734 Unikaryonidae http://purl.obolibrary.org/obo/NCBITaxon_3608 Rhamnaceae http://purl.obolibrary.org/obo/NCBITaxon_3744 Rosales http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/NCBITaxon_3745 Rosaceae http://purl.obolibrary.org/obo/NCBITaxon_3744 Rosales http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinomycetota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/NCBITaxon_171637 Amygdaloideae http://purl.obolibrary.org/obo/NCBITaxon_3745 Rosaceae http://purl.obolibrary.org/obo/NCBITaxon_3750 Malus domestica http://purl.obolibrary.org/obo/NCBITaxon_3749 Malus http://purl.obolibrary.org/obo/NCBITaxon_544448 Mycoplasmatota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/NCBITaxon_36596 Prunus armeniaca http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/NCBITaxon_3980 Hevea http://purl.obolibrary.org/obo/NCBITaxon_235882 Micrandreae http://purl.obolibrary.org/obo/NCBITaxon_3758 Prunus domestica http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/NCBITaxon_7160 Aedes albopictus http://purl.obolibrary.org/obo/NCBITaxon_53541 Stegomyia http://purl.obolibrary.org/obo/NCBITaxon_5741 Giardia duodenalis http://purl.obolibrary.org/obo/NCBITaxon_5740 Giardia http://purl.obolibrary.org/obo/NCBITaxon_3760 Prunus persica http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/NCBITaxon_147100 Rhabditophora http://purl.obolibrary.org/obo/NCBITaxon_42229 Prunus avium http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/NCBITaxon_147572 Piedraia http://purl.obolibrary.org/obo/NCBITaxon_147571 Piedraiaceae http://purl.obolibrary.org/obo/NCBITaxon_44281 Pneumocystaceae http://purl.obolibrary.org/obo/NCBITaxon_37987 Pneumocystales http://purl.obolibrary.org/obo/NCBITaxon_147573 Piedraia hortae http://purl.obolibrary.org/obo/NCBITaxon_147572 Piedraia http://purl.obolibrary.org/obo/NCBITaxon_4479 Poaceae http://purl.obolibrary.org/obo/NCBITaxon_38820 Poales http://purl.obolibrary.org/obo/NCBITaxon_85819 Phthiraptera http://purl.obolibrary.org/obo/NCBITaxon_160148 Troctomorpha http://purl.obolibrary.org/obo/NCBITaxon_6312 Angiostrongylus http://purl.obolibrary.org/obo/NCBITaxon_55271 Metastrongylidae http://purl.obolibrary.org/obo/NCBITaxon_5039 Blastomyces dermatitidis http://purl.obolibrary.org/obo/NCBITaxon_229219 Blastomyces http://purl.obolibrary.org/obo/NCBITaxon_2060905 Blastomyces parvus http://purl.obolibrary.org/obo/NCBITaxon_229219 Blastomyces http://purl.obolibrary.org/obo/NCBITaxon_121759 Paracoccidioides brasiliensis http://purl.obolibrary.org/obo/NCBITaxon_38946 Paracoccidioides http://purl.obolibrary.org/obo/NCBITaxon_2682482 Mastigamoebida http://purl.obolibrary.org/obo/NCBITaxon_555406 Archamoebae http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/NCBITaxon_39087 Arvicolinae http://purl.obolibrary.org/obo/NCBITaxon_1714621 Borna disease virus 1 http://purl.obolibrary.org/obo/NCBITaxon_1714619 Orthobornavirus bornaense http://purl.obolibrary.org/obo/NCBITaxon_10088 Mus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_181550 Trichomonadidae http://purl.obolibrary.org/obo/NCBITaxon_37104 Trichomonadida http://purl.obolibrary.org/obo/NCBITaxon_10114 Rattus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_79923 Clonorchis sinensis http://purl.obolibrary.org/obo/NCBITaxon_79922 Clonorchis http://purl.obolibrary.org/obo/NCBITaxon_10128 Apodemus http://purl.obolibrary.org/obo/NCBITaxon_39107 Murinae http://purl.obolibrary.org/obo/NCBITaxon_235882 Micrandreae http://purl.obolibrary.org/obo/NCBITaxon_235631 Crotonoideae http://purl.obolibrary.org/obo/NCBITaxon_54292 Apodemus flavicollis http://purl.obolibrary.org/obo/NCBITaxon_400053 Sylvaemus group http://purl.obolibrary.org/obo/NCBITaxon_91943 Hortaea werneckii http://purl.obolibrary.org/obo/NCBITaxon_91942 Hortaea http://purl.obolibrary.org/obo/NCBITaxon_310911 Amdoparvovirus http://purl.obolibrary.org/obo/NCBITaxon_40119 Parvovirinae http://purl.obolibrary.org/obo/NCBITaxon_5740 Giardia http://purl.obolibrary.org/obo/NCBITaxon_68459 Giardiinae http://purl.obolibrary.org/obo/NCBITaxon_40121 Erythroparvovirus http://purl.obolibrary.org/obo/NCBITaxon_40119 Parvovirinae http://purl.obolibrary.org/obo/NCBITaxon_6333 Trichinella http://purl.obolibrary.org/obo/NCBITaxon_6332 Trichinellidae http://purl.obolibrary.org/obo/NCBITaxon_157540 Zygodontomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/FOODON_00002319 trout food product http://purl.obolibrary.org/obo/FOODON_00001623 atlantic salmon and trout food product http://purl.obolibrary.org/obo/NCBITaxon_29105 Calomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/FOODON_00001705 leaf celery food product http://purl.obolibrary.org/obo/FOODON_00001704 celery food product http://purl.obolibrary.org/obo/NCBITaxon_29120 Oligoryzomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/NCBITaxon_29122 Oryzomys http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/FOODON_00002239 shrimp food product http://purl.obolibrary.org/obo/FOODON_00001792 crustacean food product http://purl.obolibrary.org/obo/FOODON_00002244 snail food product http://purl.obolibrary.org/obo/FOODON_00002044 mollusc food product http://purl.obolibrary.org/obo/NCBITaxon_42414 Sigmodon http://purl.obolibrary.org/obo/NCBITaxon_40141 Sigmodontinae http://purl.obolibrary.org/obo/FOODON_00002185 rainbow trout food product http://purl.obolibrary.org/obo/FOODON_00002075 pacific salmon food product http://purl.obolibrary.org/obo/NCBITaxon_431037 unclassified Roseolovirus http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/FOODON_00001164 tomato food product http://purl.obolibrary.org/obo/FOODON_00001163 solanaceous fruit food product http://purl.obolibrary.org/obo/NCBITaxon_3050298 Roseolovirus humanbeta7 http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/FOODON_00001704 celery food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/NCBITaxon_3050297 Roseolovirus humanbeta6b http://purl.obolibrary.org/obo/NCBITaxon_40272 Roseolovirus http://purl.obolibrary.org/obo/NCBITaxon_32525 Theria http://purl.obolibrary.org/obo/NCBITaxon_40674 Mammalia http://purl.obolibrary.org/obo/FOODON_00001623 atlantic salmon and trout food product http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/NCBITaxon_4070 Solanaceae http://purl.obolibrary.org/obo/NCBITaxon_4069 Solanales http://purl.obolibrary.org/obo/FOODON_00002075 pacific salmon food product http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/NCBITaxon_424551 Solanoideae http://purl.obolibrary.org/obo/NCBITaxon_4070 Solanaceae http://purl.obolibrary.org/obo/FOODON_00001615 apricot food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/NCBITaxon_49274 Solanum subgen. Lycopersicon http://purl.obolibrary.org/obo/NCBITaxon_4107 Solanum http://purl.obolibrary.org/obo/FOODON_00001717 cherry food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/NCBITaxon_32443 Teleostei http://purl.obolibrary.org/obo/NCBITaxon_41665 Neopterygii http://purl.obolibrary.org/obo/FOODON_00002095 peach food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/NCBITaxon_5597 Scedosporium boydii http://purl.obolibrary.org/obo/NCBITaxon_41687 Scedosporium http://purl.obolibrary.org/obo/FOODON_00002161 plum fruit food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/NCBITaxon_8006 Salmoniformes http://purl.obolibrary.org/obo/NCBITaxon_41705 Protacanthopterygii http://purl.obolibrary.org/obo/NCBITaxon_2704949 Trypanosomatida http://purl.obolibrary.org/obo/NCBITaxon_2704647 Metakinetoplastina http://purl.obolibrary.org/obo/NCBITaxon_36330 Plasmodium ovale http://purl.obolibrary.org/obo/NCBITaxon_418103 Plasmodium http://purl.obolibrary.org/obo/NCBITaxon_5654 Trypanosomatidae http://purl.obolibrary.org/obo/NCBITaxon_2704949 Trypanosomatida http://purl.obolibrary.org/obo/NCBITaxon_5855 Plasmodium vivax http://purl.obolibrary.org/obo/NCBITaxon_418103 Plasmodium http://purl.obolibrary.org/obo/NCBITaxon_11020 Barmah Forest virus http://purl.obolibrary.org/obo/NCBITaxon_3426294 Alphavirus barmah http://purl.obolibrary.org/obo/NCBITaxon_5833 Plasmodium falciparum http://purl.obolibrary.org/obo/NCBITaxon_418107 Laverania http://purl.obolibrary.org/obo/NCBITaxon_11021 Eastern equine encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3426299 Alphavirus eastern http://purl.obolibrary.org/obo/NCBITaxon_43801 Ceratopogoninae http://purl.obolibrary.org/obo/NCBITaxon_41819 Ceratopogonidae http://purl.obolibrary.org/obo/NCBITaxon_11029 Ross River virus http://purl.obolibrary.org/obo/NCBITaxon_3426314 Alphavirus rossriver http://purl.obolibrary.org/obo/NCBITaxon_7157 Culicidae http://purl.obolibrary.org/obo/NCBITaxon_41827 Culicoidea http://purl.obolibrary.org/obo/NCBITaxon_11039 Western equine encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3426323 Alphavirus western http://purl.obolibrary.org/obo/NCBITaxon_41819 Ceratopogonidae http://purl.obolibrary.org/obo/NCBITaxon_41828 Chironomoidea http://purl.obolibrary.org/obo/NCBITaxon_11617 Arenaviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/NCBITaxon_7197 Psychodidae http://purl.obolibrary.org/obo/NCBITaxon_41831 Psychodoidea http://purl.obolibrary.org/obo/NCBITaxon_1980415 Nairoviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/NCBITaxon_1980418 Phenuiviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/NCBITaxon_12092 Hepatovirus A http://purl.obolibrary.org/obo/NCBITaxon_3407641 Hepatovirus ahepa http://purl.obolibrary.org/obo/NCBITaxon_1335626 Middle East respiratory syndrome-related coronavirus http://purl.obolibrary.org/obo/NCBITaxon_3433633 Betacoronavirus cameli http://purl.obolibrary.org/obo/NCBITaxon_138948 Enterovirus A http://purl.obolibrary.org/obo/NCBITaxon_3428500 Enterovirus alphacoxsackie http://purl.obolibrary.org/obo/NCBITaxon_23513 Rutaceae http://purl.obolibrary.org/obo/NCBITaxon_41937 Sapindales http://purl.obolibrary.org/obo/NCBITaxon_138949 Enterovirus B http://purl.obolibrary.org/obo/NCBITaxon_3428502 Enterovirus betacoxsackie http://purl.obolibrary.org/obo/NCBITaxon_5819 Haemosporida http://purl.obolibrary.org/obo/NCBITaxon_422676 Aconoidasida http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/NCBITaxon_3428505 Enterovirus coxsackiepol http://purl.obolibrary.org/obo/NCBITaxon_5863 Piroplasmida http://purl.obolibrary.org/obo/NCBITaxon_422676 Aconoidasida http://purl.obolibrary.org/obo/NCBITaxon_138951 Enterovirus D http://purl.obolibrary.org/obo/NCBITaxon_3428506 Enterovirus deconjuncti http://purl.obolibrary.org/obo/NCBITaxon_5809 Sarcocystidae http://purl.obolibrary.org/obo/NCBITaxon_423054 Eimeriorina http://purl.obolibrary.org/obo/NCBITaxon_194440 Primate T-lymphotropic virus 1 http://purl.obolibrary.org/obo/NCBITaxon_3428212 Deltaretrovirus priTlym1 http://purl.obolibrary.org/obo/NCBITaxon_35082 Cryptosporidiidae http://purl.obolibrary.org/obo/NCBITaxon_423054 Eimeriorina http://purl.obolibrary.org/obo/NCBITaxon_2169701 Onyong-nyong virus http://purl.obolibrary.org/obo/NCBITaxon_3426312 Alphavirus onyong http://purl.obolibrary.org/obo/NCBITaxon_42408 Neotoma albigula http://purl.obolibrary.org/obo/NCBITaxon_42407 Neotoma http://purl.obolibrary.org/obo/NCBITaxon_694009 Severe acute respiratory syndrome-related coronavirus http://purl.obolibrary.org/obo/NCBITaxon_3418604 Betacoronavirus pandemicum http://purl.obolibrary.org/obo/NCBITaxon_134742 Sigmodon alstoni http://purl.obolibrary.org/obo/NCBITaxon_42414 Sigmodon http://purl.obolibrary.org/obo/NCBITaxon_2697049 Severe acute respiratory syndrome coronavirus 2 http://purl.obolibrary.org/obo/NCBITaxon_3418604 Betacoronavirus pandemicum http://purl.obolibrary.org/obo/NCBITaxon_42415 Sigmodon hispidus http://purl.obolibrary.org/obo/NCBITaxon_42414 Sigmodon http://purl.obolibrary.org/obo/NCBITaxon_2732559 Rowavirales http://purl.obolibrary.org/obo/NCBITaxon_3412727 Pharingeaviricetes http://purl.obolibrary.org/obo/NCBITaxon_424574 Solaneae http://purl.obolibrary.org/obo/NCBITaxon_424551 Solanoideae http://purl.obolibrary.org/obo/NCBITaxon_2748762 Colorado tick fever coltivirus http://purl.obolibrary.org/obo/NCBITaxon_3428066 Coltivirus dermacentoris http://purl.obolibrary.org/obo/NCBITaxon_4107 Solanum http://purl.obolibrary.org/obo/NCBITaxon_424574 Solaneae http://purl.obolibrary.org/obo/NCBITaxon_34625 Hyalomma http://purl.obolibrary.org/obo/NCBITaxon_426438 Hyalomminae http://purl.obolibrary.org/obo/NCBITaxon_3412727 Pharingeaviricetes http://purl.obolibrary.org/obo/NCBITaxon_3412694 Polisuviricotina http://purl.obolibrary.org/obo/NCBITaxon_34622 Haemaphysalis http://purl.obolibrary.org/obo/NCBITaxon_426439 Haemaphysalinae http://purl.obolibrary.org/obo/NCBITaxon_37124 Chikungunya virus http://purl.obolibrary.org/obo/NCBITaxon_3426298 Alphavirus chikungunya http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/NCBITaxon_426441 Amblyomminae http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/NCBITaxon_6944 Ixodes http://purl.obolibrary.org/obo/NCBITaxon_426442 Ixodinae http://purl.obolibrary.org/obo/SO_0002245 five_prime_duplicated_transcript http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/NCBITaxon_127007 Rhipicephalus pumilio http://purl.obolibrary.org/obo/NCBITaxon_426455 Rhipicephalus http://purl.obolibrary.org/obo/SO_0002246 three_prime_duplicated_transcript http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/NCBITaxon_578835 Rhipicephalus sanguineus group http://purl.obolibrary.org/obo/NCBITaxon_426455 Rhipicephalus http://purl.obolibrary.org/obo/NCBITaxon_10359 Human betaherpesvirus 5 http://purl.obolibrary.org/obo/NCBITaxon_3050295 Cytomegalovirus humanbeta5 http://purl.obolibrary.org/obo/NCBITaxon_10368 Human betaherpesvirus 6 http://purl.obolibrary.org/obo/NCBITaxon_431037 unclassified Roseolovirus http://purl.obolibrary.org/obo/NCBITaxon_10372 Human betaherpesvirus 7 http://purl.obolibrary.org/obo/NCBITaxon_3050298 Roseolovirus humanbeta7 http://purl.obolibrary.org/obo/NCBITaxon_5600 Phialophora http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/NCBITaxon_10376 human gammaherpesvirus 4 http://purl.obolibrary.org/obo/NCBITaxon_3050299 Lymphocryptovirus humangamma4 http://purl.obolibrary.org/obo/NCBITaxon_66225 Phaeoannellomyces http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/NCBITaxon_5583 Exophiala http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/SYMP_0000585 sleep related movement disorder http://purl.obolibrary.org/obo/SYMP_0000566 sleep disturbance http://purl.obolibrary.org/obo/NCBITaxon_5587 Rhinocladiella http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/SO_0001260 sequence_collection http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/NCBITaxon_82105 Cladophialophora http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/NCBITaxon_40354 Fonsecaea http://purl.obolibrary.org/obo/NCBITaxon_43219 Herpotrichiellaceae http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/NCBITaxon_436489 Saurischia http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/NCBITaxon_436491 Theropoda http://purl.obolibrary.org/obo/GENO_0000149 X-linked recessive inheritance http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/NCBITaxon_436492 Coelurosauria http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/NCBITaxon_480118 Eremoneura http://purl.obolibrary.org/obo/NCBITaxon_43733 Muscomorpha http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/NCBITaxon_1262365 Tabanoidea http://purl.obolibrary.org/obo/NCBITaxon_43735 Tabanomorpha http://purl.obolibrary.org/obo/HP_0032252 Granuloma http://purl.obolibrary.org/obo/HP_0032251 Abnormal immune system morphology http://purl.obolibrary.org/obo/NCBITaxon_43741 Acalyptratae http://purl.obolibrary.org/obo/NCBITaxon_43738 Schizophora http://purl.obolibrary.org/obo/HP_0033095 Increased sulfur amino acid level in urine http://purl.obolibrary.org/obo/HP_0033100 Increased proteinogenic amino acid level in urine http://purl.obolibrary.org/obo/NCBITaxon_43750 Sciomyzoidea http://purl.obolibrary.org/obo/NCBITaxon_43741 Acalyptratae http://purl.obolibrary.org/obo/NCBITaxon_169440 Coelopidae http://purl.obolibrary.org/obo/NCBITaxon_43750 Sciomyzoidea http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/NCBITaxon_41827 Culicoidea http://purl.obolibrary.org/obo/NCBITaxon_43786 Culicomorpha http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/NCBITaxon_41828 Chironomoidea http://purl.obolibrary.org/obo/NCBITaxon_43786 Culicomorpha http://purl.obolibrary.org/obo/FOODON_00002487 jujube fruit (raw) http://purl.obolibrary.org/obo/FOODON_00003652 jujube fruit http://purl.obolibrary.org/obo/NCBITaxon_11084 Tick-borne encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3052465 Orthoflavivirus encephalitidis http://purl.obolibrary.org/obo/NCBITaxon_41831 Psychodoidea http://purl.obolibrary.org/obo/NCBITaxon_43787 Psychodomorpha http://purl.obolibrary.org/obo/NCBITaxon_11080 St. Louis encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3052468 Orthoflavivirus louisense http://purl.obolibrary.org/obo/NCBITaxon_58262 Culicoidini http://purl.obolibrary.org/obo/NCBITaxon_43801 Ceratopogoninae http://purl.obolibrary.org/obo/NCBITaxon_11588 Rift Valley fever virus http://purl.obolibrary.org/obo/NCBITaxon_3052676 Phlebovirus riftense http://purl.obolibrary.org/obo/NCBITaxon_12637 Dengue virus http://purl.obolibrary.org/obo/NCBITaxon_3052464 Orthoflavivirus denguei http://purl.obolibrary.org/obo/FOODON_00001165 solanaceous food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/FOODON_00001175 plant stem food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/FOODON_00001242 spice or herb http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/NCBITaxon_1056966 Aedini http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/NCBITaxon_53549 Sabethini http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/FOODON_00001262 botanical fruit food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/NCBITaxon_53550 Culicini http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/NCBITaxon_59848 Chrysopsini http://purl.obolibrary.org/obo/NCBITaxon_43920 Chrysopsinae http://purl.obolibrary.org/obo/FOODON_00002141 plant fruit as vegetable food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/NCBITaxon_4753 Pneumocystis http://purl.obolibrary.org/obo/NCBITaxon_44281 Pneumocystaceae http://purl.obolibrary.org/obo/FOODON_00003652 jujube fruit http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/NCBITaxon_445 Legionella http://purl.obolibrary.org/obo/NCBITaxon_444 Legionellaceae http://purl.obolibrary.org/obo/FOODON_00001150 cucurbit fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/NCBITaxon_1437197 Petrosaviidae http://purl.obolibrary.org/obo/NCBITaxon_4447 Liliopsida http://purl.obolibrary.org/obo/FOODON_00001151 citrus fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/NCBITaxon_446 Legionella pneumophila http://purl.obolibrary.org/obo/NCBITaxon_445 Legionella http://purl.obolibrary.org/obo/FOODON_00001158 pomaceous fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/NCBITaxon_44537 Pyretophorus http://purl.obolibrary.org/obo/NCBITaxon_44534 Cellia http://purl.obolibrary.org/obo/FOODON_00001163 solanaceous fruit food product http://purl.obolibrary.org/obo/FOODON_00001165 solanaceous food product http://purl.obolibrary.org/obo/NCBITaxon_59140 Myzomyia http://purl.obolibrary.org/obo/NCBITaxon_44534 Cellia http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/NCBITaxon_44542 gambiae species complex http://purl.obolibrary.org/obo/NCBITaxon_44537 Pyretophorus http://purl.obolibrary.org/obo/NCBITaxon_7165 Anopheles gambiae http://purl.obolibrary.org/obo/NCBITaxon_44542 gambiae species complex http://purl.obolibrary.org/obo/FOODON_00001251 avian food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/NCBITaxon_29031 Phlebotomus papatasi http://purl.obolibrary.org/obo/NCBITaxon_44556 Phlebotomus http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/NCBITaxon_447135 Myodes glareolus http://purl.obolibrary.org/obo/NCBITaxon_447134 Myodes http://purl.obolibrary.org/obo/FOODON_00001274 egg food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/NCBITaxon_359160 BOP clade http://purl.obolibrary.org/obo/NCBITaxon_4479 Poaceae http://purl.obolibrary.org/obo/FOODON_00001275 chicken egg food product http://purl.obolibrary.org/obo/FOODON_00001105 avian egg food product http://purl.obolibrary.org/obo/NCBITaxon_4890 Ascomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/FOODON_00001109 caprine dairy food product http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/NCBITaxon_5204 Basidiomycota http://purl.obolibrary.org/obo/NCBITaxon_451864 Dikarya http://purl.obolibrary.org/obo/FOODON_00001118 cattle dairy food product http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/FOODON_00001771 cow milk based food product http://purl.obolibrary.org/obo/FOODON_00001257 milk or milk based food product http://purl.obolibrary.org/obo/NCBITaxon_147553 Pneumocystomycetes http://purl.obolibrary.org/obo/NCBITaxon_451866 Taphrinomycotina http://purl.obolibrary.org/obo/NCBITaxon_134362 Capnodiales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/NCBITaxon_5014 Dothideales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/FOODON_00002029 melon food product http://purl.obolibrary.org/obo/FOODON_00001150 cucurbit fruit food product http://purl.obolibrary.org/obo/NCBITaxon_2726946 Cladosporiales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/FOODON_00002071 orange food product http://purl.obolibrary.org/obo/FOODON_00001151 citrus fruit food product http://purl.obolibrary.org/obo/NCBITaxon_2726947 Mycosphaerellales http://purl.obolibrary.org/obo/NCBITaxon_451867 Dothideomycetidae http://purl.obolibrary.org/obo/NCBITaxon_92860 Pleosporales http://purl.obolibrary.org/obo/NCBITaxon_451868 Pleosporomycetidae http://purl.obolibrary.org/obo/FOODON_00001611 apple food product http://purl.obolibrary.org/obo/FOODON_00001158 pomaceous fruit food product http://purl.obolibrary.org/obo/NCBITaxon_34395 Chaetothyriales http://purl.obolibrary.org/obo/NCBITaxon_451870 Chaetothyriomycetidae http://purl.obolibrary.org/obo/NCBITaxon_33183 Onygenales http://purl.obolibrary.org/obo/NCBITaxon_451871 Eurotiomycetidae http://purl.obolibrary.org/obo/FOODON_00002156 plant stem or spear food product http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/NCBITaxon_5042 Eurotiales http://purl.obolibrary.org/obo/NCBITaxon_451871 Eurotiomycetidae http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/FOODON_00001242 spice or herb http://purl.obolibrary.org/obo/NCBITaxon_5498 Cladosporium http://purl.obolibrary.org/obo/NCBITaxon_452563 Cladosporiaceae http://purl.obolibrary.org/obo/FOODON_00001684 carp food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/NCBITaxon_12058 Picornaviridae http://purl.obolibrary.org/obo/NCBITaxon_464095 Picornavirales http://purl.obolibrary.org/obo/FOODON_00001750 cod food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/NCBITaxon_38820 Poales http://purl.obolibrary.org/obo/NCBITaxon_4734 commelinids http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/NCBITaxon_42068 Pneumocystis jirovecii http://purl.obolibrary.org/obo/NCBITaxon_4753 Pneumocystis http://purl.obolibrary.org/obo/FOODON_00001105 avian egg food product http://purl.obolibrary.org/obo/FOODON_00001274 egg food product http://purl.obolibrary.org/obo/NCBITaxon_163158 Xenopsylla http://purl.obolibrary.org/obo/NCBITaxon_476427 Xenopsyllinae http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/NCBITaxon_43738 Schizophora http://purl.obolibrary.org/obo/NCBITaxon_480117 Cyclorrhapha http://purl.obolibrary.org/obo/FOODON_00001257 milk or milk based food product http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/NCBITaxon_480117 Cyclorrhapha http://purl.obolibrary.org/obo/NCBITaxon_480118 Eremoneura http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/NCBITaxon_482 Neisseria http://purl.obolibrary.org/obo/NCBITaxon_481 Neisseriaceae http://purl.obolibrary.org/obo/FOODON_00001264 legume food product http://purl.obolibrary.org/obo/FOODON_00001262 botanical fruit food product http://purl.obolibrary.org/obo/NCBITaxon_4081 Solanum lycopersicum http://purl.obolibrary.org/obo/NCBITaxon_49274 Solanum subgen. Lycopersicon http://purl.obolibrary.org/obo/FOODON_00001792 crustacean food product http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/NCBITaxon_1570301 Saccotheciaceae http://purl.obolibrary.org/obo/NCBITaxon_5014 Dothideales http://purl.obolibrary.org/obo/FOODON_00002044 mollusc food product http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/NCBITaxon_28568 Trichocomaceae http://purl.obolibrary.org/obo/NCBITaxon_5042 Eurotiales http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_1131492 Aspergillaceae http://purl.obolibrary.org/obo/NCBITaxon_5042 Eurotiales http://purl.obolibrary.org/obo/NCBITaxon_2720872 Fumigati http://purl.obolibrary.org/obo/NCBITaxon_5052 Aspergillus http://purl.obolibrary.org/obo/NCBITaxon_8016 Oncorhynchus http://purl.obolibrary.org/obo/NCBITaxon_504568 Salmoninae http://purl.obolibrary.org/obo/NCBITaxon_2790996 Mycoplasmoidales http://purl.obolibrary.org/obo/NCBITaxon_544448 Mycoplasmatota http://purl.obolibrary.org/obo/NCBITaxon_8028 Salmo http://purl.obolibrary.org/obo/NCBITaxon_504568 Salmoninae http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/NCBITaxon_85512 Dicondylia http://purl.obolibrary.org/obo/NCBITaxon_50557 Insecta http://purl.obolibrary.org/obo/NCBITaxon_37104 Trichomonadida http://purl.obolibrary.org/obo/NCBITaxon_5719 Parabasalia http://purl.obolibrary.org/obo/NCBITaxon_517 Bordetella http://purl.obolibrary.org/obo/NCBITaxon_506 Alcaligenaceae http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/NCBITaxon_2752537 Talaromyces sect. Talaromyces http://purl.obolibrary.org/obo/NCBITaxon_5094 Talaromyces http://purl.obolibrary.org/obo/SO_0001785 structural_alteration http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/NCBITaxon_809 Chlamydiaceae http://purl.obolibrary.org/obo/NCBITaxon_51291 Chlamydiales http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/NCBITaxon_5152 Ophiostomataceae http://purl.obolibrary.org/obo/NCBITaxon_5151 Ophiostomatales http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/NCBITaxon_29907 Sporothrix http://purl.obolibrary.org/obo/NCBITaxon_5152 Ophiostomataceae http://purl.obolibrary.org/obo/SO_0002162 short_tandem_repeat_expansion http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/NCBITaxon_519 Bordetella parapertussis http://purl.obolibrary.org/obo/NCBITaxon_517 Bordetella http://purl.obolibrary.org/obo/SO_0002163 short_tandem_repeat_contraction http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/NCBITaxon_520 Bordetella pertussis http://purl.obolibrary.org/obo/NCBITaxon_517 Bordetella http://purl.obolibrary.org/obo/SO_0002165 trinucleotide_repeat_expansion http://purl.obolibrary.org/obo/SO_0002162 short_tandem_repeat_expansion http://purl.obolibrary.org/obo/NCBITaxon_5302 Agaricomycotina http://purl.obolibrary.org/obo/NCBITaxon_5204 Basidiomycota http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/NCBITaxon_452284 Ustilaginomycotina http://purl.obolibrary.org/obo/NCBITaxon_5204 Basidiomycota http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/NCBITaxon_526525 Erysipelotrichales http://purl.obolibrary.org/obo/NCBITaxon_526524 Erysipelotrichia http://purl.obolibrary.org/obo/NCBITaxon_128827 Erysipelotrichaceae http://purl.obolibrary.org/obo/NCBITaxon_526525 Erysipelotrichales http://purl.obolibrary.org/obo/NCBITaxon_61462 Gnathostomatoidea http://purl.obolibrary.org/obo/NCBITaxon_2072717 Gnathostomatomorpha http://purl.obolibrary.org/obo/NCBITaxon_155616 Tremellomycetes http://purl.obolibrary.org/obo/NCBITaxon_5302 Agaricomycotina http://purl.obolibrary.org/obo/NCBITaxon_162997 Culex annulirostris http://purl.obolibrary.org/obo/NCBITaxon_53527 Culex http://purl.obolibrary.org/obo/NCBITaxon_2082224 Strongyloidoidea http://purl.obolibrary.org/obo/NCBITaxon_2082223 Panagrolaimomorpha http://purl.obolibrary.org/obo/NCBITaxon_7178 Culex tritaeniorhynchus http://purl.obolibrary.org/obo/NCBITaxon_53527 Culex http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/NCBITaxon_7174 Culex http://purl.obolibrary.org/obo/NCBITaxon_53550 Culicini http://purl.obolibrary.org/obo/GENO_0000148 autosomal recessive inheritance http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/NCBITaxon_570 Klebsiella http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/FOODON_00001811 dill food product http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/NCBITaxon_590 Salmonella http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/FOODON_00002084 parsley food product http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/NCBITaxon_548681 Herpesvirales http://purl.obolibrary.org/obo/GENO_0000970 chromosomal deletion inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/NCBITaxon_5501 Coccidioides immitis http://purl.obolibrary.org/obo/NCBITaxon_5500 Coccidioides http://purl.obolibrary.org/obo/GENO_0000971 chromosomal duplication inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/NCBITaxon_5970 Exophiala dermatitidis http://purl.obolibrary.org/obo/NCBITaxon_5583 Exophiala http://purl.obolibrary.org/obo/GENO_0000972 chromosomal rearrangement inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/NCBITaxon_86056 Rhinocladiella mackenziei http://purl.obolibrary.org/obo/NCBITaxon_5587 Rhinocladiella http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/NCBITaxon_5593 Microascaceae http://purl.obolibrary.org/obo/NCBITaxon_5592 Microascales http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_41687 Scedosporium http://purl.obolibrary.org/obo/NCBITaxon_5593 Microascaceae http://purl.obolibrary.org/obo/NCBITaxon_543769 Rhizaria http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/NCBITaxon_746128 Aspergillus fumigatus http://purl.obolibrary.org/obo/NCBITaxon_2720872 Fumigati http://purl.obolibrary.org/obo/NCBITaxon_2704647 Metakinetoplastina http://purl.obolibrary.org/obo/NCBITaxon_5653 Kinetoplastea http://purl.obolibrary.org/obo/NCBITaxon_452563 Cladosporiaceae http://purl.obolibrary.org/obo/NCBITaxon_2726946 Cladosporiales http://purl.obolibrary.org/obo/NCBITaxon_1286322 Leishmaniinae http://purl.obolibrary.org/obo/NCBITaxon_5654 Trypanosomatidae http://purl.obolibrary.org/obo/NCBITaxon_668547 Teratosphaeriaceae http://purl.obolibrary.org/obo/NCBITaxon_2726947 Mycosphaerellales http://purl.obolibrary.org/obo/NCBITaxon_3390273 Klebsiella pneumoniae complex http://purl.obolibrary.org/obo/NCBITaxon_570 Klebsiella http://purl.obolibrary.org/obo/SYMP_0000592 excessive crying of infant http://purl.obolibrary.org/obo/SYMP_0000411 infant symptom http://purl.obolibrary.org/obo/NCBITaxon_34632 Rhipicephalus sanguineus http://purl.obolibrary.org/obo/NCBITaxon_578835 Rhipicephalus sanguineus group http://purl.obolibrary.org/obo/NCBITaxon_333750 Alphapapillomavirus http://purl.obolibrary.org/obo/NCBITaxon_2169595 Firstpapillomavirinae http://purl.obolibrary.org/obo/NCBITaxon_1280412 Conoidasida http://purl.obolibrary.org/obo/NCBITaxon_5794 Apicomplexa http://purl.obolibrary.org/obo/NCBITaxon_422676 Aconoidasida http://purl.obolibrary.org/obo/NCBITaxon_5794 Apicomplexa http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_75739 Eucoccidiorida http://purl.obolibrary.org/obo/NCBITaxon_5796 Coccidia http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/NCBITaxon_58023 Tracheophyta http://purl.obolibrary.org/obo/SO_0001773 lethal_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_3398 Magnoliopsida http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/SO_0001786 loss_of_heterozygosity http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_5810 Toxoplasma http://purl.obolibrary.org/obo/NCBITaxon_5809 Sarcocystidae http://purl.obolibrary.org/obo/SO_0002052 dominant_negative_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_1639119 Plasmodiidae http://purl.obolibrary.org/obo/NCBITaxon_5819 Haemosporida http://purl.obolibrary.org/obo/SO_0002053 gain_of_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_41820 Culicoides http://purl.obolibrary.org/obo/NCBITaxon_58262 Culicoidini http://purl.obolibrary.org/obo/SO_0002054 loss_of_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_59142 funestus group http://purl.obolibrary.org/obo/NCBITaxon_59140 Myzomyia http://purl.obolibrary.org/obo/SO_0002055 null_mutation http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_62324 Anopheles funestus http://purl.obolibrary.org/obo/NCBITaxon_59142 funestus group http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_36734 Unikaryonidae http://purl.obolibrary.org/obo/NCBITaxon_6032 Apansporoblastina http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/NCBITaxon_33213 Bilateria http://purl.obolibrary.org/obo/NCBITaxon_6072 Eumetazoa http://purl.obolibrary.org/obo/NCBITaxon_11286 Lyssavirus http://purl.obolibrary.org/obo/NCBITaxon_2842407 Alpharhabdovirinae http://purl.obolibrary.org/obo/NCBITaxon_147100 Rhabditophora http://purl.obolibrary.org/obo/NCBITaxon_6157 Platyhelminthes http://purl.obolibrary.org/obo/NCBITaxon_2790998 Mycoplasmoidaceae http://purl.obolibrary.org/obo/NCBITaxon_2790996 Mycoplasmoidales http://purl.obolibrary.org/obo/NCBITaxon_3471199 Ribozyviria incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_2842242 Ribozyviria http://purl.obolibrary.org/obo/NCBITaxon_6200 Eucestoda http://purl.obolibrary.org/obo/NCBITaxon_6199 Cestoda http://purl.obolibrary.org/obo/NCBITaxon_39759 Deltavirus http://purl.obolibrary.org/obo/NCBITaxon_2842321 Kolmioviridae http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/NCBITaxon_6236 Rhabditida http://purl.obolibrary.org/obo/NCBITaxon_621 Shigella boydii http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/NCBITaxon_622 Shigella dysenteriae http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/NCBITaxon_623 Shigella flexneri http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/UBERON_0005913 zone of bone organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/NCBITaxon_624 Shigella sonnei http://purl.obolibrary.org/obo/NCBITaxon_620 Shigella http://purl.obolibrary.org/obo/UBERON_0034979 nonchromaffin paraganglion http://purl.obolibrary.org/obo/UBERON_0034978 paraganglion (generic) http://purl.obolibrary.org/obo/NCBITaxon_6201 Cyclophyllidea http://purl.obolibrary.org/obo/NCBITaxon_6200 Eucestoda http://purl.obolibrary.org/obo/NCBITaxon_1224679 Diphyllobothriidea http://purl.obolibrary.org/obo/NCBITaxon_6200 Eucestoda http://purl.obolibrary.org/obo/SYMP_0020002 anal abscess http://purl.obolibrary.org/obo/SYMP_0000672 abscess http://purl.obolibrary.org/obo/NCBITaxon_6208 Taeniidae http://purl.obolibrary.org/obo/NCBITaxon_6201 Cyclophyllidea http://purl.obolibrary.org/obo/SYMP_0000723 multiple abscesses http://purl.obolibrary.org/obo/SYMP_0000672 abscess http://purl.obolibrary.org/obo/NCBITaxon_6204 Taenia solium http://purl.obolibrary.org/obo/NCBITaxon_6202 Taenia http://purl.obolibrary.org/obo/NCBITaxon_10632 JC polyomavirus http://purl.obolibrary.org/obo/NCBITaxon_1891763 Betapolyomavirus secuhominis http://purl.obolibrary.org/obo/NCBITaxon_6206 Taenia saginata http://purl.obolibrary.org/obo/NCBITaxon_6202 Taenia http://purl.obolibrary.org/obo/NCBITaxon_11572 Orthobunyavirus http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_6202 Taenia http://purl.obolibrary.org/obo/NCBITaxon_6208 Taeniidae http://purl.obolibrary.org/obo/NCBITaxon_6209 Echinococcus http://purl.obolibrary.org/obo/NCBITaxon_6208 Taeniidae http://purl.obolibrary.org/obo/NCBITaxon_119088 Enoplea http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_11584 Phlebovirus http://purl.obolibrary.org/obo/NCBITaxon_1980418 Phenuiviridae http://purl.obolibrary.org/obo/NCBITaxon_119089 Chromadorea http://purl.obolibrary.org/obo/NCBITaxon_6231 Nematoda http://purl.obolibrary.org/obo/NCBITaxon_1891762 Betapolyomavirus hominis http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_33256 Ascaridoidea http://purl.obolibrary.org/obo/NCBITaxon_6249 Ascaridomorpha http://purl.obolibrary.org/obo/NCBITaxon_1891763 Betapolyomavirus secuhominis http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_6268 Anisakis http://purl.obolibrary.org/obo/NCBITaxon_6267 Anisakidae http://purl.obolibrary.org/obo/NCBITaxon_3052518 Orthonairovirus haemorrhagiae http://purl.obolibrary.org/obo/NCBITaxon_1980517 Orthonairovirus http://purl.obolibrary.org/obo/NCBITaxon_6270 Pseudoterranova http://purl.obolibrary.org/obo/NCBITaxon_6267 Anisakidae http://purl.obolibrary.org/obo/HP_0001880 Increased total eosinophil count http://purl.obolibrary.org/obo/HP_0020064 Abnormal total eosinophil count http://purl.obolibrary.org/obo/NCBITaxon_644710 Anisakis simplex complex http://purl.obolibrary.org/obo/NCBITaxon_6268 Anisakis http://purl.obolibrary.org/obo/HP_0032158 Unusual infection by anatomical site http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/NCBITaxon_1649845 Yersinia pseudotuberculosis complex http://purl.obolibrary.org/obo/NCBITaxon_629 Yersinia http://purl.obolibrary.org/obo/UBERON_0001982 capillary http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/NCBITaxon_455381 Capillariidae http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/HP_4000072 Abnormal language feature http://purl.obolibrary.org/obo/HP_0034434 Abnormal communication http://purl.obolibrary.org/obo/NCBITaxon_119093 Trichuridae http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/NCBITaxon_1783257 PVC group http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/NCBITaxon_6332 Trichinellidae http://purl.obolibrary.org/obo/NCBITaxon_6329 Trichinellida http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/NCBITaxon_63672 Turbo http://purl.obolibrary.org/obo/NCBITaxon_63671 Turbinidae http://purl.obolibrary.org/obo/NCBITaxon_203691 Spirochaetota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/NCBITaxon_133423 Batillus http://purl.obolibrary.org/obo/NCBITaxon_63672 Turbo http://purl.obolibrary.org/obo/NCBITaxon_6448 Gastropoda http://purl.obolibrary.org/obo/NCBITaxon_6447 Mollusca http://purl.obolibrary.org/obo/NCBITaxon_29547 Campylobacterota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/NCBITaxon_216275 Vetigastropoda http://purl.obolibrary.org/obo/NCBITaxon_6448 Gastropoda http://purl.obolibrary.org/obo/NCBITaxon_573 Klebsiella pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_3390273 Klebsiella pneumoniae complex http://purl.obolibrary.org/obo/NCBITaxon_139 Borreliella burgdorferi http://purl.obolibrary.org/obo/NCBITaxon_64895 Borreliella http://purl.obolibrary.org/obo/NCBITaxon_3407641 Hepatovirus ahepa http://purl.obolibrary.org/obo/NCBITaxon_3429217 Hepatovirus fejalco http://purl.obolibrary.org/obo/NCBITaxon_197563 Mandibulata http://purl.obolibrary.org/obo/NCBITaxon_6656 Arthropoda http://purl.obolibrary.org/obo/HP_0020350 Abnormal circulating vitamin concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0430071 Abnormal circulating organic compound concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/NCBITaxon_6843 Chelicerata http://purl.obolibrary.org/obo/NCBITaxon_6656 Arthropoda http://purl.obolibrary.org/obo/NCBITaxon_11118 Coronaviridae http://purl.obolibrary.org/obo/NCBITaxon_2499399 Cornidovirineae http://purl.obolibrary.org/obo/NCBITaxon_72041 Eumalacostraca http://purl.obolibrary.org/obo/NCBITaxon_6681 Malacostraca http://purl.obolibrary.org/obo/NCBITaxon_6684 Dendrobranchiata http://purl.obolibrary.org/obo/NCBITaxon_6683 Decapoda http://purl.obolibrary.org/obo/NCBITaxon_11040 Rubivirus http://purl.obolibrary.org/obo/NCBITaxon_2560066 Matonaviridae http://purl.obolibrary.org/obo/NCBITaxon_6692 Pleocyemata http://purl.obolibrary.org/obo/NCBITaxon_6683 Decapoda http://purl.obolibrary.org/obo/MIM_621588 susceptibility to epidermodysplasia verruciformis 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_177900 susceptibility to psoriasis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_111520 Penaeoidea http://purl.obolibrary.org/obo/NCBITaxon_6684 Dendrobranchiata http://purl.obolibrary.org/obo/MIM_601484 susceptibility to psoriasis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_133894 Penaeus http://purl.obolibrary.org/obo/NCBITaxon_6685 Penaeidae http://purl.obolibrary.org/obo/MIM_603935 susceptibility to psoriasis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6752 Brachyura http://purl.obolibrary.org/obo/NCBITaxon_6692 Pleocyemata http://purl.obolibrary.org/obo/MIM_604316 susceptibility to psoriasis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_605364 susceptibility to psoriasis 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_116704 Eubrachyura http://purl.obolibrary.org/obo/NCBITaxon_6752 Brachyura http://purl.obolibrary.org/obo/MIM_607857 susceptibility to psoriasis 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_85552 Scylla paramamosain http://purl.obolibrary.org/obo/NCBITaxon_6760 Scylla http://purl.obolibrary.org/obo/MIM_608391 susceptibility to autoimmune disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608392 susceptibility to autoimmune disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6757 Portunidae http://purl.obolibrary.org/obo/NCBITaxon_6774 Portunoidea http://purl.obolibrary.org/obo/NCBITaxon_6854 Arachnida http://purl.obolibrary.org/obo/NCBITaxon_6843 Chelicerata http://purl.obolibrary.org/obo/MIM_609400 susceptibility to autoimmune disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6933 Acari http://purl.obolibrary.org/obo/NCBITaxon_6854 Arachnida http://purl.obolibrary.org/obo/MIM_610707 susceptibility to psoriasis 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_29189 Ammonia http://purl.obolibrary.org/obo/NCBITaxon_69034 Rotaliidae http://purl.obolibrary.org/obo/MIM_612410 susceptibility to psoriasis 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6934 Parasitiformes http://purl.obolibrary.org/obo/NCBITaxon_6933 Acari http://purl.obolibrary.org/obo/MIM_614070 susceptibility to psoriasis 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6946 Acariformes http://purl.obolibrary.org/obo/NCBITaxon_6933 Acari http://purl.obolibrary.org/obo/MIM_102300 susceptibility to restless legs syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6935 Ixodida http://purl.obolibrary.org/obo/NCBITaxon_6934 Parasitiformes http://purl.obolibrary.org/obo/NCBITaxon_297308 Ixodoidea http://purl.obolibrary.org/obo/NCBITaxon_6935 Ixodida http://purl.obolibrary.org/obo/MIM_106300 susceptibility to spondyloarthropathy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_140564 Ornithodoros parkeri http://purl.obolibrary.org/obo/NCBITaxon_6937 Ornithodoros http://purl.obolibrary.org/obo/MIM_125480 major affective disorder 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_69826 Ornithodoros savignyi http://purl.obolibrary.org/obo/NCBITaxon_6937 Ornithodoros http://purl.obolibrary.org/obo/MIM_126200 susceptibility to multiple sclerosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_693766 Anemiaceae http://purl.obolibrary.org/obo/NCBITaxon_693762 Schizaeales http://purl.obolibrary.org/obo/MIM_127700 susceptibility to dyslexia 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_426438 Hyalomminae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/MIM_131200 susceptibility to endometriosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_426439 Haemaphysalinae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/MIM_133180 susceptibility to acute erythroid leukemia http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_426441 Amblyomminae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/MIM_137800 glioma susceptibility 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_426442 Ixodinae http://purl.obolibrary.org/obo/NCBITaxon_6939 Ixodidae http://purl.obolibrary.org/obo/MIM_140600 osteoarthritis susceptibility 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_2509494 Merbecovirus http://purl.obolibrary.org/obo/NCBITaxon_694002 Betacoronavirus http://purl.obolibrary.org/obo/NCBITaxon_2509511 Sarbecovirus http://purl.obolibrary.org/obo/NCBITaxon_694002 Betacoronavirus http://purl.obolibrary.org/obo/MIM_142623 susceptibility to hirschsprung disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_2901879 Severe acute respiratory syndrome coronavirus http://purl.obolibrary.org/obo/NCBITaxon_694009 Severe acute respiratory syndrome-related coronavirus http://purl.obolibrary.org/obo/MIM_145600 susceptibility to malignant hyperthermia 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_34607 Amblyomma cajennense http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/MIM_146500 susceptibility to multiple system atrophy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_34608 Amblyomma hebraeum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/NCBITaxon_34609 Amblyomma maculatum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/NCBITaxon_34610 Amblyomma variegatum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/MIM_148000 susceptibility to kaposi sarcoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6943 Amblyomma americanum http://purl.obolibrary.org/obo/NCBITaxon_6942 Amblyomma http://purl.obolibrary.org/obo/MIM_155600 susceptibility to cutaneous malignant melanoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_83136 Trombidiformes http://purl.obolibrary.org/obo/NCBITaxon_6946 Acariformes http://purl.obolibrary.org/obo/MIM_155601 susceptibility to cutaneous malignant melanoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_83138 Anystina http://purl.obolibrary.org/obo/NCBITaxon_6947 Prostigmata http://purl.obolibrary.org/obo/MIM_165720 osteoarthritis susceptibility 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_166760 susceptibility to otitis media http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_784 Orientia tsutsugamushi http://purl.obolibrary.org/obo/NCBITaxon_69474 Orientia http://purl.obolibrary.org/obo/MIM_181000 susceptibility to sarcoidosis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_50557 Insecta http://purl.obolibrary.org/obo/NCBITaxon_6960 Hexapoda http://purl.obolibrary.org/obo/MIM_181800 susceptibility to isolated scoliosis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_713 Actinobacillus http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/MIM_182940 susceptibility to neural tube defects http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_724 Haemophilus http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/MIM_185100 susceptibility to strabismus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_745 Pasteurella http://purl.obolibrary.org/obo/NCBITaxon_712 Pasteurellaceae http://purl.obolibrary.org/obo/MIM_188890 susceptibility to tobacco addiction http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_212750 susceptibility to celiac disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_215400 susceptibility to chordoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3650 Cucurbitaceae http://purl.obolibrary.org/obo/NCBITaxon_71239 Cucurbitales http://purl.obolibrary.org/obo/NCBITaxon_91827 Gunneridae http://purl.obolibrary.org/obo/NCBITaxon_71240 eudicotyledons http://purl.obolibrary.org/obo/MIM_226400 susceptibility to epidermodysplasia verruciformis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_235400 susceptibility to atypical hemolytic uremic syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_91888 lamiids http://purl.obolibrary.org/obo/NCBITaxon_71274 asterids http://purl.obolibrary.org/obo/MIM_245300 susceptibility to kuru http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/NCBITaxon_71275 rosids http://purl.obolibrary.org/obo/NCBITaxon_91836 malvids http://purl.obolibrary.org/obo/NCBITaxon_71275 rosids http://purl.obolibrary.org/obo/NCBITaxon_7148 Nematocera http://purl.obolibrary.org/obo/NCBITaxon_7147 Diptera http://purl.obolibrary.org/obo/MIM_246300 susceptibility to leprosy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_7203 Brachycera http://purl.obolibrary.org/obo/NCBITaxon_7147 Diptera http://purl.obolibrary.org/obo/MIM_256700 susceptibility to neuroblastoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_258660 susceptibility to nonarteritic anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300125 susceptibility to migraine with or without aura 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300351 susceptibility to Graves disease X-linked 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_43786 Culicomorpha http://purl.obolibrary.org/obo/NCBITaxon_7148 Nematocera http://purl.obolibrary.org/obo/MIM_300425 susceptibility to X-linked autism 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_43787 Psychodomorpha http://purl.obolibrary.org/obo/NCBITaxon_7148 Nematocera http://purl.obolibrary.org/obo/MIM_300494 susceptibility to X-linked asperger syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300495 susceptibility to X-linked autism 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_28556 Pleosporaceae http://purl.obolibrary.org/obo/NCBITaxon_715340 Pleosporineae http://purl.obolibrary.org/obo/NCBITaxon_43816 Anophelinae http://purl.obolibrary.org/obo/NCBITaxon_7157 Culicidae http://purl.obolibrary.org/obo/MIM_300496 susceptibility to X-linked autism 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_43817 Culicinae http://purl.obolibrary.org/obo/NCBITaxon_7157 Culicidae http://purl.obolibrary.org/obo/MIM_300497 susceptibility to X-linked asperger syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_147541 Dothideomycetes http://purl.obolibrary.org/obo/NCBITaxon_715962 dothideomyceta http://purl.obolibrary.org/obo/MIM_300830 susceptibility to X-linked autism 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300847 susceptibility to X-linked autism 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_147550 Sordariomycetes http://purl.obolibrary.org/obo/NCBITaxon_715989 sordariomyceta http://purl.obolibrary.org/obo/MIM_300872 susceptibility to X-linked autism 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_147537 Saccharomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/MIM_300909 susceptibility to angioedema induced by ace inhibitors http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_147538 Pezizomycotina http://purl.obolibrary.org/obo/NCBITaxon_716545 saccharomyceta http://purl.obolibrary.org/obo/NCBITaxon_147545 Eurotiomycetes http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/MIM_309200 major affective disorder 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_715962 dothideomyceta http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/MIM_600155 susceptibility to hirschsprung disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_715989 sordariomyceta http://purl.obolibrary.org/obo/NCBITaxon_716546 leotiomyceta http://purl.obolibrary.org/obo/MIM_600807 susceptibility to asthma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_7198 Phlebotominae http://purl.obolibrary.org/obo/NCBITaxon_7197 Psychodidae http://purl.obolibrary.org/obo/MIM_601744 susceptibility to systemic lupus erythematosus 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_13203 Phlebotomus http://purl.obolibrary.org/obo/NCBITaxon_7198 Phlebotominae http://purl.obolibrary.org/obo/MIM_601887 susceptibility to malignant hyperthermia 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_43733 Muscomorpha http://purl.obolibrary.org/obo/NCBITaxon_7203 Brachycera http://purl.obolibrary.org/obo/NCBITaxon_43735 Tabanomorpha http://purl.obolibrary.org/obo/NCBITaxon_7203 Brachycera http://purl.obolibrary.org/obo/MIM_603388 susceptibility to Graves disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3701045 Stomatocarida http://purl.obolibrary.org/obo/NCBITaxon_72041 Eumalacostraca http://purl.obolibrary.org/obo/MIM_604370 susceptibility to familial breast-ovarian cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_43920 Chrysopsinae http://purl.obolibrary.org/obo/NCBITaxon_7205 Tabanidae http://purl.obolibrary.org/obo/MIM_605218 susceptibility to systemic lupus erythematosus 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_157914 Ziziphus mauritiana http://purl.obolibrary.org/obo/NCBITaxon_72171 Ziziphus http://purl.obolibrary.org/obo/NCBITaxon_3754 Prunus http://purl.obolibrary.org/obo/NCBITaxon_721805 Amygdaleae http://purl.obolibrary.org/obo/MIM_605462 susceptibility to basal cell carcinoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3749 Malus http://purl.obolibrary.org/obo/NCBITaxon_721813 Maleae http://purl.obolibrary.org/obo/MIM_605990 susceptibility to uric acid nephrolithiasis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_34064 Francisellaceae http://purl.obolibrary.org/obo/NCBITaxon_72273 Thiotrichales http://purl.obolibrary.org/obo/MIM_606217 susceptibility to atrioventricular septal defect 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_194 Campylobacter http://purl.obolibrary.org/obo/NCBITaxon_72294 Campylobacteraceae http://purl.obolibrary.org/obo/MIM_606581 susceptibility to polysubstance abuse http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606657 susceptibility to normal tension glaucoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_730 [Haemophilus] ducreyi http://purl.obolibrary.org/obo/NCBITaxon_724 Haemophilus http://purl.obolibrary.org/obo/NCBITaxon_747 Pasteurella multocida http://purl.obolibrary.org/obo/NCBITaxon_745 Pasteurella http://purl.obolibrary.org/obo/NCBITaxon_33340 Neoptera http://purl.obolibrary.org/obo/NCBITaxon_7496 Pterygota http://purl.obolibrary.org/obo/NCBITaxon_140693 Pulicomorpha http://purl.obolibrary.org/obo/NCBITaxon_7509 Siphonaptera http://purl.obolibrary.org/obo/NCBITaxon_476427 Xenopsyllinae http://purl.obolibrary.org/obo/NCBITaxon_7511 Pulicidae http://purl.obolibrary.org/obo/NCBITaxon_423054 Eimeriorina http://purl.obolibrary.org/obo/NCBITaxon_75739 Eucoccidiorida http://purl.obolibrary.org/obo/NCBITaxon_775 Rickettsiaceae http://purl.obolibrary.org/obo/NCBITaxon_766 Rickettsiales http://purl.obolibrary.org/obo/MIM_606788 susceptibility to anorexia nervosa http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_942 Anaplasmataceae http://purl.obolibrary.org/obo/NCBITaxon_766 Rickettsiales http://purl.obolibrary.org/obo/MIM_606798 susceptibility to benign essential blepharospasm http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_106179 phagocytophilum group http://purl.obolibrary.org/obo/NCBITaxon_768 Anaplasma http://purl.obolibrary.org/obo/NCBITaxon_2499399 Cornidovirineae http://purl.obolibrary.org/obo/NCBITaxon_76804 Nidovirales http://purl.obolibrary.org/obo/MIM_606856 susceptibility to pancreatic cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/NCBITaxon_7711 Chordata http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/NCBITaxon_772 Bartonellaceae http://purl.obolibrary.org/obo/MIM_607174 susceptibility to familial meningioma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_38323 Bartonella henselae http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/MIM_607248 glioma susceptibility 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_56426 Bartonella clarridgeiae http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/MIM_607354 susceptibility to isolated scoliosis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_774 Bartonella bacilliformis http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/MIM_607373 susceptibility to autism 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_803 Bartonella quintana http://purl.obolibrary.org/obo/NCBITaxon_773 Bartonella http://purl.obolibrary.org/obo/MIM_607499 susceptibility to bulimia nervosa http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/MIM_607507 psoriatic arthritis susceptibility http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_33988 Rickettsieae http://purl.obolibrary.org/obo/NCBITaxon_775 Rickettsiaceae http://purl.obolibrary.org/obo/MIM_607516 susceptibility to migraine with or without aura 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_777 Coxiella burnetii http://purl.obolibrary.org/obo/NCBITaxon_776 Coxiella http://purl.obolibrary.org/obo/MIM_607688 susceptibility to autosomal dominant parkinson disease 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_117570 Teleostomi http://purl.obolibrary.org/obo/NCBITaxon_7776 Gnathostomata http://purl.obolibrary.org/obo/NCBITaxon_241806 Polypodiopsida http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/MIM_607832 susceptibility to focal segmental glomerulosclerosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607836 susceptibility to autoimmune disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607850 osteoarthritis susceptibility 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608049 susceptibility to autism 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608446 susceptibility to myocardial infarction http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_58024 Spermatophyta http://purl.obolibrary.org/obo/NCBITaxon_78536 Euphyllophyta http://purl.obolibrary.org/obo/MIM_608556 susceptibility to legionnaire disease http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608709 susceptibility to partial acquired lipodystrophy http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_186623 Actinopteri http://purl.obolibrary.org/obo/NCBITaxon_7898 Actinopterygii http://purl.obolibrary.org/obo/MIM_608765 susceptibility to isolated scoliosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_30727 Cyprinoidei http://purl.obolibrary.org/obo/NCBITaxon_7952 Cypriniformes http://purl.obolibrary.org/obo/NCBITaxon_2743694 Cyprininae http://purl.obolibrary.org/obo/NCBITaxon_7953 Cyprinidae http://purl.obolibrary.org/obo/NCBITaxon_7955 Danio rerio http://purl.obolibrary.org/obo/NCBITaxon_7954 Danio http://purl.obolibrary.org/obo/MIM_608812 susceptibility to colorectal cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_7962 Cyprinus carpio http://purl.obolibrary.org/obo/NCBITaxon_7961 Cyprinus http://purl.obolibrary.org/obo/MIM_608831 susceptibility to restless legs syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_8015 Salmonidae http://purl.obolibrary.org/obo/NCBITaxon_8006 Salmoniformes http://purl.obolibrary.org/obo/MIM_608864 susceptibility to orofacial cleft 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_504568 Salmoninae http://purl.obolibrary.org/obo/NCBITaxon_8015 Salmonidae http://purl.obolibrary.org/obo/MIM_608901 susceptibility to coronary heart disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_8022 Oncorhynchus mykiss http://purl.obolibrary.org/obo/NCBITaxon_8016 Oncorhynchus http://purl.obolibrary.org/obo/MIM_609048 susceptibility to cutaneous malignant melanoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_8030 Salmo salar http://purl.obolibrary.org/obo/NCBITaxon_8028 Salmo http://purl.obolibrary.org/obo/MIM_609148 susceptibility to mild malaria http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1489845 Gadoidei http://purl.obolibrary.org/obo/NCBITaxon_8043 Gadiformes http://purl.obolibrary.org/obo/MIM_609378 susceptibility to autism 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_8048 Gadus http://purl.obolibrary.org/obo/NCBITaxon_8045 Gadidae http://purl.obolibrary.org/obo/MIM_609423 susceptibility to human immunodeficiency virus type 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_8049 Gadus morhua http://purl.obolibrary.org/obo/NCBITaxon_8048 Gadus http://purl.obolibrary.org/obo/MIM_609532 susceptibility to hepatitis C virus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_119060 Burkholderiaceae http://purl.obolibrary.org/obo/NCBITaxon_80840 Burkholderiales http://purl.obolibrary.org/obo/MIM_609633 major affective disorder 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_506 Alcaligenaceae http://purl.obolibrary.org/obo/NCBITaxon_80840 Burkholderiales http://purl.obolibrary.org/obo/MIM_609753 susceptibility to celiac disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1113537 Chlamydia/Chlamydophila group http://purl.obolibrary.org/obo/NCBITaxon_809 Chlamydiaceae http://purl.obolibrary.org/obo/MIM_609755 susceptibility to celiac disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_813 Chlamydia trachomatis http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/MIM_610297 susceptibility to autosomal dominant parkinson disease 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610438 susceptibility to restless legs syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_83558 Chlamydia pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/MIM_610439 susceptibility to restless legs syndrome 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_83554 Chlamydia psittaci http://purl.obolibrary.org/obo/NCBITaxon_810 Chlamydia http://purl.obolibrary.org/obo/MIM_610676 susceptibility to autism 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_89940 Cladophialophora bantiana http://purl.obolibrary.org/obo/NCBITaxon_82105 Cladophialophora http://purl.obolibrary.org/obo/MIM_610836 susceptibility to autism 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_86049 Cladophialophora carrionii http://purl.obolibrary.org/obo/NCBITaxon_82105 Cladophialophora http://purl.obolibrary.org/obo/NCBITaxon_1338369 Dipnotetrapodomorpha http://purl.obolibrary.org/obo/NCBITaxon_8287 Sarcopterygii http://purl.obolibrary.org/obo/MIM_610839 osteoarthritis susceptibility 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6947 Prostigmata http://purl.obolibrary.org/obo/NCBITaxon_83136 Trombidiformes http://purl.obolibrary.org/obo/MIM_610908 susceptibility to autism 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_83141 Parasitengona http://purl.obolibrary.org/obo/NCBITaxon_83138 Anystina http://purl.obolibrary.org/obo/MIM_610927 susceptibility to systemic lupus erythematosus 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_92088 Trombiculoidea http://purl.obolibrary.org/obo/NCBITaxon_83141 Parasitengona http://purl.obolibrary.org/obo/NCBITaxon_32561 Sauria http://purl.obolibrary.org/obo/NCBITaxon_8457 Sauropsida http://purl.obolibrary.org/obo/MIM_610938 susceptibility to coronary heart disease 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_436486 Dinosauria http://purl.obolibrary.org/obo/NCBITaxon_8492 Archosauria http://purl.obolibrary.org/obo/MIM_610988 susceptibility to leprosy 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1653 Corynebacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/MIM_611015 susceptibility to autism 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1762 Mycobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/MIM_611016 susceptibility to autism 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_85025 Nocardiaceae http://purl.obolibrary.org/obo/NCBITaxon_85007 Mycobacteriales http://purl.obolibrary.org/obo/NCBITaxon_31957 Propionibacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_85009 Propionibacteriales http://purl.obolibrary.org/obo/MIM_611162 susceptibility to malaria http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1817 Nocardia http://purl.obolibrary.org/obo/NCBITaxon_85025 Nocardiaceae http://purl.obolibrary.org/obo/MIM_611185 susceptibility to restless legs syndrome 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_7496 Pterygota http://purl.obolibrary.org/obo/NCBITaxon_85512 Dicondylia http://purl.obolibrary.org/obo/MIM_611242 susceptibility to restless legs syndrome 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_30005 Anoplura http://purl.obolibrary.org/obo/NCBITaxon_85819 Phthiraptera http://purl.obolibrary.org/obo/MIM_611247 major affective disorder 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_10090 Mus musculus http://purl.obolibrary.org/obo/NCBITaxon_862507 Mus http://purl.obolibrary.org/obo/MIM_611469 susceptibility to colorectal cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611535 major affective disorder 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1392 Bacillus anthracis http://purl.obolibrary.org/obo/NCBITaxon_86661 Bacillus cereus group http://purl.obolibrary.org/obo/MIM_611536 major affective disorder 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_8825 Neognathae http://purl.obolibrary.org/obo/NCBITaxon_8782 Aves http://purl.obolibrary.org/obo/MIM_611942 susceptibility to childhood absence epilepsy 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1549675 Galloanserae http://purl.obolibrary.org/obo/NCBITaxon_8825 Neognathae http://purl.obolibrary.org/obo/MIM_612100 susceptibility to autism 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612229 susceptibility to colorectal cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612230 susceptibility to colorectal cancer 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_6656 Arthropoda http://purl.obolibrary.org/obo/NCBITaxon_88770 Panarthropoda http://purl.obolibrary.org/obo/MIM_612231 susceptibility to colorectal cancer 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612232 susceptibility to colorectal cancer 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_7742 Vertebrata http://purl.obolibrary.org/obo/NCBITaxon_89593 Craniata http://purl.obolibrary.org/obo/MIM_612238 susceptibility to isolated scoliosis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_9005 Phasianidae http://purl.obolibrary.org/obo/NCBITaxon_8976 Galliformes http://purl.obolibrary.org/obo/MIM_612239 susceptibility to isolated scoliosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_12066 Coxsackievirus http://purl.obolibrary.org/obo/NCBITaxon_90010 unclassified Enterovirus http://purl.obolibrary.org/obo/MIM_612251 susceptibility to systemic lupus erythematosus 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_33758 Echovirus http://purl.obolibrary.org/obo/NCBITaxon_90010 unclassified Enterovirus http://purl.obolibrary.org/obo/MIM_612253 susceptibility to systemic lupus erythematosus 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_9072 Phasianinae http://purl.obolibrary.org/obo/NCBITaxon_9005 Phasianidae http://purl.obolibrary.org/obo/MIM_612269 susceptibility to childhood absence epilepsy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_9031 Gallus gallus http://purl.obolibrary.org/obo/NCBITaxon_9030 Gallus http://purl.obolibrary.org/obo/MIM_612357 major affective disorder 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_9030 Gallus http://purl.obolibrary.org/obo/NCBITaxon_9072 Phasianinae http://purl.obolibrary.org/obo/MIM_612371 major affective disorder 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1279 Staphylococcus http://purl.obolibrary.org/obo/NCBITaxon_90964 Staphylococcaceae http://purl.obolibrary.org/obo/MIM_612372 major affective disorder 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1385 Caryophanales http://purl.obolibrary.org/obo/NCBITaxon_91061 Bacilli http://purl.obolibrary.org/obo/MIM_612387 susceptibility to sarcoidosis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_186826 Lactobacillales http://purl.obolibrary.org/obo/NCBITaxon_91061 Bacilli http://purl.obolibrary.org/obo/MIM_612388 susceptibility to sarcoidosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_543 Enterobacteriaceae http://purl.obolibrary.org/obo/NCBITaxon_91347 Enterobacterales http://purl.obolibrary.org/obo/MIM_612400 osteoarthritis susceptibility 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1903411 Yersiniaceae http://purl.obolibrary.org/obo/NCBITaxon_91347 Enterobacterales http://purl.obolibrary.org/obo/MIM_612401 osteoarthritis susceptibility 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_9845 Ruminantia http://purl.obolibrary.org/obo/NCBITaxon_91561 Artiodactyla http://purl.obolibrary.org/obo/MIM_612551 susceptibility to focal segmental glomerulosclerosis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1437201 Pentapetalae http://purl.obolibrary.org/obo/NCBITaxon_91827 Gunneridae http://purl.obolibrary.org/obo/MIM_612555 susceptibility to familial breast-ovarian cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3744 Rosales http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/MIM_612589 susceptibility to colorectal cancer 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_71239 Cucurbitales http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/MIM_612590 susceptibility to colorectal cancer 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_3646 Malpighiales http://purl.obolibrary.org/obo/NCBITaxon_91835 fabids http://purl.obolibrary.org/obo/MIM_612591 susceptibility to colorectal cancer 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_41937 Sapindales http://purl.obolibrary.org/obo/NCBITaxon_91836 malvids http://purl.obolibrary.org/obo/MIM_612592 susceptibility to colorectal cancer 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_4069 Solanales http://purl.obolibrary.org/obo/NCBITaxon_91888 lamiids http://purl.obolibrary.org/obo/MIM_612853 susceptibility to restless legs syndrome 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_92251 Trombiculidae http://purl.obolibrary.org/obo/NCBITaxon_92088 Trombiculoidea http://purl.obolibrary.org/obo/NCBITaxon_279271 Leptotrombidium http://purl.obolibrary.org/obo/NCBITaxon_92251 Trombiculidae http://purl.obolibrary.org/obo/MIM_612922 susceptibility to atypical hemolytic uremic syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612923 susceptibility to atypical hemolytic uremic syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_715340 Pleosporineae http://purl.obolibrary.org/obo/NCBITaxon_92860 Pleosporales http://purl.obolibrary.org/obo/NCBITaxon_1437010 Boreoeutheria http://purl.obolibrary.org/obo/NCBITaxon_9347 Eutheria http://purl.obolibrary.org/obo/NCBITaxon_768 Anaplasma http://purl.obolibrary.org/obo/NCBITaxon_942 Anaplasmataceae http://purl.obolibrary.org/obo/MIM_612924 susceptibility to atypical hemolytic uremic syndrome 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_943 Ehrlichia http://purl.obolibrary.org/obo/NCBITaxon_942 Anaplasmataceae http://purl.obolibrary.org/obo/MIM_612925 susceptibility to atypical hemolytic uremic syndrome 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_106178 canis group http://purl.obolibrary.org/obo/NCBITaxon_943 Ehrlichia http://purl.obolibrary.org/obo/MIM_612926 susceptibility to atypical hemolytic uremic syndrome 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_35500 Pecora http://purl.obolibrary.org/obo/NCBITaxon_9845 Ruminantia http://purl.obolibrary.org/obo/MIM_613003 susceptibility to attention deficit-hyperactivity disorder 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_27592 Bovinae http://purl.obolibrary.org/obo/NCBITaxon_9895 Bovidae http://purl.obolibrary.org/obo/MIM_613013 susceptibility to neuroblastoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_9963 Caprinae http://purl.obolibrary.org/obo/NCBITaxon_9895 Bovidae http://purl.obolibrary.org/obo/MIM_613014 susceptibility to neuroblastoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_9913 Bos taurus http://purl.obolibrary.org/obo/NCBITaxon_9903 Bos http://purl.obolibrary.org/obo/MIM_613015 susceptibility to neuroblastoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_9925 Capra hircus http://purl.obolibrary.org/obo/NCBITaxon_9922 Capra http://purl.obolibrary.org/obo/MIM_613016 susceptibility to neuroblastoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_9922 Capra http://purl.obolibrary.org/obo/NCBITaxon_9963 Caprinae http://purl.obolibrary.org/obo/MIM_613024 susceptibility to follicular lymphoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/NCBITaxon_9989 Rodentia http://purl.obolibrary.org/obo/MIM_613028 glioma susceptibility 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613029 glioma susceptibility 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001301 epididymis http://purl.obolibrary.org/obo/UBERON_0005904 duct of male reproductive system http://purl.obolibrary.org/obo/MIM_613030 glioma susceptibility 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002394 bile duct http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/MIM_613031 glioma susceptibility 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/MIM_613032 glioma susceptibility 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613033 glioma susceptibility 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/MIM_613058 susceptibility to basal cell carcinoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/MIM_613059 susceptibility to basal cell carcinoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000977 pleura http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/MIM_613061 susceptibility to basal cell carcinoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002358 peritoneum http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/MIM_613062 susceptibility to basal cell carcinoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001297 serosa of uterus http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/MIM_613063 susceptibility to basal cell carcinoma 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002095 mesentery http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/MIM_613067 susceptibility to acute lymphoblastic leukemia 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001714 cranial ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/MIM_613099 susceptibility to cutaneous malignant melanoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001800 sensory ganglion http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/MIM_613223 susceptibility to leprosy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/MIM_613347 susceptibility to pancreatic cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/MIM_613348 susceptibility to pancreatic cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613399 susceptibility to familial breast-ovarian cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001765 mammary duct http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/MIM_613410 susceptibility to autism 16 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003928 digestive system duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0005904 duct of male reproductive system http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0006553 renal duct http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/MIM_613436 susceptibility to autism 17 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001811 conjunctiva http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/MIM_613551 susceptibility to autoimmune disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0016435 chest wall http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/MIM_613643 susceptibility to autosomal dominant parkinson disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613656 susceptibility to migraine with or without aura 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0000467 anatomical system http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0000045 ganglion http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_613711 susceptibility to hirschsprung disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003037 septum http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_613712 susceptibility to hirschsprung disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_613972 susceptibility to cutaneous malignant melanoma 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_614079 susceptibility to aspergillosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_614090 susceptibility to sick sinus syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_614251 susceptibility to autosomal dominant parkinson disease 18 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_614291 susceptibility to familial breast-ovarian cancer 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_614320 susceptibility to pancreatic cancer 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_614371 susceptibility to dengue virus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_614456 susceptibility to cutaneous malignant melanoma 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_614466 susceptibility to coronary heart disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/MIM_614680 susceptibility to severe influenza http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614740 susceptibility to basal cell carcinoma 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_614810 susceptibility to multiple sclerosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_615083 susceptibility to colorectal cancer 12 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/MIM_615091 susceptibility to autism 19 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0000020 sense organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_615134 susceptibility to cutaneous malignant melanoma 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0000955 brain http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/MIM_615197 susceptibility to restless legs syndrome 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0000997 mammalian vulva http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/MIM_615371 susceptibility to neonatal pulmonary hypertension http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001043 esophagus http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/MIM_615529 susceptibility to craniosynostosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003133 reproductive organ http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0005057 immune organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0000094 membrane organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_615545 susceptibility to acute lymphoblastic leukemia 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0000171 respiration organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_615557 susceptibility to melioidosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_615848 obsolete susceptibility to cutaneous malignant melanoma 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure http://purl.obolibrary.org/obo/MIM_616106 pustular psoriasis susceptibility 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002075 viscus http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/MIM_616818 susceptibility to IgA nephropathy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_616871 susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002097 skin of body http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/MIM_617075 susceptibility to nasopharyngeal carcinoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_617349 susceptibility to familial thoracic aortic aneurysm 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_617892 susceptibility to amyotrophic lateral sclerosis 24 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004177 hemopoietic organ http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_617921 susceptibility to amyotrophic lateral sclerosis 25 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_618231 susceptibility to epidermodysplasia verruciformis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_618267 susceptibility to epidermodysplasia verruciformis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_618307 obsolete susceptibility to epidermodysplasia verruciformis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/MIM_618309 obsolete susceptibility to epidermodysplasia verruciformis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/MIM_300464 susceptibility to coronary heart disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0005174 dorsal region element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_300509 susceptibility to dyslexia 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_600131 susceptibility to childhood absence epilepsy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0005178 thoracic cavity element http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/MIM_600156 susceptibility to hirschsprung disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0005179 pelvic region element http://purl.obolibrary.org/obo/UBERON_0005173 abdominal segment element http://purl.obolibrary.org/obo/MIM_600202 susceptibility to dyslexia 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/UBERON_0005177 trunk region element http://purl.obolibrary.org/obo/UBERON_0010001 cell cluster organ http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/MIM_602477 susceptibility to idiopathic generalized epilepsy 17 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/MIM_603918 susceptibility to essential hypertension 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0035651 glans http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0000058 duct http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/MIM_604254 susceptibility to dyslexia 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001257 trigone of urinary bladder http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MIM_604329 susceptibility to essential hypertension 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_604827 susceptibility to idiopathic generalized epilepsy 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001711 eyelid http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0000060 anatomical wall http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MIM_606616 susceptibility to dyslexia 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0000063 organ subunit http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MIM_606874 susceptibility to hirschsprung disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/MIM_606875 susceptibility to hirschsprung disease 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001851 cortex http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0001862 vestibular labyrinth http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MIM_606896 susceptibility to dyslexia 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606972 susceptibility to idiopathic generalized epilepsy 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003215 alveolus http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MIM_607329 susceptibility to essential hypertension 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MIM_607339 susceptibility to coronary heart disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MIM_607628 susceptibility to idiopathic generalized epilepsy 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MIM_607682 susceptibility to idiopathic generalized epilepsy 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MIM_608035 susceptibility to cutaneous malignant melanoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0016526 lobe of cerebral hemisphere http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MIM_608316 susceptibility to coronary heart disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0022275 colic flexure http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/MIM_608318 susceptibility to coronary heart disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608462 susceptibility to hirschsprung disease 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001558 lower respiratory tract http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/MIM_608742 susceptibility to essential hypertension 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001737 larynx http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/MIM_608762 susceptibility to idiopathic generalized epilepsy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/MIM_608995 susceptibility to dyslexia 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001130 vertebral column http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/MIM_609750 susceptibility to idiopathic generalized epilepsy 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001270 bony pelvis http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/MIM_610261 susceptibility to essential hypertension 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610262 susceptibility to essential hypertension 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0013118 sulcus of brain http://purl.obolibrary.org/obo/UBERON_0000093 sulcus http://purl.obolibrary.org/obo/UBERON_0002360 meninx http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/MIM_610948 susceptibility to essential hypertension 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002185 bronchus http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/MIM_611014 susceptibility to essential hypertension 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0003126 trachea http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/MIM_611136 susceptibility to idiopathic generalized epilepsy 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002186 bronchiole http://purl.obolibrary.org/obo/UBERON_0000117 respiratory tube http://purl.obolibrary.org/obo/MIM_611139 susceptibility to coronary heart disease 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002076 cuticle of hair http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/MIM_611644 susceptibility to hirschsprung disease 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/MIM_611934 susceptibility to idiopathic generalized epilepsy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/MIM_612030 susceptibility to coronary heart disease 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002211 nerve root http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/MIM_612263 susceptibility to cutaneous malignant melanoma 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0004904 neuron projection bundle connecting eye with brain http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/MIM_612899 susceptibility to idiopathic generalized epilepsy 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/MIM_613060 susceptibility to idiopathic generalized epilepsy 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614847 susceptibility to idiopathic generalized epilepsy 12 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/MIM_616685 susceptibility to idiopathic generalized epilepsy 14 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001245 anus http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/MIM_618357 susceptibility to idiopathic generalized epilepsy 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0012303 ureteral orifice http://purl.obolibrary.org/obo/UBERON_0010418 urethral opening http://purl.obolibrary.org/obo/MIM_618596 susceptibility to idiopathic generalized epilepsy 16 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0010418 urethral opening http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/MIM_619521 susceptibility to idiopathic generalized epilepsy 18 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001158 descending colon http://purl.obolibrary.org/obo/UBERON_0000168 proximal-distal subdivision of colon http://purl.obolibrary.org/obo/MIM_620442 susceptibility to familial breast-ovarian cancer 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0001159 sigmoid colon http://purl.obolibrary.org/obo/UBERON_0000168 proximal-distal subdivision of colon http://purl.obolibrary.org/obo/MIM_621064 susceptibility to idiopathic generalized epilepsy 19 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/UBERON_0002048 lung http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/NCBITaxon_10255 Variola virus http://purl.obolibrary.org/obo/NCBITaxon_3431487 Orthopoxvirus variola http://purl.obolibrary.org/obo/UBERON_0000178 blood http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/NCBITaxon_108098 Human mastadenovirus B http://purl.obolibrary.org/obo/NCBITaxon_3241406 Mastadenovirus blackbeardi http://purl.obolibrary.org/obo/UBERON_0002391 lymph http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/HP_0003125 Reduced factor VIII activity http://purl.obolibrary.org/obo/HP_0030976 Abnormal factor VIII activity http://purl.obolibrary.org/obo/UBERON_0012332 broad ligament of uterus http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/UBERON_0008845 nonskeletal ligament http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/NCBITaxon_10404 Hepadnaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732515 Blubervirales http://purl.obolibrary.org/obo/UBERON_0008846 skeletal ligament http://purl.obolibrary.org/obo/UBERON_0000211 ligament http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/UBERON_0015214 arcuate ligament http://purl.obolibrary.org/obo/UBERON_0005181 thoracic segment organ http://purl.obolibrary.org/obo/NCBITaxon_2732515 Blubervirales http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/UBERON_0036262 uterine ligament http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/NCBITaxon_2743711 Danioninae http://purl.obolibrary.org/obo/NCBITaxon_2743709 Danionidae http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/UBERON_0001295 endometrium http://purl.obolibrary.org/obo/UBERON_0019042 reproductive system mucosa http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/UBERON_0001826 nasal cavity mucosa http://purl.obolibrary.org/obo/UBERON_0004785 respiratory system mucosa http://purl.obolibrary.org/obo/SO_0002315 increased_gene_product_level http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/UBERON_0003729 mouth mucosa http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004785 respiratory system mucosa http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/SO_0002316 decreased_gene_product_level http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/UBERON_0004983 mucosa of vagina http://purl.obolibrary.org/obo/UBERON_0019042 reproductive system mucosa http://purl.obolibrary.org/obo/UBERON_0019042 reproductive system mucosa http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/NCBITaxon_10240 Poxviridae http://purl.obolibrary.org/obo/NCBITaxon_2732527 Chitovirales http://purl.obolibrary.org/obo/UBERON_0008230 tibialis http://purl.obolibrary.org/obo/UBERON_0004256 hindlimb zeugopod muscle http://purl.obolibrary.org/obo/NCBITaxon_10780 Parvoviridae http://purl.obolibrary.org/obo/NCBITaxon_2732534 Piccovirales http://purl.obolibrary.org/obo/UBERON_0001831 parotid gland http://purl.obolibrary.org/obo/UBERON_0012102 buccal salivary gland http://purl.obolibrary.org/obo/NCBITaxon_37727 Talaromyces marneffei http://purl.obolibrary.org/obo/NCBITaxon_2752537 Talaromyces sect. Talaromyces http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/UBERON_0006312 ocular refractive media http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/UBERON_0006314 bodily fluid http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/NCBITaxon_2732405 Duplornaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/UBERON_0000167 oral cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/UBERON_0003691 epidural space http://purl.obolibrary.org/obo/UBERON_0010276 space in vertebral column http://purl.obolibrary.org/obo/NCBITaxon_2732408 Pisuviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/UBERON_0003693 retroperitoneal space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/NCBITaxon_11018 Togaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732544 Martellivirales http://purl.obolibrary.org/obo/UBERON_0000093 sulcus http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/NCBITaxon_11050 Flaviviridae http://purl.obolibrary.org/obo/NCBITaxon_2732545 Amarillovirales http://purl.obolibrary.org/obo/UBERON_0002224 thoracic cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/NCBITaxon_7961 Cyprinus http://purl.obolibrary.org/obo/NCBITaxon_2743694 Cyprininae http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/NCBITaxon_3079366 Hepeviridae http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/UBERON_0010276 space in vertebral column http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/NCBITaxon_2560066 Matonaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/UBERON_0014930 perivascular space http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/NCBITaxon_12908 unclassified sequences http://purl.obolibrary.org/obo/NCBITaxon_2787823 unclassified entries http://purl.obolibrary.org/obo/UBERON_0000061 anatomical structure http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732532 Sepolyvirales http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/NCBITaxon_151340 Papillomaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732533 Zurhausenvirales http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/NCBITaxon_7954 Danio http://purl.obolibrary.org/obo/NCBITaxon_2743711 Danioninae http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/NCBITaxon_2731360 Heunggongvirae http://purl.obolibrary.org/obo/NCBITaxon_2731341 Duplodnaviria http://purl.obolibrary.org/obo/UBERON_0000464 anatomical space http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/NCBITaxon_2732092 Shotokuvirae http://purl.obolibrary.org/obo/NCBITaxon_2731342 Floreoviria http://purl.obolibrary.org/obo/UBERON_0000016 endocrine pancreas http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/NCBITaxon_2731361 Peploviricota http://purl.obolibrary.org/obo/NCBITaxon_2731360 Heunggongvirae http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/NCBITaxon_2731363 Herviviricetes http://purl.obolibrary.org/obo/NCBITaxon_2731361 Peploviricota http://purl.obolibrary.org/obo/UBERON_0002101 limb http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin http://purl.obolibrary.org/obo/NCBITaxon_548681 Herpesvirales http://purl.obolibrary.org/obo/NCBITaxon_2731363 Herviviricetes http://purl.obolibrary.org/obo/UBERON_0000026 appendage http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/NCBITaxon_2732004 Varidnaviria http://purl.obolibrary.org/obo/UBERON_0001444 subdivision of head http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCBITaxon_2732007 Nucleocytoviricota http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/UBERON_0001464 hip http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCBITaxon_2732008 Preplasmiviricota http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCBITaxon_2732525 Pokkesviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732007 Nucleocytoviricota http://purl.obolibrary.org/obo/UBERON_0008337 inguinal part of abdomen http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCBITaxon_3412694 Polisuviricotina http://purl.obolibrary.org/obo/NCBITaxon_2732008 Preplasmiviricota http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732092 Shotokuvirae http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCBITaxon_2732409 Artverviricota http://purl.obolibrary.org/obo/NCBITaxon_2732397 Pararnavirae http://purl.obolibrary.org/obo/UBERON_0011676 subdivision of organism along main body axis http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/NCBITaxon_2732459 Resentoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732405 Duplornaviricota http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/UBERON_0002384 connective tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/NCBITaxon_2732462 Flasuviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/UBERON_0011818 superficial fascia http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732408 Pisuviricota http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732409 Artverviricota http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/UBERON_0001758 periodontium http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/NCBITaxon_2732422 Quintoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/NCBITaxon_2732532 Sepolyvirales http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/NCBITaxon_2732533 Zurhausenvirales http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/NCBITaxon_2732534 Piccovirales http://purl.obolibrary.org/obo/NCBITaxon_2732422 Quintoviricetes http://purl.obolibrary.org/obo/UBERON_0002068 urachus http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/NCBITaxon_2732541 Reovirales http://purl.obolibrary.org/obo/NCBITaxon_2732459 Resentoviricetes http://purl.obolibrary.org/obo/UBERON_0002298 brainstem http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/NCBITaxon_2732544 Martellivirales http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/UBERON_0002407 pericardium http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/UBERON_0000073 regional part of nervous system http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/NCBITaxon_2732545 Amarillovirales http://purl.obolibrary.org/obo/NCBITaxon_2732462 Flasuviricetes http://purl.obolibrary.org/obo/UBERON_0000471 compound organ component http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/NCBITaxon_464095 Picornavirales http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/UBERON_0002749 regional part of cerebellar cortex http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/NCBITaxon_76804 Nidovirales http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/UBERON_0007375 roof of mouth http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/NCBITaxon_2732527 Chitovirales http://purl.obolibrary.org/obo/NCBITaxon_2732525 Pokkesviricetes http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/UBERON_0003244 epithelium of mammary gland http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/HP_0025745 Abnormal urine amino acid level http://purl.obolibrary.org/obo/UBERON_0003843 dental epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/NCBITaxon_3052489 Orthohantavirus negraense http://purl.obolibrary.org/obo/NCBITaxon_3431295 Orthohantavirus mamorense http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/SYMP_0000375 severe abdominal cramp http://purl.obolibrary.org/obo/SYMP_0000001 abdominal cramp http://purl.obolibrary.org/obo/UBERON_0004670 ependyma http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/SYMP_0020026 chronic inflammation http://purl.obolibrary.org/obo/SYMP_0000061 inflammation http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/SYMP_0000437 earache http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium http://purl.obolibrary.org/obo/SYMP_0000202 acute painful vision loss http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium http://purl.obolibrary.org/obo/UBERON_0004119 endoderm-derived structure http://purl.obolibrary.org/obo/SYMP_0000230 body ache http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/SYMP_0020023 bone pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/UBERON_0007376 outer epithelium http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/SYMP_0000291 gas pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/UBERON_0007601 ciliated epithelium http://purl.obolibrary.org/obo/UBERON_0000483 epithelium http://purl.obolibrary.org/obo/SYMP_0000404 dyspareunia http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/SYMP_0000576 chest pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/SYMP_0000362 progressive prostration http://purl.obolibrary.org/obo/SYMP_0000116 prostration http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium http://purl.obolibrary.org/obo/SYMP_0000129 severe conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000128 conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000757 mild conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000128 conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000707 flaccid muscle tone http://purl.obolibrary.org/obo/SYMP_0000183 muscle symptom http://purl.obolibrary.org/obo/UBERON_0001136 mesothelium http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium http://purl.obolibrary.org/obo/SYMP_0000094 muscle weakness http://purl.obolibrary.org/obo/SYMP_0000183 muscle symptom http://purl.obolibrary.org/obo/UBERON_0002113 kidney http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/SYMP_0000234 cloudy cornea http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0000240 corneal opacity http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/UBERON_0002240 spinal cord http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/SYMP_0000241 corneal ulcers http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch http://purl.obolibrary.org/obo/UBERON_0005291 embryonic tissue http://purl.obolibrary.org/obo/SYMP_0000314 keratitis http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelium http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium http://purl.obolibrary.org/obo/SYMP_0000282 fixed dilated pupils http://purl.obolibrary.org/obo/SYMP_0000254 dilated pupil http://purl.obolibrary.org/obo/UBERON_0003258 endoderm of foregut http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium http://purl.obolibrary.org/obo/SYMP_0000396 mydriasis http://purl.obolibrary.org/obo/SYMP_0000254 dilated pupil http://purl.obolibrary.org/obo/SYMP_0000339 occasional diplopia http://purl.obolibrary.org/obo/SYMP_0000258 double vision http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/SYMP_0020005 acquired color vision deficiency http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/UBERON_0000925 endoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/SYMP_0020009 blind spot http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/SYMP_0000008 blindness http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/UBERON_0000119 cell layer http://purl.obolibrary.org/obo/UBERON_0000957 lamina http://purl.obolibrary.org/obo/SYMP_0000258 double vision http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/UBERON_0000362 renal medulla http://purl.obolibrary.org/obo/UBERON_0000958 medulla of organ http://purl.obolibrary.org/obo/SYMP_0000321 loss of vision http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0000628 vision distortion http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/UBERON_0001365 sacro-iliac joint http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/SYMP_0000416 amaurosis http://purl.obolibrary.org/obo/SYMP_0000321 loss of vision http://purl.obolibrary.org/obo/UBERON_0002001 joint of rib http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/SYMP_0000325 mild bronchitis http://purl.obolibrary.org/obo/SYMP_0000324 bronchitis http://purl.obolibrary.org/obo/UBERON_0002217 synovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/SYMP_0000109 mouth papules http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/UBERON_0008114 joint of girdle http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/SYMP_0000260 dry mouth http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/UBERON_0000065 respiratory tract http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/SYMP_0000330 mouth sore http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000342 slurred speech http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/UBERON_0001020 nervous system commissure http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/UBERON_0001018 axon tract http://purl.obolibrary.org/obo/SYMP_0000650 thick white exudate on tongue http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/UBERON_0011591 tract of diencephalon http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/SYMP_0000655 mouth bleeding http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/UBERON_0002473 intercerebral commissure http://purl.obolibrary.org/obo/UBERON_0019294 commissure of telencephalon http://purl.obolibrary.org/obo/SYMP_0000727 palate weakness http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000752 herpetic lesion on upper lip http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/UBERON_0005970 brain commissure http://purl.obolibrary.org/obo/UBERON_0007702 tract of brain http://purl.obolibrary.org/obo/SYMP_0000865 lesions in mouth http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/UBERON_0019294 commissure of telencephalon http://purl.obolibrary.org/obo/UBERON_0005970 brain commissure http://purl.obolibrary.org/obo/SYMP_0000877 decreased tongue tone http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/UBERON_0001322 sciatic nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0035642 laryngeal nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/SYMP_0000507 head swelling http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/UBERON_0001027 sensory nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/UBERON_0003431 leg nerve http://purl.obolibrary.org/obo/UBERON_0003442 hindlimb nerve http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/UBERON_0003440 limb nerve http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/UBERON_0003442 hindlimb nerve http://purl.obolibrary.org/obo/UBERON_0003440 limb nerve http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/UBERON_0011779 nerve of head region http://purl.obolibrary.org/obo/UBERON_0001021 nerve http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/UBERON_0000465 material anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomy http://purl.obolibrary.org/obo/SYMP_0000134 sinusitis http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/UBERON_0000466 immaterial anatomical entity http://purl.obolibrary.org/obo/UBERON_0001062 anatomy http://purl.obolibrary.org/obo/SYMP_0000664 yellow 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http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/SYMP_0000553 neurologic neglect syndrome http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/SYMP_0000124 seizure http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/UBERON_0004766 cranial bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/SYMP_0000743 blotchy red rash http://purl.obolibrary.org/obo/SYMP_0000487 rash http://purl.obolibrary.org/obo/UBERON_0004768 bone of lower jaw http://purl.obolibrary.org/obo/UBERON_0012360 bone of jaw http://purl.obolibrary.org/obo/UBERON_0005893 leg bone http://purl.obolibrary.org/obo/UBERON_0003464 hindlimb bone http://purl.obolibrary.org/obo/UBERON_0007842 membrane bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0007914 bone of craniocervical region http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0008193 pneumatized bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0008202 bone of hip region http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/SYMP_0000693 decreased facial sensation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/UBERON_0008907 dermal bone http://purl.obolibrary.org/obo/UBERON_0007842 membrane bone http://purl.obolibrary.org/obo/SYMP_0000556 localized superficial lump http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0010741 bone of pectoral complex http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/SYMP_0020020 abnormal scar formation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/UBERON_0010742 bone of pelvic complex http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex http://purl.obolibrary.org/obo/SYMP_0000017 crinkle http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0000536 disturbance of skin sensation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/SYMP_0000818 localized superficial mass http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/UBERON_0012360 bone of jaw http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/SYMP_0000184 change in skin color http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/UBERON_0013630 short bone http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/SYMP_0000130 severe headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/UBERON_0001258 neck of urinary bladder http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0003831 respiratory system muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/SYMP_0000630 frontal headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/SYMP_0000684 bifrontal headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/UBERON_0004277 eye muscle http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0001630 muscle organ http://purl.obolibrary.org/obo/SYMP_0000082 lesions in lung http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom http://purl.obolibrary.org/obo/UBERON_0001675 trigeminal ganglion http://purl.obolibrary.org/obo/UBERON_0004121 ectoderm-derived structure http://purl.obolibrary.org/obo/SYMP_0000292 heart failure http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/UBERON_0012069 epithelium-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/SYMP_0000357 postphlebitic ulcer http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/UBERON_0003830 thoracic segment muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0001813 spinal nerve plexus http://purl.obolibrary.org/obo/UBERON_0001810 nerve plexus http://purl.obolibrary.org/obo/SYMP_0000298 hoarse voice http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/UBERON_0001736 submandibular gland http://purl.obolibrary.org/obo/UBERON_0001829 major salivary gland http://purl.obolibrary.org/obo/SYMP_0000574 aphonia http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/SYMP_0000704 dysphonia http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel http://purl.obolibrary.org/obo/SYMP_0020063 blood pressure http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/UBERON_0003498 heart blood vessel http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel 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http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/SYMP_0000281 eye discharge http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/UBERON_0002049 vasculature http://purl.obolibrary.org/obo/SYMP_0000284 fixed pupil http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina http://purl.obolibrary.org/obo/SYMP_0000301 hypopyon http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/SYMP_0000310 inflamed eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0017672 abdominal viscera http://purl.obolibrary.org/obo/UBERON_0005172 abdomen element http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0010391 parametrium http://purl.obolibrary.org/obo/UBERON_0003885 mesometrium http://purl.obolibrary.org/obo/SYMP_0000338 nystagmus http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0002085 interatrial septum http://purl.obolibrary.org/obo/UBERON_0002099 cardiac septum http://purl.obolibrary.org/obo/SYMP_0000417 pupil symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0002094 interventricular septum http://purl.obolibrary.org/obo/UBERON_0002099 cardiac septum http://purl.obolibrary.org/obo/SYMP_0000446 bloodshot eye http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0005989 atrioventricular septum http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/SYMP_0000665 yellow exudate from eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0002134 tricuspid valve http://purl.obolibrary.org/obo/UBERON_0005208 right atrium valve http://purl.obolibrary.org/obo/SYMP_0000690 cranial nerve palsies http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0001776 optic choroid http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye http://purl.obolibrary.org/obo/SYMP_0000714 intraretinal hemorrhage http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0002215 synchondrosis http://purl.obolibrary.org/obo/UBERON_0002213 cartilaginous joint http://purl.obolibrary.org/obo/SYMP_0000722 moderate conjuctival injection http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0003685 cranial suture http://purl.obolibrary.org/obo/UBERON_0009198 craniofacial suture http://purl.obolibrary.org/obo/SYMP_0000767 subconjunctival bleeding http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0009198 craniofacial suture http://purl.obolibrary.org/obo/UBERON_0002209 fibrous joint http://purl.obolibrary.org/obo/SYMP_0019164 excessive tearing http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0009623 spinal nerve root http://purl.obolibrary.org/obo/UBERON_0002211 nerve root http://purl.obolibrary.org/obo/SYMP_0019165 light sensitivity http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/UBERON_0011107 synovial joint of pelvic girdle http://purl.obolibrary.org/obo/UBERON_0008114 joint of girdle http://purl.obolibrary.org/obo/SYMP_0019172 ocular lesion http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000210 photophobia http://purl.obolibrary.org/obo/SYMP_0019165 light sensitivity http://purl.obolibrary.org/obo/NCBITaxon_694002 Betacoronavirus http://purl.obolibrary.org/obo/NCBITaxon_2501931 Orthocoronavirinae http://purl.obolibrary.org/obo/UBERON_0001820 sweat gland http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/UBERON_0002107 liver http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland http://purl.obolibrary.org/obo/NCBITaxon_2560194 Orthoavulavirus http://purl.obolibrary.org/obo/NCBITaxon_2560069 Avulavirinae http://purl.obolibrary.org/obo/NCBITaxon_2560195 Orthorubulavirus http://purl.obolibrary.org/obo/NCBITaxon_2560080 Rubulavirinae http://purl.obolibrary.org/obo/UBERON_0000409 serous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/NCBITaxon_3051375 Orthoavulavirus javaense http://purl.obolibrary.org/obo/NCBITaxon_2560194 Orthoavulavirus http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/NCBITaxon_234 Brucella http://purl.obolibrary.org/obo/NCBITaxon_2826938 Brucella/Ochrobactrum group http://purl.obolibrary.org/obo/UBERON_0010047 oral gland http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/FOODON_00001046 animal seafood product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/UBERON_0010243 merocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/UBERON_0012344 holocrine gland http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/SYMP_0020058 severe bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0020057 bronchiole inflammation http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/SYMP_0020059 suppurative bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0020057 bronchiole inflammation http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/NCBITaxon_3046277 Orthoflavivirus flavi http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_0007771 epidermis gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_3048158 Orthoflavivirus japonicum http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_0008962 forelimb bone http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/NCBITaxon_3048215 Orthoflavivirus murrayense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/NCBITaxon_3048287 Orthoflavivirus powassanense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_0001535 vertebral artery http://purl.obolibrary.org/obo/UBERON_0002458 spinal artery http://purl.obolibrary.org/obo/NCBITaxon_3048448 Orthoflavivirus nilense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_0002387 foot http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/NCBITaxon_3048233 Orthoflavivirus omskense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_0002398 hand http://purl.obolibrary.org/obo/UBERON_0008785 upper limb segment http://purl.obolibrary.org/obo/NCBITaxon_3052465 Orthoflavivirus encephalitidis http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_0002336 corpus callosum http://purl.obolibrary.org/obo/UBERON_0005340 dorsal telencephalic commissure http://purl.obolibrary.org/obo/UBERON_0001677 sphenoid bone http://purl.obolibrary.org/obo/UBERON_0015060 sphenoid endochondral element http://purl.obolibrary.org/obo/NCBITaxon_3052468 Orthoflavivirus louisense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_0002228 rib http://purl.obolibrary.org/obo/UBERON_0015019 rib endochondral element http://purl.obolibrary.org/obo/NCBITaxon_3052464 Orthoflavivirus denguei http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_2001364 hemal spine http://purl.obolibrary.org/obo/UBERON_0004247 bone of dorsum http://purl.obolibrary.org/obo/NCBITaxon_3048170 Orthoflavivirus kyasanurense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_0002165 endocardium http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/NCBITaxon_3048459 Orthoflavivirus zikaense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_0002470 autopod region http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/NCBITaxon_3700964 Euflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/NCBITaxon_3052505 Orthomarburgvirus marburgense http://purl.obolibrary.org/obo/NCBITaxon_3044783 Orthomarburgvirus http://purl.obolibrary.org/obo/NCBITaxon_33743 Kyasanur Forest disease virus http://purl.obolibrary.org/obo/NCBITaxon_3048170 Orthoflavivirus kyasanurense http://purl.obolibrary.org/obo/UBERON_0008785 upper limb segment http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/NCBITaxon_32604 Human betaherpesvirus 6B http://purl.obolibrary.org/obo/NCBITaxon_3050297 Roseolovirus humanbeta6b http://purl.obolibrary.org/obo/UBERON_0001044 saliva-secreting gland http://purl.obolibrary.org/obo/UBERON_0010047 oral gland http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/UBERON_0002368 endocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/SO_0002387 5_prime_UTR_uORF_frameshift_variant http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/SO_0002388 5_prime_UTR_uORF_stop_codon_gain_variant http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/SO_0002389 5_prime_UTR_uORF_stop_codon_loss_variant http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/UBERON_0002419 skin gland http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/NCBITaxon_6681 Malacostraca http://purl.obolibrary.org/obo/NCBITaxon_3701029 Communostraca http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_235 Brucella abortus http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_29459 Brucella melitensis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/NCBITaxon_29461 Brucella suis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/NCBITaxon_36855 Brucella canis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/UBERON_0004859 eye gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/NCBITaxon_3691983 Clostridium botulinum group http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_7147 Diptera http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/UBERON_0006868 seminal fluid secreting gland http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/NCBITaxon_7509 Siphonaptera http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/UBERON_0015152 gland of ocular region http://purl.obolibrary.org/obo/UBERON_0002530 gland http://purl.obolibrary.org/obo/NCBITaxon_3048184 Orthoflavivirus loupingi http://purl.obolibrary.org/obo/NCBITaxon_3703354 Orthoflavivirus mediterranense http://purl.obolibrary.org/obo/UBERON_0002389 finger http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/NCBITaxon_33342 Paraneoptera http://purl.obolibrary.org/obo/NCBITaxon_3701061 Eumetabola http://purl.obolibrary.org/obo/UBERON_0001466 toe http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/NCBITaxon_33392 Endopterygota http://purl.obolibrary.org/obo/NCBITaxon_3701061 Eumetabola http://purl.obolibrary.org/obo/UBERON_0006048 digit 1 http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/NCBITaxon_6199 Cestoda http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/NCBITaxon_6178 Trematoda http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/NCBITaxon_3703354 Orthoflavivirus mediterranense http://purl.obolibrary.org/obo/NCBITaxon_3700964 Euflavivirus http://purl.obolibrary.org/obo/UBERON_0001707 nasal cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/NCBITaxon_3701029 Communostraca http://purl.obolibrary.org/obo/NCBITaxon_3701028 Altocrustacea http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/NCBITaxon_3701030 Allotriocarida http://purl.obolibrary.org/obo/NCBITaxon_3701028 Altocrustacea http://purl.obolibrary.org/obo/NCBITaxon_6960 Hexapoda http://purl.obolibrary.org/obo/NCBITaxon_3701030 Allotriocarida http://purl.obolibrary.org/obo/UBERON_0003728 mediastinum http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/NCBITaxon_6683 Decapoda http://purl.obolibrary.org/obo/NCBITaxon_3701045 Stomatocarida http://purl.obolibrary.org/obo/UBERON_0001179 peritoneal cavity http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/NCBITaxon_3701062 Aparaglossata http://purl.obolibrary.org/obo/UBERON_0002402 pleural cavity http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/DOID_10472 obsolete candidal pneumonia A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain. http://purl.obolibrary.org/obo/UBERON_0004704 bone fossa http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_10508 obsolete Bacillus anthracis pneumonia A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis. http://purl.obolibrary.org/obo/UBERON_0004867 orbital cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_10510 obsolete influenza virus pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills. http://purl.obolibrary.org/obo/UBERON_0013411 cranial cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_10527 obsolete Haemophilus influenzae pneumonia A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless. http://purl.obolibrary.org/obo/UBERON_0035809 serous cavity http://purl.obolibrary.org/obo/UBERON_0002553 anatomical cavity http://purl.obolibrary.org/obo/DOID_10531 obsolete pneumococcal pneumonia A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting. http://purl.obolibrary.org/obo/UBERON_0035014 functional part of brain http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_10532 obsolete streptococcal pneumonia A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias. http://purl.obolibrary.org/obo/UBERON_0001898 hypothalamus http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_10535 obsolete coxsackie myocarditis A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart. http://purl.obolibrary.org/obo/UBERON_0005408 circumventricular organ http://purl.obolibrary.org/obo/UBERON_0002616 regional part of brain http://purl.obolibrary.org/obo/DOID_10545 obsolete coxsackievirus infectious disease An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. http://purl.obolibrary.org/obo/UBERON_0002099 cardiac septum http://purl.obolibrary.org/obo/UBERON_0003037 septum http://purl.obolibrary.org/obo/DOID_10551 obsolete cerebral toxoplasmosis A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. http://purl.obolibrary.org/obo/UBERON_0001833 lip http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/DOID_10564 obsolete gangosa of yaws A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue. http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/UBERON_0003102 surface structure http://purl.obolibrary.org/obo/DOID_10731 obsolete nodular lung tuberculosis A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. http://purl.obolibrary.org/obo/UBERON_0000489 cavitated compound organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/DOID_1077 obsolete Spirurida infectious disease A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida. http://purl.obolibrary.org/obo/UBERON_0001005 respiratory airway http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_1078 obsolete Chromadorea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands. http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/UBERON_0003103 compound organ http://purl.obolibrary.org/obo/DOID_10902 obsolete pulmonary actinomycosis An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses. http://purl.obolibrary.org/obo/UBERON_0002299 alveolus of lung http://purl.obolibrary.org/obo/UBERON_0003215 alveolus http://purl.obolibrary.org/obo/DOID_10910 obsolete echovirus meningitis A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness. http://purl.obolibrary.org/obo/UBERON_0002351 sinoatrial node http://purl.obolibrary.org/obo/UBERON_0010131 conducting tissue of heart http://purl.obolibrary.org/obo/DOID_10911 obsolete echovirus infectious disease An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. http://purl.obolibrary.org/obo/UBERON_0001739 laryngeal cartilage http://purl.obolibrary.org/obo/UBERON_0011004 pharyngeal arch cartilage http://purl.obolibrary.org/obo/DOID_10919 obsolete transsexualism A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. http://purl.obolibrary.org/obo/UBERON_0001323 tibial nerve http://purl.obolibrary.org/obo/UBERON_0003431 leg nerve http://purl.obolibrary.org/obo/DOID_10957 obsolete Enterobacter aerogenes intestinal infectious disease An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers. http://purl.obolibrary.org/obo/DOID_10958 obsolete Salmonella arizonae intestinal infectious disease A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea. http://purl.obolibrary.org/obo/UBERON_0001423 radius bone http://purl.obolibrary.org/obo/UBERON_0015001 radius endochondral element http://purl.obolibrary.org/obo/DOID_10959 obsolete Escherichia coli intestinal infectious disease A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting. http://purl.obolibrary.org/obo/UBERON_0004087 vena cava http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart http://purl.obolibrary.org/obo/DOID_10978 obsolete poliovirus type III nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/UBERON_0001673 central retinal vein http://purl.obolibrary.org/obo/UBERON_0009141 craniocervical region vein http://purl.obolibrary.org/obo/DOID_10979 obsolete poliovirus type I nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/DOID_10980 obsolete poliovirus type II nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/UBERON_0001637 artery http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel http://purl.obolibrary.org/obo/DOID_11092 obsolete Salmonella gastroenteritis A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness. http://purl.obolibrary.org/obo/UBERON_0003221 phalanx http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/DOID_11093 obsolete bacterial gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting. http://purl.obolibrary.org/obo/UBERON_0000981 femur http://purl.obolibrary.org/obo/UBERON_0015052 femur endochondral element http://purl.obolibrary.org/obo/DOID_11097 obsolete pulmonary syphilis A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever. http://purl.obolibrary.org/obo/UBERON_0003663 hindlimb muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_11167 obsolete uterine cervix condylomata acuminata An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts. http://purl.obolibrary.org/obo/UBERON_0001383 muscle of leg http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_11169 obsolete vaginal condylomata acuminata An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts. http://purl.obolibrary.org/obo/UBERON_0002491 lambdoid suture http://purl.obolibrary.org/obo/UBERON_0003685 cranial suture http://purl.obolibrary.org/obo/DOID_11170 obsolete vulvar condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts. http://purl.obolibrary.org/obo/UBERON_0001103 diaphragm http://purl.obolibrary.org/obo/UBERON_0003831 respiratory system muscle http://purl.obolibrary.org/obo/DOID_11171 obsolete urethral condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts. http://purl.obolibrary.org/obo/UBERON_0001091 calcareous tooth http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_11172 obsolete anal condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts. http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/DOID_11179 obsolete otitis media with effusion A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. http://purl.obolibrary.org/obo/UBERON_0007502 epithelial plexus http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube http://purl.obolibrary.org/obo/DOID_11182 obsolete chronic otitis media with effusion A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting. http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct http://purl.obolibrary.org/obo/UBERON_0006555 excretory tube http://purl.obolibrary.org/obo/DOID_11259 obsolete Cytomegalovirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. http://purl.obolibrary.org/obo/UBERON_0006615 venous sinus http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel http://purl.obolibrary.org/obo/DOID_11261 obsolete foot and mouth disease A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness. http://purl.obolibrary.org/obo/UBERON_0011004 pharyngeal arch cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_11314 obsolete Histoplasma duboisii retinitis An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions. http://purl.obolibrary.org/obo/DOID_11340 obsolete Pneumocystis infectious disease An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/DOID_11341 obsolete fungal lung infectious disease A lung disease that is a mycosis caused by fungal growth in the lungs. http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland http://purl.obolibrary.org/obo/DOID_11404 obsolete diphtheritic laryngotracheitis A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough. http://purl.obolibrary.org/obo/UBERON_0005208 right atrium valve http://purl.obolibrary.org/obo/UBERON_0003978 valve http://purl.obolibrary.org/obo/DOID_11418 obsolete Trichomonas urethritis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination. http://purl.obolibrary.org/obo/UBERON_0004014 labium minora http://purl.obolibrary.org/obo/UBERON_0004120 mesoderm-derived structure http://purl.obolibrary.org/obo/DOID_11523 obsolete Clostridium perfringens gastroenteritis A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas. http://purl.obolibrary.org/obo/UBERON_0004085 labium majora http://purl.obolibrary.org/obo/UBERON_0004084 genital labium http://purl.obolibrary.org/obo/DOID_11607 obsolete candidal meningitis A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses. http://purl.obolibrary.org/obo/UBERON_0000159 anal canal http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_11680 obsolete ocular onchocerciasis A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness. http://purl.obolibrary.org/obo/UBERON_0003959 rete testis http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/DOID_11699 obsolete intrathoracic lymph node tuberculosis A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe. http://purl.obolibrary.org/obo/UBERON_0000025 tube http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_11741 obsolete Chlamydophila pneumoniae pneumonia A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress. http://purl.obolibrary.org/obo/UBERON_0000055 vessel http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_11892 obsolete Amoebozoa infectious disease A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa. http://purl.obolibrary.org/obo/UBERON_0000161 orifice http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0001352 external acoustic meatus http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_11893 obsolete cutaneous amebiasis An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body. http://purl.obolibrary.org/obo/UBERON_0005744 bone foramen http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_11896 obsolete Acanthamoeba keratitis A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye. http://purl.obolibrary.org/obo/UBERON_0011859 internal acoustic meatus http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/DOID_11897 obsolete Blastocystis hominis infectious disease A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence. http://purl.obolibrary.org/obo/UBERON_0002367 prostate gland http://purl.obolibrary.org/obo/UBERON_0010147 male accessory sex gland http://purl.obolibrary.org/obo/DOID_11902 obsolete cerebral amebiasis An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses. http://purl.obolibrary.org/obo/UBERON_0000056 ureter http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_11943 obsolete Trichomonas vaginitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. http://purl.obolibrary.org/obo/UBERON_0000948 heart http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_11944 obsolete Trichomonas prostatitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis. http://purl.obolibrary.org/obo/UBERON_0000989 penis http://purl.obolibrary.org/obo/UBERON_0008811 intromittent organ http://purl.obolibrary.org/obo/DOID_11945 obsolete Trichomonas cystitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color. http://purl.obolibrary.org/obo/UBERON_0000996 vagina http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0000998 seminal vesicle http://purl.obolibrary.org/obo/UBERON_0006868 seminal fluid secreting gland http://purl.obolibrary.org/obo/DOID_11964 obsolete Histoplasma capsulatum retinitis An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions. http://purl.obolibrary.org/obo/UBERON_0003889 fallopian tube http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_12017 obsolete group B streptococcal pneumonia A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly. http://purl.obolibrary.org/obo/UBERON_0006589 round ligament of uterus http://purl.obolibrary.org/obo/UBERON_0008845 nonskeletal ligament http://purl.obolibrary.org/obo/UBERON_0001533 subclavian artery http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery http://purl.obolibrary.org/obo/DOID_12019 obsolete group A streptococcal pneumonia A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst. http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/DOID_12052 obsolete cryptococcal meningitis A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion. http://purl.obolibrary.org/obo/UBERON_0000966 retina http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0001017 central nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_12054 obsolete Trypanosoma meningitis A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species. http://purl.obolibrary.org/obo/DOID_12115 obsolete streptococcal pharyngitis A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills. http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle http://purl.obolibrary.org/obo/DOID_12133 obsolete Yersinia enterocolitica intestinal infectious disease A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children). http://purl.obolibrary.org/obo/DOID_12141 obsolete adenovirus meningitis An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion. http://purl.obolibrary.org/obo/UBERON_2000364 hypural http://purl.obolibrary.org/obo/UBERON_2001364 hemal spine http://purl.obolibrary.org/obo/DOID_122 obsolete abdominal cancer A cancer by anatomical entitiy that affects the organs in the abdominal cavity. http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/UBERON_0006003 integumentary adnexa http://purl.obolibrary.org/obo/DOID_1221 obsolete infiltrative lung tuberculosis A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung. http://purl.obolibrary.org/obo/UBERON_0008789 cranial fossa http://purl.obolibrary.org/obo/UBERON_0004704 bone fossa http://purl.obolibrary.org/obo/UBERON_0002418 cartilage tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/DOID_12210 obsolete Wuchereria bancrofti filariasis A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis. http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue http://purl.obolibrary.org/obo/UBERON_0004755 skeletal tissue http://purl.obolibrary.org/obo/UBERON_0001474 bone element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/UBERON_0003913 tooth-like structure http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_12245 obsolete histoplasmosis endocarditis A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. http://purl.obolibrary.org/obo/UBERON_0004756 dermal skeletal element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_12252 obsolete Cushing's syndrome An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_12302 obsolete diphtheritic membranous angina A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils. http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_12404 obsolete tinea A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin. http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element http://purl.obolibrary.org/obo/DOID_1253 obsolete Enoplea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands. http://purl.obolibrary.org/obo/DOID_12569 obsolete Chagas cardiomyopathy A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death. http://purl.obolibrary.org/obo/UBERON_0004742 dentary http://purl.obolibrary.org/obo/UBERON_0015212 lateral structure http://purl.obolibrary.org/obo/DOID_12608 obsolete staphylococcal pneumonia A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/DOID_12633 obsolete cervicofacial actinomycosis An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. http://purl.obolibrary.org/obo/UBERON_0000059 large intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0000160 intestine http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_12634 obsolete cerebral actinomycosis An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess. http://purl.obolibrary.org/obo/UBERON_0000165 mouth http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_1265 obsolete genitourinary cancer An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs. http://purl.obolibrary.org/obo/UBERON_0000945 stomach http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0001052 rectum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_12710 obsolete Histoplasma duboisii pneumonia An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. http://purl.obolibrary.org/obo/UBERON_0001155 colon http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0002108 small intestine http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_12739 obsolete bronchial tuberculosis A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways. http://purl.obolibrary.org/obo/UBERON_0002114 duodenum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_1275 obsolete Pneumovirus infectious disease A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions. http://purl.obolibrary.org/obo/UBERON_0002115 jejunum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0002116 ileum http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_12763 obsolete classic Kaposi's sarcoma A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet. http://purl.obolibrary.org/obo/UBERON_0006562 pharynx http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/DOID_12765 obsolete peritonsillar abscess A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common. http://purl.obolibrary.org/obo/UBERON_0000168 proximal-distal subdivision of colon http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/UBERON_0009856 sac http://purl.obolibrary.org/obo/DOID_12773 obsolete endemic African Kaposi's sarcoma A Kaposi's sarcoma that is located_in black Africans. http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/DOID_12779 obsolete recurrent Kaposi's sarcoma A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes. http://purl.obolibrary.org/obo/UBERON_0000344 mucosa http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_12819 obsolete Clostridium difficile intestinal infectious disease A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain. http://purl.obolibrary.org/obo/UBERON_0002523 tunica intima http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_12840 obsolete Ancylostoma ceylanicum ancylostomiasis An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine. http://purl.obolibrary.org/obo/UBERON_0005358 ventricle of nervous system http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_12888 obsolete Chlamydophila psittaci pneumonia An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum. http://purl.obolibrary.org/obo/DOID_1301 obsolete RNA virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material. http://purl.obolibrary.org/obo/UBERON_0005388 photoreceptor array http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_13019 obsolete cryptococcal gastroenteritis A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain. http://purl.obolibrary.org/obo/UBERON_0005983 heart layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_13020 obsolete pulmonary cryptococcosis A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing. http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_13021 obsolete AIDS-related cryptococcosis A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV. http://purl.obolibrary.org/obo/UBERON_0018260 layer of muscle tissue http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/DOID_13032 obsolete Trichomonas balanoposthitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin. http://purl.obolibrary.org/obo/UBERON_0022351 parietal serous membrane http://purl.obolibrary.org/obo/UBERON_0004923 organ component layer http://purl.obolibrary.org/obo/UBERON_0034933 layer of smooth muscle tissue http://purl.obolibrary.org/obo/UBERON_0018260 layer of muscle tissue http://purl.obolibrary.org/obo/UBERON_0006810 olecranon http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/DOID_13047 obsolete Ancylostoma braziliense ancylostomiasis An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions. http://purl.obolibrary.org/obo/UBERON_0001437 epiphysis http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/DOID_13049 obsolete Ancylostoma duodenale ancylostomiasis An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia. http://purl.obolibrary.org/obo/UBERON_0001438 metaphysis http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/DOID_1305 obsolete AIDS dementia complex A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. http://purl.obolibrary.org/obo/DOID_1306 obsolete HIV encephalopathy An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change. http://purl.obolibrary.org/obo/UBERON_0001300 scrotum http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/DOID_13076 obsolete abdominal actinomycosis An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation. http://purl.obolibrary.org/obo/UBERON_0005352 spermatic cord http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/DOID_13077 obsolete cutaneous actinomycosis An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules. http://purl.obolibrary.org/obo/UBERON_0009853 body of uterus http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/DOID_1308 obsolete AIDS related complex A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss. http://purl.obolibrary.org/obo/UBERON_0011374 prepuce http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/DOID_1311 obsolete HIV-associated nephropathy A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (greater than 3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_1313 obsolete HIV wasting syndrome An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. http://purl.obolibrary.org/obo/UBERON_0012337 cauda equina http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_13149 obsolete tuberculous lung fibrosis A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred). http://purl.obolibrary.org/obo/UBERON_0000122 neuron projection bundle http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_13164 obsolete Bordetella pertussis pneumonia A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing. http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_13165 obsolete Aspergillus pneumonia An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever. http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/UBERON_0005162 multi cell part structure http://purl.obolibrary.org/obo/DOID_13251 obsolete HIV enteropathy A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12. http://purl.obolibrary.org/obo/UBERON_0001774 skeletal muscle of trunk http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/UBERON_0000965 lens of camera-type eye http://purl.obolibrary.org/obo/UBERON_0005389 transparent eye structure http://purl.obolibrary.org/obo/UBERON_0010145 paraurethral gland http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/DOID_13257 obsolete Histoplasma duboisii endocarditis An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. http://purl.obolibrary.org/obo/UBERON_0011826 vestibular gland http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland http://purl.obolibrary.org/obo/DOID_13273 obsolete Escherichia coli pneumonia A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages. http://purl.obolibrary.org/obo/UBERON_0010147 male accessory sex gland http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland http://purl.obolibrary.org/obo/DOID_13274 obsolete enzootic pneumonia of calves A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms. http://purl.obolibrary.org/obo/DOID_13275 obsolete rickettsial pneumonia A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema. http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland http://purl.obolibrary.org/obo/DOID_13277 obsolete Mycoplasma hyopneumoniae pneumonia A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough. http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/UBERON_0005744 bone foramen http://purl.obolibrary.org/obo/DOID_13278 obsolete Salmonella pneumonia A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation. http://purl.obolibrary.org/obo/UBERON_0002544 digit http://purl.obolibrary.org/obo/UBERON_0005881 autopodial extension http://purl.obolibrary.org/obo/DOID_13285 obsolete enteroinvasive Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever. http://purl.obolibrary.org/obo/UBERON_0005055 zone of long bone http://purl.obolibrary.org/obo/UBERON_0005913 zone of bone organ http://purl.obolibrary.org/obo/DOID_13305 obsolete anterior nasal diphtheria A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy. http://purl.obolibrary.org/obo/UBERON_0001463 thumb http://purl.obolibrary.org/obo/UBERON_0019231 manual digit 1 or 5 http://purl.obolibrary.org/obo/DOID_13307 obsolete pseudomembranous diphtheritic conjunctivitis A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane. http://purl.obolibrary.org/obo/UBERON_0003631 big toe http://purl.obolibrary.org/obo/UBERON_0019241 pedal digit 1 or 5 http://purl.obolibrary.org/obo/DOID_13308 obsolete diphtheritic myocarditis A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae. http://purl.obolibrary.org/obo/UBERON_0000978 leg http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/DOID_13309 obsolete nasopharyngeal diphtheria A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic bullneck apprearance. http://purl.obolibrary.org/obo/UBERON_0005486 venous dural sinus http://purl.obolibrary.org/obo/UBERON_0006615 venous sinus http://purl.obolibrary.org/obo/DOID_1332 obsolete Bunyaviridae infectious disease A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors. http://purl.obolibrary.org/obo/UBERON_0007425 decussation of diencephalon http://purl.obolibrary.org/obo/UBERON_0007418 neural decussation http://purl.obolibrary.org/obo/DOID_1333 obsolete african horse sickness A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue. http://purl.obolibrary.org/obo/UBERON_0013141 capillary bed http://purl.obolibrary.org/obo/UBERON_0007502 epithelial plexus http://purl.obolibrary.org/obo/DOID_13335 obsolete Toxoplasma hepatitis A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice. http://purl.obolibrary.org/obo/UBERON_0001810 nerve plexus http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/UBERON_1100000 digestive tract junction http://purl.obolibrary.org/obo/UBERON_0007651 anatomical junction http://purl.obolibrary.org/obo/DOID_13338 obsolete Toxoplasma myocarditis A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain. http://purl.obolibrary.org/obo/UBERON_0003406 cartilage of respiratory system http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_1334 obsolete Reoviridae infectious disease A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses. http://purl.obolibrary.org/obo/UBERON_0003933 cranial cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_13342 obsolete Toxoplasma pneumonia A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales. http://purl.obolibrary.org/obo/UBERON_0011135 intervertebral cartilage http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element http://purl.obolibrary.org/obo/DOID_13343 obsolete ocular toxoplasmosis A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness. http://purl.obolibrary.org/obo/UBERON_0001465 knee http://purl.obolibrary.org/obo/UBERON_0008784 lower limb segment http://purl.obolibrary.org/obo/DOID_1335 obsolete bluetongue A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue. http://purl.obolibrary.org/obo/DOID_1336 obsolete Nairobi sheep disease A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration. http://purl.obolibrary.org/obo/DOID_13459 obsolete secondary syphilitic hepatitis A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions. http://purl.obolibrary.org/obo/DOID_13470 obsolete primary anal syphilis A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum. http://purl.obolibrary.org/obo/UBERON_0011136 ligament of vertebral column http://purl.obolibrary.org/obo/UBERON_0008846 skeletal ligament http://purl.obolibrary.org/obo/DOID_13526 obsolete candidal endocarditis A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly. http://purl.obolibrary.org/obo/UBERON_0001705 nail http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/DOID_13527 obsolete candidal otitis externa A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis. http://purl.obolibrary.org/obo/UBERON_0000916 abdomen http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/UBERON_0002356 perineum http://purl.obolibrary.org/obo/UBERON_0009569 subdivision of trunk http://purl.obolibrary.org/obo/DOID_13528 obsolete candidal enteritis A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration. http://purl.obolibrary.org/obo/UBERON_0001153 caecum http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum http://purl.obolibrary.org/obo/DOID_13601 obsolete enteropathogenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea. http://purl.obolibrary.org/obo/UBERON_0001160 fundus of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_13623 obsolete staphylococcal enterocolitis A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea. http://purl.obolibrary.org/obo/UBERON_0001162 cardia of stomach http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_13663 obsolete acute suppurative otitis media with tympanic membrane intact A purulent acute otitis media with no perforation of the tympanic membrane. http://purl.obolibrary.org/obo/UBERON_0001165 pyloric antrum http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_13720 obsolete Schistosoma mattheei infectious disease A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei. http://purl.obolibrary.org/obo/UBERON_0001166 pylorus http://purl.obolibrary.org/obo/UBERON_0009870 zone of stomach http://purl.obolibrary.org/obo/DOID_13723 obsolete Schistosoma bovis infectious disease A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis. http://purl.obolibrary.org/obo/UBERON_0000964 cornea http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/DOID_13734 obsolete AIDS-related Pneumocystis jirovecii pneumonia A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV. http://purl.obolibrary.org/obo/UBERON_0000062 organ http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_13753 obsolete Histoplasma duboisii meningitis An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. http://purl.obolibrary.org/obo/UBERON_0000064 organ part http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_13754 obsolete Histoplasma capsulatum meningitis An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. http://purl.obolibrary.org/obo/UBERON_0000475 organism subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_13755 obsolete Histoplasma duboisii pericarditis An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. http://purl.obolibrary.org/obo/UBERON_0000479 tissue http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_13762 obsolete bovine trypanosomiasis A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss. http://purl.obolibrary.org/obo/UBERON_0000481 multi-tissue structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_13763 obsolete dourine A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs. http://purl.obolibrary.org/obo/UBERON_0003947 brain ventricle/choroid plexus http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_13979 obsolete primary pulmonary coccidioidomycosis A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules. http://purl.obolibrary.org/obo/UBERON_0004111 anatomical conduit http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_13980 obsolete coccidioidal meningitis A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus. http://purl.obolibrary.org/obo/UBERON_0005156 reproductive structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_14311 obsolete Norovirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever. http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_14326 obsolete avian malaria A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia. http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_14338 obsolete Pseudomonal pneumonia A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias. http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0010000 multicellular anatomical structure http://purl.obolibrary.org/obo/DOID_14360 obsolete Opisthorchis viverrini infectious disease A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/UBERON_0010314 structure with developmental contribution from neural crest http://purl.obolibrary.org/obo/DOID_14419 obsolete Mansonella ozzardi infectious disease A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease. http://purl.obolibrary.org/obo/UBERON_0034978 paraganglion (generic) http://purl.obolibrary.org/obo/UBERON_0010313 neural crest-derived structure http://purl.obolibrary.org/obo/DOID_14421 obsolete Brugia malayi filariasis A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection. http://purl.obolibrary.org/obo/UBERON_0010011 collection of basal ganglia http://purl.obolibrary.org/obo/UBERON_0010009 aggregate regional part of brain http://purl.obolibrary.org/obo/DOID_14433 obsolete enterohemorrhagic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge. http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/UBERON_0014382 collection of hairs on head or neck http://purl.obolibrary.org/obo/DOID_14434 obsolete enterotoxigenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever. http://purl.obolibrary.org/obo/UBERON_0014382 collection of hairs on head or neck http://purl.obolibrary.org/obo/UBERON_0010164 collection of hairs http://purl.obolibrary.org/obo/DOID_14473 obsolete adenovirus pneumonia An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells. http://purl.obolibrary.org/obo/UBERON_0010167 beard http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/DOID_14474 obsolete respiratory syncytial virus pneumonia A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium. http://purl.obolibrary.org/obo/UBERON_0010163 eyebrow http://purl.obolibrary.org/obo/UBERON_0010165 collection of hair on face http://purl.obolibrary.org/obo/DOID_14475 obsolete parainfluenzal pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever. http://purl.obolibrary.org/obo/UBERON_3000701 intervertebral space http://purl.obolibrary.org/obo/UBERON_0010276 space in vertebral column http://purl.obolibrary.org/obo/DOID_14476 obsolete SARS coronavirus pneumonia A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure. http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/DOID_14477 obsolete Cytomegalovirus pneumonia A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies. http://purl.obolibrary.org/obo/UBERON_0001708 jaw skeleton http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/DOID_14520 obsolete adenovirus gastroenteritis An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever. http://purl.obolibrary.org/obo/UBERON_0000923 germ layer http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest http://purl.obolibrary.org/obo/DOID_1492 obsolete eye and adnexa disease A sensory system disease that is located_in the eye or the adnexa of the eye. http://purl.obolibrary.org/obo/DOID_153 obsolete fibroepithelial neoplasm A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue. http://purl.obolibrary.org/obo/UBERON_0015019 rib endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/DOID_157 obsolete epithelial carcinoma A carcinoma that derives_from the cells that line an organ. http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/DOID_1665 obsolete central nervous system embryonal cancer An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord. http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/DOID_1730 obsolete histoplasmosis pneumonia A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. http://purl.obolibrary.org/obo/UBERON_0015060 sphenoid endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/UBERON_0010363 endochondral element http://purl.obolibrary.org/obo/DOID_1734 obsolete viral gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting. http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/UBERON_0015061 limb endochondral element http://purl.obolibrary.org/obo/DOID_338 obsolete cranial nerve neoplasm A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. http://purl.obolibrary.org/obo/UBERON_0002529 limb segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/DOID_4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/UBERON_0006058 multi-limb segment region http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/HP_0003674 onset The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/UBERON_0010538 paired limb/fin segment http://purl.obolibrary.org/obo/UBERON_0010758 subdivision of organism along appendicular axis http://purl.obolibrary.org/obo/DOID_0111372 obsolete autosomal dominant endosteal hyperostosis An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/UBERON_0014795 pelvic appendage muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0051079 obsolete monogenic chronic kidney disease A chronic kidney disease that has_material_basis_in a mutation in a single gene. http://purl.obolibrary.org/obo/UBERON_0011141 appendicular ossicle http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/SYMP_0000462 symptom A symptom is a perceived change in function, sensation, loss, disturbance or appearance reported by a patient indicative of a disease. http://purl.obolibrary.org/obo/UBERON_0013631 sesamoid element http://purl.obolibrary.org/obo/UBERON_0010911 ossicle http://purl.obolibrary.org/obo/TRANS_0000000 transmission process A process that is the means during which the pathogen is transmitted directly or indirectly from its natural reservoir, a susceptible host or source to a new host. http://purl.obolibrary.org/obo/UBERON_0002209 fibrous joint http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/DOID_0111201 obsolete distal hereditary motor neuronopathy type 7A A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. http://purl.obolibrary.org/obo/UBERON_0002213 cartilaginous joint http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint http://purl.obolibrary.org/obo/DOID_0111204 obsolete distal hereditary motor neuronopathy type 5A A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3. http://purl.obolibrary.org/obo/UBERON_0001066 intervertebral disk http://purl.obolibrary.org/obo/UBERON_0011135 intervertebral cartilage http://purl.obolibrary.org/obo/DOID_0111208 obsolete distal hereditary motor neuronopathy type 2A A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23. http://purl.obolibrary.org/obo/UBERON_0000956 cerebral cortex http://purl.obolibrary.org/obo/UBERON_0016548 central nervous system gray matter layer http://purl.obolibrary.org/obo/DOID_0090121 obsolete apparent mineralocorticoid excess An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. http://purl.obolibrary.org/obo/UBERON_0002020 gray matter http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/DOID_0070075 obsolete Kleefstra Syndrome An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/UBERON_0016550 spinal cord column http://purl.obolibrary.org/obo/UBERON_0011215 central nervous system cell part cluster http://purl.obolibrary.org/obo/DOID_0070076 obsolete Koolen-De Vries syndrome An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/UBERON_0000010 peripheral nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_0070101 obsolete Noonan syndrome 1 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13. http://purl.obolibrary.org/obo/UBERON_0002410 autonomic nervous system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_0070102 obsolete Noonan syndrome 2 A Noonan syndrome that has_material_basis_in an autosomal recessive mutation. http://purl.obolibrary.org/obo/UBERON_0006558 lymphatic part of lymphoid system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_0070103 obsolete Noonan syndrome 3 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1. http://purl.obolibrary.org/obo/UBERON_0000075 subdivision of skeletal system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_0070104 obsolete Noonan syndrome 4 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1. http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/DOID_0070105 obsolete Noonan syndrome 5 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2. http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0010912 subdivision of skeleton http://purl.obolibrary.org/obo/UBERON_0011216 organ system subdivision http://purl.obolibrary.org/obo/UBERON_0011822 dense irregular connective tissue http://purl.obolibrary.org/obo/UBERON_0011823 dense connective tissue http://purl.obolibrary.org/obo/DOID_0070106 obsolete Noonan syndrome 6 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2. http://purl.obolibrary.org/obo/UBERON_0011825 loose connective tissue http://purl.obolibrary.org/obo/UBERON_0011821 irregular connective tissue http://purl.obolibrary.org/obo/DOID_0070107 obsolete Noonan syndrome 7 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34. http://purl.obolibrary.org/obo/UBERON_0001961 mucosa-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0012069 epithelium-associated lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0015189 perineural vascular plexus http://purl.obolibrary.org/obo/UBERON_0013141 capillary bed http://purl.obolibrary.org/obo/UBERON_0000995 uterus http://purl.obolibrary.org/obo/UBERON_0013515 subdivision of oviduct http://purl.obolibrary.org/obo/DOID_0070108 obsolete Noonan syndrome 8 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/UBERON_0000072 proximo-distal subdivision of respiratory tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/DOID_0070109 obsolete Noonan syndrome 9 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3. http://purl.obolibrary.org/obo/UBERON_0001051 hypopharynx http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0004921 subdivision of digestive tract http://purl.obolibrary.org/obo/UBERON_0013522 subdivision of tube http://purl.obolibrary.org/obo/UBERON_0001479 sesamoid bone http://purl.obolibrary.org/obo/UBERON_0013631 sesamoid element http://purl.obolibrary.org/obo/DOID_0070110 obsolete Noonan syndrome 10 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/UBERON_0002279 vestibular aqueduct http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/DOID_0081119 obsolete benign familial infantile seizures 6 A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. http://purl.obolibrary.org/obo/UBERON_0018321 foramen for glossopharyngeal nerve http://purl.obolibrary.org/obo/UBERON_0013685 foramen of skull http://purl.obolibrary.org/obo/DOID_0081376 obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. http://purl.obolibrary.org/obo/UBERON_0009564 distal limb integumentary appendage http://purl.obolibrary.org/obo/UBERON_0013703 integumentary projection http://purl.obolibrary.org/obo/ECO_0000000 evidence A type of information that is used to support an assertion. http://purl.obolibrary.org/obo/UBERON_0002027 stratum corneum of epidermis http://purl.obolibrary.org/obo/UBERON_0013754 integumentary system layer http://purl.obolibrary.org/obo/DOID_0070190 obsolete autosomal dominant chronic granulomatous disease A chronic granulomatous disease characterized by autosomal dominant inheritance. http://purl.obolibrary.org/obo/UBERON_0001154 vermiform appendix http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/UBERON_0010039 food storage organ http://purl.obolibrary.org/obo/UBERON_0013765 digestive system element http://purl.obolibrary.org/obo/DOID_0070312 obsolete Peters-Plus Syndrome A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability. http://purl.obolibrary.org/obo/UBERON_0000366 flexor muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0111292 obsolete idiopathic generalized epilepsy 10 An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. http://purl.obolibrary.org/obo/UBERON_0003661 limb muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0111312 obsolete idiopathic generalized epilepsy 11 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1. http://purl.obolibrary.org/obo/UBERON_0010890 pelvic complex muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0111313 obsolete idiopathic generalized epilepsy 12 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2. http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate http://purl.obolibrary.org/obo/DOID_0111314 obsolete idiopathic generalized epilepsy 13 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. http://purl.obolibrary.org/obo/UBERON_0015001 radius endochondral element http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/DOID_0111315 obsolete idiopathic generalized epilepsy 14 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12. http://purl.obolibrary.org/obo/UBERON_0015053 humerus endochondral element http://purl.obolibrary.org/obo/UBERON_0015021 forelimb endochondral element http://purl.obolibrary.org/obo/DOID_0111316 obsolete idiopathic generalized epilepsy 15 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13. http://purl.obolibrary.org/obo/DOID_0111317 obsolete idiopathic generalized epilepsy 2 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0111318 obsolete idiopathic generalized epilepsy 3 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33. http://purl.obolibrary.org/obo/DOID_0111319 obsolete idiopathic generalized epilepsy 4 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26. http://purl.obolibrary.org/obo/UBERON_0015004 tibia endochondral element http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/DOID_0111320 obsolete idiopathic generalized epilepsy 5 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22. http://purl.obolibrary.org/obo/UBERON_0015052 femur endochondral element http://purl.obolibrary.org/obo/UBERON_0015022 hindlimb endochondral element http://purl.obolibrary.org/obo/DOID_0111321 obsolete idiopathic generalized epilepsy 7 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. http://purl.obolibrary.org/obo/UBERON_0015023 phalanx endochondral element http://purl.obolibrary.org/obo/UBERON_0015063 autopod endochondral element http://purl.obolibrary.org/obo/DOID_0111322 obsolete idiopathic generalized epilepsy 8 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. http://purl.obolibrary.org/obo/UBERON_0015154 lateral gland of orbital region http://purl.obolibrary.org/obo/UBERON_0015152 gland of ocular region http://purl.obolibrary.org/obo/DOID_0111323 obsolete idiopathic generalized epilepsy 9 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. http://purl.obolibrary.org/obo/UBERON_0001032 sensory system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/DOID_0080701 obsolete prothrombin thrombophilia A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. http://purl.obolibrary.org/obo/UBERON_0002405 immune system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/DOID_0060963 obsolete dystonia, DOPA-responsive A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_0080191 obsolete PTEN hamartoma tumor syndrome A syndrome comprised of a spectrum of related disorders characterized by the formation of hamartomas, overgrowth, and predisposition to cancer that has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/DOID_0110952 obsolete Waardenburg syndrome type 2D A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11. http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system http://purl.obolibrary.org/obo/UBERON_0015204 glandular system http://purl.obolibrary.org/obo/DOID_0111794 obsolete congenital nystagmus 4 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33. http://purl.obolibrary.org/obo/UBERON_0002257 ventral horn of spinal cord http://purl.obolibrary.org/obo/UBERON_0016550 spinal cord column http://purl.obolibrary.org/obo/DOID_0111810 obsolete syndromic microphthalmia 4 A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28. http://purl.obolibrary.org/obo/UBERON_0004084 genital labium http://purl.obolibrary.org/obo/UBERON_8480029 skin of external genitalia http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver Environmental or genetic mechanisms driving the occurrance of complex diseases. http://purl.obolibrary.org/obo/UBERON_0007100 primary circulatory organ http://purl.obolibrary.org/obo/UBERON_0015228 circulatory organ http://purl.obolibrary.org/obo/DOID_0081164 obsolete dilated cardiomyopathy 3B A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21. http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/UBERON_0015757 heterogeneous tissue http://purl.obolibrary.org/obo/DOID_0061095 obsolete immunodeficiency 130 A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. http://purl.obolibrary.org/obo/UBERON_0001872 parietal lobe http://purl.obolibrary.org/obo/UBERON_0016526 lobe of cerebral hemisphere http://purl.obolibrary.org/obo/DOID_0111612 obsolete autosomal recessive spinocerebellar ataxia 3 An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. http://purl.obolibrary.org/obo/UBERON_0016525 frontal lobe http://purl.obolibrary.org/obo/UBERON_0016526 lobe of cerebral hemisphere http://purl.obolibrary.org/obo/UBERON_0004885 hilum http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/DOID_0080713 obsolete MECP2 duplication syndrome A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking. http://purl.obolibrary.org/obo/UBERON_0005340 dorsal telencephalic commissure http://purl.obolibrary.org/obo/UBERON_0019294 commissure of telencephalon http://purl.obolibrary.org/obo/DOID_10437 obsolete metastasis to lymph node http://purl.obolibrary.org/obo/UBERON_0022276 splenic flexure of colon http://purl.obolibrary.org/obo/UBERON_0022275 colic flexure http://purl.obolibrary.org/obo/DOID_1044 obsolete nontraumatic rupture of muscle http://purl.obolibrary.org/obo/DOID_10447 obsolete thyroid dysfunction complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/UBERON_0016548 central nervous system gray matter layer http://purl.obolibrary.org/obo/UBERON_0022303 nervous system cell part layer http://purl.obolibrary.org/obo/DOID_1045 obsolete fascia disease http://purl.obolibrary.org/obo/UBERON_0001366 parietal peritoneum http://purl.obolibrary.org/obo/UBERON_0022351 parietal serous membrane http://purl.obolibrary.org/obo/DOID_10469 obsolete diabetes mellitus juvenile type, uncontrolled, with neurological manifestations http://purl.obolibrary.org/obo/UBERON_0004529 anatomical projection http://purl.obolibrary.org/obo/UBERON_0034768 morphological feature http://purl.obolibrary.org/obo/DOID_1047 obsolete Mental disorder complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue http://purl.obolibrary.org/obo/DOID_10473 obsolete wrist or carpus enthesopathy http://purl.obolibrary.org/obo/UBERON_0001756 middle ear http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/DOID_10483 obsolete hypertonic, incoordinate, or prolonged uterine contractions http://purl.obolibrary.org/obo/UBERON_0004905 articulation http://purl.obolibrary.org/obo/UBERON_0034921 multi organ part structure http://purl.obolibrary.org/obo/DOID_10489 obsolete transient disorder of initiating or maintaining wakefulness http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/UBERON_0009842 glandular acinus http://purl.obolibrary.org/obo/UBERON_0034922 cell cluster http://purl.obolibrary.org/obo/DOID_10494 obsolete pulmonary valve syphilitic endocarditis http://purl.obolibrary.org/obo/UBERON_0000477 anatomical cluster http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/DOID_10501 obsolete menopausal and postmenopausal disorder http://purl.obolibrary.org/obo/UBERON_0010009 aggregate regional part of brain http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system http://purl.obolibrary.org/obo/UBERON_0034923 disconnected anatomical group http://purl.obolibrary.org/obo/UBERON_0010164 collection of hairs http://purl.obolibrary.org/obo/UBERON_0034925 anatomical collection http://purl.obolibrary.org/obo/DOID_10505 obsolete generalized nonconvulsive epilepsy disease http://purl.obolibrary.org/obo/DOID_10521 obsolete pinna disease http://purl.obolibrary.org/obo/DOID_10528 obsolete Haemophilus influenzae infectious disease http://purl.obolibrary.org/obo/UBERON_0000341 throat http://purl.obolibrary.org/obo/UBERON_0034929 external soft tissue zone http://purl.obolibrary.org/obo/DOID_10529 obsolete primary Haemophilus infectious disease http://purl.obolibrary.org/obo/UBERON_0019243 skin crease http://purl.obolibrary.org/obo/UBERON_3000961 external integument structure http://purl.obolibrary.org/obo/DOID_1053 obsolete developmental dislocation of joint http://purl.obolibrary.org/obo/NCBITaxon_59201 Salmonella enterica subsp. enterica http://purl.obolibrary.org/obo/NCBITaxon_28901 Salmonella enterica http://purl.obolibrary.org/obo/DOID_10537 obsolete recurrent malignant gastric neoplasm http://purl.obolibrary.org/obo/NCBITaxon_28901 Salmonella enterica http://purl.obolibrary.org/obo/NCBITaxon_590 Salmonella http://purl.obolibrary.org/obo/DOID_1054 obsolete glaucoma associated with chamber angle anomalies http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/SO_0001260 sequence_collection http://purl.obolibrary.org/obo/DOID_10549 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations http://purl.obolibrary.org/obo/SYMP_0000196 reproductive system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_1055 obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes http://purl.obolibrary.org/obo/SYMP_0000410 neurological and physiological symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/SYMP_0000461 abdominal symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_10557 obsolete maternal distress http://purl.obolibrary.org/obo/SYMP_0000473 nutrition, metabolism, and development symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_10561 obsolete yaws hyperkeratosis http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_10569 obsolete myopathy of critical illness http://purl.obolibrary.org/obo/SYMP_0000486 urinary system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_1057 obsolete inborn amino acid transport disorder http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_10574 obsolete vitamin D deficiency http://purl.obolibrary.org/obo/DOID_1058 obsolete amino acid transport disease http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_10585 obsolete hereditary and idiopathic peripheral neuropathy http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_10594 obsolete idiopathic neuropathy http://purl.obolibrary.org/obo/SYMP_0000597 head and neck symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_10597 obsolete gonococcal meningitis http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/SYMP_0000462 symptom http://purl.obolibrary.org/obo/DOID_10602 obsolete steatorrhea http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_1061 obsolete renal aminoaciduria http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_10621 obsolete Fissure of nipple associated with childbirth http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_10626 obsolete insulin dependent type diabetes mellitus uncontrolled with ketoacidosis http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/DOID_10630 obsolete optic atrophy associated with retinal dystrophy http://purl.obolibrary.org/obo/GENO_0000938 incomplete X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/DOID_10645 obsolete chronic state latent schizophrenia with acute exacerbation http://purl.obolibrary.org/obo/GENO_0000939 co-dominant X-linked inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/DOID_10659 obsolete colonic ganglioneuroma http://purl.obolibrary.org/obo/GENO_0000937 complete X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/DOID_10689 obsolete galactorrhea not associated with childbirth http://purl.obolibrary.org/obo/GENO_0000143 co-dominant autosomal inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/DOID_10708 obsolete passive-aggressive personality disorder http://purl.obolibrary.org/obo/GENO_0000144 complete autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/DOID_10717 obsolete meningococcal septicemia http://purl.obolibrary.org/obo/GENO_0000145 incomplete autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/DOID_10747 obsolete lymphoid leukemia http://purl.obolibrary.org/obo/GENO_0000952 sex-limited autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/DOID_1075 obsolete chronic pyelonephritis with lesion of renal medullary necrosis http://purl.obolibrary.org/obo/GENO_0000953 sex-limited autosomal recessive inheritance http://purl.obolibrary.org/obo/GENO_0000148 autosomal recessive inheritance http://purl.obolibrary.org/obo/DOID_10760 obsolete choroidal rupture http://purl.obolibrary.org/obo/SO_0001745 maternal_uniparental_disomy http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/DOID_10764 obsolete liver abscess and sequelae of chronic liver disease http://purl.obolibrary.org/obo/SO_0001746 paternal_uniparental_disomy http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/DOID_10774 obsolete cutaneous plague http://purl.obolibrary.org/obo/SO_0000199 translocation http://purl.obolibrary.org/obo/SO_0001785 structural_alteration http://purl.obolibrary.org/obo/DOID_10788 obsolete osteitis condensans http://purl.obolibrary.org/obo/HP_0012758 Neurodevelopmental delay http://purl.obolibrary.org/obo/HP_0012759 Neurodevelopmental abnormality http://purl.obolibrary.org/obo/DOID_10795 obsolete congenital syphilitic encephalitis http://purl.obolibrary.org/obo/HP_0033353 Abnormal blood vessel morphology http://purl.obolibrary.org/obo/HP_0025015 Abnormal vascular morphology http://purl.obolibrary.org/obo/DOID_10803 obsolete Haemophilus influenzae meningitis http://purl.obolibrary.org/obo/DOID_10815 obsolete recurrent duodenal cancer http://purl.obolibrary.org/obo/HP_0011024 Abnormality of the gastrointestinal tract http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/DOID_10818 obsolete leptospiral meningitis http://purl.obolibrary.org/obo/HP_0025033 Abnormal digestive system morphology http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system http://purl.obolibrary.org/obo/DOID_10827 obsolete gender identity disorder in adolescent or adult http://purl.obolibrary.org/obo/HP_0000975 Hyperhidrosis http://purl.obolibrary.org/obo/HP_0025276 Abnormality of skin adnexa physiology http://purl.obolibrary.org/obo/HP_0010468 Aplasia/Hypoplasia of the testes http://purl.obolibrary.org/obo/HP_0045058 Abnormality of the testis size http://purl.obolibrary.org/obo/DOID_10836 obsolete diabetes mellitus with hyperosmolarity http://purl.obolibrary.org/obo/DOID_10837 obsolete diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled http://purl.obolibrary.org/obo/HP_0032120 Abnormal peripheral nervous system physiology http://purl.obolibrary.org/obo/HP_0410008 Abnormality of the peripheral nervous system http://purl.obolibrary.org/obo/DOID_10838 obsolete diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled http://purl.obolibrary.org/obo/DOID_10848 obsolete intrauterine hypoxia and birth asphyxia http://purl.obolibrary.org/obo/SO_0000055 hyperploid http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/DOID_1086 obsolete congenital chromosomal disease http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/SO_0000240 chromosome_variation http://purl.obolibrary.org/obo/DOID_10875 obsolete premature labor http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/DOID_10877 obsolete disorganized type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/DOID_10901 obsolete leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_10918 obsolete transsexuality with asexual history http://purl.obolibrary.org/obo/SO_0002219 functionally_normal http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_10922 obsolete sickle-cell crisis http://purl.obolibrary.org/obo/SO_0002220 function_uncertain_variant http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_10924 obsolete catatonic type schizophrenia chronic state http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_10925 obsolete catatonic schizophrenia http://purl.obolibrary.org/obo/DOID_1097 obsolete hydrops fetalis http://purl.obolibrary.org/obo/SO_0002318 altered_gene_product_sequence http://purl.obolibrary.org/obo/SO_0001536 functional_effect_variant http://purl.obolibrary.org/obo/DOID_10998 obsolete chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/DOID_11000 obsolete progressive iris atrophy http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_11001 obsolete Iris and ciliary body degeneration http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_11002 obsolete Iridoschisis http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_11003 obsolete pupillary margin miotic cyst http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_11005 obsolete Atrophy of sphincter of iris http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_11018 obsolete postsurgical testicular hypofunction http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/SO_0001537 structural_variant http://purl.obolibrary.org/obo/DOID_11019 obsolete testicular dysfunction http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/DOID_11020 obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/DOID_11027 obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/DOID_1103 obsolete malignant esophageal neoplasm by topographic region http://purl.obolibrary.org/obo/SO_0001549 transcription_variant http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/DOID_1105 obsolete esophageal metastasis http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/DOID_11056 obsolete Pasteurella hemorrhagic septicemia http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/DOID_11074 obsolete cyst of thyroid http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/DOID_1109 obsolete extracutaneous melanoma http://purl.obolibrary.org/obo/SO_0001602 complex_change_of_translational_product_variant http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/DOID_11091 obsolete perinatal respiratory disorder http://purl.obolibrary.org/obo/SO_0001541 decreased_transcript_level_variant http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/DOID_11096 obsolete renal syphilis http://purl.obolibrary.org/obo/SO_0001542 increased_transcript_level_variant http://purl.obolibrary.org/obo/SO_0001540 level_of_transcript_variant http://purl.obolibrary.org/obo/DOID_11099 obsolete primary Rickettsiaceae infectious disease http://purl.obolibrary.org/obo/SO_0001544 editing_variant http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/DOID_1110 obsolete gastrointestinal melanoma http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001543 transcript_processing_variant http://purl.obolibrary.org/obo/DOID_11106 obsolete glaucoma associated with anterior segment anomaly http://purl.obolibrary.org/obo/SO_0001802 increased_polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/DOID_11107 obsolete glaucoma associated with ocular disorder http://purl.obolibrary.org/obo/SO_0001803 decreased_polyadenylation_variant http://purl.obolibrary.org/obo/SO_0001545 polyadenylation_variant http://purl.obolibrary.org/obo/DOID_1111 obsolete malignant neoplasm of cervical part of esophagus http://purl.obolibrary.org/obo/SO_0001547 decreased_transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/DOID_11110 obsolete psychosexual dysfunction with female orgasmic disease http://purl.obolibrary.org/obo/SO_0001548 increased_transcript_stability_variant http://purl.obolibrary.org/obo/SO_0001546 transcript_stability_variant http://purl.obolibrary.org/obo/DOID_11118 obsolete syphilitic retrobulbar neuritis http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/SO_0001549 transcription_variant http://purl.obolibrary.org/obo/DOID_1112 obsolete neck cancer http://purl.obolibrary.org/obo/SO_0001551 increased_transcription_rate_variant http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/DOID_1113 obsolete malignant esophageal neoplasm by anatomic region http://purl.obolibrary.org/obo/SO_0001552 decreased_transcription_rate_variant http://purl.obolibrary.org/obo/SO_0001550 rate_of_transcription_variant http://purl.obolibrary.org/obo/DOID_11144 obsolete anthrax septicemia http://purl.obolibrary.org/obo/SO_0001555 decreased_translational_product_level http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/DOID_11145 obsolete Pars plana primary cyst http://purl.obolibrary.org/obo/SO_0001556 increased_translational_product_level http://purl.obolibrary.org/obo/SO_0001553 translational_product_level_variant http://purl.obolibrary.org/obo/DOID_11147 obsolete vascular lesions of cord complicating labor and delivery http://purl.obolibrary.org/obo/SO_0001557 polypeptide_gain_of_function_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_11150 obsolete glaucoma due to raised episcleral venous pressure http://purl.obolibrary.org/obo/SO_0001558 polypeptide_localization_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_11158 obsolete disorder of optic chiasm associated with non-pituitary neoplasm http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_11163 obsolete apnea of prematurity http://purl.obolibrary.org/obo/SO_0001562 polypeptide_post_translational_processing_variant http://purl.obolibrary.org/obo/SO_0001554 polypeptide_function_variant http://purl.obolibrary.org/obo/DOID_11183 obsolete Haemophilus influenzae septicemia http://purl.obolibrary.org/obo/SO_0001560 inactive_ligand_binding_site http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/DOID_1119 obsolete large for dates affecting management of mother http://purl.obolibrary.org/obo/SO_0001561 polypeptide_partial_loss_of_function http://purl.obolibrary.org/obo/SO_0001559 polypeptide_loss_of_function_variant http://purl.obolibrary.org/obo/DOID_11215 obsolete premature rupture of the fetal membranes http://purl.obolibrary.org/obo/SO_0001618 inactive_catalytic_site http://purl.obolibrary.org/obo/SO_0001560 inactive_ligand_binding_site http://purl.obolibrary.org/obo/DOID_1122 obsolete spinal enthesopathy http://purl.obolibrary.org/obo/SO_0001911 copy_number_increase http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/DOID_11248 obsolete hemorrhagic disease of newborn http://purl.obolibrary.org/obo/SO_0001912 copy_number_decrease http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/DOID_11264 obsolete Chlamydophila infectious disease http://purl.obolibrary.org/obo/SO_0001598 translational_product_structure_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/DOID_11268 obsolete vitamin A deficiency with keratomalacia http://purl.obolibrary.org/obo/SO_0002152 genic_downstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/DOID_11271 obsolete hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium http://purl.obolibrary.org/obo/SO_0002153 genic_upstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/DOID_11275 obsolete muscle syphilis http://purl.obolibrary.org/obo/SO_0002085 unidirectional_gene_fusion http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/DOID_11284 obsolete disseminated scars of retina http://purl.obolibrary.org/obo/SO_0002086 bidirectional_gene_fusion http://purl.obolibrary.org/obo/SO_0001565 gene_fusion http://purl.obolibrary.org/obo/DOID_11286 obsolete neuromuscular junction toxic disorder http://purl.obolibrary.org/obo/SO_0001782 TF_binding_site_variant http://purl.obolibrary.org/obo/SO_0001566 regulatory_region_variant http://purl.obolibrary.org/obo/DOID_11287 obsolete conditions involving the integument and temperature regulation of fetus and newborn http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_113 obsolete pneumopericardium http://purl.obolibrary.org/obo/SO_0001572 exon_loss_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_11307 obsolete subchronic state latent schizophrenia with acute exacerbation http://purl.obolibrary.org/obo/SO_0001573 intron_gain_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_11308 obsolete latent schizophrenia in remission http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/DOID_11309 obsolete chronic latent schizophrenia http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_11327 obsolete acute schizophrenic episode subchronic state with acute exacerbation http://purl.obolibrary.org/obo/SO_0001995 extended_intronic_splice_region_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_11346 obsolete congenital osteodystrophy http://purl.obolibrary.org/obo/SO_0002169 splice_polypyrimidine_tract_variant http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/DOID_11347 obsolete Meniere's disease in remission http://purl.obolibrary.org/obo/SO_0001570 cryptic_splice_acceptor http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/SO_0001571 cryptic_splice_donor http://purl.obolibrary.org/obo/SO_0001569 cryptic_splice_site_variant http://purl.obolibrary.org/obo/DOID_11349 obsolete epilepsia partialis continua http://purl.obolibrary.org/obo/SO_0002327 splice_acceptor_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/DOID_11350 obsolete grand mal status epilepticus http://purl.obolibrary.org/obo/SO_0002328 splice_acceptor_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/DOID_11352 obsolete epilepsia partialis continua with intractable epilepsy http://purl.obolibrary.org/obo/SO_0002325 splice_donor_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/DOID_11361 obsolete tickborne fever http://purl.obolibrary.org/obo/SO_0002326 splice_donor_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/DOID_11377 obsolete calculus of gallbladder and bile duct with acute cholecystitis http://purl.obolibrary.org/obo/SO_0001568 splicing_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_11403 obsolete depressive state induced by drug http://purl.obolibrary.org/obo/SO_0001577 complex_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_11409 obsolete syphilitic disseminated chorioretinitis http://purl.obolibrary.org/obo/DOID_1141 obsolete alternating exotropia with V pattern http://purl.obolibrary.org/obo/SO_0001596 transcript_secondary_structure_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_11421 obsolete acquired cavovarus foot deformity http://purl.obolibrary.org/obo/SO_0001619 non_coding_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_11436 obsolete recurrent cholesteatoma post-mastoidectomy http://purl.obolibrary.org/obo/SO_0001621 NMD_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_11441 obsolete macrodactylia of toes http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_11442 obsolete malignant mast cell tumors involving lymph node of head http://purl.obolibrary.org/obo/SO_0001791 exon_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_11451 obsolete secondary syphilitic meningitis http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_11489 obsolete vitamin A deficiency with conjunctival xerosis and Bitot's spot http://purl.obolibrary.org/obo/SO_0002011 intragenic_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_11490 obsolete vitamin A deficiency with night blindness http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_1150 obsolete bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/SO_0001576 transcript_variant http://purl.obolibrary.org/obo/DOID_11524 obsolete Hyphema of iris and ciliary body http://purl.obolibrary.org/obo/SO_0001582 initiator_codon_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/DOID_11525 obsolete Iris and ciliary body vascular disorder http://purl.obolibrary.org/obo/SO_0001590 terminator_codon_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/DOID_11535 obsolete dysplasia of prostate http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/DOID_11575 obsolete pneumococcal meningitis http://purl.obolibrary.org/obo/DOID_11578 obsolete Escherichia coli meningitis http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/SO_0002012 start_lost http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/DOID_11582 obsolete syphilitic aortitis http://purl.obolibrary.org/obo/DOID_11584 obsolete acute schizophrenic episode in remission http://purl.obolibrary.org/obo/SO_0002019 start_retained_variant http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/DOID_11597 obsolete cold injury syndrome of newborn http://purl.obolibrary.org/obo/SO_0001585 conservative_missense_variant http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/DOID_11600 obsolete secondary malignant neoplasm of lymph nodes of multiple site http://purl.obolibrary.org/obo/DOID_11604 obsolete idiopathic hydrops fetalis http://purl.obolibrary.org/obo/SO_0001586 non_conservative_missense_variant http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/DOID_11606 obsolete ileal disease http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/SO_0001586 non_conservative_missense_variant http://purl.obolibrary.org/obo/DOID_11649 obsolete transitory tachypnea of newborn http://purl.obolibrary.org/obo/SO_0002321 stop_gained_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/DOID_11654 obsolete nevus of ota http://purl.obolibrary.org/obo/SO_0002322 stop_gained_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/DOID_11662 obsolete color vision defect http://purl.obolibrary.org/obo/SO_0001591 frame_restoring_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_11683 obsolete glaucoma associated with systemic syndromes http://purl.obolibrary.org/obo/DOID_11696 obsolete chronic hypomanic disorder http://purl.obolibrary.org/obo/SO_0001592 minus_1_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_11705 obsolete impaired renal function disease http://purl.obolibrary.org/obo/SO_0001593 minus_2_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_11711 obsolete Pregnancy in Diabetics http://purl.obolibrary.org/obo/SO_0001594 plus_1_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/DOID_11730 obsolete Borrelia infectious disease http://purl.obolibrary.org/obo/SO_0001595 plus_2_frameshift_variant http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/SO_0001909 frameshift_elongation http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/DOID_11732 obsolete syphilitic myocarditis http://purl.obolibrary.org/obo/DOID_11733 obsolete syphilitic aortic aneurysm http://purl.obolibrary.org/obo/DOID_11734 obsolete syphilitic pericarditis http://purl.obolibrary.org/obo/SO_0001910 frameshift_truncation http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/DOID_11735 obsolete single manic episode in full remission http://purl.obolibrary.org/obo/DOID_11753 obsolete biliary calculus with acute cholecystitis http://purl.obolibrary.org/obo/DOID_11756 obsolete calculus of bile duct with acute cholecystitis http://purl.obolibrary.org/obo/DOID_11770 obsolete hypersecretion of testicular hormones http://purl.obolibrary.org/obo/SO_0002323 frameshift_variant_NMD_triggering http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/DOID_11775 obsolete hereditary trophedema http://purl.obolibrary.org/obo/SO_0002324 frameshift_variant_NMD_escaping http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/DOID_11802 obsolete protein deficiency http://purl.obolibrary.org/obo/SO_0001567 stop_retained_variant http://purl.obolibrary.org/obo/SO_0001819 synonymous_variant http://purl.obolibrary.org/obo/DOID_11806 obsolete macrodactylia of fingers http://purl.obolibrary.org/obo/SO_0001578 stop_lost http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/DOID_11810 obsolete metastatic neoplasm to the bladder http://purl.obolibrary.org/obo/SO_0001626 incomplete_terminal_codon_variant http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/DOID_11815 obsolete recurrent malignant bladder neoplasm http://purl.obolibrary.org/obo/SO_0001597 compensatory_transcript_secondary_structure_variant http://purl.obolibrary.org/obo/SO_0001596 transcript_secondary_structure_variant http://purl.obolibrary.org/obo/DOID_11828 obsolete visual cortex disorder due to vascular disorder http://purl.obolibrary.org/obo/DOID_1183 obsolete nephrotic syndrome with lesion of membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/SO_0001598 translational_product_structure_variant http://purl.obolibrary.org/obo/DOID_11837 obsolete malignant neoplasm of scapula and long bones of upper limb http://purl.obolibrary.org/obo/DOID_11849 obsolete degenerative changes of ciliary body http://purl.obolibrary.org/obo/SO_0001600 complex_3D_structural_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/DOID_11852 obsolete aortic valve syphilitic endocarditis http://purl.obolibrary.org/obo/SO_0001601 conformational_change_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/DOID_11854 obsolete monocular exotropia with A pattern http://purl.obolibrary.org/obo/DOID_11855 obsolete intermittent monocular exotropia http://purl.obolibrary.org/obo/DOID_11856 obsolete monocular exotropia with V pattern http://purl.obolibrary.org/obo/SO_0002093 structural_interaction_variant http://purl.obolibrary.org/obo/SO_0001599 3D_polypeptide_structure_variant http://purl.obolibrary.org/obo/DOID_11861 obsolete prolonged pregnancy http://purl.obolibrary.org/obo/SO_0001604 amino_acid_deletion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_11862 obsolete late pregnancy http://purl.obolibrary.org/obo/SO_0001605 amino_acid_insertion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_11868 obsolete chronic erythremia http://purl.obolibrary.org/obo/DOID_11872 obsolete Staphylococcus aureus septicemia http://purl.obolibrary.org/obo/DOID_11873 obsolete staphylococcal septicemia http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_11939 obsolete schizo-affective type schizophrenia subchronic state http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_11946 obsolete habitual abortion http://purl.obolibrary.org/obo/SO_0001616 polypeptide_fusion http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/DOID_11947 obsolete recurrent major depression in complete remission http://purl.obolibrary.org/obo/DOID_11950 obsolete Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/SO_0001617 polypeptide_truncation http://purl.obolibrary.org/obo/SO_0001603 polypeptide_sequence_variant http://purl.obolibrary.org/obo/SO_0001607 conservative_amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001608 non_conservative_amino_acid_substitution http://purl.obolibrary.org/obo/SO_0001606 amino_acid_substitution http://purl.obolibrary.org/obo/DOID_11952 obsolete Congenital cardiovascular disorder of mother, with delivery http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/DOID_11954 obsolete psychosexual dysfunction with inhibited sexual excitement http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/SO_0001609 elongated_polypeptide http://purl.obolibrary.org/obo/DOID_11955 obsolete malnutrition of moderate degree http://purl.obolibrary.org/obo/SO_0001612 elongated_in_frame_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/DOID_11970 obsolete symptomatic menopausal or female climacteric state http://purl.obolibrary.org/obo/SO_0001613 elongated_out_of_frame_polypeptide_C_terminal http://purl.obolibrary.org/obo/SO_0001610 elongated_polypeptide_C_terminal http://purl.obolibrary.org/obo/DOID_11977 obsolete disorder of magnesium metabolism http://purl.obolibrary.org/obo/SO_0001614 elongated_in_frame_polypeptide_N_terminal_elongation http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/DOID_11978 obsolete chronic pyelonephritis without lesion of renal medullary necrosis http://purl.obolibrary.org/obo/SO_0001615 elongated_out_of_frame_polypeptide_N_terminal http://purl.obolibrary.org/obo/SO_0001611 elongated_polypeptide_N_terminal http://purl.obolibrary.org/obo/DOID_11987 obsolete anorectal gonorrhea http://purl.obolibrary.org/obo/SO_0001620 mature_miRNA_variant http://purl.obolibrary.org/obo/SO_0001619 non_coding_transcript_variant http://purl.obolibrary.org/obo/DOID_12000 obsolete secondary malignant neoplasm of trachea http://purl.obolibrary.org/obo/SO_0001792 non_coding_transcript_exon_variant http://purl.obolibrary.org/obo/SO_0001791 exon_variant http://purl.obolibrary.org/obo/DOID_12020 obsolete malignant neoplasm of corpus uteri, except isthmus http://purl.obolibrary.org/obo/SO_0001970 non_coding_transcript_intron_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/SO_0002088 non_coding_transcript_splice_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/DOID_12021 obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/DOID_12022 obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/DOID_1204 obsolete arthropathy due to hypersensitivity reaction http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_12040 obsolete immune hydrops fetalis http://purl.obolibrary.org/obo/SO_0002013 5_prime_UTR_truncation http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0002014 5_prime_UTR_elongation http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0002091 5_prime_UTR_intron_variant http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/SO_0002092 5_prime_UTR_exon_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/SO_0001623 5_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_12056 obsolete meningitis with clear cerebrospinal fluid http://purl.obolibrary.org/obo/DOID_12058 obsolete Fetal-maternal hemorrhage affecting management of mother http://purl.obolibrary.org/obo/DOID_12061 obsolete fetal blood loss http://purl.obolibrary.org/obo/DOID_12065 obsolete ganglioneuroma of the mediastinum http://purl.obolibrary.org/obo/SO_0002015 3_prime_UTR_truncation http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0002016 3_prime_UTR_elongation http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/DOID_12076 obsolete interstitial emphysema and related conditions of newborn http://purl.obolibrary.org/obo/SO_0002089 3_prime_UTR_exon_variant http://purl.obolibrary.org/obo/SO_0001624 3_prime_UTR_variant http://purl.obolibrary.org/obo/SO_0002090 3_prime_UTR_intron_variant http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/DOID_12091 obsolete vitamin A deficiency with corneal xerosis http://purl.obolibrary.org/obo/SO_0001969 coding_transcript_intron_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/SO_0002018 conserved_intron_variant http://purl.obolibrary.org/obo/SO_0001627 intron_variant http://purl.obolibrary.org/obo/DOID_12092 obsolete Galactorrhea associated with childbirth http://purl.obolibrary.org/obo/SO_0001574 splice_acceptor_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/DOID_12097 obsolete rat-bite fever http://purl.obolibrary.org/obo/SO_0001575 splice_donor_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/DOID_12104 obsolete vitamin A deficiency with corneal xerosis and ulcer http://purl.obolibrary.org/obo/SO_0001787 splice_donor_5th_base_variant http://purl.obolibrary.org/obo/SO_0001629 splice_site_variant http://purl.obolibrary.org/obo/DOID_12106 obsolete tricuspid valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_12107 obsolete primary retinal cyst http://purl.obolibrary.org/obo/SO_0002084 exonic_splice_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/DOID_12111 obsolete vitamin A deficiency with xerophthalmic corneal scar http://purl.obolibrary.org/obo/SO_0002170 splice_donor_region_variant http://purl.obolibrary.org/obo/SO_0001630 splice_region_variant http://purl.obolibrary.org/obo/SO_0001635 5KB_upstream_variant http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/DOID_12113 obsolete nerve deafness http://purl.obolibrary.org/obo/DOID_12121 obsolete secondary syphilitic periostitis http://purl.obolibrary.org/obo/SO_0001636 2KB_upstream_variant http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/DOID_1213 obsolete Tympanosclerosis of tympanic membrane and ossicles http://purl.obolibrary.org/obo/SO_0001633 5KB_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/DOID_12135 obsolete acquired factor VIII deficiency http://purl.obolibrary.org/obo/SO_0001634 500B_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/DOID_12136 obsolete acquired coagulation factor deficiency http://purl.obolibrary.org/obo/SO_0002083 2KB_downstream_variant http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/DOID_1215 obsolete Tympanosclerosis of tympanic membrane only http://purl.obolibrary.org/obo/SO_0001820 inframe_indel http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/DOID_12150 obsolete calculus of gallbladder with acute cholecystitis, with obstruction http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/DOID_12151 obsolete currently pregnant habitual aborter http://purl.obolibrary.org/obo/SO_0001775 maternal_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/SO_0001776 paternal_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/DOID_12180 obsolete Fetal Macrosomia http://purl.obolibrary.org/obo/SO_0001777 somatic_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/DOID_12189 obsolete metastatic tumor to the colon http://purl.obolibrary.org/obo/DOID_12204 obsolete catatonic schizophrenia in remission http://purl.obolibrary.org/obo/SO_0001778 germline_variant http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/DOID_12221 obsolete Synovial, tendon or bursa disorder http://purl.obolibrary.org/obo/SO_0001580 coding_sequence_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/SO_0001622 UTR_variant http://purl.obolibrary.org/obo/SO_0001968 coding_transcript_variant http://purl.obolibrary.org/obo/DOID_12223 obsolete specific bursitis often of occupational origin http://purl.obolibrary.org/obo/SO_0001589 frameshift_variant http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/DOID_12224 obsolete calcium deposits in tendon and bursa http://purl.obolibrary.org/obo/SO_0001650 inframe_variant http://purl.obolibrary.org/obo/SO_0001818 protein_altering_variant http://purl.obolibrary.org/obo/DOID_12226 obsolete hearing disease http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/DOID_12228 obsolete secondary malignant neoplasm of large intestine and rectum http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/DOID_12251 obsolete hypoaldosteronism http://purl.obolibrary.org/obo/SO_0001823 conservative_inframe_insertion http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/DOID_12254 obsolete metastatic tumor to the testis http://purl.obolibrary.org/obo/SO_0001824 disruptive_inframe_insertion http://purl.obolibrary.org/obo/SO_0001821 inframe_insertion http://purl.obolibrary.org/obo/DOID_12255 obsolete congenital adrenal hyperplasia http://purl.obolibrary.org/obo/SO_0001825 conservative_inframe_deletion http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/DOID_12256 obsolete adrenogenital disease http://purl.obolibrary.org/obo/SO_0001826 disruptive_inframe_deletion http://purl.obolibrary.org/obo/SO_0001822 inframe_deletion http://purl.obolibrary.org/obo/DOID_12258 obsolete acquired factor IX deficiency http://purl.obolibrary.org/obo/SO_0001017 silent_mutation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/DOID_12268 obsolete eclampsia with delivery http://purl.obolibrary.org/obo/SO_0001564 gene_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/DOID_12269 obsolete Toxemia with convulsions complicating pregnancy, childbirth or the puerperium http://purl.obolibrary.org/obo/SO_0001566 regulatory_region_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/DOID_12274 obsolete anisometropia and aniseikonia http://purl.obolibrary.org/obo/DOID_1228 obsolete paranoid type schizophrenia in remission http://purl.obolibrary.org/obo/SO_0001906 feature_truncation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/SO_0001907 feature_elongation http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/DOID_12284 obsolete maternal pyrexia in labor http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/SO_0001878 feature_variant http://purl.obolibrary.org/obo/DOID_12292 obsolete recurrent malignant endocervical neoplasm http://purl.obolibrary.org/obo/SO_0001893 transcript_ablation http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/SO_0001894 regulatory_region_ablation http://purl.obolibrary.org/obo/SO_0001879 feature_ablation http://purl.obolibrary.org/obo/SO_0001889 transcript_amplification http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/DOID_12301 obsolete speckled lentiginous nevus http://purl.obolibrary.org/obo/DOID_1231 obsolete chronic schizophrenia http://purl.obolibrary.org/obo/SO_0001891 regulatory_region_amplification http://purl.obolibrary.org/obo/SO_0001880 feature_amplification http://purl.obolibrary.org/obo/SO_0001883 transcript_translocation http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/DOID_1232 obsolete paranoid type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/SO_0001884 regulatory_region_translocation http://purl.obolibrary.org/obo/SO_0001881 feature_translocation http://purl.obolibrary.org/obo/DOID_12324 obsolete transsexuality with homosexual history http://purl.obolibrary.org/obo/SO_0001886 transcript_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/DOID_12338 obsolete redundant prepuce and phimosis http://purl.obolibrary.org/obo/DOID_12346 obsolete hyperkinetic heart syndrome http://purl.obolibrary.org/obo/SO_0001887 regulatory_region_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/SO_0001890 transcript_regulatory_region_fusion http://purl.obolibrary.org/obo/SO_0001882 feature_fusion http://purl.obolibrary.org/obo/DOID_12356 obsolete bacterial prostatitis http://purl.obolibrary.org/obo/SO_0001885 TFBS_translocation http://purl.obolibrary.org/obo/SO_0001884 regulatory_region_translocation http://purl.obolibrary.org/obo/SO_0001888 TFBS_fusion http://purl.obolibrary.org/obo/SO_0001887 regulatory_region_fusion http://purl.obolibrary.org/obo/DOID_12378 obsolete predominant psychomotor disturbance http://purl.obolibrary.org/obo/SO_0001892 TFBS_amplification http://purl.obolibrary.org/obo/SO_0001891 regulatory_region_amplification http://purl.obolibrary.org/obo/DOID_12379 obsolete mixed disorder as reaction to stress http://purl.obolibrary.org/obo/SO_0001895 TFBS_ablation http://purl.obolibrary.org/obo/SO_0001894 regulatory_region_ablation http://purl.obolibrary.org/obo/DOID_1238 obsolete acute erythremia and erythroleukemia in remission http://purl.obolibrary.org/obo/SO_0001587 stop_gained http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/DOID_12380 obsolete predominant disturbance of consciousness http://purl.obolibrary.org/obo/DOID_1239 obsolete acute erythremia and erythroleukemia http://purl.obolibrary.org/obo/SO_0001908 internal_feature_elongation http://purl.obolibrary.org/obo/SO_0001907 feature_elongation http://purl.obolibrary.org/obo/DOID_12392 obsolete leukemic reticuloendotheliosis involving lymph nodes of head, face and neck http://purl.obolibrary.org/obo/SO_0001988 5_prime_UTR_premature_start_codon_gain_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/DOID_12396 obsolete entropion and trichiasis of eyelid http://purl.obolibrary.org/obo/SO_0001989 5_prime_UTR_premature_start_codon_loss_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/DOID_12417 obsolete psychogenic dysmenorrhea http://purl.obolibrary.org/obo/SO_0001990 five_prime_UTR_premature_start_codon_location_variant http://purl.obolibrary.org/obo/SO_0001983 5_prime_UTR_premature_start_codon_variant http://purl.obolibrary.org/obo/DOID_12448 obsolete hematologic pregnancy complication http://purl.obolibrary.org/obo/SO_0001583 missense_variant http://purl.obolibrary.org/obo/SO_0001992 nonsynonymous_variant http://purl.obolibrary.org/obo/DOID_1249 obsolete Conjunctival vascular disorder and cysts http://purl.obolibrary.org/obo/SO_0002009 selenocysteine_loss http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/DOID_12508 obsolete simple type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/SO_0002010 pyrrolysine_loss http://purl.obolibrary.org/obo/SO_0002008 rare_amino_acid_variant http://purl.obolibrary.org/obo/SO_0002317 absent_gene_product http://purl.obolibrary.org/obo/SO_0002316 decreased_gene_product_level http://purl.obolibrary.org/obo/SO_0002076 incomplete_transcript_3UTR_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/DOID_12525 obsolete Lateral cutaneous femoral nerve of thigh compression or syndrome http://purl.obolibrary.org/obo/DOID_12538 obsolete Chlamydia trachomatis pharyngitis http://purl.obolibrary.org/obo/SO_0002077 incomplete_transcript_5UTR_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/DOID_12539 obsolete Chlamydia trachomatis proctitis http://purl.obolibrary.org/obo/SO_0002078 incomplete_transcript_intronic_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/DOID_12541 obsolete catatonic type schizophrenia subchronic state http://purl.obolibrary.org/obo/SO_0002079 incomplete_transcript_splice_region_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/DOID_12542 obsolete catatonic type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/SO_0002080 incomplete_transcript_exonic_variant http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/DOID_12543 obsolete catatonic type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/SO_0002081 incomplete_transcript_CDS http://purl.obolibrary.org/obo/SO_0002075 incomplete_transcript_variant http://purl.obolibrary.org/obo/DOID_12551 obsolete Escherichia coli septicemia http://purl.obolibrary.org/obo/DOID_12555 obsolete acute renal failure with lesion of renal cortical necrosis http://purl.obolibrary.org/obo/SO_0002082 incomplete_transcript_coding_splice_variant http://purl.obolibrary.org/obo/SO_0002079 incomplete_transcript_splice_region_variant http://purl.obolibrary.org/obo/DOID_1257 obsolete Transient hypertension of pregnancy http://purl.obolibrary.org/obo/DOID_12582 obsolete enthesopathy of elbow http://purl.obolibrary.org/obo/DOID_12584 obsolete Diabetes mellitus of mother, with delivery http://purl.obolibrary.org/obo/DOID_12604 obsolete secondary malignant neoplasm of suprarenal gland http://purl.obolibrary.org/obo/SO_1000029 chromosomal_deletion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/DOID_12605 obsolete metastasis to adrenals http://purl.obolibrary.org/obo/SO_1000030 chromosomal_inversion http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/DOID_1261 obsolete AIDS-related pelvic inflammatory disease http://purl.obolibrary.org/obo/SO_1000045 ring_chromosome http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/DOID_12610 obsolete adrenal hemorrhage of fetus or newborn http://purl.obolibrary.org/obo/SO_0002060 interchromosomal_translocation http://purl.obolibrary.org/obo/SO_1000044 chromosomal_translocation http://purl.obolibrary.org/obo/DOID_12612 obsolete gastrointestinal hemorrhage of fetus or newborn http://purl.obolibrary.org/obo/SO_1000028 intrachromosomal_mutation http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/DOID_12647 obsolete Congenital or acquired abnormality of vulva, with delivery http://purl.obolibrary.org/obo/SO_1000037 chromosomal_duplication http://purl.obolibrary.org/obo/SO_1000183 chromosome_structure_variation http://purl.obolibrary.org/obo/DOID_12651 obsolete disorder of optic chiasm associated with inflammatory disorder http://purl.obolibrary.org/obo/SO_1000044 chromosomal_translocation http://purl.obolibrary.org/obo/SO_0000199 translocation http://purl.obolibrary.org/obo/DOID_12670 obsolete fusion with defective stereopsis http://purl.obolibrary.org/obo/SYMP_0000195 abnormal hemiwalking hemistanding http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/DOID_1269 obsolete thyroid gland tuberculosis http://purl.obolibrary.org/obo/SYMP_0000670 abnormal hemiwalking http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/DOID_12694 obsolete hyperemesis gravidarum with metabolic disturbance http://purl.obolibrary.org/obo/SYMP_0000190 wheelbarrowing http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/DOID_12702 obsolete Rotator cuff shoulder syndrome and allied disorder http://purl.obolibrary.org/obo/SYMP_0000669 abnormal hemistanding http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/DOID_12713 obsolete medullary sponge kidney http://purl.obolibrary.org/obo/NCBITaxon_73230 [Emmonsia] crescens http://purl.obolibrary.org/obo/NCBITaxon_1955773 Emergomyces http://purl.obolibrary.org/obo/DOID_12715 obsolete infectious myositis http://purl.obolibrary.org/obo/NCBITaxon_337687 Muroidea http://purl.obolibrary.org/obo/NCBITaxon_1963758 Myomorpha http://purl.obolibrary.org/obo/DOID_12722 obsolete liver metastasis http://purl.obolibrary.org/obo/UBERON_0016566 pit http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/DOID_12723 obsolete lung carcinoma metastatic to the liver http://purl.obolibrary.org/obo/NCBITaxon_6246 Strongyloididae http://purl.obolibrary.org/obo/NCBITaxon_2082224 Strongyloidoidea http://purl.obolibrary.org/obo/DOID_12724 obsolete breast arcinoma metastatic to the liver http://purl.obolibrary.org/obo/NCBITaxon_60516 Dibothriocephalus latus http://purl.obolibrary.org/obo/NCBITaxon_2267273 Dibothriocephalus http://purl.obolibrary.org/obo/DOID_12727 obsolete retroverted incarcerated gravid uterus http://purl.obolibrary.org/obo/CHEBI_53662 biguanides http://purl.obolibrary.org/obo/CHEBI_24436 guanidines http://purl.obolibrary.org/obo/DOID_12758 obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid http://purl.obolibrary.org/obo/CHEBI_55373 isoxazoles http://purl.obolibrary.org/obo/CHEBI_35790 oxazole http://purl.obolibrary.org/obo/DOID_12784 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations http://purl.obolibrary.org/obo/CHEBI_26401 purines http://purl.obolibrary.org/obo/CHEBI_35875 imidazopyrimidine http://purl.obolibrary.org/obo/DOID_12796 obsolete Posterior synechiae http://purl.obolibrary.org/obo/CHEBI_22693 barbiturates http://purl.obolibrary.org/obo/CHEBI_38337 pyrimidone http://purl.obolibrary.org/obo/DOID_128 obsolete vaginal soft tissue tumor http://purl.obolibrary.org/obo/CHEBI_33365 platinum group metal atom http://purl.obolibrary.org/obo/CHEBI_27081 transition element atom http://purl.obolibrary.org/obo/DOID_12838 obsolete secondary thyroid hyperplasia http://purl.obolibrary.org/obo/CHEBI_36388 saturated organic heterocyclic parent http://purl.obolibrary.org/obo/CHEBI_35552 heterocyclic organic fundamental parent http://purl.obolibrary.org/obo/DOID_12839 obsolete thyrotoxicosis from ectopic thyroid nodule http://purl.obolibrary.org/obo/CHEBI_36607 cyclic acid anhydride http://purl.obolibrary.org/obo/CHEBI_36606 acid anhydride http://purl.obolibrary.org/obo/DOID_12843 obsolete polyneuritis http://purl.obolibrary.org/obo/CHEBI_53556 toluene 2,4-diisocyanate http://purl.obolibrary.org/obo/CHEBI_53555 toluene meta-diisocyanate http://purl.obolibrary.org/obo/DOID_12852 obsolete adhesions of drum head to incus http://purl.obolibrary.org/obo/SO_0000135 maternally_imprinted http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/DOID_12853 obsolete adhesions of drum head to promontorium http://purl.obolibrary.org/obo/SO_0001762 variant_origin http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/DOID_12854 obsolete adhesions of drum head to stapes http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/DOID_12860 obsolete non-neoplastic nevus of skin http://purl.obolibrary.org/obo/NCBITaxon_5552 Trichosporon http://purl.obolibrary.org/obo/NCBITaxon_1759442 Trichosporonaceae http://purl.obolibrary.org/obo/DOID_12863 obsolete senile nevus http://purl.obolibrary.org/obo/NCBITaxon_333754 Alphapapillomavirus 10 http://purl.obolibrary.org/obo/NCBITaxon_333750 Alphapapillomavirus http://purl.obolibrary.org/obo/DOID_12864 obsolete acrosyringeal nevus http://purl.obolibrary.org/obo/NCBITaxon_32594 Babesiidae http://purl.obolibrary.org/obo/NCBITaxon_5863 Piroplasmida http://purl.obolibrary.org/obo/DOID_12879 obsolete Pars plana exudative cyst http://purl.obolibrary.org/obo/NCBITaxon_31244 Schistosomatoidea http://purl.obolibrary.org/obo/NCBITaxon_6180 Strigeidida http://purl.obolibrary.org/obo/DOID_12881 obsolete idiopathic urticaria http://purl.obolibrary.org/obo/NCBITaxon_27847 Echinostoma http://purl.obolibrary.org/obo/NCBITaxon_99737 Echinostomatidae http://purl.obolibrary.org/obo/DOID_12910 obsolete sickle-cell/Hb-C disease with crisis http://purl.obolibrary.org/obo/NCBITaxon_3052189 Erythroparvovirus primate1 http://purl.obolibrary.org/obo/NCBITaxon_40121 Erythroparvovirus http://purl.obolibrary.org/obo/DOID_12921 obsolete childhood schizophrenia http://purl.obolibrary.org/obo/NCBITaxon_1538075 Malasseziomycetes http://purl.obolibrary.org/obo/NCBITaxon_452284 Ustilaginomycotina http://purl.obolibrary.org/obo/DOID_12922 obsolete acute undifferentiated schizophrenia http://purl.obolibrary.org/obo/NCBITaxon_742845 Malasseziaceae http://purl.obolibrary.org/obo/NCBITaxon_162474 Malasseziales http://purl.obolibrary.org/obo/DOID_12923 obsolete chronic undifferentiated schizophrenia http://purl.obolibrary.org/obo/NCBITaxon_1759442 Trichosporonaceae http://purl.obolibrary.org/obo/NCBITaxon_1851469 Trichosporonales http://purl.obolibrary.org/obo/DOID_12928 obsolete nutritional cardiomyopathy http://purl.obolibrary.org/obo/NCBITaxon_55193 Malassezia http://purl.obolibrary.org/obo/NCBITaxon_742845 Malasseziaceae http://purl.obolibrary.org/obo/DOID_12936 obsolete secondary cardiomyopathy http://purl.obolibrary.org/obo/DOID_12973 obsolete secondary malignant neoplasm of intrapelvic lymph node http://purl.obolibrary.org/obo/DOID_12983 obsolete transient disorder of initiating or maintaining sleep http://purl.obolibrary.org/obo/SYMP_0000531 splenomegaly http://purl.obolibrary.org/obo/SYMP_0000158 spleen symptom http://purl.obolibrary.org/obo/DOID_12985 obsolete functional disorder of polymorphonuclear neutrophils http://purl.obolibrary.org/obo/DOID_130 obsolete female genitalia nevus http://purl.obolibrary.org/obo/DOID_13023 obsolete sickle cell trait http://purl.obolibrary.org/obo/DOID_13040 obsolete syphilitic optic atrophy http://purl.obolibrary.org/obo/DOID_13063 obsolete moderate recurrent major depression http://purl.obolibrary.org/obo/NCBITaxon_629 Yersinia http://purl.obolibrary.org/obo/NCBITaxon_1903411 Yersiniaceae http://purl.obolibrary.org/obo/DOID_13121 obsolete deficiency anemia http://purl.obolibrary.org/obo/NCBITaxon_160148 Troctomorpha http://purl.obolibrary.org/obo/NCBITaxon_1930602 Psocodea http://purl.obolibrary.org/obo/DOID_1314 obsolete wasting syndrome http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980413 Hantaviridae http://purl.obolibrary.org/obo/DOID_13157 obsolete sensory disorder of eyelid http://purl.obolibrary.org/obo/NCBITaxon_1980517 Orthonairovirus http://purl.obolibrary.org/obo/NCBITaxon_1980415 Nairoviridae http://purl.obolibrary.org/obo/DOID_13175 obsolete female genital tuberculosis http://purl.obolibrary.org/obo/NCBITaxon_1980456 Orthohantavirus andesense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_13177 obsolete chronic erythremia in remission http://purl.obolibrary.org/obo/NCBITaxon_3052480 Orthohantavirus hantanense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_13192 obsolete pulmonary congestion and hypostasis http://purl.obolibrary.org/obo/NCBITaxon_3052493 Orthohantavirus puumalaense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_13194 obsolete non-toxic nodular goiter http://purl.obolibrary.org/obo/NCBITaxon_3052498 Orthohantavirus seoulense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_13202 obsolete secondary syphilitic iridocyclitis http://purl.obolibrary.org/obo/NCBITaxon_3431295 Orthohantavirus mamorense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_13211 obsolete secondary malignant neoplasm of brain and spinal cord http://purl.obolibrary.org/obo/NCBITaxon_3052470 Orthohantavirus bayoui http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_13212 obsolete metastasis to skin http://purl.obolibrary.org/obo/NCBITaxon_3052477 Orthohantavirus dobravaense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_13213 obsolete metastatic cancer to the breast http://purl.obolibrary.org/obo/NCBITaxon_3052490 Orthohantavirus nigrorivense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_13219 obsolete transsexuality with heterosexual history http://purl.obolibrary.org/obo/NCBITaxon_3052499 Orthohantavirus sinnombreense http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/DOID_13224 obsolete introverted personality http://purl.obolibrary.org/obo/NCBITaxon_10508 Adenoviridae http://purl.obolibrary.org/obo/NCBITaxon_2732559 Rowavirales http://purl.obolibrary.org/obo/DOID_1323 obsolete malignant neoplasm of trachea, bronchus and lung http://purl.obolibrary.org/obo/NCBITaxon_10293 Alphaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/DOID_13232 obsolete Diffuse cholesteatosis of middle ear and mastoid http://purl.obolibrary.org/obo/NCBITaxon_10357 Betaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/DOID_13253 obsolete jejunal disease http://purl.obolibrary.org/obo/NCBITaxon_10374 Gammaherpesvirinae http://purl.obolibrary.org/obo/NCBITaxon_3044472 Orthoherpesviridae http://purl.obolibrary.org/obo/DOID_13262 obsolete hallucinatory state induced by drug http://purl.obolibrary.org/obo/HP_0004340 Abnormal circulating vitamin B concentration http://purl.obolibrary.org/obo/HP_0020350 Abnormal circulating vitamin concentration http://purl.obolibrary.org/obo/DOID_13315 obsolete relapsing pancreatitis http://purl.obolibrary.org/obo/GENO_0000941 Y-linked inheritance http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/SYMP_0020064 high blood pressure http://purl.obolibrary.org/obo/SYMP_0020063 blood pressure http://purl.obolibrary.org/obo/DOID_13319 obsolete lower limb lymph node mast cell malignancy http://purl.obolibrary.org/obo/SO_0001631 upstream_gene_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_13350 obsolete gender identity disorder in children http://purl.obolibrary.org/obo/SO_0001632 downstream_gene_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_13361 obsolete nephrotic syndrome with lesion of proliferative glomerulonephritis http://purl.obolibrary.org/obo/SO_0001986 upstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_13364 obsolete chronobiology disease http://purl.obolibrary.org/obo/SO_0001987 downstream_transcript_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_13376 obsolete congenital aortic insufficiency http://purl.obolibrary.org/obo/SO_0002017 conserved_intergenic_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_13380 obsolete acute pyelonephritis with lesion of renal medullary necrosis http://purl.obolibrary.org/obo/SO_0002074 intergenic_1kb_variant http://purl.obolibrary.org/obo/SO_0001628 intergenic_variant http://purl.obolibrary.org/obo/DOID_13387 obsolete upper limb cancer http://purl.obolibrary.org/obo/NCBITaxon_11632 Retroviridae http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/DOID_13397 obsolete atypical manic disorder http://purl.obolibrary.org/obo/GENO_0000932 polygenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/DOID_13398 obsolete open angle with borderline glaucoma findings http://purl.obolibrary.org/obo/DOID_13408 obsolete metastasis to pleura http://purl.obolibrary.org/obo/GENO_0000930 digenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/DOID_1341 obsolete congenital anemia http://purl.obolibrary.org/obo/GENO_0000931 oligogenic inheritance http://purl.obolibrary.org/obo/GENO_0000929 multifactorial inheritance http://purl.obolibrary.org/obo/DOID_13416 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder http://purl.obolibrary.org/obo/GENO_0000892 heteroplasmic mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000893 homoplasmic mitochondrial inheritance http://purl.obolibrary.org/obo/GENO_0000949 mitochondrial inheritance http://purl.obolibrary.org/obo/DOID_13468 obsolete primary genital syphilis http://purl.obolibrary.org/obo/NCBITaxon_11072 Japanese encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3048158 Orthoflavivirus japonicum http://purl.obolibrary.org/obo/DOID_13469 obsolete secondary cutaneous syphilis http://purl.obolibrary.org/obo/NCBITaxon_11086 Louping ill virus http://purl.obolibrary.org/obo/NCBITaxon_3048184 Orthoflavivirus loupingi http://purl.obolibrary.org/obo/DOID_13471 obsolete secondary syphilitic lymphadenitis http://purl.obolibrary.org/obo/NCBITaxon_11079 Murray Valley encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3048215 Orthoflavivirus murrayense http://purl.obolibrary.org/obo/DOID_13480 obsolete paranoid type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/NCBITaxon_11083 Powassan virus http://purl.obolibrary.org/obo/NCBITaxon_3048287 Orthoflavivirus powassanense http://purl.obolibrary.org/obo/DOID_13484 obsolete disorganized type schizophrenia chronic state http://purl.obolibrary.org/obo/NCBITaxon_11082 West Nile virus http://purl.obolibrary.org/obo/NCBITaxon_3048448 Orthoflavivirus nilense http://purl.obolibrary.org/obo/DOID_13518 obsolete stiffness of joint http://purl.obolibrary.org/obo/DOID_13535 obsolete intrapelvic lymph node mast cell malignancy http://purl.obolibrary.org/obo/NCBITaxon_11320 Influenza A virus http://purl.obolibrary.org/obo/NCBITaxon_2955291 Alphainfluenzavirus influenzae http://purl.obolibrary.org/obo/DOID_13554 obsolete gonococcal peritonitis http://purl.obolibrary.org/obo/NCBITaxon_11250 human respiratory syncytial virus http://purl.obolibrary.org/obo/NCBITaxon_3049954 Orthopneumovirus hominis http://purl.obolibrary.org/obo/DOID_13555 obsolete pharyngeal gonorrhea http://purl.obolibrary.org/obo/NCBITaxon_11552 Influenza C virus http://purl.obolibrary.org/obo/NCBITaxon_2955935 Gammainfluenzavirus influenzae http://purl.obolibrary.org/obo/DOID_13556 obsolete gonococcal keratosis http://purl.obolibrary.org/obo/NCBITaxon_11577 La Crosse virus http://purl.obolibrary.org/obo/NCBITaxon_3052409 Orthobunyavirus lacrosseense http://purl.obolibrary.org/obo/DOID_13558 obsolete gonococcal urethritis http://purl.obolibrary.org/obo/NCBITaxon_118655 Oropouche virus http://purl.obolibrary.org/obo/NCBITaxon_3052429 Orthobunyavirus oropoucheense http://purl.obolibrary.org/obo/DOID_1356 obsolete lymphoma by site http://purl.obolibrary.org/obo/DOID_13562 obsolete glaucoma associated with pupillary block http://purl.obolibrary.org/obo/NCBITaxon_213849 Campylobacterales http://purl.obolibrary.org/obo/NCBITaxon_3031852 Epsilonproteobacteria http://purl.obolibrary.org/obo/DOID_13573 obsolete schizo-affective type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/NCBITaxon_2560319 avian paramyxovirus 1 http://purl.obolibrary.org/obo/NCBITaxon_3051375 Orthoavulavirus javaense http://purl.obolibrary.org/obo/DOID_13577 obsolete ascorbic acid deficiency http://purl.obolibrary.org/obo/NCBITaxon_1643688 Leptospirales http://purl.obolibrary.org/obo/NCBITaxon_3118682 Leptospiria http://purl.obolibrary.org/obo/DOID_13581 obsolete magnesium deficiency http://purl.obolibrary.org/obo/HP_0025780 Abnormal volitional state http://purl.obolibrary.org/obo/HP_0025766 Abnormal affect http://purl.obolibrary.org/obo/DOID_13582 obsolete potassium deficiency http://purl.obolibrary.org/obo/HP_0034434 Abnormal communication http://purl.obolibrary.org/obo/HP_0025792 Abnormal cognitive process http://purl.obolibrary.org/obo/DOID_13583 obsolete fetal nutrition disorder http://purl.obolibrary.org/obo/NCBITaxon_2842321 Kolmioviridae http://purl.obolibrary.org/obo/NCBITaxon_3471199 Ribozyviria incertae sedis http://purl.obolibrary.org/obo/DOID_13602 obsolete acute schizophrenic episode subchronic state http://purl.obolibrary.org/obo/CL_0011026 progenitor cell http://purl.obolibrary.org/obo/CL_0011115 precursor cell http://purl.obolibrary.org/obo/DOID_13604 obsolete acute schizophrenic episode chronic state with acute exacerbation http://purl.obolibrary.org/obo/SO_0000340 chromosome http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/DOID_13605 obsolete acute schizophrenic episode chronic state http://purl.obolibrary.org/obo/SO_0000704 gene http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/DOID_13643 obsolete pneumococcal septicemia http://purl.obolibrary.org/obo/SO_0000159 deletion http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/DOID_13644 obsolete streptococcal septicemia http://purl.obolibrary.org/obo/SO_1000035 duplication http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/DOID_13648 obsolete paranoid state http://purl.obolibrary.org/obo/NCBITaxon_3050295 Cytomegalovirus humanbeta5 http://purl.obolibrary.org/obo/NCBITaxon_10358 Cytomegalovirus http://purl.obolibrary.org/obo/DOID_13650 obsolete joint disorder http://purl.obolibrary.org/obo/NCBITaxon_1230527 Curvularia hawaiiensis http://purl.obolibrary.org/obo/NCBITaxon_5502 Curvularia http://purl.obolibrary.org/obo/DOID_13668 obsolete meningococcal encephalitis http://purl.obolibrary.org/obo/NCBITaxon_6249 Ascaridomorpha http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/DOID_13670 obsolete hypocalcemia and hypomagnesemia of newborn http://purl.obolibrary.org/obo/NCBITaxon_2072717 Gnathostomatomorpha http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/DOID_13679 obsolete simple type schizophrenia subchronic state http://purl.obolibrary.org/obo/NCBITaxon_91942 Hortaea http://purl.obolibrary.org/obo/NCBITaxon_668547 Teratosphaeriaceae http://purl.obolibrary.org/obo/DOID_13680 obsolete simple type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_13681 obsolete simple type schizophrenia in remission http://purl.obolibrary.org/obo/NCBITaxon_5052 Aspergillus http://purl.obolibrary.org/obo/NCBITaxon_1131492 Aspergillaceae http://purl.obolibrary.org/obo/DOID_13682 obsolete simple type schizophrenia chronic state http://purl.obolibrary.org/obo/NCBITaxon_3049954 Orthopneumovirus hominis http://purl.obolibrary.org/obo/NCBITaxon_1868215 Orthopneumovirus http://purl.obolibrary.org/obo/NCBITaxon_3977 Euphorbiaceae http://purl.obolibrary.org/obo/NCBITaxon_3646 Malpighiales http://purl.obolibrary.org/obo/DOID_13693 obsolete disorder of ureter http://purl.obolibrary.org/obo/NCBITaxon_235631 Crotonoideae http://purl.obolibrary.org/obo/NCBITaxon_3977 Euphorbiaceae http://purl.obolibrary.org/obo/DOID_13694 obsolete unilateral vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/NCBITaxon_40355 Fonsecaea pedrosoi http://purl.obolibrary.org/obo/NCBITaxon_40354 Fonsecaea http://purl.obolibrary.org/obo/DOID_13695 obsolete bilateral vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/NCBITaxon_86057 Fonsecaea compacta http://purl.obolibrary.org/obo/NCBITaxon_40354 Fonsecaea http://purl.obolibrary.org/obo/DOID_13696 obsolete vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/NCBITaxon_28843 Diphyllobothriidae http://purl.obolibrary.org/obo/NCBITaxon_1224679 Diphyllobothriidea http://purl.obolibrary.org/obo/DOID_13702 obsolete postpartum benign essential hypertension http://purl.obolibrary.org/obo/NCBITaxon_121739 Lacazia http://purl.obolibrary.org/obo/NCBITaxon_1593277 Onygenales incertae sedis http://purl.obolibrary.org/obo/DOID_1376 obsolete perinatal infectious disease http://purl.obolibrary.org/obo/NCBITaxon_3052225 Henipavirus nipahense http://purl.obolibrary.org/obo/NCBITaxon_260964 Henipavirus http://purl.obolibrary.org/obo/DOID_1378 obsolete uterine corpus mixed epithelial and mesenchymal tumor http://purl.obolibrary.org/obo/NCBITaxon_2267273 Dibothriocephalus http://purl.obolibrary.org/obo/NCBITaxon_28843 Diphyllobothriidae http://purl.obolibrary.org/obo/NCBITaxon_1239 Bacillota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/DOID_13817 obsolete single episode manic disease moderate degree http://purl.obolibrary.org/obo/NCBITaxon_201174 Actinomycetota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/DOID_13818 obsolete single episode manic disorder mild degree http://purl.obolibrary.org/obo/NCBITaxon_544448 Mycoplasmatota http://purl.obolibrary.org/obo/NCBITaxon_1783272 Bacillati http://purl.obolibrary.org/obo/DOID_13820 obsolete congenital pneumonia http://purl.obolibrary.org/obo/NCBITaxon_3980 Hevea http://purl.obolibrary.org/obo/NCBITaxon_235882 Micrandreae http://purl.obolibrary.org/obo/DOID_13837 obsolete convergence excess or spasm http://purl.obolibrary.org/obo/NCBITaxon_7160 Aedes albopictus http://purl.obolibrary.org/obo/NCBITaxon_53541 Stegomyia http://purl.obolibrary.org/obo/DOID_1384 obsolete Chlamydia trachomatis urethritis http://purl.obolibrary.org/obo/NCBITaxon_5741 Giardia duodenalis http://purl.obolibrary.org/obo/NCBITaxon_5740 Giardia http://purl.obolibrary.org/obo/DOID_13844 obsolete suppressed lactation - delivered http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/NCBITaxon_147100 Rhabditophora http://purl.obolibrary.org/obo/NCBITaxon_147572 Piedraia http://purl.obolibrary.org/obo/NCBITaxon_147571 Piedraiaceae http://purl.obolibrary.org/obo/DOID_13845 obsolete suppressed lactation http://purl.obolibrary.org/obo/NCBITaxon_147573 Piedraia hortae http://purl.obolibrary.org/obo/NCBITaxon_147572 Piedraia http://purl.obolibrary.org/obo/NCBITaxon_85819 Phthiraptera http://purl.obolibrary.org/obo/NCBITaxon_160148 Troctomorpha http://purl.obolibrary.org/obo/DOID_13850 obsolete acquired hallux varus http://purl.obolibrary.org/obo/DOID_13869 obsolete psychosexual dysfunction with male orgasmic disease http://purl.obolibrary.org/obo/NCBITaxon_6312 Angiostrongylus http://purl.obolibrary.org/obo/NCBITaxon_55271 Metastrongylidae http://purl.obolibrary.org/obo/DOID_13887 obsolete residual chronic schizophrenia http://purl.obolibrary.org/obo/NCBITaxon_5039 Blastomyces dermatitidis http://purl.obolibrary.org/obo/NCBITaxon_229219 Blastomyces http://purl.obolibrary.org/obo/DOID_13906 obsolete malignant pleural effusion http://purl.obolibrary.org/obo/NCBITaxon_2060905 Blastomyces parvus http://purl.obolibrary.org/obo/NCBITaxon_229219 Blastomyces http://purl.obolibrary.org/obo/NCBITaxon_2682482 Mastigamoebida http://purl.obolibrary.org/obo/NCBITaxon_555406 Archamoebae http://purl.obolibrary.org/obo/NCBITaxon_1714621 Borna disease virus 1 http://purl.obolibrary.org/obo/NCBITaxon_1714619 Orthobornavirus bornaense http://purl.obolibrary.org/obo/NCBITaxon_181550 Trichomonadidae http://purl.obolibrary.org/obo/NCBITaxon_37104 Trichomonadida http://purl.obolibrary.org/obo/DOID_13923 obsolete acute psychogenic paranoid psychosis http://purl.obolibrary.org/obo/DOID_13954 obsolete mitotically active variant uterine corpus leiomyoma http://purl.obolibrary.org/obo/NCBITaxon_79923 Clonorchis sinensis http://purl.obolibrary.org/obo/NCBITaxon_79922 Clonorchis http://purl.obolibrary.org/obo/DOID_13962 obsolete peripheral focal retinitis and retinochoroiditis http://purl.obolibrary.org/obo/NCBITaxon_235882 Micrandreae http://purl.obolibrary.org/obo/NCBITaxon_235631 Crotonoideae http://purl.obolibrary.org/obo/NCBITaxon_91943 Hortaea werneckii http://purl.obolibrary.org/obo/NCBITaxon_91942 Hortaea http://purl.obolibrary.org/obo/DOID_13969 obsolete schizo-affective type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/NCBITaxon_5740 Giardia http://purl.obolibrary.org/obo/NCBITaxon_68459 Giardiinae http://purl.obolibrary.org/obo/NCBITaxon_6333 Trichinella http://purl.obolibrary.org/obo/NCBITaxon_6332 Trichinellidae http://purl.obolibrary.org/obo/DOID_13970 obsolete schizo-affective type schizophrenia chronic state http://purl.obolibrary.org/obo/FOODON_00002319 trout food product http://purl.obolibrary.org/obo/FOODON_00001623 atlantic salmon and trout food product http://purl.obolibrary.org/obo/DOID_13975 obsolete metastatic tumor to the brain stem http://purl.obolibrary.org/obo/FOODON_00001705 leaf celery food product http://purl.obolibrary.org/obo/FOODON_00001704 celery food product http://purl.obolibrary.org/obo/DOID_13995 obsolete secondary malignant neoplasm to the small Intestine http://purl.obolibrary.org/obo/DOID_14001 obsolete diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder http://purl.obolibrary.org/obo/FOODON_00002239 shrimp food product http://purl.obolibrary.org/obo/FOODON_00001792 crustacean food product http://purl.obolibrary.org/obo/FOODON_00002244 snail food product http://purl.obolibrary.org/obo/FOODON_00002044 mollusc food product http://purl.obolibrary.org/obo/DOID_1402 obsolete agalactia http://purl.obolibrary.org/obo/FOODON_00002185 rainbow trout food product http://purl.obolibrary.org/obo/FOODON_00002075 pacific salmon food product http://purl.obolibrary.org/obo/DOID_14038 obsolete precocious puberty http://purl.obolibrary.org/obo/DOID_14041 obsolete endocrine tuberculosis http://purl.obolibrary.org/obo/FOODON_00001164 tomato food product http://purl.obolibrary.org/obo/FOODON_00001163 solanaceous fruit food product http://purl.obolibrary.org/obo/DOID_14044 obsolete rheumatic pericarditis http://purl.obolibrary.org/obo/FOODON_00001704 celery food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_14045 obsolete syndrome of infant of a diabetic mother http://purl.obolibrary.org/obo/FOODON_00001623 atlantic salmon and trout food product http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/DOID_14056 obsolete rheumatic endocarditis http://purl.obolibrary.org/obo/FOODON_00002075 pacific salmon food product http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/DOID_14063 obsolete acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/FOODON_00001615 apricot food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_14072 obsolete neoplastic pregnancy complications http://purl.obolibrary.org/obo/FOODON_00001717 cherry food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_14090 obsolete heartwater disease http://purl.obolibrary.org/obo/FOODON_00002095 peach food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_14108 obsolete syphilitic peritonitis http://purl.obolibrary.org/obo/FOODON_00002161 plum fruit food product http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/DOID_14114 obsolete congenital adhesion of tongue http://purl.obolibrary.org/obo/DOID_14117 obsolete group A hyperlipidemia http://purl.obolibrary.org/obo/DOID_14157 obsolete malnutrition of mild degree http://purl.obolibrary.org/obo/NCBITaxon_2704949 Trypanosomatida http://purl.obolibrary.org/obo/NCBITaxon_2704647 Metakinetoplastina http://purl.obolibrary.org/obo/DOID_14163 obsolete metastatic malignant tumor to the anus http://purl.obolibrary.org/obo/NCBITaxon_5654 Trypanosomatidae http://purl.obolibrary.org/obo/NCBITaxon_2704949 Trypanosomatida http://purl.obolibrary.org/obo/DOID_14178 obsolete immunodeficiency with increased IgM http://purl.obolibrary.org/obo/NCBITaxon_11020 Barmah Forest virus http://purl.obolibrary.org/obo/NCBITaxon_3426294 Alphavirus barmah http://purl.obolibrary.org/obo/DOID_14182 obsolete metastatic tumor to the choroid http://purl.obolibrary.org/obo/NCBITaxon_11021 Eastern equine encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3426299 Alphavirus eastern http://purl.obolibrary.org/obo/DOID_1419 obsolete residual schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/NCBITaxon_11029 Ross River virus http://purl.obolibrary.org/obo/NCBITaxon_3426314 Alphavirus rossriver http://purl.obolibrary.org/obo/DOID_14190 obsolete shared paranoid disease http://purl.obolibrary.org/obo/NCBITaxon_11039 Western equine encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3426323 Alphavirus western http://purl.obolibrary.org/obo/DOID_14191 obsolete simple paranoid state http://purl.obolibrary.org/obo/NCBITaxon_11617 Arenaviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/DOID_14200 obsolete diplopia http://purl.obolibrary.org/obo/NCBITaxon_1980415 Nairoviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/DOID_14215 obsolete hyperamylasemia http://purl.obolibrary.org/obo/NCBITaxon_1980418 Phenuiviridae http://purl.obolibrary.org/obo/NCBITaxon_3151839 Hareavirales http://purl.obolibrary.org/obo/DOID_14258 obsolete leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/NCBITaxon_12092 Hepatovirus A http://purl.obolibrary.org/obo/NCBITaxon_3407641 Hepatovirus ahepa http://purl.obolibrary.org/obo/DOID_14263 obsolete fits in newborn http://purl.obolibrary.org/obo/NCBITaxon_1335626 Middle East respiratory syndrome-related coronavirus http://purl.obolibrary.org/obo/NCBITaxon_3433633 Betacoronavirus cameli http://purl.obolibrary.org/obo/DOID_1427 obsolete disorder of pancreatic internal secretion http://purl.obolibrary.org/obo/NCBITaxon_138948 Enterovirus A http://purl.obolibrary.org/obo/NCBITaxon_3428500 Enterovirus alphacoxsackie http://purl.obolibrary.org/obo/DOID_14278 obsolete arthropathy of the hand http://purl.obolibrary.org/obo/NCBITaxon_138949 Enterovirus B http://purl.obolibrary.org/obo/NCBITaxon_3428502 Enterovirus betacoxsackie http://purl.obolibrary.org/obo/DOID_14312 obsolete nontoxic uninodular goiter http://purl.obolibrary.org/obo/NCBITaxon_138950 Enterovirus C http://purl.obolibrary.org/obo/NCBITaxon_3428505 Enterovirus coxsackiepol http://purl.obolibrary.org/obo/DOID_14313 obsolete thyroid nodule http://purl.obolibrary.org/obo/NCBITaxon_138951 Enterovirus D http://purl.obolibrary.org/obo/NCBITaxon_3428506 Enterovirus deconjuncti http://purl.obolibrary.org/obo/DOID_14327 obsolete gonococcal pericarditis http://purl.obolibrary.org/obo/NCBITaxon_194440 Primate T-lymphotropic virus 1 http://purl.obolibrary.org/obo/NCBITaxon_3428212 Deltaretrovirus priTlym1 http://purl.obolibrary.org/obo/DOID_14339 obsolete paraphrenia http://purl.obolibrary.org/obo/NCBITaxon_2169701 Onyong-nyong virus http://purl.obolibrary.org/obo/NCBITaxon_3426312 Alphavirus onyong http://purl.obolibrary.org/obo/DOID_14363 obsolete congenital syphilitic meningitis http://purl.obolibrary.org/obo/NCBITaxon_694009 Severe acute respiratory syndrome-related coronavirus http://purl.obolibrary.org/obo/NCBITaxon_3418604 Betacoronavirus pandemicum http://purl.obolibrary.org/obo/DOID_14401 obsolete cutis marmorata http://purl.obolibrary.org/obo/NCBITaxon_2697049 Severe acute respiratory syndrome coronavirus 2 http://purl.obolibrary.org/obo/NCBITaxon_3418604 Betacoronavirus pandemicum http://purl.obolibrary.org/obo/DOID_1442 obsolete Alpers syndrome http://purl.obolibrary.org/obo/NCBITaxon_2732559 Rowavirales http://purl.obolibrary.org/obo/NCBITaxon_3412727 Pharingeaviricetes http://purl.obolibrary.org/obo/DOID_14425 obsolete secondary malignant neoplasm of intra-abdominal lymph node http://purl.obolibrary.org/obo/NCBITaxon_2748762 Colorado tick fever coltivirus http://purl.obolibrary.org/obo/NCBITaxon_3428066 Coltivirus dermacentoris http://purl.obolibrary.org/obo/DOID_14426 obsolete secondary malignant neoplasm of intrathoracic lymph node http://purl.obolibrary.org/obo/NCBITaxon_3412727 Pharingeaviricetes http://purl.obolibrary.org/obo/NCBITaxon_3412694 Polisuviricotina http://purl.obolibrary.org/obo/DOID_14467 obsolete drug-induced persisting amnestic disease http://purl.obolibrary.org/obo/NCBITaxon_37124 Chikungunya virus http://purl.obolibrary.org/obo/NCBITaxon_3426298 Alphavirus chikungunya http://purl.obolibrary.org/obo/DOID_14490 obsolete metastasis to the ureter http://purl.obolibrary.org/obo/SO_0002072 sequence_comparison http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/DOID_14492 obsolete metastatic neoplasm of ureter http://purl.obolibrary.org/obo/SO_0001411 biological_region http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/DOID_145 obsolete papilledema associated with retinal disorder http://purl.obolibrary.org/obo/SO_0002245 five_prime_duplicated_transcript http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/DOID_14518 obsolete Idiopathic cysts of iris and ciliary body http://purl.obolibrary.org/obo/SO_0002246 three_prime_duplicated_transcript http://purl.obolibrary.org/obo/SO_0002244 partially_duplicated_transcript http://purl.obolibrary.org/obo/DOID_14521 obsolete cutaneous breast cancer http://purl.obolibrary.org/obo/NCBITaxon_10359 Human betaherpesvirus 5 http://purl.obolibrary.org/obo/NCBITaxon_3050295 Cytomegalovirus humanbeta5 http://purl.obolibrary.org/obo/DOID_14530 obsolete syringomyelia and syringobulbia http://purl.obolibrary.org/obo/NCBITaxon_10372 Human betaherpesvirus 7 http://purl.obolibrary.org/obo/NCBITaxon_3050298 Roseolovirus humanbeta7 http://purl.obolibrary.org/obo/DOID_14539 obsolete metastasis to heart http://purl.obolibrary.org/obo/NCBITaxon_10376 human gammaherpesvirus 4 http://purl.obolibrary.org/obo/NCBITaxon_3050299 Lymphocryptovirus humangamma4 http://purl.obolibrary.org/obo/DOID_14542 obsolete macular or paramacular focal retinitis and retinochoroiditis http://purl.obolibrary.org/obo/DOID_14549 obsolete Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear http://purl.obolibrary.org/obo/CL_0008034 mural cell http://purl.obolibrary.org/obo/CL_4033054 perivascular cell http://purl.obolibrary.org/obo/DOID_14558 obsolete nontoxic multinodular goiter http://purl.obolibrary.org/obo/SYMP_0000585 sleep related movement disorder http://purl.obolibrary.org/obo/SYMP_0000566 sleep disturbance http://purl.obolibrary.org/obo/DOID_1465 obsolete Salmonella septicemia http://purl.obolibrary.org/obo/SO_0001260 sequence_collection http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_1466 obsolete Salmonella infectious disease http://purl.obolibrary.org/obo/SO_0001060 sequence_variant http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_14676 obsolete congenital contricting bands http://purl.obolibrary.org/obo/SO_0000400 sequence_attribute http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_14680 obsolete hereditary inflammatory vasculitis http://purl.obolibrary.org/obo/SO_0000110 sequence_feature http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/DOID_1469 obsolete single major depressive episode in full remission http://purl.obolibrary.org/obo/GENO_0000146 X-linked dominant inheritance http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/DOID_14727 obsolete dominant cogenital severe sensorineural deafness http://purl.obolibrary.org/obo/DOID_14739 obsolete progressive high-tone neural deafness http://purl.obolibrary.org/obo/GENO_0000149 X-linked recessive inheritance http://purl.obolibrary.org/obo/GENO_0000936 X-linked inheritance http://purl.obolibrary.org/obo/DOID_14787 obsolete Fryns syndrome http://purl.obolibrary.org/obo/GENO_0000935 allosomal inheritance http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/DOID_1486 obsolete secondary syphilitic chorioretinitis http://purl.obolibrary.org/obo/DOID_1487 obsolete secondary syphilitic uveitis http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/GENO_0000933 monogenic inheritance http://purl.obolibrary.org/obo/HP_0032252 Granuloma http://purl.obolibrary.org/obo/HP_0032251 Abnormal immune system morphology http://purl.obolibrary.org/obo/DOID_1491 obsolete corneal anesthesia and hypoesthesia http://purl.obolibrary.org/obo/HP_0033095 Increased sulfur amino acid level in urine http://purl.obolibrary.org/obo/HP_0033100 Increased proteinogenic amino acid level in urine http://purl.obolibrary.org/obo/DOID_1499 obsolete Vibrio infectious disease http://purl.obolibrary.org/obo/DOID_1511 obsolete residual schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/HP_0004338 Abnormal circulating aromatic amino acid concentration http://purl.obolibrary.org/obo/HP_0033107 Abnormal circulating proteinogenic amino acid concentration http://purl.obolibrary.org/obo/DOID_1515 obsolete mitral valve syphilitic endocarditis http://purl.obolibrary.org/obo/HP_0000924 Abnormality of the skeletal system http://purl.obolibrary.org/obo/HP_0033127 Abnormality of the musculoskeletal system http://purl.obolibrary.org/obo/DOID_1516 obsolete syphilitic endocarditis http://purl.obolibrary.org/obo/FOODON_00002487 jujube fruit (raw) http://purl.obolibrary.org/obo/FOODON_00003652 jujube fruit http://purl.obolibrary.org/obo/DOID_1528 obsolete penile non-neoplastic disease http://purl.obolibrary.org/obo/DOID_1530 obsolete male non-neoplastic reproductive system disease http://purl.obolibrary.org/obo/NCBITaxon_11084 Tick-borne encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3052465 Orthoflavivirus encephalitidis http://purl.obolibrary.org/obo/DOID_1543 obsolete metastatic neoplasm of parathyroid http://purl.obolibrary.org/obo/NCBITaxon_11080 St. Louis encephalitis virus http://purl.obolibrary.org/obo/NCBITaxon_3052468 Orthoflavivirus louisense http://purl.obolibrary.org/obo/DOID_155 obsolete glandular and epithelial neoplasm http://purl.obolibrary.org/obo/NCBITaxon_11588 Rift Valley fever virus http://purl.obolibrary.org/obo/NCBITaxon_3052676 Phlebovirus riftense http://purl.obolibrary.org/obo/NCBITaxon_12637 Dengue virus http://purl.obolibrary.org/obo/NCBITaxon_3052464 Orthoflavivirus denguei http://purl.obolibrary.org/obo/DOID_1550 obsolete gestational diabetes complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/FOODON_00001165 solanaceous food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_1568 obsolete calculus of gallbladder and bile duct with acute and chronic cholecystitis http://purl.obolibrary.org/obo/FOODON_00001175 plant stem food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_1585 obsolete rheumatic pneumonia http://purl.obolibrary.org/obo/FOODON_00001242 spice or herb http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_159 obsolete mesothelial neoplasm http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/DOID_1592 obsolete secondary malignant neoplasm of retroperitoneum and peritoneum http://purl.obolibrary.org/obo/FOODON_00001262 botanical fruit food product http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/DOID_1593 obsolete metastasis to the peritoneum http://purl.obolibrary.org/obo/DOID_1597 obsolete single episode mild major depression http://purl.obolibrary.org/obo/FOODON_00002141 plant fruit as vegetable food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_1599 obsolete single episode moderate major depression http://purl.obolibrary.org/obo/FOODON_00002277 stone fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_1620 obsolete breast fibroepithelial tumor http://purl.obolibrary.org/obo/DOID_1624 obsolete breast soft tissue tumor http://purl.obolibrary.org/obo/FOODON_00003652 jujube fruit http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_163 obsolete mucoepidermoid tumor http://purl.obolibrary.org/obo/DOID_1634 obsolete breast papillomatosis http://purl.obolibrary.org/obo/FOODON_00001150 cucurbit fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_164 obsolete cystic, mucinous, and serous neoplasm http://purl.obolibrary.org/obo/FOODON_00001151 citrus fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_1661 obsolete malignant intracranial germ cell neoplasm http://purl.obolibrary.org/obo/FOODON_00001158 pomaceous fruit food product http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/DOID_1666 obsolete hip enthesopathy http://purl.obolibrary.org/obo/FOODON_00001163 solanaceous fruit food product http://purl.obolibrary.org/obo/FOODON_00001165 solanaceous food product http://purl.obolibrary.org/obo/DOID_1667 obsolete peripheral enthesopathy http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/DOID_1685 obsolete glaucoma associated with vascular disorder http://purl.obolibrary.org/obo/FOODON_00001251 avian food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/DOID_1695 obsolete congenital ichthyosis http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/DOID_1699 obsolete congenital ichthyosiform erythroderma http://purl.obolibrary.org/obo/DOID_1709 obsolete rickettsiosis http://purl.obolibrary.org/obo/FOODON_00001274 egg food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/DOID_1741 obsolete drug-induced psychotic disease with delusion http://purl.obolibrary.org/obo/FOODON_00001275 chicken egg food product http://purl.obolibrary.org/obo/FOODON_00001105 avian egg food product http://purl.obolibrary.org/obo/DOID_1744 obsolete malignant lymphatic vessel tumor http://purl.obolibrary.org/obo/FOODON_00001109 caprine dairy food product http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/DOID_2214 obsolete inherited blood coagulation disease http://purl.obolibrary.org/obo/FOODON_00001118 cattle dairy food product http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/DOID_2481 obsolete infantile epileptic encephalopathy http://purl.obolibrary.org/obo/FOODON_00001771 cow milk based food product http://purl.obolibrary.org/obo/FOODON_00001257 milk or milk based food product http://purl.obolibrary.org/obo/DOID_715 obsolete T-cell lymphoblastic leukemia/lymphoma http://purl.obolibrary.org/obo/FOODON_00002029 melon food product http://purl.obolibrary.org/obo/FOODON_00001150 cucurbit fruit food product http://purl.obolibrary.org/obo/NCBITaxon_1 ncbitaxon http://purl.obolibrary.org/obo/FOODON_00002071 orange food product http://purl.obolibrary.org/obo/FOODON_00001151 citrus fruit food product http://purl.obolibrary.org/obo/FOODON_00001611 apple food product http://purl.obolibrary.org/obo/FOODON_00001158 pomaceous fruit food product http://purl.obolibrary.org/obo/UBERON_0001062 anatomy http://purl.obolibrary.org/obo/FOODON_00002156 plant stem or spear food product http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/FOODON_00001242 spice or herb http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/FOODON_00001684 carp food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/DOID_0080220 obsolete major affective disorder 1 http://purl.obolibrary.org/obo/FOODON_00001750 cod food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/DOID_0080221 obsolete major affective disorder 2 http://purl.obolibrary.org/obo/DOID_0080229 obsolete autosomal dominant mental retardation 61 http://purl.obolibrary.org/obo/FOODON_00002220 salmon food product http://purl.obolibrary.org/obo/FOODON_00001248 fish food product http://purl.obolibrary.org/obo/DOID_0080340 obsolete X-linked dominant disease http://purl.obolibrary.org/obo/FOODON_00001105 avian egg food product http://purl.obolibrary.org/obo/FOODON_00001274 egg food product http://purl.obolibrary.org/obo/DOID_0080341 obsolete X-linked recessive disease http://purl.obolibrary.org/obo/FOODON_00001107 bovine dairy food product http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/doid#chebi chebi http://purl.obolibrary.org/obo/DOID_0080783 obsolete X-linked sensorineural deafness http://purl.obolibrary.org/obo/FOODON_00001257 milk or milk based food product http://purl.obolibrary.org/obo/FOODON_00001256 dairy food product http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/FOODON_00001057 plant fruit food product http://purl.obolibrary.org/obo/FOODON_00001261 vegetable food product http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/FOODON_00001264 legume food product http://purl.obolibrary.org/obo/FOODON_00001262 botanical fruit food product http://purl.obolibrary.org/obo/DOID_0070175 obsolete spermatogenic failure 9 http://purl.obolibrary.org/obo/FOODON_00001792 crustacean food product http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/FOODON_00002044 mollusc food product http://purl.obolibrary.org/obo/FOODON_00001293 shellfish food product http://purl.obolibrary.org/obo/MIM_607681 obsolete susceptibility to childhood absence epilepsy 2 http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/MIM_615032 obsolete susceptibility to autism 18 http://purl.obolibrary.org/obo/NCBITaxon_2720872 Fumigati http://purl.obolibrary.org/obo/NCBITaxon_5052 Aspergillus http://purl.obolibrary.org/obo/MIM_616568 obsolete glioma susceptibility 9 http://purl.obolibrary.org/obo/NCBITaxon_2790996 Mycoplasmoidales http://purl.obolibrary.org/obo/NCBITaxon_544448 Mycoplasmatota http://purl.obolibrary.org/obo/RO_0002202 develops from http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/NCBITaxon_2605435 Evosea http://purl.obolibrary.org/obo/NCBITaxon_554915 Amoebozoa http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to http://purl.obolibrary.org/obo/NCBITaxon_37104 Trichomonadida http://purl.obolibrary.org/obo/NCBITaxon_5719 Parabasalia http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 has characteristic http://purl.obolibrary.org/obo/SO_0001744 UPD http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/RO_0007001 has disease driver http://purl.obolibrary.org/obo/RO_0007000 has driver http://purl.obolibrary.org/obo/SO_0001785 structural_alteration http://purl.obolibrary.org/obo/SO_0001059 sequence_alteration http://purl.obolibrary.org/obo/RO_0002452 has symptom http://purl.obolibrary.org/obo/RO_0002200 has phenotype http://purl.obolibrary.org/obo/SO_0001563 copy_number_change http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/RO_0002241 has exposure stressor http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/SO_0002160 sequence_length_variant http://purl.obolibrary.org/obo/RO_0002200 has phenotype http://purl.obolibrary.org/obo/RO_0016001 has phenotype or disease http://purl.obolibrary.org/obo/SO_0002162 short_tandem_repeat_expansion http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/RO_0001020 is allergic trigger for http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/SO_0002163 short_tandem_repeat_contraction http://purl.obolibrary.org/obo/SO_0002161 short_tandem_repeat_change http://purl.obolibrary.org/obo/RO_0001021 is autoimmune trigger for http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/SO_0002165 trinucleotide_repeat_expansion http://purl.obolibrary.org/obo/SO_0002162 short_tandem_repeat_expansion http://purl.obolibrary.org/obo/RO_0003304 contributes to condition http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/RO_0003303 causes condition http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/FOODON_00001015 plant food product http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/RO_0001022 has allergic trigger http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/NCBITaxon_61462 Gnathostomatoidea http://purl.obolibrary.org/obo/NCBITaxon_2072717 Gnathostomatomorpha http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/NCBITaxon_2082224 Strongyloidoidea http://purl.obolibrary.org/obo/NCBITaxon_2082223 Panagrolaimomorpha http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/GENO_0000147 autosomal dominant inheritance http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/GENO_0000148 autosomal recessive inheritance http://purl.obolibrary.org/obo/GENO_0000934 autosomal inheritance http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/FOODON_00001811 dill food product http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/RO_0002220 adjacent to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/FOODON_00002084 parsley food product http://purl.obolibrary.org/obo/FOODON_00003042 herb food product http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to http://purl.obolibrary.org/obo/GENO_0000970 chromosomal deletion inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to http://purl.obolibrary.org/obo/GENO_0000971 chromosomal duplication inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/RO_0004005 has major susceptibility factor http://purl.obolibrary.org/obo/RO_0004000 condition has genetic basis in http://purl.obolibrary.org/obo/GENO_0000972 chromosomal rearrangement inheritance http://purl.obolibrary.org/obo/GENO_0000969 chromosomal inheritance http://purl.obolibrary.org/obo/RO_0004000 condition has genetic basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCBITaxon_1206795 Lophotrochozoa http://purl.obolibrary.org/obo/NCBITaxon_2697495 Spiralia http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/NCBITaxon_33630 Alveolata http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCBITaxon_543769 Rhizaria http://purl.obolibrary.org/obo/NCBITaxon_2698737 Sar http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCBITaxon_746128 Aspergillus fumigatus http://purl.obolibrary.org/obo/NCBITaxon_2720872 Fumigati http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCBITaxon_452563 Cladosporiaceae http://purl.obolibrary.org/obo/NCBITaxon_2726946 Cladosporiales http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/NCBITaxon_668547 Teratosphaeriaceae http://purl.obolibrary.org/obo/NCBITaxon_2726947 Mycosphaerellales http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/SYMP_0000592 excessive crying of infant http://purl.obolibrary.org/obo/SYMP_0000411 infant symptom http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/NCBITaxon_333750 Alphapapillomavirus http://purl.obolibrary.org/obo/NCBITaxon_2169595 Firstpapillomavirinae http://purl.obolibrary.org/obo/RO_0007000 has driver A relation between two entities, in which one of the entities is any natural or human-influenced factor that directly or indirectly causes a change in the other entity. http://purl.obolibrary.org/obo/SO_0001538 transcript_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/IDO_0000664 has material basis in Relating the disease to it’s causation (disease and disorder). http://purl.obolibrary.org/obo/RO#_is_a is_a Relation defining child to partent inheritance type. http://purl.obolibrary.org/obo/SO_0001539 translational_product_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/RO_0002324 developmentally related to http://purl.obolibrary.org/obo/SO_0001773 lethal_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/RO_0000053 has characteristic http://purl.obolibrary.org/obo/SO_0001786 loss_of_heterozygosity http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/RO_0001000 derives from http://purl.obolibrary.org/obo/SO_0002052 dominant_negative_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/RO_0003000 produces http://purl.obolibrary.org/obo/SO_0002053 gain_of_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/RO_0003001 produced by http://purl.obolibrary.org/obo/SO_0002054 loss_of_function_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/RO_0016001 has phenotype or disease http://purl.obolibrary.org/obo/SO_0002055 null_mutation http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/SO_0002319 NMD_triggering_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/so#has_origin has_origin http://purl.obolibrary.org/obo/SO_0002320 NMD_escaping_variant http://purl.obolibrary.org/obo/SO_0002218 functionally_abnormal http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/NCBITaxon_11286 Lyssavirus http://purl.obolibrary.org/obo/NCBITaxon_2842407 Alpharhabdovirinae http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to http://purl.obolibrary.org/obo/NCBITaxon_2790998 Mycoplasmoidaceae http://purl.obolibrary.org/obo/NCBITaxon_2790996 Mycoplasmoidales http://purl.obolibrary.org/obo/RO_0002321 ecologically related to http://purl.obolibrary.org/obo/NCBITaxon_3471199 Ribozyviria incertae sedis http://purl.obolibrary.org/obo/NCBITaxon_2842242 Ribozyviria http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/NCBITaxon_39759 Deltavirus http://purl.obolibrary.org/obo/NCBITaxon_2842321 Kolmioviridae http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/NCBITaxon_6274 Spirurina http://purl.obolibrary.org/obo/NCBITaxon_6236 Rhabditida http://purl.obolibrary.org/obo/UBERON_0001560 neck of organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0005913 zone of bone organ http://purl.obolibrary.org/obo/UBERON_0034944 zone of organ http://purl.obolibrary.org/obo/UBERON_0034979 nonchromaffin paraganglion http://purl.obolibrary.org/obo/UBERON_0034978 paraganglion (generic) http://purl.obolibrary.org/obo/SYMP_0020002 anal abscess http://purl.obolibrary.org/obo/SYMP_0000672 abscess http://purl.obolibrary.org/obo/SYMP_0000723 multiple abscesses http://purl.obolibrary.org/obo/SYMP_0000672 abscess http://purl.obolibrary.org/obo/NCBITaxon_10632 JC polyomavirus http://purl.obolibrary.org/obo/NCBITaxon_1891763 Betapolyomavirus secuhominis http://purl.obolibrary.org/obo/NCBITaxon_11572 Orthobunyavirus http://purl.obolibrary.org/obo/NCBITaxon_1980416 Peribunyaviridae http://purl.obolibrary.org/obo/NCBITaxon_11584 Phlebovirus http://purl.obolibrary.org/obo/NCBITaxon_1980418 Phenuiviridae http://purl.obolibrary.org/obo/NCBITaxon_1891762 Betapolyomavirus hominis http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_1891763 Betapolyomavirus secuhominis http://purl.obolibrary.org/obo/NCBITaxon_1891714 Betapolyomavirus http://purl.obolibrary.org/obo/NCBITaxon_3052518 Orthonairovirus haemorrhagiae http://purl.obolibrary.org/obo/NCBITaxon_1980517 Orthonairovirus http://purl.obolibrary.org/obo/HP_0001880 Increased total eosinophil count http://purl.obolibrary.org/obo/HP_0020064 Abnormal total eosinophil count http://purl.obolibrary.org/obo/HP_0032158 Unusual infection by anatomical site http://purl.obolibrary.org/obo/HP_0032101 Unusual infection http://purl.obolibrary.org/obo/UBERON_0001982 capillary http://purl.obolibrary.org/obo/UBERON_8410081 blood microvessel http://purl.obolibrary.org/obo/HP_4000072 Abnormal language feature http://purl.obolibrary.org/obo/HP_0034434 Abnormal communication http://purl.obolibrary.org/obo/NCBITaxon_1783257 PVC group http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/NCBITaxon_1224 Pseudomonadota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/NCBITaxon_203691 Spirochaetota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/NCBITaxon_29547 Campylobacterota http://purl.obolibrary.org/obo/NCBITaxon_3379134 Pseudomonadati http://purl.obolibrary.org/obo/NCBITaxon_573 Klebsiella pneumoniae http://purl.obolibrary.org/obo/NCBITaxon_3390273 Klebsiella pneumoniae complex http://purl.obolibrary.org/obo/NCBITaxon_3407641 Hepatovirus ahepa http://purl.obolibrary.org/obo/NCBITaxon_3429217 Hepatovirus fejalco http://purl.obolibrary.org/obo/HP_0020350 Abnormal circulating vitamin concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/HP_0430071 Abnormal circulating organic compound concentration http://purl.obolibrary.org/obo/HP_0032180 Abnormal circulating metabolite concentration http://purl.obolibrary.org/obo/NCBITaxon_11118 Coronaviridae http://purl.obolibrary.org/obo/NCBITaxon_2499399 Cornidovirineae http://purl.obolibrary.org/obo/NCBITaxon_11040 Rubivirus http://purl.obolibrary.org/obo/NCBITaxon_2560066 Matonaviridae http://purl.obolibrary.org/obo/MIM_621588 susceptibility to epidermodysplasia verruciformis 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_177900 susceptibility to psoriasis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_601484 susceptibility to psoriasis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_603935 susceptibility to psoriasis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_604316 susceptibility to psoriasis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_605364 susceptibility to psoriasis 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607857 susceptibility to psoriasis 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608391 susceptibility to autoimmune disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608392 susceptibility to autoimmune disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609400 susceptibility to autoimmune disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610707 susceptibility to psoriasis 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612410 susceptibility to psoriasis 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614070 susceptibility to psoriasis 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_102300 susceptibility to restless legs syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_106300 susceptibility to spondyloarthropathy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_125480 major affective disorder 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_126200 susceptibility to multiple sclerosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_127700 susceptibility to dyslexia 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_131200 susceptibility to endometriosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_133180 susceptibility to acute erythroid leukemia http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_137800 glioma susceptibility 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_140600 osteoarthritis susceptibility 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_142623 susceptibility to hirschsprung disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_145600 susceptibility to malignant hyperthermia 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_146500 susceptibility to multiple system atrophy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_148000 susceptibility to kaposi sarcoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_155600 susceptibility to cutaneous malignant melanoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_155601 susceptibility to cutaneous malignant melanoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_165720 osteoarthritis susceptibility 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_166760 susceptibility to otitis media http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_181000 susceptibility to sarcoidosis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_181800 susceptibility to isolated scoliosis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_182940 susceptibility to neural tube defects http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_185100 susceptibility to strabismus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_188890 susceptibility to tobacco addiction http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_212750 susceptibility to celiac disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_215400 susceptibility to chordoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_226400 susceptibility to epidermodysplasia verruciformis 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_235400 susceptibility to atypical hemolytic uremic syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_245300 susceptibility to kuru http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_246300 susceptibility to leprosy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_256700 susceptibility to neuroblastoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_258660 susceptibility to nonarteritic anterior ischemic optic neuropathy http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300125 susceptibility to migraine with or without aura 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300351 susceptibility to Graves disease X-linked 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300425 susceptibility to X-linked autism 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300494 susceptibility to X-linked asperger syndrome 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300495 susceptibility to X-linked autism 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300496 susceptibility to X-linked autism 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300497 susceptibility to X-linked asperger syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300830 susceptibility to X-linked autism 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300847 susceptibility to X-linked autism 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300872 susceptibility to X-linked autism 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300909 susceptibility to angioedema induced by ace inhibitors http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_309200 major affective disorder 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_600155 susceptibility to hirschsprung disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_600807 susceptibility to asthma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_601744 susceptibility to systemic lupus erythematosus 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_601887 susceptibility to malignant hyperthermia 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_603388 susceptibility to Graves disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_604370 susceptibility to familial breast-ovarian cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_605218 susceptibility to systemic lupus erythematosus 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_605462 susceptibility to basal cell carcinoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_605990 susceptibility to uric acid nephrolithiasis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606217 susceptibility to atrioventricular septal defect 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606581 susceptibility to polysubstance abuse http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606657 susceptibility to normal tension glaucoma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606788 susceptibility to anorexia nervosa http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606798 susceptibility to benign essential blepharospasm http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606856 susceptibility to pancreatic cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607174 susceptibility to familial meningioma http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607248 glioma susceptibility 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607354 susceptibility to isolated scoliosis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607373 susceptibility to autism 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607499 susceptibility to bulimia nervosa http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607507 psoriatic arthritis susceptibility http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607516 susceptibility to migraine with or without aura 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607688 susceptibility to autosomal dominant parkinson disease 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607832 susceptibility to focal segmental glomerulosclerosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607836 susceptibility to autoimmune disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607850 osteoarthritis susceptibility 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608049 susceptibility to autism 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608446 susceptibility to myocardial infarction http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608556 susceptibility to legionnaire disease http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608709 susceptibility to partial acquired lipodystrophy http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608765 susceptibility to isolated scoliosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608812 susceptibility to colorectal cancer 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608831 susceptibility to restless legs syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608864 susceptibility to orofacial cleft 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608901 susceptibility to coronary heart disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609048 susceptibility to cutaneous malignant melanoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609148 susceptibility to mild malaria http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609378 susceptibility to autism 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609423 susceptibility to human immunodeficiency virus type 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609532 susceptibility to hepatitis C virus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609633 major affective disorder 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609753 susceptibility to celiac disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609755 susceptibility to celiac disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610297 susceptibility to autosomal dominant parkinson disease 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610438 susceptibility to restless legs syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610439 susceptibility to restless legs syndrome 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610676 susceptibility to autism 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610836 susceptibility to autism 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610839 osteoarthritis susceptibility 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610908 susceptibility to autism 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610927 susceptibility to systemic lupus erythematosus 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610938 susceptibility to coronary heart disease 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610988 susceptibility to leprosy 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611015 susceptibility to autism 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611016 susceptibility to autism 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611162 susceptibility to malaria http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611185 susceptibility to restless legs syndrome 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611242 susceptibility to restless legs syndrome 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611247 major affective disorder 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611469 susceptibility to colorectal cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611535 major affective disorder 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611536 major affective disorder 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611942 susceptibility to childhood absence epilepsy 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612100 susceptibility to autism 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612229 susceptibility to colorectal cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612230 susceptibility to colorectal cancer 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612231 susceptibility to colorectal cancer 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612232 susceptibility to colorectal cancer 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612238 susceptibility to isolated scoliosis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612239 susceptibility to isolated scoliosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612251 susceptibility to systemic lupus erythematosus 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612253 susceptibility to systemic lupus erythematosus 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612269 susceptibility to childhood absence epilepsy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612357 major affective disorder 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612371 major affective disorder 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612372 major affective disorder 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612387 susceptibility to sarcoidosis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612388 susceptibility to sarcoidosis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612400 osteoarthritis susceptibility 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612401 osteoarthritis susceptibility 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612551 susceptibility to focal segmental glomerulosclerosis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612555 susceptibility to familial breast-ovarian cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612589 susceptibility to colorectal cancer 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612590 susceptibility to colorectal cancer 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612591 susceptibility to colorectal cancer 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612592 susceptibility to colorectal cancer 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612853 susceptibility to restless legs syndrome 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612922 susceptibility to atypical hemolytic uremic syndrome 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612923 susceptibility to atypical hemolytic uremic syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612924 susceptibility to atypical hemolytic uremic syndrome 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612925 susceptibility to atypical hemolytic uremic syndrome 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612926 susceptibility to atypical hemolytic uremic syndrome 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613003 susceptibility to attention deficit-hyperactivity disorder 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613013 susceptibility to neuroblastoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613014 susceptibility to neuroblastoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613015 susceptibility to neuroblastoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613016 susceptibility to neuroblastoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613024 susceptibility to follicular lymphoma 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613028 glioma susceptibility 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613029 glioma susceptibility 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613030 glioma susceptibility 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613031 glioma susceptibility 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613032 glioma susceptibility 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613033 glioma susceptibility 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613058 susceptibility to basal cell carcinoma 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613059 susceptibility to basal cell carcinoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613061 susceptibility to basal cell carcinoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613062 susceptibility to basal cell carcinoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613063 susceptibility to basal cell carcinoma 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613067 susceptibility to acute lymphoblastic leukemia 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613099 susceptibility to cutaneous malignant melanoma 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613223 susceptibility to leprosy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613347 susceptibility to pancreatic cancer 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613348 susceptibility to pancreatic cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613399 susceptibility to familial breast-ovarian cancer 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613410 susceptibility to autism 16 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613436 susceptibility to autism 17 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613551 susceptibility to autoimmune disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613643 susceptibility to autosomal dominant parkinson disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613656 susceptibility to migraine with or without aura 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613711 susceptibility to hirschsprung disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613712 susceptibility to hirschsprung disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613972 susceptibility to cutaneous malignant melanoma 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614079 susceptibility to aspergillosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614090 susceptibility to sick sinus syndrome 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614251 susceptibility to autosomal dominant parkinson disease 18 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614291 susceptibility to familial breast-ovarian cancer 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614320 susceptibility to pancreatic cancer 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614371 susceptibility to dengue virus http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614456 susceptibility to cutaneous malignant melanoma 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614466 susceptibility to coronary heart disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614680 susceptibility to severe influenza http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614740 susceptibility to basal cell carcinoma 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614810 susceptibility to multiple sclerosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_615083 susceptibility to colorectal cancer 12 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_615091 susceptibility to autism 19 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_615134 susceptibility to cutaneous malignant melanoma 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_615197 susceptibility to restless legs syndrome 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_615371 susceptibility to neonatal pulmonary hypertension http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_615529 susceptibility to craniosynostosis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_615545 susceptibility to acute lymphoblastic leukemia 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_615557 susceptibility to melioidosis http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_615848 obsolete susceptibility to cutaneous malignant melanoma 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_616106 pustular psoriasis susceptibility 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_616818 susceptibility to IgA nephropathy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_616871 susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_617075 susceptibility to nasopharyngeal carcinoma 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_617349 susceptibility to familial thoracic aortic aneurysm 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_617892 susceptibility to amyotrophic lateral sclerosis 24 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_617921 susceptibility to amyotrophic lateral sclerosis 25 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_618231 susceptibility to epidermodysplasia verruciformis 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_618267 susceptibility to epidermodysplasia verruciformis 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_618307 obsolete susceptibility to epidermodysplasia verruciformis 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_618309 obsolete susceptibility to epidermodysplasia verruciformis 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300464 susceptibility to coronary heart disease 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_300509 susceptibility to dyslexia 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_600131 susceptibility to childhood absence epilepsy 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_600156 susceptibility to hirschsprung disease 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_600202 susceptibility to dyslexia 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_602477 susceptibility to idiopathic generalized epilepsy 17 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_603918 susceptibility to essential hypertension 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_604254 susceptibility to dyslexia 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_604329 susceptibility to essential hypertension 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_604827 susceptibility to idiopathic generalized epilepsy 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606616 susceptibility to dyslexia 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606874 susceptibility to hirschsprung disease 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606875 susceptibility to hirschsprung disease 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606896 susceptibility to dyslexia 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_606972 susceptibility to idiopathic generalized epilepsy 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607329 susceptibility to essential hypertension 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607339 susceptibility to coronary heart disease 1 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607628 susceptibility to idiopathic generalized epilepsy 11 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607682 susceptibility to idiopathic generalized epilepsy 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608035 susceptibility to cutaneous malignant melanoma 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608316 susceptibility to coronary heart disease 2 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608318 susceptibility to coronary heart disease 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608462 susceptibility to hirschsprung disease 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608742 susceptibility to essential hypertension 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608762 susceptibility to idiopathic generalized epilepsy 3 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_608995 susceptibility to dyslexia 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_609750 susceptibility to idiopathic generalized epilepsy 4 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610261 susceptibility to essential hypertension 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610262 susceptibility to essential hypertension 6 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_610948 susceptibility to essential hypertension 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611014 susceptibility to essential hypertension 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611136 susceptibility to idiopathic generalized epilepsy 13 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611139 susceptibility to coronary heart disease 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611644 susceptibility to hirschsprung disease 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_611934 susceptibility to idiopathic generalized epilepsy 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612030 susceptibility to coronary heart disease 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612263 susceptibility to cutaneous malignant melanoma 7 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_612899 susceptibility to idiopathic generalized epilepsy 8 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_613060 susceptibility to idiopathic generalized epilepsy 10 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_614847 susceptibility to idiopathic generalized epilepsy 12 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_616685 susceptibility to idiopathic generalized epilepsy 14 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_618357 susceptibility to idiopathic generalized epilepsy 15 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_618596 susceptibility to idiopathic generalized epilepsy 16 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_619521 susceptibility to idiopathic generalized epilepsy 18 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_620442 susceptibility to familial breast-ovarian cancer 5 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_621064 susceptibility to idiopathic generalized epilepsy 19 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/NCBITaxon_10255 Variola virus http://purl.obolibrary.org/obo/NCBITaxon_3431487 Orthopoxvirus variola http://purl.obolibrary.org/obo/NCBITaxon_108098 Human mastadenovirus B http://purl.obolibrary.org/obo/NCBITaxon_3241406 Mastadenovirus blackbeardi http://purl.obolibrary.org/obo/HP_0003125 Reduced factor VIII activity http://purl.obolibrary.org/obo/HP_0030976 Abnormal factor VIII activity http://purl.obolibrary.org/obo/NCBITaxon_33682 Euglenozoa http://purl.obolibrary.org/obo/NCBITaxon_2611352 Discoba http://purl.obolibrary.org/obo/NCBITaxon_10404 Hepadnaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732515 Blubervirales http://purl.obolibrary.org/obo/NCBITaxon_2169561 Ortervirales http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732515 Blubervirales http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2743711 Danioninae http://purl.obolibrary.org/obo/NCBITaxon_2743709 Danionidae http://purl.obolibrary.org/obo/UBERON_0000463 organism substance http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/UBERON_0005423 developing anatomical structure http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/UBERON_0036215 anatomical surface region http://purl.obolibrary.org/obo/UBERON_0000001 gross anatomical part http://purl.obolibrary.org/obo/SO_0002315 increased_gene_product_level http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/SO_0002316 decreased_gene_product_level http://purl.obolibrary.org/obo/SO_0002314 altered_gene_product_level http://purl.obolibrary.org/obo/NCBITaxon_10240 Poxviridae http://purl.obolibrary.org/obo/NCBITaxon_2732527 Chitovirales http://purl.obolibrary.org/obo/NCBITaxon_10780 Parvoviridae http://purl.obolibrary.org/obo/NCBITaxon_2732534 Piccovirales http://purl.obolibrary.org/obo/NCBITaxon_37727 Talaromyces marneffei http://purl.obolibrary.org/obo/NCBITaxon_2752537 Talaromyces sect. Talaromyces http://purl.obolibrary.org/obo/NCBITaxon_2497569 Negarnaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_2732405 Duplornaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_2732408 Pisuviricota http://purl.obolibrary.org/obo/NCBITaxon_2732396 Orthornavirae http://purl.obolibrary.org/obo/NCBITaxon_11018 Togaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732544 Martellivirales http://purl.obolibrary.org/obo/NCBITaxon_11050 Flaviviridae http://purl.obolibrary.org/obo/NCBITaxon_2732545 Amarillovirales http://purl.obolibrary.org/obo/NCBITaxon_7961 Cyprinus http://purl.obolibrary.org/obo/NCBITaxon_2743694 Cyprininae http://purl.obolibrary.org/obo/NCBITaxon_3079366 Hepeviridae http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/NCBITaxon_2560066 Matonaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/NCBITaxon_12908 unclassified sequences http://purl.obolibrary.org/obo/NCBITaxon_2787823 unclassified entries http://purl.obolibrary.org/obo/NCBITaxon_151341 Polyomaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732532 Sepolyvirales http://purl.obolibrary.org/obo/NCBITaxon_151340 Papillomaviridae http://purl.obolibrary.org/obo/NCBITaxon_2732533 Zurhausenvirales http://purl.obolibrary.org/obo/NCBITaxon_7954 Danio http://purl.obolibrary.org/obo/NCBITaxon_2743711 Danioninae http://purl.obolibrary.org/obo/NCBITaxon_2731360 Heunggongvirae http://purl.obolibrary.org/obo/NCBITaxon_2731341 Duplodnaviria http://purl.obolibrary.org/obo/NCBITaxon_2732092 Shotokuvirae http://purl.obolibrary.org/obo/NCBITaxon_2731342 Floreoviria http://purl.obolibrary.org/obo/NCBITaxon_2731361 Peploviricota http://purl.obolibrary.org/obo/NCBITaxon_2731360 Heunggongvirae http://purl.obolibrary.org/obo/NCBITaxon_2731363 Herviviricetes http://purl.obolibrary.org/obo/NCBITaxon_2731361 Peploviricota http://purl.obolibrary.org/obo/NCBITaxon_548681 Herpesvirales http://purl.obolibrary.org/obo/NCBITaxon_2731363 Herviviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/NCBITaxon_2732004 Varidnaviria http://purl.obolibrary.org/obo/NCBITaxon_2732007 Nucleocytoviricota http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/NCBITaxon_2732008 Preplasmiviricota http://purl.obolibrary.org/obo/NCBITaxon_2732005 Bamfordvirae http://purl.obolibrary.org/obo/NCBITaxon_2732525 Pokkesviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732007 Nucleocytoviricota http://purl.obolibrary.org/obo/NCBITaxon_3412694 Polisuviricotina http://purl.obolibrary.org/obo/NCBITaxon_2732008 Preplasmiviricota http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732092 Shotokuvirae http://purl.obolibrary.org/obo/NCBITaxon_2732409 Artverviricota http://purl.obolibrary.org/obo/NCBITaxon_2732397 Pararnavirae http://purl.obolibrary.org/obo/NCBITaxon_2732459 Resentoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732405 Duplornaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/NCBITaxon_2732462 Flasuviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732406 Kitrinoviricota http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732408 Pisuviricota http://purl.obolibrary.org/obo/NCBITaxon_2732514 Revtraviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732409 Artverviricota http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732422 Quintoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732415 Cossaviricota http://purl.obolibrary.org/obo/NCBITaxon_2732532 Sepolyvirales http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732533 Zurhausenvirales http://purl.obolibrary.org/obo/NCBITaxon_2732421 Papovaviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732534 Piccovirales http://purl.obolibrary.org/obo/NCBITaxon_2732422 Quintoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732541 Reovirales http://purl.obolibrary.org/obo/NCBITaxon_2732459 Resentoviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732544 Martellivirales http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732543 Hepelivirales http://purl.obolibrary.org/obo/NCBITaxon_2732461 Alsuviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732545 Amarillovirales http://purl.obolibrary.org/obo/NCBITaxon_2732462 Flasuviricetes http://purl.obolibrary.org/obo/NCBITaxon_464095 Picornavirales http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/NCBITaxon_76804 Nidovirales http://purl.obolibrary.org/obo/NCBITaxon_2732506 Pisoniviricetes http://purl.obolibrary.org/obo/NCBITaxon_2732527 Chitovirales http://purl.obolibrary.org/obo/NCBITaxon_2732525 Pokkesviricetes http://purl.obolibrary.org/obo/HP_0034058 Abnormal fetal morphology http://purl.obolibrary.org/obo/HP_0034057 Fetal anomaly http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria http://purl.obolibrary.org/obo/HP_0025745 Abnormal urine amino acid level http://purl.obolibrary.org/obo/NCBITaxon_3052489 Orthohantavirus negraense http://purl.obolibrary.org/obo/NCBITaxon_3431295 Orthohantavirus mamorense http://purl.obolibrary.org/obo/SYMP_0000375 severe abdominal cramp http://purl.obolibrary.org/obo/SYMP_0000001 abdominal cramp http://purl.obolibrary.org/obo/SYMP_0020026 chronic inflammation http://purl.obolibrary.org/obo/SYMP_0000061 inflammation http://purl.obolibrary.org/obo/SYMP_0000437 earache http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000202 acute painful vision loss http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000230 body ache http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0020023 bone pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000291 gas pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000404 dyspareunia http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000576 chest pain http://purl.obolibrary.org/obo/SYMP_0000099 pain http://purl.obolibrary.org/obo/SYMP_0000362 progressive prostration http://purl.obolibrary.org/obo/SYMP_0000116 prostration http://purl.obolibrary.org/obo/SYMP_0000129 severe conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000128 conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000757 mild conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000128 conjunctivitis http://purl.obolibrary.org/obo/SYMP_0000707 flaccid muscle tone http://purl.obolibrary.org/obo/SYMP_0000183 muscle symptom http://purl.obolibrary.org/obo/SYMP_0000094 muscle weakness http://purl.obolibrary.org/obo/SYMP_0000183 muscle symptom http://purl.obolibrary.org/obo/SYMP_0000234 cloudy cornea http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0000240 corneal opacity http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0000241 corneal ulcers http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0000314 keratitis http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0000282 fixed dilated pupils http://purl.obolibrary.org/obo/SYMP_0000254 dilated pupil http://purl.obolibrary.org/obo/SYMP_0000396 mydriasis http://purl.obolibrary.org/obo/SYMP_0000254 dilated pupil http://purl.obolibrary.org/obo/SYMP_0000339 occasional diplopia http://purl.obolibrary.org/obo/SYMP_0000258 double vision http://purl.obolibrary.org/obo/SYMP_0020005 acquired color vision deficiency http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0020009 blind spot http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0000008 blindness http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0000258 double vision http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0000321 loss of vision http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0000628 vision distortion http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0000416 amaurosis http://purl.obolibrary.org/obo/SYMP_0000321 loss of vision http://purl.obolibrary.org/obo/SYMP_0000325 mild bronchitis http://purl.obolibrary.org/obo/SYMP_0000324 bronchitis http://purl.obolibrary.org/obo/SYMP_0000109 mouth papules http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000260 dry mouth http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000330 mouth sore http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000342 slurred speech http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000650 thick white exudate on tongue http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000655 mouth bleeding http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000727 palate weakness http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000752 herpetic lesion on upper lip http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000865 lesions in mouth http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000877 decreased tongue tone http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000507 head swelling http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/SYMP_0000386 mouth symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/SYMP_0000134 sinusitis http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/SYMP_0000664 yellow exudate from nose http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/SYMP_0000701 nasal discharge http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/SYMP_0000741 nasal bleeding http://purl.obolibrary.org/obo/SYMP_0000388 nose symptom http://purl.obolibrary.org/obo/SYMP_0000019 deafness http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/SYMP_0000393 tinnitus http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/SYMP_0000703 droopy ears http://purl.obolibrary.org/obo/SYMP_0000392 ear symptom http://purl.obolibrary.org/obo/SYMP_0000397 unreactive mydriasis http://purl.obolibrary.org/obo/SYMP_0000396 mydriasis http://purl.obolibrary.org/obo/SYMP_0000753 intense anxiety http://purl.obolibrary.org/obo/SYMP_0000412 anxiety http://purl.obolibrary.org/obo/SYMP_0000415 amaurosis fugax http://purl.obolibrary.org/obo/SYMP_0000416 amaurosis http://purl.obolibrary.org/obo/SYMP_0000254 dilated pupil http://purl.obolibrary.org/obo/SYMP_0000417 pupil symptom http://purl.obolibrary.org/obo/SYMP_0000418 contracted pupil http://purl.obolibrary.org/obo/SYMP_0000417 pupil symptom http://purl.obolibrary.org/obo/SYMP_0000419 miosis http://purl.obolibrary.org/obo/SYMP_0000418 contracted pupil http://purl.obolibrary.org/obo/SYMP_0000611 periumbilic abdominal pain http://purl.obolibrary.org/obo/SYMP_0000457 abdominal pain http://purl.obolibrary.org/obo/SYMP_0000648 tenesmus http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/SYMP_0000311 intestinal hypermotility http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/SYMP_0000725 necrosis of jejunum http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/SYMP_0000702 distended loops of intestines on rectal http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/SYMP_0000255 diminished gastro-intestinal motility http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/SYMP_0000639 rectorrhagia http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/SYMP_0000509 flatulence http://purl.obolibrary.org/obo/SYMP_0000459 digestive system symptom http://purl.obolibrary.org/obo/SYMP_0000001 abdominal cramp http://purl.obolibrary.org/obo/SYMP_0000461 abdominal symptom http://purl.obolibrary.org/obo/SYMP_0020012 weight symptom http://purl.obolibrary.org/obo/SYMP_0000473 nutrition, metabolism, and development symptom http://purl.obolibrary.org/obo/SYMP_0000553 neurologic neglect syndrome http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/SYMP_0000124 seizure http://purl.obolibrary.org/obo/SYMP_0000480 nervous system symptom http://purl.obolibrary.org/obo/SYMP_0000743 blotchy red rash http://purl.obolibrary.org/obo/SYMP_0000487 rash http://purl.obolibrary.org/obo/SYMP_0000693 decreased facial sensation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0000556 localized superficial lump http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0020020 abnormal scar formation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0000017 crinkle http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0000536 disturbance of skin sensation http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0000818 localized superficial mass http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0000184 change in skin color http://purl.obolibrary.org/obo/SYMP_0000488 skin and integumentary tissue symptom http://purl.obolibrary.org/obo/SYMP_0000130 severe headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/SYMP_0000630 frontal headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/SYMP_0000684 bifrontal headache http://purl.obolibrary.org/obo/SYMP_0000504 headache http://purl.obolibrary.org/obo/SYMP_0000082 lesions in lung http://purl.obolibrary.org/obo/SYMP_0000514 respiratory system and chest symptom http://purl.obolibrary.org/obo/SYMP_0000292 heart failure http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/SYMP_0000357 postphlebitic ulcer http://purl.obolibrary.org/obo/SYMP_0000528 cardiovascular system symptom http://purl.obolibrary.org/obo/SYMP_0000298 hoarse voice http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/SYMP_0000574 aphonia http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/SYMP_0000704 dysphonia http://purl.obolibrary.org/obo/SYMP_0000559 voice disturbance http://purl.obolibrary.org/obo/SYMP_0020063 blood pressure http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000015 giddiness http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000566 sleep disturbance http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000411 infant symptom http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000672 abscess http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000177 weakness http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000651 discharge http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0000689 cramp http://purl.obolibrary.org/obo/SYMP_0000567 general symptom http://purl.obolibrary.org/obo/SYMP_0020011 bloody diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/SYMP_0000228 hemorrhagic diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/SYMP_0000376 severe diarrhea http://purl.obolibrary.org/obo/SYMP_0000570 diarrhea http://purl.obolibrary.org/obo/SYMP_0000754 severe chest pain http://purl.obolibrary.org/obo/SYMP_0000576 chest pain http://purl.obolibrary.org/obo/SYMP_0000387 head symptom http://purl.obolibrary.org/obo/SYMP_0000597 head and neck symptom http://purl.obolibrary.org/obo/SYMP_0000671 sudden onset of fever http://purl.obolibrary.org/obo/SYMP_0000613 fever http://purl.obolibrary.org/obo/SYMP_0000627 disturbed vision http://purl.obolibrary.org/obo/SYMP_0000628 vision distortion http://purl.obolibrary.org/obo/SYMP_0000189 postural reaction http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/SYMP_0000618 abnormal posture http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/SYMP_0000694 decreased jaw tone http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/SYMP_0000713 inability to lie flat http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/SYMP_0000617 torticollis http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/SYMP_0000183 muscle symptom http://purl.obolibrary.org/obo/SYMP_0000891 musculoskeletal system symptom http://purl.obolibrary.org/obo/SYMP_0000744 cervical lymphadenopathy http://purl.obolibrary.org/obo/SYMP_0019142 lymphadenopathy http://purl.obolibrary.org/obo/SYMP_0020007 anterior scleral inflammation http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000211 asthenopia http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000212 eye strain http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000239 cornea symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000253 anisocoria http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000281 eye discharge http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000284 fixed pupil http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000301 hypopyon http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000310 inflamed eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000320 vision symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000338 nystagmus http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000417 pupil symptom http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000446 bloodshot eye http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000665 yellow exudate from eyes http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000690 cranial nerve palsies http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000714 intraretinal hemorrhage http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000722 moderate conjuctival injection http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000767 subconjunctival bleeding http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0019164 excessive tearing http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0019165 light sensitivity http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0019172 ocular lesion http://purl.obolibrary.org/obo/SYMP_0019163 eye symptom http://purl.obolibrary.org/obo/SYMP_0000210 photophobia http://purl.obolibrary.org/obo/SYMP_0019165 light sensitivity http://purl.obolibrary.org/obo/NCBITaxon_694002 Betacoronavirus http://purl.obolibrary.org/obo/NCBITaxon_2501931 Orthocoronavirinae http://purl.obolibrary.org/obo/NCBITaxon_1980442 Orthohantavirus http://purl.obolibrary.org/obo/NCBITaxon_2560074 Mammantavirinae http://purl.obolibrary.org/obo/NCBITaxon_2560194 Orthoavulavirus http://purl.obolibrary.org/obo/NCBITaxon_2560069 Avulavirinae http://purl.obolibrary.org/obo/NCBITaxon_2560195 Orthorubulavirus http://purl.obolibrary.org/obo/NCBITaxon_2560080 Rubulavirinae http://purl.obolibrary.org/obo/NCBITaxon_3051375 Orthoavulavirus javaense http://purl.obolibrary.org/obo/NCBITaxon_2560194 Orthoavulavirus http://purl.obolibrary.org/obo/NCBITaxon_234 Brucella http://purl.obolibrary.org/obo/NCBITaxon_2826938 Brucella/Ochrobactrum group http://purl.obolibrary.org/obo/FOODON_00001046 animal seafood product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/FOODON_00001092 vertebrate food product http://purl.obolibrary.org/obo/FOODON_00004242 animal food product http://purl.obolibrary.org/obo/SYMP_0020058 severe bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0020057 bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0020059 suppurative bronchiole inflammation http://purl.obolibrary.org/obo/SYMP_0020057 bronchiole inflammation http://purl.obolibrary.org/obo/NCBITaxon_3046277 Orthoflavivirus flavi http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3048158 Orthoflavivirus japonicum http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3048215 Orthoflavivirus murrayense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3048287 Orthoflavivirus powassanense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3048448 Orthoflavivirus nilense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3048233 Orthoflavivirus omskense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3052465 Orthoflavivirus encephalitidis http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3052468 Orthoflavivirus louisense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3052464 Orthoflavivirus denguei http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3048170 Orthoflavivirus kyasanurense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3048459 Orthoflavivirus zikaense http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3700964 Euflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3044782 Orthoflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3052505 Orthomarburgvirus marburgense http://purl.obolibrary.org/obo/NCBITaxon_3044783 Orthomarburgvirus http://purl.obolibrary.org/obo/NCBITaxon_33743 Kyasanur Forest disease virus http://purl.obolibrary.org/obo/NCBITaxon_3048170 Orthoflavivirus kyasanurense http://purl.obolibrary.org/obo/NCBITaxon_32604 Human betaherpesvirus 6B http://purl.obolibrary.org/obo/NCBITaxon_3050297 Roseolovirus humanbeta6b http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/SO_0002387 5_prime_UTR_uORF_frameshift_variant http://purl.obolibrary.org/obo/SO_0002385 5_prime_UTR_uORF_variant http://purl.obolibrary.org/obo/SO_0002388 5_prime_UTR_uORF_stop_codon_gain_variant http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/SO_0002389 5_prime_UTR_uORF_stop_codon_loss_variant http://purl.obolibrary.org/obo/SO_0002386 5_prime_UTR_uORF_stop_codon_variant http://purl.obolibrary.org/obo/NCBITaxon_6681 Malacostraca http://purl.obolibrary.org/obo/NCBITaxon_3701029 Communostraca http://purl.obolibrary.org/obo/NCBITaxon_235 Brucella abortus http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/NCBITaxon_29459 Brucella melitensis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/NCBITaxon_29461 Brucella suis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/NCBITaxon_36855 Brucella canis http://purl.obolibrary.org/obo/NCBITaxon_3703990 Brucella melitensis group http://purl.obolibrary.org/obo/NCBITaxon_1491 Clostridium botulinum http://purl.obolibrary.org/obo/NCBITaxon_3691983 Clostridium botulinum group http://purl.obolibrary.org/obo/NCBITaxon_7147 Diptera http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/NCBITaxon_7509 Siphonaptera http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/NCBITaxon_3048184 Orthoflavivirus loupingi http://purl.obolibrary.org/obo/NCBITaxon_3703354 Orthoflavivirus mediterranense http://purl.obolibrary.org/obo/NCBITaxon_33342 Paraneoptera http://purl.obolibrary.org/obo/NCBITaxon_3701061 Eumetabola http://purl.obolibrary.org/obo/NCBITaxon_33392 Endopterygota http://purl.obolibrary.org/obo/NCBITaxon_3701061 Eumetabola http://purl.obolibrary.org/obo/NCBITaxon_6199 Cestoda http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/NCBITaxon_6178 Trematoda http://purl.obolibrary.org/obo/NCBITaxon_3695485 Neodermata http://purl.obolibrary.org/obo/NCBITaxon_3703354 Orthoflavivirus mediterranense http://purl.obolibrary.org/obo/NCBITaxon_3700964 Euflavivirus http://purl.obolibrary.org/obo/NCBITaxon_3701029 Communostraca http://purl.obolibrary.org/obo/NCBITaxon_3701028 Altocrustacea http://purl.obolibrary.org/obo/NCBITaxon_3701030 Allotriocarida http://purl.obolibrary.org/obo/NCBITaxon_3701028 Altocrustacea http://purl.obolibrary.org/obo/NCBITaxon_6960 Hexapoda http://purl.obolibrary.org/obo/NCBITaxon_3701030 Allotriocarida http://purl.obolibrary.org/obo/NCBITaxon_6683 Decapoda http://purl.obolibrary.org/obo/NCBITaxon_3701045 Stomatocarida http://purl.obolibrary.org/obo/NCBITaxon_3701063 Panorpida http://purl.obolibrary.org/obo/NCBITaxon_3701062 Aparaglossata http://purl.obolibrary.org/obo/DOID_10472 obsolete candidal pneumonia A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain. http://purl.obolibrary.org/obo/DOID_10508 obsolete Bacillus anthracis pneumonia A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis. http://purl.obolibrary.org/obo/DOID_10510 obsolete influenza virus pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills. http://purl.obolibrary.org/obo/DOID_10527 obsolete Haemophilus influenzae pneumonia A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless. http://purl.obolibrary.org/obo/DOID_10531 obsolete pneumococcal pneumonia A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting. http://purl.obolibrary.org/obo/DOID_10532 obsolete streptococcal pneumonia A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias. http://purl.obolibrary.org/obo/DOID_10535 obsolete coxsackie myocarditis A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart. http://purl.obolibrary.org/obo/DOID_10545 obsolete coxsackievirus infectious disease An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. http://purl.obolibrary.org/obo/DOID_10551 obsolete cerebral toxoplasmosis A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. http://purl.obolibrary.org/obo/DOID_10564 obsolete gangosa of yaws A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue. http://purl.obolibrary.org/obo/DOID_10731 obsolete nodular lung tuberculosis A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. http://purl.obolibrary.org/obo/DOID_1077 obsolete Spirurida infectious disease A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida. http://purl.obolibrary.org/obo/DOID_1078 obsolete Chromadorea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands. http://purl.obolibrary.org/obo/DOID_10902 obsolete pulmonary actinomycosis An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses. http://purl.obolibrary.org/obo/DOID_10910 obsolete echovirus meningitis A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness. http://purl.obolibrary.org/obo/DOID_10911 obsolete echovirus infectious disease An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. http://purl.obolibrary.org/obo/DOID_10919 obsolete transsexualism A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. http://purl.obolibrary.org/obo/DOID_10957 obsolete Enterobacter aerogenes intestinal infectious disease An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers. http://purl.obolibrary.org/obo/DOID_10958 obsolete Salmonella arizonae intestinal infectious disease A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea. http://purl.obolibrary.org/obo/DOID_10959 obsolete Escherichia coli intestinal infectious disease A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting. http://purl.obolibrary.org/obo/DOID_10978 obsolete poliovirus type III nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/DOID_10979 obsolete poliovirus type I nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/DOID_10980 obsolete poliovirus type II nonparalytic poliomyelitis A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. http://purl.obolibrary.org/obo/DOID_11092 obsolete Salmonella gastroenteritis A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness. http://purl.obolibrary.org/obo/DOID_11093 obsolete bacterial gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting. http://purl.obolibrary.org/obo/DOID_11097 obsolete pulmonary syphilis A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever. http://purl.obolibrary.org/obo/DOID_11167 obsolete uterine cervix condylomata acuminata An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts. http://purl.obolibrary.org/obo/DOID_11169 obsolete vaginal condylomata acuminata An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts. http://purl.obolibrary.org/obo/DOID_11170 obsolete vulvar condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts. http://purl.obolibrary.org/obo/DOID_11171 obsolete urethral condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts. http://purl.obolibrary.org/obo/DOID_11172 obsolete anal condylomata acuminata An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts. http://purl.obolibrary.org/obo/DOID_11179 obsolete otitis media with effusion A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. http://purl.obolibrary.org/obo/DOID_11182 obsolete chronic otitis media with effusion A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting. http://purl.obolibrary.org/obo/DOID_11259 obsolete Cytomegalovirus infectious disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. http://purl.obolibrary.org/obo/DOID_11261 obsolete foot and mouth disease A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness. http://purl.obolibrary.org/obo/DOID_11314 obsolete Histoplasma duboisii retinitis An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions. http://purl.obolibrary.org/obo/DOID_11340 obsolete Pneumocystis infectious disease An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. http://purl.obolibrary.org/obo/DOID_11341 obsolete fungal lung infectious disease A lung disease that is a mycosis caused by fungal growth in the lungs. http://purl.obolibrary.org/obo/DOID_11404 obsolete diphtheritic laryngotracheitis A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough. http://purl.obolibrary.org/obo/DOID_11418 obsolete Trichomonas urethritis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination. http://purl.obolibrary.org/obo/DOID_11523 obsolete Clostridium perfringens gastroenteritis A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas. http://purl.obolibrary.org/obo/DOID_11607 obsolete candidal meningitis A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses. http://purl.obolibrary.org/obo/DOID_11680 obsolete ocular onchocerciasis A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness. http://purl.obolibrary.org/obo/DOID_11699 obsolete intrathoracic lymph node tuberculosis A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe. http://purl.obolibrary.org/obo/DOID_11741 obsolete Chlamydophila pneumoniae pneumonia A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress. http://purl.obolibrary.org/obo/DOID_11892 obsolete Amoebozoa infectious disease A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa. http://purl.obolibrary.org/obo/DOID_11893 obsolete cutaneous amebiasis An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body. http://purl.obolibrary.org/obo/DOID_11896 obsolete Acanthamoeba keratitis A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye. http://purl.obolibrary.org/obo/DOID_11897 obsolete Blastocystis hominis infectious disease A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence. http://purl.obolibrary.org/obo/DOID_11902 obsolete cerebral amebiasis An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses. http://purl.obolibrary.org/obo/DOID_11943 obsolete Trichomonas vaginitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. http://purl.obolibrary.org/obo/DOID_11944 obsolete Trichomonas prostatitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis. http://purl.obolibrary.org/obo/DOID_11945 obsolete Trichomonas cystitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color. http://purl.obolibrary.org/obo/DOID_11964 obsolete Histoplasma capsulatum retinitis An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions. http://purl.obolibrary.org/obo/DOID_12017 obsolete group B streptococcal pneumonia A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly. http://purl.obolibrary.org/obo/DOID_12019 obsolete group A streptococcal pneumonia A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst. http://purl.obolibrary.org/obo/DOID_12052 obsolete cryptococcal meningitis A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion. http://purl.obolibrary.org/obo/DOID_12054 obsolete Trypanosoma meningitis A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species. http://purl.obolibrary.org/obo/DOID_12115 obsolete streptococcal pharyngitis A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills. http://purl.obolibrary.org/obo/DOID_12133 obsolete Yersinia enterocolitica intestinal infectious disease A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children). http://purl.obolibrary.org/obo/DOID_12141 obsolete adenovirus meningitis An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion. http://purl.obolibrary.org/obo/DOID_122 obsolete abdominal cancer A cancer by anatomical entitiy that affects the organs in the abdominal cavity. http://purl.obolibrary.org/obo/DOID_1221 obsolete infiltrative lung tuberculosis A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung. http://purl.obolibrary.org/obo/DOID_12210 obsolete Wuchereria bancrofti filariasis A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis. http://purl.obolibrary.org/obo/DOID_12245 obsolete histoplasmosis endocarditis A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. http://purl.obolibrary.org/obo/DOID_12252 obsolete Cushing's syndrome An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. http://purl.obolibrary.org/obo/DOID_12302 obsolete diphtheritic membranous angina A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils. http://purl.obolibrary.org/obo/DOID_12404 obsolete tinea A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin. http://purl.obolibrary.org/obo/DOID_1253 obsolete Enoplea infectious disease A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands. http://purl.obolibrary.org/obo/DOID_12569 obsolete Chagas cardiomyopathy A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death. http://purl.obolibrary.org/obo/DOID_12608 obsolete staphylococcal pneumonia A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. http://purl.obolibrary.org/obo/DOID_12633 obsolete cervicofacial actinomycosis An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. http://purl.obolibrary.org/obo/DOID_12634 obsolete cerebral actinomycosis An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess. http://purl.obolibrary.org/obo/DOID_1265 obsolete genitourinary cancer An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs. http://purl.obolibrary.org/obo/DOID_12710 obsolete Histoplasma duboisii pneumonia An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. http://purl.obolibrary.org/obo/DOID_12739 obsolete bronchial tuberculosis A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways. http://purl.obolibrary.org/obo/DOID_1275 obsolete Pneumovirus infectious disease A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions. http://purl.obolibrary.org/obo/DOID_12763 obsolete classic Kaposi's sarcoma A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet. http://purl.obolibrary.org/obo/DOID_12765 obsolete peritonsillar abscess A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common. http://purl.obolibrary.org/obo/DOID_12773 obsolete endemic African Kaposi's sarcoma A Kaposi's sarcoma that is located_in black Africans. http://purl.obolibrary.org/obo/DOID_12779 obsolete recurrent Kaposi's sarcoma A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes. http://purl.obolibrary.org/obo/DOID_12819 obsolete Clostridium difficile intestinal infectious disease A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain. http://purl.obolibrary.org/obo/DOID_12840 obsolete Ancylostoma ceylanicum ancylostomiasis An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine. http://purl.obolibrary.org/obo/DOID_12888 obsolete Chlamydophila psittaci pneumonia An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum. http://purl.obolibrary.org/obo/DOID_1301 obsolete RNA virus infectious disease A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material. http://purl.obolibrary.org/obo/DOID_13019 obsolete cryptococcal gastroenteritis A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain. http://purl.obolibrary.org/obo/DOID_13020 obsolete pulmonary cryptococcosis A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing. http://purl.obolibrary.org/obo/DOID_13021 obsolete AIDS-related cryptococcosis A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV. http://purl.obolibrary.org/obo/DOID_13032 obsolete Trichomonas balanoposthitis A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin. http://purl.obolibrary.org/obo/DOID_13047 obsolete Ancylostoma braziliense ancylostomiasis An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions. http://purl.obolibrary.org/obo/DOID_13049 obsolete Ancylostoma duodenale ancylostomiasis An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia. http://purl.obolibrary.org/obo/DOID_1305 obsolete AIDS dementia complex A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. http://purl.obolibrary.org/obo/DOID_1306 obsolete HIV encephalopathy An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change. http://purl.obolibrary.org/obo/DOID_13076 obsolete abdominal actinomycosis An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation. http://purl.obolibrary.org/obo/DOID_13077 obsolete cutaneous actinomycosis An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules. http://purl.obolibrary.org/obo/DOID_1308 obsolete AIDS related complex A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss. http://purl.obolibrary.org/obo/DOID_1311 obsolete HIV-associated nephropathy A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (greater than 3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. http://purl.obolibrary.org/obo/DOID_1313 obsolete HIV wasting syndrome An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. http://purl.obolibrary.org/obo/DOID_13149 obsolete tuberculous lung fibrosis A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred). http://purl.obolibrary.org/obo/DOID_13164 obsolete Bordetella pertussis pneumonia A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing. http://purl.obolibrary.org/obo/DOID_13165 obsolete Aspergillus pneumonia An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever. http://purl.obolibrary.org/obo/DOID_13251 obsolete HIV enteropathy A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12. http://purl.obolibrary.org/obo/DOID_13257 obsolete Histoplasma duboisii endocarditis An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. http://purl.obolibrary.org/obo/DOID_13273 obsolete Escherichia coli pneumonia A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages. http://purl.obolibrary.org/obo/DOID_13274 obsolete enzootic pneumonia of calves A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms. http://purl.obolibrary.org/obo/DOID_13275 obsolete rickettsial pneumonia A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema. http://purl.obolibrary.org/obo/DOID_13277 obsolete Mycoplasma hyopneumoniae pneumonia A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough. http://purl.obolibrary.org/obo/DOID_13278 obsolete Salmonella pneumonia A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation. http://purl.obolibrary.org/obo/DOID_13285 obsolete enteroinvasive Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever. http://purl.obolibrary.org/obo/DOID_13305 obsolete anterior nasal diphtheria A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy. http://purl.obolibrary.org/obo/DOID_13307 obsolete pseudomembranous diphtheritic conjunctivitis A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane. http://purl.obolibrary.org/obo/DOID_13308 obsolete diphtheritic myocarditis A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae. http://purl.obolibrary.org/obo/DOID_13309 obsolete nasopharyngeal diphtheria A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic bullneck apprearance. http://purl.obolibrary.org/obo/DOID_1332 obsolete Bunyaviridae infectious disease A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors. http://purl.obolibrary.org/obo/DOID_1333 obsolete african horse sickness A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue. http://purl.obolibrary.org/obo/DOID_13335 obsolete Toxoplasma hepatitis A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice. http://purl.obolibrary.org/obo/DOID_13338 obsolete Toxoplasma myocarditis A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain. http://purl.obolibrary.org/obo/DOID_1334 obsolete Reoviridae infectious disease A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses. http://purl.obolibrary.org/obo/DOID_13342 obsolete Toxoplasma pneumonia A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales. http://purl.obolibrary.org/obo/DOID_13343 obsolete ocular toxoplasmosis A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness. http://purl.obolibrary.org/obo/DOID_1335 obsolete bluetongue A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue. http://purl.obolibrary.org/obo/DOID_1336 obsolete Nairobi sheep disease A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration. http://purl.obolibrary.org/obo/DOID_13459 obsolete secondary syphilitic hepatitis A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions. http://purl.obolibrary.org/obo/DOID_13470 obsolete primary anal syphilis A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum. http://purl.obolibrary.org/obo/DOID_13526 obsolete candidal endocarditis A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly. http://purl.obolibrary.org/obo/DOID_13527 obsolete candidal otitis externa A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis. http://purl.obolibrary.org/obo/DOID_13528 obsolete candidal enteritis A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration. http://purl.obolibrary.org/obo/DOID_13601 obsolete enteropathogenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea. http://purl.obolibrary.org/obo/DOID_13623 obsolete staphylococcal enterocolitis A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea. http://purl.obolibrary.org/obo/DOID_13663 obsolete acute suppurative otitis media with tympanic membrane intact A purulent acute otitis media with no perforation of the tympanic membrane. http://purl.obolibrary.org/obo/DOID_13720 obsolete Schistosoma mattheei infectious disease A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei. http://purl.obolibrary.org/obo/DOID_13723 obsolete Schistosoma bovis infectious disease A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis. http://purl.obolibrary.org/obo/DOID_13734 obsolete AIDS-related Pneumocystis jirovecii pneumonia A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV. http://purl.obolibrary.org/obo/DOID_13753 obsolete Histoplasma duboisii meningitis An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. http://purl.obolibrary.org/obo/DOID_13754 obsolete Histoplasma capsulatum meningitis An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. http://purl.obolibrary.org/obo/DOID_13755 obsolete Histoplasma duboisii pericarditis An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. http://purl.obolibrary.org/obo/DOID_13762 obsolete bovine trypanosomiasis A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss. http://purl.obolibrary.org/obo/DOID_13763 obsolete dourine A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs. http://purl.obolibrary.org/obo/DOID_13979 obsolete primary pulmonary coccidioidomycosis A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules. http://purl.obolibrary.org/obo/DOID_13980 obsolete coccidioidal meningitis A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus. http://purl.obolibrary.org/obo/DOID_14311 obsolete Norovirus gastroenteritis A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever. http://purl.obolibrary.org/obo/DOID_14326 obsolete avian malaria A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia. http://purl.obolibrary.org/obo/DOID_14338 obsolete Pseudomonal pneumonia A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias. http://purl.obolibrary.org/obo/DOID_14360 obsolete Opisthorchis viverrini infectious disease A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. http://purl.obolibrary.org/obo/DOID_14419 obsolete Mansonella ozzardi infectious disease A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease. http://purl.obolibrary.org/obo/DOID_14421 obsolete Brugia malayi filariasis A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection. http://purl.obolibrary.org/obo/DOID_14433 obsolete enterohemorrhagic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge. http://purl.obolibrary.org/obo/DOID_14434 obsolete enterotoxigenic Escherichia coli infectious disease An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever. http://purl.obolibrary.org/obo/DOID_14473 obsolete adenovirus pneumonia An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells. http://purl.obolibrary.org/obo/DOID_14474 obsolete respiratory syncytial virus pneumonia A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium. http://purl.obolibrary.org/obo/DOID_14475 obsolete parainfluenzal pneumonia A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever. http://purl.obolibrary.org/obo/DOID_14476 obsolete SARS coronavirus pneumonia A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure. http://purl.obolibrary.org/obo/DOID_14477 obsolete Cytomegalovirus pneumonia A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies. http://purl.obolibrary.org/obo/DOID_14520 obsolete adenovirus gastroenteritis An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever. http://purl.obolibrary.org/obo/DOID_1492 obsolete eye and adnexa disease A sensory system disease that is located_in the eye or the adnexa of the eye. http://purl.obolibrary.org/obo/DOID_153 obsolete fibroepithelial neoplasm A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue. http://purl.obolibrary.org/obo/DOID_157 obsolete epithelial carcinoma A carcinoma that derives_from the cells that line an organ. http://purl.obolibrary.org/obo/DOID_1665 obsolete central nervous system embryonal cancer An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord. http://purl.obolibrary.org/obo/DOID_1730 obsolete histoplasmosis pneumonia A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. http://purl.obolibrary.org/obo/DOID_1734 obsolete viral gastroenteritis A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting. http://purl.obolibrary.org/obo/DOID_338 obsolete cranial nerve neoplasm A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. http://purl.obolibrary.org/obo/DOID_4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. http://purl.obolibrary.org/obo/HP_0003674 onset The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/DOID_0111372 obsolete autosomal dominant endosteal hyperostosis An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.2. http://purl.obolibrary.org/obo/DOID_0051079 obsolete monogenic chronic kidney disease A chronic kidney disease that has_material_basis_in a mutation in a single gene. http://purl.obolibrary.org/obo/SYMP_0000462 symptom A symptom is a perceived change in function, sensation, loss, disturbance or appearance reported by a patient indicative of a disease. http://purl.obolibrary.org/obo/TRANS_0000000 transmission process A process that is the means during which the pathogen is transmitted directly or indirectly from its natural reservoir, a susceptible host or source to a new host. http://purl.obolibrary.org/obo/DOID_0111201 obsolete distal hereditary motor neuronopathy type 7A A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. http://purl.obolibrary.org/obo/DOID_0111204 obsolete distal hereditary motor neuronopathy type 5A A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3. http://purl.obolibrary.org/obo/DOID_0111208 obsolete distal hereditary motor neuronopathy type 2A A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23. http://purl.obolibrary.org/obo/DOID_0090121 obsolete apparent mineralocorticoid excess An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. http://purl.obolibrary.org/obo/DOID_0070075 obsolete Kleefstra Syndrome An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3. http://purl.obolibrary.org/obo/DOID_0070076 obsolete Koolen-De Vries syndrome An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31. http://purl.obolibrary.org/obo/DOID_0070101 obsolete Noonan syndrome 1 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13. http://purl.obolibrary.org/obo/DOID_0070102 obsolete Noonan syndrome 2 A Noonan syndrome that has_material_basis_in an autosomal recessive mutation. http://purl.obolibrary.org/obo/DOID_0070103 obsolete Noonan syndrome 3 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1. http://purl.obolibrary.org/obo/DOID_0070104 obsolete Noonan syndrome 4 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1. http://purl.obolibrary.org/obo/DOID_0070105 obsolete Noonan syndrome 5 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2. http://purl.obolibrary.org/obo/DOID_0070106 obsolete Noonan syndrome 6 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2. http://purl.obolibrary.org/obo/DOID_0070107 obsolete Noonan syndrome 7 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34. http://purl.obolibrary.org/obo/DOID_0070108 obsolete Noonan syndrome 8 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22. http://purl.obolibrary.org/obo/DOID_0070109 obsolete Noonan syndrome 9 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3. http://purl.obolibrary.org/obo/DOID_0070110 obsolete Noonan syndrome 10 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21. http://purl.obolibrary.org/obo/DOID_0081119 obsolete benign familial infantile seizures 6 A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. http://purl.obolibrary.org/obo/DOID_0081376 obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. http://purl.obolibrary.org/obo/ECO_0000000 evidence A type of information that is used to support an assertion. http://purl.obolibrary.org/obo/DOID_0070190 obsolete autosomal dominant chronic granulomatous disease A chronic granulomatous disease characterized by autosomal dominant inheritance. http://purl.obolibrary.org/obo/DOID_0070312 obsolete Peters-Plus Syndrome A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability. http://purl.obolibrary.org/obo/DOID_0111292 obsolete idiopathic generalized epilepsy 10 An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. http://purl.obolibrary.org/obo/DOID_0111312 obsolete idiopathic generalized epilepsy 11 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1. http://purl.obolibrary.org/obo/DOID_0111313 obsolete idiopathic generalized epilepsy 12 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2. http://purl.obolibrary.org/obo/DOID_0111314 obsolete idiopathic generalized epilepsy 13 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. http://purl.obolibrary.org/obo/DOID_0111315 obsolete idiopathic generalized epilepsy 14 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12. http://purl.obolibrary.org/obo/DOID_0111316 obsolete idiopathic generalized epilepsy 15 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13. http://purl.obolibrary.org/obo/DOID_0111317 obsolete idiopathic generalized epilepsy 2 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23. http://purl.obolibrary.org/obo/DOID_0111318 obsolete idiopathic generalized epilepsy 3 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33. http://purl.obolibrary.org/obo/DOID_0111319 obsolete idiopathic generalized epilepsy 4 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26. http://purl.obolibrary.org/obo/DOID_0111320 obsolete idiopathic generalized epilepsy 5 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22. http://purl.obolibrary.org/obo/DOID_0111321 obsolete idiopathic generalized epilepsy 7 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. http://purl.obolibrary.org/obo/DOID_0111322 obsolete idiopathic generalized epilepsy 8 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. http://purl.obolibrary.org/obo/DOID_0111323 obsolete idiopathic generalized epilepsy 9 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. http://purl.obolibrary.org/obo/DOID_0080701 obsolete prothrombin thrombophilia A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. http://purl.obolibrary.org/obo/DOID_0060963 obsolete dystonia, DOPA-responsive A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. http://purl.obolibrary.org/obo/DOID_0080191 obsolete PTEN hamartoma tumor syndrome A syndrome comprised of a spectrum of related disorders characterized by the formation of hamartomas, overgrowth, and predisposition to cancer that has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. http://purl.obolibrary.org/obo/DOID_0110952 obsolete Waardenburg syndrome type 2D A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11. http://purl.obolibrary.org/obo/DOID_0111794 obsolete congenital nystagmus 4 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33. http://purl.obolibrary.org/obo/DOID_0111810 obsolete syndromic microphthalmia 4 A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28. http://purl.obolibrary.org/obo/DISDRIV_0000000 disease driver Environmental or genetic mechanisms driving the occurrance of complex diseases. http://purl.obolibrary.org/obo/DOID_0081164 obsolete dilated cardiomyopathy 3B A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21. http://purl.obolibrary.org/obo/DOID_0061095 obsolete immunodeficiency 130 A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. http://purl.obolibrary.org/obo/DOID_0111612 obsolete autosomal recessive spinocerebellar ataxia 3 An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. http://purl.obolibrary.org/obo/DOID_0080713 obsolete MECP2 duplication syndrome A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking. http://purl.obolibrary.org/obo/DOID_10437 obsolete metastasis to lymph node http://purl.obolibrary.org/obo/DOID_1044 obsolete nontraumatic rupture of muscle http://purl.obolibrary.org/obo/DOID_10447 obsolete thyroid dysfunction complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_1045 obsolete fascia disease http://purl.obolibrary.org/obo/DOID_10469 obsolete diabetes mellitus juvenile type, uncontrolled, with neurological manifestations http://purl.obolibrary.org/obo/DOID_1047 obsolete Mental disorder complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_10473 obsolete wrist or carpus enthesopathy http://purl.obolibrary.org/obo/DOID_10483 obsolete hypertonic, incoordinate, or prolonged uterine contractions http://purl.obolibrary.org/obo/DOID_10489 obsolete transient disorder of initiating or maintaining wakefulness http://purl.obolibrary.org/obo/DOID_10494 obsolete pulmonary valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_10501 obsolete menopausal and postmenopausal disorder http://purl.obolibrary.org/obo/DOID_10505 obsolete generalized nonconvulsive epilepsy disease http://purl.obolibrary.org/obo/DOID_10521 obsolete pinna disease http://purl.obolibrary.org/obo/DOID_10528 obsolete Haemophilus influenzae infectious disease http://purl.obolibrary.org/obo/DOID_10529 obsolete primary Haemophilus infectious disease http://purl.obolibrary.org/obo/DOID_1053 obsolete developmental dislocation of joint http://purl.obolibrary.org/obo/DOID_10537 obsolete recurrent malignant gastric neoplasm http://purl.obolibrary.org/obo/DOID_1054 obsolete glaucoma associated with chamber angle anomalies http://purl.obolibrary.org/obo/DOID_10549 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations http://purl.obolibrary.org/obo/DOID_1055 obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes http://purl.obolibrary.org/obo/DOID_10557 obsolete maternal distress http://purl.obolibrary.org/obo/DOID_10561 obsolete yaws hyperkeratosis http://purl.obolibrary.org/obo/DOID_10569 obsolete myopathy of critical illness http://purl.obolibrary.org/obo/DOID_1057 obsolete inborn amino acid transport disorder http://purl.obolibrary.org/obo/DOID_10574 obsolete vitamin D deficiency http://purl.obolibrary.org/obo/DOID_1058 obsolete amino acid transport disease http://purl.obolibrary.org/obo/DOID_10585 obsolete hereditary and idiopathic peripheral neuropathy http://purl.obolibrary.org/obo/DOID_10594 obsolete idiopathic neuropathy http://purl.obolibrary.org/obo/DOID_10597 obsolete gonococcal meningitis http://purl.obolibrary.org/obo/DOID_10602 obsolete steatorrhea http://purl.obolibrary.org/obo/DOID_1061 obsolete renal aminoaciduria http://purl.obolibrary.org/obo/DOID_10621 obsolete Fissure of nipple associated with childbirth http://purl.obolibrary.org/obo/DOID_10626 obsolete insulin dependent type diabetes mellitus uncontrolled with ketoacidosis http://purl.obolibrary.org/obo/DOID_10630 obsolete optic atrophy associated with retinal dystrophy http://purl.obolibrary.org/obo/DOID_10645 obsolete chronic state latent schizophrenia with acute exacerbation http://purl.obolibrary.org/obo/DOID_10659 obsolete colonic ganglioneuroma http://purl.obolibrary.org/obo/DOID_10689 obsolete galactorrhea not associated with childbirth http://purl.obolibrary.org/obo/DOID_10708 obsolete passive-aggressive personality disorder http://purl.obolibrary.org/obo/DOID_10717 obsolete meningococcal septicemia http://purl.obolibrary.org/obo/DOID_10747 obsolete lymphoid leukemia http://purl.obolibrary.org/obo/DOID_1075 obsolete chronic pyelonephritis with lesion of renal medullary necrosis http://purl.obolibrary.org/obo/DOID_10760 obsolete choroidal rupture http://purl.obolibrary.org/obo/DOID_10764 obsolete liver abscess and sequelae of chronic liver disease http://purl.obolibrary.org/obo/DOID_10774 obsolete cutaneous plague http://purl.obolibrary.org/obo/DOID_10788 obsolete osteitis condensans http://purl.obolibrary.org/obo/DOID_10795 obsolete congenital syphilitic encephalitis http://purl.obolibrary.org/obo/DOID_10803 obsolete Haemophilus influenzae meningitis http://purl.obolibrary.org/obo/DOID_10815 obsolete recurrent duodenal cancer http://purl.obolibrary.org/obo/DOID_10818 obsolete leptospiral meningitis http://purl.obolibrary.org/obo/DOID_10827 obsolete gender identity disorder in adolescent or adult http://purl.obolibrary.org/obo/DOID_10836 obsolete diabetes mellitus with hyperosmolarity http://purl.obolibrary.org/obo/DOID_10837 obsolete diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled http://purl.obolibrary.org/obo/DOID_10838 obsolete diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled http://purl.obolibrary.org/obo/DOID_10848 obsolete intrauterine hypoxia and birth asphyxia http://purl.obolibrary.org/obo/DOID_1086 obsolete congenital chromosomal disease http://purl.obolibrary.org/obo/DOID_10875 obsolete premature labor http://purl.obolibrary.org/obo/DOID_10877 obsolete disorganized type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_10901 obsolete leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb http://purl.obolibrary.org/obo/DOID_10918 obsolete transsexuality with asexual history http://purl.obolibrary.org/obo/DOID_10922 obsolete sickle-cell crisis http://purl.obolibrary.org/obo/DOID_10924 obsolete catatonic type schizophrenia chronic state http://purl.obolibrary.org/obo/DOID_10925 obsolete catatonic schizophrenia http://purl.obolibrary.org/obo/DOID_1097 obsolete hydrops fetalis http://purl.obolibrary.org/obo/DOID_10998 obsolete chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_11000 obsolete progressive iris atrophy http://purl.obolibrary.org/obo/DOID_11001 obsolete Iris and ciliary body degeneration http://purl.obolibrary.org/obo/DOID_11002 obsolete Iridoschisis http://purl.obolibrary.org/obo/DOID_11003 obsolete pupillary margin miotic cyst http://purl.obolibrary.org/obo/DOID_11005 obsolete Atrophy of sphincter of iris http://purl.obolibrary.org/obo/DOID_11018 obsolete postsurgical testicular hypofunction http://purl.obolibrary.org/obo/DOID_11019 obsolete testicular dysfunction http://purl.obolibrary.org/obo/DOID_11020 obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_11027 obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis http://purl.obolibrary.org/obo/DOID_1103 obsolete malignant esophageal neoplasm by topographic region http://purl.obolibrary.org/obo/DOID_1105 obsolete esophageal metastasis http://purl.obolibrary.org/obo/DOID_11056 obsolete Pasteurella hemorrhagic septicemia http://purl.obolibrary.org/obo/DOID_11074 obsolete cyst of thyroid http://purl.obolibrary.org/obo/DOID_1109 obsolete extracutaneous melanoma http://purl.obolibrary.org/obo/DOID_11091 obsolete perinatal respiratory disorder http://purl.obolibrary.org/obo/DOID_11096 obsolete renal syphilis http://purl.obolibrary.org/obo/DOID_11099 obsolete primary Rickettsiaceae infectious disease http://purl.obolibrary.org/obo/DOID_1110 obsolete gastrointestinal melanoma http://purl.obolibrary.org/obo/DOID_11106 obsolete glaucoma associated with anterior segment anomaly http://purl.obolibrary.org/obo/DOID_11107 obsolete glaucoma associated with ocular disorder http://purl.obolibrary.org/obo/DOID_1111 obsolete malignant neoplasm of cervical part of esophagus http://purl.obolibrary.org/obo/DOID_11110 obsolete psychosexual dysfunction with female orgasmic disease http://purl.obolibrary.org/obo/DOID_11118 obsolete syphilitic retrobulbar neuritis http://purl.obolibrary.org/obo/DOID_1112 obsolete neck cancer http://purl.obolibrary.org/obo/DOID_1113 obsolete malignant esophageal neoplasm by anatomic region http://purl.obolibrary.org/obo/DOID_11144 obsolete anthrax septicemia http://purl.obolibrary.org/obo/DOID_11145 obsolete Pars plana primary cyst http://purl.obolibrary.org/obo/DOID_11147 obsolete vascular lesions of cord complicating labor and delivery http://purl.obolibrary.org/obo/DOID_11150 obsolete glaucoma due to raised episcleral venous pressure http://purl.obolibrary.org/obo/DOID_11158 obsolete disorder of optic chiasm associated with non-pituitary neoplasm http://purl.obolibrary.org/obo/DOID_11163 obsolete apnea of prematurity http://purl.obolibrary.org/obo/DOID_11183 obsolete Haemophilus influenzae septicemia http://purl.obolibrary.org/obo/DOID_1119 obsolete large for dates affecting management of mother http://purl.obolibrary.org/obo/DOID_11215 obsolete premature rupture of the fetal membranes http://purl.obolibrary.org/obo/DOID_1122 obsolete spinal enthesopathy http://purl.obolibrary.org/obo/DOID_11248 obsolete hemorrhagic disease of newborn http://purl.obolibrary.org/obo/DOID_11264 obsolete Chlamydophila infectious disease http://purl.obolibrary.org/obo/DOID_11268 obsolete vitamin A deficiency with keratomalacia http://purl.obolibrary.org/obo/DOID_11271 obsolete hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium http://purl.obolibrary.org/obo/DOID_11275 obsolete muscle syphilis http://purl.obolibrary.org/obo/DOID_11284 obsolete disseminated scars of retina http://purl.obolibrary.org/obo/DOID_11286 obsolete neuromuscular junction toxic disorder http://purl.obolibrary.org/obo/DOID_11287 obsolete conditions involving the integument and temperature regulation of fetus and newborn http://purl.obolibrary.org/obo/DOID_113 obsolete pneumopericardium http://purl.obolibrary.org/obo/DOID_11307 obsolete subchronic state latent schizophrenia with acute exacerbation http://purl.obolibrary.org/obo/DOID_11308 obsolete latent schizophrenia in remission http://purl.obolibrary.org/obo/DOID_11309 obsolete chronic latent schizophrenia http://purl.obolibrary.org/obo/DOID_11327 obsolete acute schizophrenic episode subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_11346 obsolete congenital osteodystrophy http://purl.obolibrary.org/obo/DOID_11347 obsolete Meniere's disease in remission http://purl.obolibrary.org/obo/DOID_11349 obsolete epilepsia partialis continua http://purl.obolibrary.org/obo/DOID_11350 obsolete grand mal status epilepticus http://purl.obolibrary.org/obo/DOID_11352 obsolete epilepsia partialis continua with intractable epilepsy http://purl.obolibrary.org/obo/DOID_11361 obsolete tickborne fever http://purl.obolibrary.org/obo/DOID_11377 obsolete calculus of gallbladder and bile duct with acute cholecystitis http://purl.obolibrary.org/obo/DOID_11403 obsolete depressive state induced by drug http://purl.obolibrary.org/obo/DOID_11409 obsolete syphilitic disseminated chorioretinitis http://purl.obolibrary.org/obo/DOID_1141 obsolete alternating exotropia with V pattern http://purl.obolibrary.org/obo/DOID_11421 obsolete acquired cavovarus foot deformity http://purl.obolibrary.org/obo/DOID_11436 obsolete recurrent cholesteatoma post-mastoidectomy http://purl.obolibrary.org/obo/DOID_11441 obsolete macrodactylia of toes http://purl.obolibrary.org/obo/DOID_11442 obsolete malignant mast cell tumors involving lymph node of head http://purl.obolibrary.org/obo/DOID_11451 obsolete secondary syphilitic meningitis http://purl.obolibrary.org/obo/DOID_11489 obsolete vitamin A deficiency with conjunctival xerosis and Bitot's spot http://purl.obolibrary.org/obo/DOID_11490 obsolete vitamin A deficiency with night blindness http://purl.obolibrary.org/obo/DOID_1150 obsolete bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_11524 obsolete Hyphema of iris and ciliary body http://purl.obolibrary.org/obo/DOID_11525 obsolete Iris and ciliary body vascular disorder http://purl.obolibrary.org/obo/DOID_11535 obsolete dysplasia of prostate http://purl.obolibrary.org/obo/DOID_11575 obsolete pneumococcal meningitis http://purl.obolibrary.org/obo/DOID_11578 obsolete Escherichia coli meningitis http://purl.obolibrary.org/obo/DOID_11582 obsolete syphilitic aortitis http://purl.obolibrary.org/obo/DOID_11584 obsolete acute schizophrenic episode in remission http://purl.obolibrary.org/obo/DOID_11597 obsolete cold injury syndrome of newborn http://purl.obolibrary.org/obo/DOID_11600 obsolete secondary malignant neoplasm of lymph nodes of multiple site http://purl.obolibrary.org/obo/DOID_11604 obsolete idiopathic hydrops fetalis http://purl.obolibrary.org/obo/DOID_11606 obsolete ileal disease http://purl.obolibrary.org/obo/DOID_11649 obsolete transitory tachypnea of newborn http://purl.obolibrary.org/obo/DOID_11654 obsolete nevus of ota http://purl.obolibrary.org/obo/DOID_11662 obsolete color vision defect http://purl.obolibrary.org/obo/DOID_11683 obsolete glaucoma associated with systemic syndromes http://purl.obolibrary.org/obo/DOID_11696 obsolete chronic hypomanic disorder http://purl.obolibrary.org/obo/DOID_11705 obsolete impaired renal function disease http://purl.obolibrary.org/obo/DOID_11711 obsolete Pregnancy in Diabetics http://purl.obolibrary.org/obo/DOID_11730 obsolete Borrelia infectious disease http://purl.obolibrary.org/obo/DOID_11732 obsolete syphilitic myocarditis http://purl.obolibrary.org/obo/DOID_11733 obsolete syphilitic aortic aneurysm http://purl.obolibrary.org/obo/DOID_11734 obsolete syphilitic pericarditis http://purl.obolibrary.org/obo/DOID_11735 obsolete single manic episode in full remission http://purl.obolibrary.org/obo/DOID_11753 obsolete biliary calculus with acute cholecystitis http://purl.obolibrary.org/obo/DOID_11756 obsolete calculus of bile duct with acute cholecystitis http://purl.obolibrary.org/obo/DOID_11770 obsolete hypersecretion of testicular hormones http://purl.obolibrary.org/obo/DOID_11775 obsolete hereditary trophedema http://purl.obolibrary.org/obo/DOID_11802 obsolete protein deficiency http://purl.obolibrary.org/obo/DOID_11806 obsolete macrodactylia of fingers http://purl.obolibrary.org/obo/DOID_11810 obsolete metastatic neoplasm to the bladder http://purl.obolibrary.org/obo/DOID_11815 obsolete recurrent malignant bladder neoplasm http://purl.obolibrary.org/obo/DOID_11828 obsolete visual cortex disorder due to vascular disorder http://purl.obolibrary.org/obo/DOID_1183 obsolete nephrotic syndrome with lesion of membranoproliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_11837 obsolete malignant neoplasm of scapula and long bones of upper limb http://purl.obolibrary.org/obo/DOID_11849 obsolete degenerative changes of ciliary body http://purl.obolibrary.org/obo/DOID_11852 obsolete aortic valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_11854 obsolete monocular exotropia with A pattern http://purl.obolibrary.org/obo/DOID_11855 obsolete intermittent monocular exotropia http://purl.obolibrary.org/obo/DOID_11856 obsolete monocular exotropia with V pattern http://purl.obolibrary.org/obo/DOID_11861 obsolete prolonged pregnancy http://purl.obolibrary.org/obo/DOID_11862 obsolete late pregnancy http://purl.obolibrary.org/obo/DOID_11868 obsolete chronic erythremia http://purl.obolibrary.org/obo/DOID_11872 obsolete Staphylococcus aureus septicemia http://purl.obolibrary.org/obo/DOID_11873 obsolete staphylococcal septicemia http://purl.obolibrary.org/obo/DOID_11939 obsolete schizo-affective type schizophrenia subchronic state http://purl.obolibrary.org/obo/DOID_11946 obsolete habitual abortion http://purl.obolibrary.org/obo/DOID_11947 obsolete recurrent major depression in complete remission http://purl.obolibrary.org/obo/DOID_11950 obsolete Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_11952 obsolete Congenital cardiovascular disorder of mother, with delivery http://purl.obolibrary.org/obo/DOID_11954 obsolete psychosexual dysfunction with inhibited sexual excitement http://purl.obolibrary.org/obo/DOID_11955 obsolete malnutrition of moderate degree http://purl.obolibrary.org/obo/DOID_11970 obsolete symptomatic menopausal or female climacteric state http://purl.obolibrary.org/obo/DOID_11977 obsolete disorder of magnesium metabolism http://purl.obolibrary.org/obo/DOID_11978 obsolete chronic pyelonephritis without lesion of renal medullary necrosis http://purl.obolibrary.org/obo/DOID_11987 obsolete anorectal gonorrhea http://purl.obolibrary.org/obo/DOID_12000 obsolete secondary malignant neoplasm of trachea http://purl.obolibrary.org/obo/DOID_12020 obsolete malignant neoplasm of corpus uteri, except isthmus http://purl.obolibrary.org/obo/DOID_12021 obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes http://purl.obolibrary.org/obo/DOID_12022 obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease http://purl.obolibrary.org/obo/DOID_1204 obsolete arthropathy due to hypersensitivity reaction http://purl.obolibrary.org/obo/DOID_12040 obsolete immune hydrops fetalis http://purl.obolibrary.org/obo/DOID_12056 obsolete meningitis with clear cerebrospinal fluid http://purl.obolibrary.org/obo/DOID_12058 obsolete Fetal-maternal hemorrhage affecting management of mother http://purl.obolibrary.org/obo/DOID_12061 obsolete fetal blood loss http://purl.obolibrary.org/obo/DOID_12065 obsolete ganglioneuroma of the mediastinum http://purl.obolibrary.org/obo/DOID_12076 obsolete interstitial emphysema and related conditions of newborn http://purl.obolibrary.org/obo/DOID_12091 obsolete vitamin A deficiency with corneal xerosis http://purl.obolibrary.org/obo/DOID_12092 obsolete Galactorrhea associated with childbirth http://purl.obolibrary.org/obo/DOID_12097 obsolete rat-bite fever http://purl.obolibrary.org/obo/DOID_12104 obsolete vitamin A deficiency with corneal xerosis and ulcer http://purl.obolibrary.org/obo/DOID_12106 obsolete tricuspid valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_12107 obsolete primary retinal cyst http://purl.obolibrary.org/obo/DOID_12111 obsolete vitamin A deficiency with xerophthalmic corneal scar http://purl.obolibrary.org/obo/DOID_12113 obsolete nerve deafness http://purl.obolibrary.org/obo/DOID_12121 obsolete secondary syphilitic periostitis http://purl.obolibrary.org/obo/DOID_1213 obsolete Tympanosclerosis of tympanic membrane and ossicles http://purl.obolibrary.org/obo/DOID_12135 obsolete acquired factor VIII deficiency http://purl.obolibrary.org/obo/DOID_12136 obsolete acquired coagulation factor deficiency http://purl.obolibrary.org/obo/DOID_1215 obsolete Tympanosclerosis of tympanic membrane only http://purl.obolibrary.org/obo/DOID_12150 obsolete calculus of gallbladder with acute cholecystitis, with obstruction http://purl.obolibrary.org/obo/DOID_12151 obsolete currently pregnant habitual aborter http://purl.obolibrary.org/obo/DOID_12180 obsolete Fetal Macrosomia http://purl.obolibrary.org/obo/DOID_12189 obsolete metastatic tumor to the colon http://purl.obolibrary.org/obo/DOID_12204 obsolete catatonic schizophrenia in remission http://purl.obolibrary.org/obo/DOID_12221 obsolete Synovial, tendon or bursa disorder http://purl.obolibrary.org/obo/DOID_12223 obsolete specific bursitis often of occupational origin http://purl.obolibrary.org/obo/DOID_12224 obsolete calcium deposits in tendon and bursa http://purl.obolibrary.org/obo/DOID_12226 obsolete hearing disease http://purl.obolibrary.org/obo/DOID_12228 obsolete secondary malignant neoplasm of large intestine and rectum http://purl.obolibrary.org/obo/DOID_12251 obsolete hypoaldosteronism http://purl.obolibrary.org/obo/DOID_12254 obsolete metastatic tumor to the testis http://purl.obolibrary.org/obo/DOID_12255 obsolete congenital adrenal hyperplasia http://purl.obolibrary.org/obo/DOID_12256 obsolete adrenogenital disease http://purl.obolibrary.org/obo/DOID_12258 obsolete acquired factor IX deficiency http://purl.obolibrary.org/obo/DOID_12268 obsolete eclampsia with delivery http://purl.obolibrary.org/obo/DOID_12269 obsolete Toxemia with convulsions complicating pregnancy, childbirth or the puerperium http://purl.obolibrary.org/obo/DOID_12274 obsolete anisometropia and aniseikonia http://purl.obolibrary.org/obo/DOID_1228 obsolete paranoid type schizophrenia in remission http://purl.obolibrary.org/obo/DOID_12284 obsolete maternal pyrexia in labor http://purl.obolibrary.org/obo/DOID_12292 obsolete recurrent malignant endocervical neoplasm http://purl.obolibrary.org/obo/DOID_12301 obsolete speckled lentiginous nevus http://purl.obolibrary.org/obo/DOID_1231 obsolete chronic schizophrenia http://purl.obolibrary.org/obo/DOID_1232 obsolete paranoid type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_12324 obsolete transsexuality with homosexual history http://purl.obolibrary.org/obo/DOID_12338 obsolete redundant prepuce and phimosis http://purl.obolibrary.org/obo/DOID_12346 obsolete hyperkinetic heart syndrome http://purl.obolibrary.org/obo/DOID_12356 obsolete bacterial prostatitis http://purl.obolibrary.org/obo/DOID_12378 obsolete predominant psychomotor disturbance http://purl.obolibrary.org/obo/DOID_12379 obsolete mixed disorder as reaction to stress http://purl.obolibrary.org/obo/DOID_1238 obsolete acute erythremia and erythroleukemia in remission http://purl.obolibrary.org/obo/DOID_12380 obsolete predominant disturbance of consciousness http://purl.obolibrary.org/obo/DOID_1239 obsolete acute erythremia and erythroleukemia http://purl.obolibrary.org/obo/DOID_12392 obsolete leukemic reticuloendotheliosis involving lymph nodes of head, face and neck http://purl.obolibrary.org/obo/DOID_12396 obsolete entropion and trichiasis of eyelid http://purl.obolibrary.org/obo/DOID_12417 obsolete psychogenic dysmenorrhea http://purl.obolibrary.org/obo/DOID_12448 obsolete hematologic pregnancy complication http://purl.obolibrary.org/obo/DOID_1249 obsolete Conjunctival vascular disorder and cysts http://purl.obolibrary.org/obo/DOID_12508 obsolete simple type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_12525 obsolete Lateral cutaneous femoral nerve of thigh compression or syndrome http://purl.obolibrary.org/obo/DOID_12538 obsolete Chlamydia trachomatis pharyngitis http://purl.obolibrary.org/obo/DOID_12539 obsolete Chlamydia trachomatis proctitis http://purl.obolibrary.org/obo/DOID_12541 obsolete catatonic type schizophrenia subchronic state http://purl.obolibrary.org/obo/DOID_12542 obsolete catatonic type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_12543 obsolete catatonic type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_12551 obsolete Escherichia coli septicemia http://purl.obolibrary.org/obo/DOID_12555 obsolete acute renal failure with lesion of renal cortical necrosis http://purl.obolibrary.org/obo/DOID_1257 obsolete Transient hypertension of pregnancy http://purl.obolibrary.org/obo/DOID_12582 obsolete enthesopathy of elbow http://purl.obolibrary.org/obo/DOID_12584 obsolete Diabetes mellitus of mother, with delivery http://purl.obolibrary.org/obo/DOID_12604 obsolete secondary malignant neoplasm of suprarenal gland http://purl.obolibrary.org/obo/DOID_12605 obsolete metastasis to adrenals http://purl.obolibrary.org/obo/DOID_1261 obsolete AIDS-related pelvic inflammatory disease http://purl.obolibrary.org/obo/DOID_12610 obsolete adrenal hemorrhage of fetus or newborn http://purl.obolibrary.org/obo/DOID_12612 obsolete gastrointestinal hemorrhage of fetus or newborn http://purl.obolibrary.org/obo/DOID_12647 obsolete Congenital or acquired abnormality of vulva, with delivery http://purl.obolibrary.org/obo/DOID_12651 obsolete disorder of optic chiasm associated with inflammatory disorder http://purl.obolibrary.org/obo/DOID_12670 obsolete fusion with defective stereopsis http://purl.obolibrary.org/obo/DOID_1269 obsolete thyroid gland tuberculosis http://purl.obolibrary.org/obo/DOID_12694 obsolete hyperemesis gravidarum with metabolic disturbance http://purl.obolibrary.org/obo/DOID_12702 obsolete Rotator cuff shoulder syndrome and allied disorder http://purl.obolibrary.org/obo/DOID_12713 obsolete medullary sponge kidney http://purl.obolibrary.org/obo/DOID_12715 obsolete infectious myositis http://purl.obolibrary.org/obo/DOID_12722 obsolete liver metastasis http://purl.obolibrary.org/obo/DOID_12723 obsolete lung carcinoma metastatic to the liver http://purl.obolibrary.org/obo/DOID_12724 obsolete breast arcinoma metastatic to the liver http://purl.obolibrary.org/obo/DOID_12727 obsolete retroverted incarcerated gravid uterus http://purl.obolibrary.org/obo/DOID_12758 obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid http://purl.obolibrary.org/obo/DOID_12784 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations http://purl.obolibrary.org/obo/DOID_12796 obsolete Posterior synechiae http://purl.obolibrary.org/obo/DOID_128 obsolete vaginal soft tissue tumor http://purl.obolibrary.org/obo/DOID_12838 obsolete secondary thyroid hyperplasia http://purl.obolibrary.org/obo/DOID_12839 obsolete thyrotoxicosis from ectopic thyroid nodule http://purl.obolibrary.org/obo/DOID_12843 obsolete polyneuritis http://purl.obolibrary.org/obo/DOID_12852 obsolete adhesions of drum head to incus http://purl.obolibrary.org/obo/DOID_12853 obsolete adhesions of drum head to promontorium http://purl.obolibrary.org/obo/DOID_12854 obsolete adhesions of drum head to stapes http://purl.obolibrary.org/obo/DOID_12860 obsolete non-neoplastic nevus of skin http://purl.obolibrary.org/obo/DOID_12863 obsolete senile nevus http://purl.obolibrary.org/obo/DOID_12864 obsolete acrosyringeal nevus http://purl.obolibrary.org/obo/DOID_12879 obsolete Pars plana exudative cyst http://purl.obolibrary.org/obo/DOID_12881 obsolete idiopathic urticaria http://purl.obolibrary.org/obo/DOID_12910 obsolete sickle-cell/Hb-C disease with crisis http://purl.obolibrary.org/obo/DOID_12921 obsolete childhood schizophrenia http://purl.obolibrary.org/obo/DOID_12922 obsolete acute undifferentiated schizophrenia http://purl.obolibrary.org/obo/DOID_12923 obsolete chronic undifferentiated schizophrenia http://purl.obolibrary.org/obo/DOID_12928 obsolete nutritional cardiomyopathy http://purl.obolibrary.org/obo/DOID_12936 obsolete secondary cardiomyopathy http://purl.obolibrary.org/obo/DOID_12973 obsolete secondary malignant neoplasm of intrapelvic lymph node http://purl.obolibrary.org/obo/DOID_12983 obsolete transient disorder of initiating or maintaining sleep http://purl.obolibrary.org/obo/DOID_12985 obsolete functional disorder of polymorphonuclear neutrophils http://purl.obolibrary.org/obo/DOID_130 obsolete female genitalia nevus http://purl.obolibrary.org/obo/DOID_13023 obsolete sickle cell trait http://purl.obolibrary.org/obo/DOID_13040 obsolete syphilitic optic atrophy http://purl.obolibrary.org/obo/DOID_13063 obsolete moderate recurrent major depression http://purl.obolibrary.org/obo/DOID_13121 obsolete deficiency anemia http://purl.obolibrary.org/obo/DOID_1314 obsolete wasting syndrome http://purl.obolibrary.org/obo/DOID_13157 obsolete sensory disorder of eyelid http://purl.obolibrary.org/obo/DOID_13175 obsolete female genital tuberculosis http://purl.obolibrary.org/obo/DOID_13177 obsolete chronic erythremia in remission http://purl.obolibrary.org/obo/DOID_13192 obsolete pulmonary congestion and hypostasis http://purl.obolibrary.org/obo/DOID_13194 obsolete non-toxic nodular goiter http://purl.obolibrary.org/obo/DOID_13202 obsolete secondary syphilitic iridocyclitis http://purl.obolibrary.org/obo/DOID_13211 obsolete secondary malignant neoplasm of brain and spinal cord http://purl.obolibrary.org/obo/DOID_13212 obsolete metastasis to skin http://purl.obolibrary.org/obo/DOID_13213 obsolete metastatic cancer to the breast http://purl.obolibrary.org/obo/DOID_13219 obsolete transsexuality with heterosexual history http://purl.obolibrary.org/obo/DOID_13224 obsolete introverted personality http://purl.obolibrary.org/obo/DOID_1323 obsolete malignant neoplasm of trachea, bronchus and lung http://purl.obolibrary.org/obo/DOID_13232 obsolete Diffuse cholesteatosis of middle ear and mastoid http://purl.obolibrary.org/obo/DOID_13253 obsolete jejunal disease http://purl.obolibrary.org/obo/DOID_13262 obsolete hallucinatory state induced by drug http://purl.obolibrary.org/obo/DOID_13315 obsolete relapsing pancreatitis http://purl.obolibrary.org/obo/DOID_13319 obsolete lower limb lymph node mast cell malignancy http://purl.obolibrary.org/obo/DOID_13350 obsolete gender identity disorder in children http://purl.obolibrary.org/obo/DOID_13361 obsolete nephrotic syndrome with lesion of proliferative glomerulonephritis http://purl.obolibrary.org/obo/DOID_13364 obsolete chronobiology disease http://purl.obolibrary.org/obo/DOID_13376 obsolete congenital aortic insufficiency http://purl.obolibrary.org/obo/DOID_13380 obsolete acute pyelonephritis with lesion of renal medullary necrosis http://purl.obolibrary.org/obo/DOID_13387 obsolete upper limb cancer http://purl.obolibrary.org/obo/DOID_13397 obsolete atypical manic disorder http://purl.obolibrary.org/obo/DOID_13398 obsolete open angle with borderline glaucoma findings http://purl.obolibrary.org/obo/DOID_13408 obsolete metastasis to pleura http://purl.obolibrary.org/obo/DOID_1341 obsolete congenital anemia http://purl.obolibrary.org/obo/DOID_13416 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder http://purl.obolibrary.org/obo/DOID_13468 obsolete primary genital syphilis http://purl.obolibrary.org/obo/DOID_13469 obsolete secondary cutaneous syphilis http://purl.obolibrary.org/obo/DOID_13471 obsolete secondary syphilitic lymphadenitis http://purl.obolibrary.org/obo/DOID_13480 obsolete paranoid type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_13484 obsolete disorganized type schizophrenia chronic state http://purl.obolibrary.org/obo/DOID_13518 obsolete stiffness of joint http://purl.obolibrary.org/obo/DOID_13535 obsolete intrapelvic lymph node mast cell malignancy http://purl.obolibrary.org/obo/DOID_13554 obsolete gonococcal peritonitis http://purl.obolibrary.org/obo/DOID_13555 obsolete pharyngeal gonorrhea http://purl.obolibrary.org/obo/DOID_13556 obsolete gonococcal keratosis http://purl.obolibrary.org/obo/DOID_13558 obsolete gonococcal urethritis http://purl.obolibrary.org/obo/DOID_1356 obsolete lymphoma by site http://purl.obolibrary.org/obo/DOID_13562 obsolete glaucoma associated with pupillary block http://purl.obolibrary.org/obo/DOID_13573 obsolete schizo-affective type schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_13577 obsolete ascorbic acid deficiency http://purl.obolibrary.org/obo/DOID_13581 obsolete magnesium deficiency http://purl.obolibrary.org/obo/DOID_13582 obsolete potassium deficiency http://purl.obolibrary.org/obo/DOID_13583 obsolete fetal nutrition disorder http://purl.obolibrary.org/obo/DOID_13602 obsolete acute schizophrenic episode subchronic state http://purl.obolibrary.org/obo/DOID_13604 obsolete acute schizophrenic episode chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_13605 obsolete acute schizophrenic episode chronic state http://purl.obolibrary.org/obo/DOID_13643 obsolete pneumococcal septicemia http://purl.obolibrary.org/obo/DOID_13644 obsolete streptococcal septicemia http://purl.obolibrary.org/obo/DOID_13648 obsolete paranoid state http://purl.obolibrary.org/obo/DOID_13650 obsolete joint disorder http://purl.obolibrary.org/obo/DOID_13668 obsolete meningococcal encephalitis http://purl.obolibrary.org/obo/DOID_13670 obsolete hypocalcemia and hypomagnesemia of newborn http://purl.obolibrary.org/obo/DOID_13679 obsolete simple type schizophrenia subchronic state http://purl.obolibrary.org/obo/DOID_13680 obsolete simple type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_13681 obsolete simple type schizophrenia in remission http://purl.obolibrary.org/obo/DOID_13682 obsolete simple type schizophrenia chronic state http://purl.obolibrary.org/obo/DOID_13693 obsolete disorder of ureter http://purl.obolibrary.org/obo/DOID_13694 obsolete unilateral vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/DOID_13695 obsolete bilateral vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/DOID_13696 obsolete vesicoureteral reflux with reflux nephropathy http://purl.obolibrary.org/obo/DOID_13702 obsolete postpartum benign essential hypertension http://purl.obolibrary.org/obo/DOID_1376 obsolete perinatal infectious disease http://purl.obolibrary.org/obo/DOID_1378 obsolete uterine corpus mixed epithelial and mesenchymal tumor http://purl.obolibrary.org/obo/DOID_13817 obsolete single episode manic disease moderate degree http://purl.obolibrary.org/obo/DOID_13818 obsolete single episode manic disorder mild degree http://purl.obolibrary.org/obo/DOID_13820 obsolete congenital pneumonia http://purl.obolibrary.org/obo/DOID_13837 obsolete convergence excess or spasm http://purl.obolibrary.org/obo/DOID_1384 obsolete Chlamydia trachomatis urethritis http://purl.obolibrary.org/obo/DOID_13844 obsolete suppressed lactation - delivered http://purl.obolibrary.org/obo/DOID_13845 obsolete suppressed lactation http://purl.obolibrary.org/obo/DOID_13850 obsolete acquired hallux varus http://purl.obolibrary.org/obo/DOID_13869 obsolete psychosexual dysfunction with male orgasmic disease http://purl.obolibrary.org/obo/DOID_13887 obsolete residual chronic schizophrenia http://purl.obolibrary.org/obo/DOID_13906 obsolete malignant pleural effusion http://purl.obolibrary.org/obo/DOID_13923 obsolete acute psychogenic paranoid psychosis http://purl.obolibrary.org/obo/DOID_13954 obsolete mitotically active variant uterine corpus leiomyoma http://purl.obolibrary.org/obo/DOID_13962 obsolete peripheral focal retinitis and retinochoroiditis http://purl.obolibrary.org/obo/DOID_13969 obsolete schizo-affective type schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_13970 obsolete schizo-affective type schizophrenia chronic state http://purl.obolibrary.org/obo/DOID_13975 obsolete metastatic tumor to the brain stem http://purl.obolibrary.org/obo/DOID_13995 obsolete secondary malignant neoplasm to the small Intestine http://purl.obolibrary.org/obo/DOID_14001 obsolete diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder http://purl.obolibrary.org/obo/DOID_1402 obsolete agalactia http://purl.obolibrary.org/obo/DOID_14038 obsolete precocious puberty http://purl.obolibrary.org/obo/DOID_14041 obsolete endocrine tuberculosis http://purl.obolibrary.org/obo/DOID_14044 obsolete rheumatic pericarditis http://purl.obolibrary.org/obo/DOID_14045 obsolete syndrome of infant of a diabetic mother http://purl.obolibrary.org/obo/DOID_14056 obsolete rheumatic endocarditis http://purl.obolibrary.org/obo/DOID_14063 obsolete acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis http://purl.obolibrary.org/obo/DOID_14072 obsolete neoplastic pregnancy complications http://purl.obolibrary.org/obo/DOID_14090 obsolete heartwater disease http://purl.obolibrary.org/obo/DOID_14108 obsolete syphilitic peritonitis http://purl.obolibrary.org/obo/DOID_14114 obsolete congenital adhesion of tongue http://purl.obolibrary.org/obo/DOID_14117 obsolete group A hyperlipidemia http://purl.obolibrary.org/obo/DOID_14157 obsolete malnutrition of mild degree http://purl.obolibrary.org/obo/DOID_14163 obsolete metastatic malignant tumor to the anus http://purl.obolibrary.org/obo/DOID_14178 obsolete immunodeficiency with increased IgM http://purl.obolibrary.org/obo/DOID_14182 obsolete metastatic tumor to the choroid http://purl.obolibrary.org/obo/DOID_1419 obsolete residual schizophrenia subchronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_14190 obsolete shared paranoid disease http://purl.obolibrary.org/obo/DOID_14191 obsolete simple paranoid state http://purl.obolibrary.org/obo/DOID_14200 obsolete diplopia http://purl.obolibrary.org/obo/DOID_14215 obsolete hyperamylasemia http://purl.obolibrary.org/obo/DOID_14258 obsolete leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb http://purl.obolibrary.org/obo/DOID_14263 obsolete fits in newborn http://purl.obolibrary.org/obo/DOID_1427 obsolete disorder of pancreatic internal secretion http://purl.obolibrary.org/obo/DOID_14278 obsolete arthropathy of the hand http://purl.obolibrary.org/obo/DOID_14312 obsolete nontoxic uninodular goiter http://purl.obolibrary.org/obo/DOID_14313 obsolete thyroid nodule http://purl.obolibrary.org/obo/DOID_14327 obsolete gonococcal pericarditis http://purl.obolibrary.org/obo/DOID_14339 obsolete paraphrenia http://purl.obolibrary.org/obo/DOID_14363 obsolete congenital syphilitic meningitis http://purl.obolibrary.org/obo/DOID_14401 obsolete cutis marmorata http://purl.obolibrary.org/obo/DOID_1442 obsolete Alpers syndrome http://purl.obolibrary.org/obo/DOID_14425 obsolete secondary malignant neoplasm of intra-abdominal lymph node http://purl.obolibrary.org/obo/DOID_14426 obsolete secondary malignant neoplasm of intrathoracic lymph node http://purl.obolibrary.org/obo/DOID_14467 obsolete drug-induced persisting amnestic disease http://purl.obolibrary.org/obo/DOID_14490 obsolete metastasis to the ureter http://purl.obolibrary.org/obo/DOID_14492 obsolete metastatic neoplasm of ureter http://purl.obolibrary.org/obo/DOID_145 obsolete papilledema associated with retinal disorder http://purl.obolibrary.org/obo/DOID_14518 obsolete Idiopathic cysts of iris and ciliary body http://purl.obolibrary.org/obo/DOID_14521 obsolete cutaneous breast cancer http://purl.obolibrary.org/obo/DOID_14530 obsolete syringomyelia and syringobulbia http://purl.obolibrary.org/obo/DOID_14539 obsolete metastasis to heart http://purl.obolibrary.org/obo/DOID_14542 obsolete macular or paramacular focal retinitis and retinochoroiditis http://purl.obolibrary.org/obo/DOID_14549 obsolete Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear http://purl.obolibrary.org/obo/DOID_14558 obsolete nontoxic multinodular goiter http://purl.obolibrary.org/obo/DOID_1465 obsolete Salmonella septicemia http://purl.obolibrary.org/obo/DOID_1466 obsolete Salmonella infectious disease http://purl.obolibrary.org/obo/DOID_14676 obsolete congenital contricting bands http://purl.obolibrary.org/obo/DOID_14680 obsolete hereditary inflammatory vasculitis http://purl.obolibrary.org/obo/DOID_1469 obsolete single major depressive episode in full remission http://purl.obolibrary.org/obo/DOID_14727 obsolete dominant cogenital severe sensorineural deafness http://purl.obolibrary.org/obo/DOID_14739 obsolete progressive high-tone neural deafness http://purl.obolibrary.org/obo/DOID_14787 obsolete Fryns syndrome http://purl.obolibrary.org/obo/DOID_1486 obsolete secondary syphilitic chorioretinitis http://purl.obolibrary.org/obo/DOID_1487 obsolete secondary syphilitic uveitis http://purl.obolibrary.org/obo/DOID_1491 obsolete corneal anesthesia and hypoesthesia http://purl.obolibrary.org/obo/DOID_1499 obsolete Vibrio infectious disease http://purl.obolibrary.org/obo/DOID_1511 obsolete residual schizophrenia chronic state with acute exacerbation http://purl.obolibrary.org/obo/DOID_1515 obsolete mitral valve syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_1516 obsolete syphilitic endocarditis http://purl.obolibrary.org/obo/DOID_1528 obsolete penile non-neoplastic disease http://purl.obolibrary.org/obo/DOID_1530 obsolete male non-neoplastic reproductive system disease http://purl.obolibrary.org/obo/DOID_1543 obsolete metastatic neoplasm of parathyroid http://purl.obolibrary.org/obo/DOID_155 obsolete glandular and epithelial neoplasm http://purl.obolibrary.org/obo/DOID_1550 obsolete gestational diabetes complicating pregnancy, childbirth, or the puerperium http://purl.obolibrary.org/obo/DOID_1568 obsolete calculus of gallbladder and bile duct with acute and chronic cholecystitis http://purl.obolibrary.org/obo/DOID_1585 obsolete rheumatic pneumonia http://purl.obolibrary.org/obo/DOID_159 obsolete mesothelial neoplasm http://purl.obolibrary.org/obo/DOID_1592 obsolete secondary malignant neoplasm of retroperitoneum and peritoneum http://purl.obolibrary.org/obo/DOID_1593 obsolete metastasis to the peritoneum http://purl.obolibrary.org/obo/DOID_1597 obsolete single episode mild major depression http://purl.obolibrary.org/obo/DOID_1599 obsolete single episode moderate major depression http://purl.obolibrary.org/obo/DOID_1620 obsolete breast fibroepithelial tumor http://purl.obolibrary.org/obo/DOID_1624 obsolete breast soft tissue tumor http://purl.obolibrary.org/obo/DOID_163 obsolete mucoepidermoid tumor http://purl.obolibrary.org/obo/DOID_1634 obsolete breast papillomatosis http://purl.obolibrary.org/obo/DOID_164 obsolete cystic, mucinous, and serous neoplasm http://purl.obolibrary.org/obo/DOID_1661 obsolete malignant intracranial germ cell neoplasm http://purl.obolibrary.org/obo/DOID_1666 obsolete hip enthesopathy http://purl.obolibrary.org/obo/DOID_1667 obsolete peripheral enthesopathy http://purl.obolibrary.org/obo/DOID_1685 obsolete glaucoma associated with vascular disorder http://purl.obolibrary.org/obo/DOID_1695 obsolete congenital ichthyosis http://purl.obolibrary.org/obo/DOID_1699 obsolete congenital ichthyosiform erythroderma http://purl.obolibrary.org/obo/DOID_1709 obsolete rickettsiosis http://purl.obolibrary.org/obo/DOID_1741 obsolete drug-induced psychotic disease with delusion http://purl.obolibrary.org/obo/DOID_1744 obsolete malignant lymphatic vessel tumor http://purl.obolibrary.org/obo/DOID_2214 obsolete inherited blood coagulation disease http://purl.obolibrary.org/obo/DOID_2481 obsolete infantile epileptic encephalopathy http://purl.obolibrary.org/obo/DOID_715 obsolete T-cell lymphoblastic leukemia/lymphoma http://purl.obolibrary.org/obo/NCBITaxon_1 ncbitaxon http://purl.obolibrary.org/obo/UBERON_0001062 anatomy http://purl.obolibrary.org/obo/GENO_0000141 inheritance pattern http://purl.obolibrary.org/obo/UPHENO_0001001 phenotype http://purl.obolibrary.org/obo/DOID_0080220 obsolete major affective disorder 1 http://purl.obolibrary.org/obo/DOID_0080221 obsolete major affective disorder 2 http://purl.obolibrary.org/obo/DOID_0080229 obsolete autosomal dominant mental retardation 61 http://purl.obolibrary.org/obo/DOID_0080340 obsolete X-linked dominant disease http://purl.obolibrary.org/obo/DOID_0080341 obsolete X-linked recessive disease http://purl.obolibrary.org/obo/doid#chebi chebi http://purl.obolibrary.org/obo/DOID_0080783 obsolete X-linked sensorineural deafness http://purl.obolibrary.org/obo/doid#sequence sequence http://purl.obolibrary.org/obo/FOODON_00002403 food material http://purl.obolibrary.org/obo/DOID_0070175 obsolete spermatogenic failure 9 http://purl.obolibrary.org/obo/MIM_000000 omim_susceptibility http://purl.obolibrary.org/obo/MIM_607681 obsolete susceptibility to childhood absence epilepsy 2 http://purl.obolibrary.org/obo/MIM_615032 obsolete susceptibility to autism 18 http://purl.obolibrary.org/obo/MIM_616568 obsolete glioma susceptibility 9 http://purl.obolibrary.org/obo/RO_0002202 develops from http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002254 has developmental contribution from http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002258 developmentally preceded by http://purl.obolibrary.org/obo/RO_0002324 developmentally related to http://purl.obolibrary.org/obo/RO_0000087 has role http://purl.obolibrary.org/obo/RO_0000053 has characteristic http://purl.obolibrary.org/obo/RO_0007001 has disease driver http://purl.obolibrary.org/obo/RO_0007000 has driver http://purl.obolibrary.org/obo/RO_0002452 has symptom http://purl.obolibrary.org/obo/RO_0002200 has phenotype http://purl.obolibrary.org/obo/RO_0002241 has exposure stressor http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002200 has phenotype http://purl.obolibrary.org/obo/RO_0016001 has phenotype or disease http://purl.obolibrary.org/obo/RO_0001020 is allergic trigger for http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/RO_0001021 is autoimmune trigger for http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/RO_0003304 contributes to condition http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/RO_0003303 causes condition http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/RO_0001022 has allergic trigger http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/RO_0002490 existence overlaps http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/RO_0002488 existence starts during http://purl.obolibrary.org/obo/RO_0002496 existence starts during or after http://purl.obolibrary.org/obo/RO_0002309 has exposure stimulus http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002220 adjacent to http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002163 spatially disjoint from http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to http://purl.obolibrary.org/obo/RO_0002451 transmitted by http://purl.obolibrary.org/obo/RO_0002321 ecologically related to http://purl.obolibrary.org/obo/RO_0004005 has major susceptibility factor http://purl.obolibrary.org/obo/RO_0004000 condition has genetic basis in http://purl.obolibrary.org/obo/RO_0004000 condition has genetic basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0004019 disease has basis in http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0003302 causes or contributes to condition http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0002244 related via exposure to http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0004017 realizable has basis in http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0004023 causal relationship with disease as subject http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/RO_0004029 disease has feature http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/RO_0004026 disease has location http://purl.obolibrary.org/obo/RO_0040035 disease relationship http://purl.obolibrary.org/obo/RO_0007000 has driver A relation between two entities, in which one of the entities is any natural or human-influenced factor that directly or indirectly causes a change in the other entity. http://purl.obolibrary.org/obo/IDO_0000664 has material basis in Relating the disease to it’s causation (disease and disorder). http://purl.obolibrary.org/obo/RO#_is_a is_a Relation defining child to partent inheritance type. http://purl.obolibrary.org/obo/RO_0002324 developmentally related to http://purl.obolibrary.org/obo/RO_0000053 has characteristic http://purl.obolibrary.org/obo/RO_0001000 derives from http://purl.obolibrary.org/obo/RO_0003000 produces http://purl.obolibrary.org/obo/RO_0003001 produced by http://purl.obolibrary.org/obo/RO_0016001 has phenotype or disease http://purl.obolibrary.org/obo/BFO_0000051 has part http://purl.obolibrary.org/obo/RO_0002487 relation between physical entity and a process or stage http://purl.obolibrary.org/obo/so#has_origin has_origin http://purl.obolibrary.org/obo/BFO_0000050 part of http://purl.obolibrary.org/obo/RO_0002323 mereotopologically related to http://purl.obolibrary.org/obo/RO_0002321 ecologically related to http://purl.obolibrary.org/obo/RO_0002410 causally related to http://purl.obolibrary.org/obo/RO_0040035 disease relationship